#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
MUC4	4585	genome.wustl.edu	37	3	195513295	195513295	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:195513295G>A	ENST00000463781.3	-	2	5615	c.5156C>T	c.(5155-5157)tCc>tTc	p.S1719F	MUC4_ENST00000475231.1_Missense_Mutation_p.S1719F|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S1719F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATACTGAGGAAAGGCTGGT	0.577													ENSG00000145113																																					1	Substitution - Missense(1)	endometrium(1)											22.0	24.0	24.0					3																	195513295		681	1580	2261	SO:0001583	missense	0			-	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5156C>T	3.37:g.195513295G>A	ENSP00000417498:p.Ser1719Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S1719F	ENST00000463781.3	37	c.5156	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	10.32	1.318781	0.23994	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35789	1.29;1.38	.	.	.	.	2.602620	0.05137	U	0.493576	T	0.25044	0.0608	N	0.19112	0.55	0.23754	N	0.996938	P	0.50156	0.932	B	0.43990	0.438	T	0.21348	-1.0248	8	.	.	.	.	5.8679	0.18786	8.0E-4:0.0:0.9992:0.0	.	1719	E7ESK3	.	F	1719	ENSP00000417498:S1719F;ENSP00000420243:S1719F	.	S	-	2	0	MUC4	196997690	0.088000	0.21588	0.077000	0.20336	0.077000	0.17291	-0.665000	0.05286	0.088000	0.17205	0.089000	0.15464	TCC	-	MUC4	-	NULL		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	0	0		235	235		0.00		G	NM_018406		195513295	-1	52		271		tier1	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	16.05		SNP	1.000	A	52	271
TNFRSF10D	8793	genome.wustl.edu	37	8	23003268	23003268	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:23003268C>T	ENST00000312584.3	-	5	743	c.649G>A	c.(649-651)Gtg>Atg	p.V217M		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	217					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ACTAAAACCACTATGATGATA	0.488													ENSG00000173530																																					0													140.0	125.0	130.0					8																	23003268		2203	4300	6503	SO:0001583	missense	0			-	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.649G>A	8.37:g.23003268C>T	ENSP00000310263:p.Val217Met		B2R8W0|Q9Y6Q4	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.V217M	ENST00000312584.3	37	c.649	CCDS6038.1	8	.	.	.	.	.	.	.	.	.	.	c	7.666	0.685995	0.14973	.	.	ENSG00000173530	ENST00000312584	D	0.84070	-1.8	1.62	-3.23	0.05109	.	.	.	.	.	T	0.64983	0.2648	N	0.22421	0.69	0.09310	N	1	P	0.37015	0.578	B	0.34385	0.181	T	0.53380	-0.8447	9	0.31617	T	0.26	.	4.6167	0.12430	0.3406:0.219:0.4403:0.0	.	217	Q9UBN6	TR10D_HUMAN	M	217	ENSP00000310263:V217M	ENSP00000310263:V217M	V	-	1	0	TNFRSF10D	23059213	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.973000	0.01500	-1.636000	0.01533	0.449000	0.29647	GTG	-	TNFRSF10D	-	NULL		0.488	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10D	HGNC	protein_coding	OTTHUMT00000215135.1	0	0		69	69		0.00		C			23003268	-1	31		40		tier1	no_errors	ENST00000312584	ensembl	human	known	74_37	missense	43.66		SNP	0.000	T	31	40
GDF2	2658	genome.wustl.edu	37	10	48416392	48416392	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:48416392G>A	ENST00000249598.1	-	1	461	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	101					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TGGCGTAGTCGACTTATCGGA	0.592													ENSG00000128802																																					0													114.0	91.0	99.0					10																	48416392		2203	4300	6503	SO:0001583	missense	0			-	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.302C>T	10.37:g.48416392G>A	ENSP00000249598:p.Ser101Leu		Q5VSQ9|Q9Y571	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.S101L	ENST00000249598.1	37	c.302	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183092	0.57800	.	.	ENSG00000128802	ENST00000249598	T	0.67171	-0.25	5.37	5.37	0.77165	Transforming growth factor-beta, N-terminal (1);	0.335009	0.33161	N	0.005213	T	0.65004	0.2650	M	0.71581	2.175	0.41890	D	0.990366	P	0.36768	0.569	B	0.32149	0.141	T	0.65080	-0.6255	10	0.25106	T	0.35	.	18.4454	0.90682	0.0:0.0:1.0:0.0	.	101	Q9UK05	GDF2_HUMAN	L	101	ENSP00000249598:S101L	ENSP00000249598:S101L	S	-	2	0	GDF2	48036398	1.000000	0.71417	0.578000	0.28575	0.046000	0.14306	6.365000	0.73090	2.676000	0.91093	0.655000	0.94253	TCG	-	GDF2	-	pfam_TGF-b_N		0.592	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	0	0		66	66		0.00		G	NM_016204		48416392	-1	15		58		tier1	no_errors	ENST00000249598	ensembl	human	known	74_37	missense	20.55		SNP	0.755	A	15	58
CIDEC	63924	genome.wustl.edu	37	3	9918765	9918765	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:9918765C>T	ENST00000336832.2	-	3	331	c.192G>A	c.(190-192)gaG>gaA	p.E64E	CIDEC_ENST00000455015.1_Intron|CIDEC_ENST00000430427.1_Silent_p.E64E|CIDEC_ENST00000423850.1_Intron|CIDEC_ENST00000443115.1_Silent_p.E64E|CIDEC_ENST00000383817.1_Silent_p.E64E	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	64	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GGAGGAGGTCCTCAAGACTGT	0.632													ENSG00000187288																																					0													56.0	43.0	47.0					3																	9918765		2158	4214	6372	SO:0001819	synonymous_variant	0			-		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.192G>A	3.37:g.9918765C>T			C9JMN7|Q67DW9|Q9GZY9	Silent	SNP	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.E64	ENST00000336832.2	37	c.192	CCDS2587.1	3																																																																																			-	CIDEC	-	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom		0.632	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CIDEC	HGNC	protein_coding	OTTHUMT00000250334.1	0	0		20	20		0.00		C	NM_022094		9918765	-1	8		22		tier1	no_errors	ENST00000336832	ensembl	human	known	74_37	silent	26.67		SNP	0.238	T	8	22
SLC8A1	6546	genome.wustl.edu	37	2	40657360	40657360	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:40657360C>T	ENST00000403092.1	-	2	94	c.61G>A	c.(61-63)Gtt>Att	p.V21I	SLC8A1_ENST00000405269.1_Missense_Mutation_p.V21I|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V21I|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V21I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V21I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V21I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V21I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V21I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V21I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V21I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	21					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTCACAGTAACTAACAGATGA	0.388													ENSG00000183023																																					0													97.0	94.0	95.0					2																	40657360		2203	4300	6503	SO:0001583	missense	0			-		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.61G>A	2.37:g.40657360C>T	ENSP00000384763:p.Val21Ile		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.V21I	ENST00000403092.1	37	c.61	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	1.744	-0.491003	0.04322	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.71;1.72;1.71;1.68;1.68;1.72;1.68;1.68;1.68	6.04	1.68	0.24146	.	0.702014	0.15079	N	0.281761	T	0.15696	0.0378	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.004;0.002	B;B;B;B;B	0.12156	0.0;0.0;0.0;0.005;0.007	T	0.19647	-1.0299	10	0.36615	T	0.2	.	4.9643	0.14082	0.1504:0.5653:0.0:0.2842	.	21;21;21;21;21	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	I	21	ENSP00000383886:V21I;ENSP00000440727:V21I;ENSP00000384763:V21I;ENSP00000385678:V21I;ENSP00000385188:V21I;ENSP00000385535:V21I;ENSP00000332931:V21I;ENSP00000384908:V21I;ENSP00000385811:V21I;ENSP00000443515:V21I	ENSP00000332931:V21I	V	-	1	0	SLC8A1	40510864	0.777000	0.28628	0.176000	0.23000	0.590000	0.36582	1.429000	0.34903	0.420000	0.25954	0.563000	0.77884	GTT	-	SLC8A1	-	prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex		0.388	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	0	0		41	41		0.00		C	NM_021097		40657360	-1	15		22		tier1	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	40.54		SNP	0.001	T	15	22
LRIG2	9860	genome.wustl.edu	37	1	113637279	113637279	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:113637279C>T	ENST00000361127.5	+	6	903	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	235					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)		GTCTTACATTCCAAGGGCTTG	0.338													ENSG00000198799																																					0													97.0	101.0	99.0					1																	113637279		2203	4300	6503	SO:0001819	synonymous_variant	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.705C>T	1.37:g.113637279C>T			Q9NSN2	Silent	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.F235	ENST00000361127.5	37	c.705	CCDS30808.1	1																																																																																			-	LRIG2	-	smart_Leu-rich_rpt_typical-subtyp		0.338	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	0	0		119	119		0.00		C	NM_014813		113637279	+1	19		89		tier1	no_errors	ENST00000361127	ensembl	human	known	74_37	silent	17.59		SNP	1.000	T	19	89
FLNB	2317	genome.wustl.edu	37	3	58149009	58149009	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:58149009C>T	ENST00000295956.4	+	43	7315	c.7150C>T	c.(7150-7152)Cct>Tct	p.P2384S	FLNB_ENST00000429972.2_Missense_Mutation_p.P2373S|FLNB_ENST00000493452.1_Missense_Mutation_p.P2191S|FLNB_ENST00000419752.2_Missense_Mutation_p.P2204S|FLNB_ENST00000348383.5_Missense_Mutation_p.P2343S|FLNB_ENST00000358537.3_Missense_Mutation_p.P2360S|FLNB_ENST00000357272.4_3'UTR|FLNB-AS1_ENST00000472922.1_RNA|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.P2415S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2384	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCGGGGAACCCTGCCCTGGT	0.587													ENSG00000136068																																					0													83.0	73.0	77.0					3																	58149009		2203	4300	6503	SO:0001583	missense	0			-	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7150C>T	3.37:g.58149009C>T	ENSP00000295956:p.Pro2384Ser		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P2384S	ENST00000295956.4	37	c.7150	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788356	0.70337	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.096122	0.64402	D	0.000001	D	0.93841	0.8030	M	0.80028	2.48	0.80722	D	1	B;D;B;D;B;B	0.76494	0.002;0.973;0.003;0.999;0.006;0.006	B;P;B;D;B;B	0.79108	0.012;0.885;0.037;0.992;0.021;0.032	D	0.94261	0.7502	10	0.72032	D	0.01	.	19.2174	0.93783	0.0:1.0:0.0:0.0	.	2360;2415;2191;2204;2373;2384	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	S	2384;2415;2360;2373;2343;2191;2204	ENSP00000295956:P2384S;ENSP00000420213:P2415S;ENSP00000351339:P2360S;ENSP00000415599:P2373S;ENSP00000232447:P2343S;ENSP00000418510:P2191S;ENSP00000414532:P2204S	ENSP00000295956:P2384S	P	+	1	0	FLNB	58124049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.939000	0.56591	2.602000	0.87976	0.655000	0.94253	CCT	-	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	0	0		80	80		0.00		C	NM_001457		58149009	+1	15		90		tier1	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	14.29		SNP	1.000	T	15	90
RBFOX1	54715	genome.wustl.edu	37	16	7568218	7568218	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:7568218C>T	ENST00000550418.1	+	5	1085	c.97C>T	c.(97-99)Ccg>Tcg	p.P33S	RBFOX1_ENST00000436368.2_Missense_Mutation_p.P53S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P76S|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P53S|RBFOX1_ENST00000340209.4_Missense_Mutation_p.P38S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P69S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P53S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P76S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P33S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P69S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P33S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	33					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTTTGCTCCCCCGCAGAACGG	0.587													ENSG00000078328																									Ovarian(157;934 2567 15163 39509)												0													128.0	129.0	128.0					16																	7568218		2197	4300	6497	SO:0001583	missense	0			-	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.97C>T	16.37:g.7568218C>T	ENSP00000450031:p.Pro33Ser		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom	p.P76S	ENST00000550418.1	37	c.226	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444764	0.83993	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.39229	1.6;1.15;1.56;1.41;1.34;1.52;1.15;1.2;1.35;1.27;1.09	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.70275	2.135	0.58432	D	0.999999	P;D;D;D;P;D;P;P;P	0.61697	0.494;0.986;0.983;0.99;0.939;0.981;0.828;0.899;0.931	B;P;P;P;P;P;P;P;P	0.59171	0.1;0.73;0.718;0.853;0.721;0.715;0.612;0.607;0.833	T	0.62709	-0.6797	10	0.66056	D	0.02	-6.1649	13.026	0.58814	0.1612:0.8388:0.0:0.0	.	53;69;76;53;53;53;33;33;76	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	S	33;33;33;76;76;69;69;33;33;53;53;53;53;38	ENSP00000450402:P33S;ENSP00000450031:P33S;ENSP00000447753:P33S;ENSP00000446842:P76S;ENSP00000391269:P76S;ENSP00000447281:P33S;ENSP00000447717:P33S;ENSP00000402745:P53S;ENSP00000309117:P53S;ENSP00000347855:P53S;ENSP00000344196:P38S	ENSP00000309117:P53S	P	+	1	0	RBFOX1	7508219	1.000000	0.71417	0.989000	0.46669	0.969000	0.65631	5.200000	0.65158	2.222000	0.72286	0.557000	0.71058	CCG	-	RBFOX1	-	pirsf_R-bd_Fox-1		0.587	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	0	0		41	41		0.00		C	NM_145891		7568218	+1	25		43		tier1	no_errors	ENST00000547372	ensembl	human	known	74_37	missense	36.76		SNP	1.000	T	25	43
USP30	84749	genome.wustl.edu	37	12	109522791	109522791	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:109522791T>A	ENST00000257548.5	+	12	1295	c.1202T>A	c.(1201-1203)aTt>aAt	p.I401N	USP30_ENST00000392784.2_Missense_Mutation_p.I370N	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	401	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AAAACACAGATTTTTATGAAT	0.507													ENSG00000135093																																					0													140.0	160.0	153.0					12																	109522791		2203	4300	6503	SO:0001583	missense	0			-	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1202T>A	12.37:g.109522791T>A	ENSP00000257548:p.Ile401Asn		Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.I401N	ENST00000257548.5	37	c.1202	CCDS9123.2	12	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003342	0.54254	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.74421	-0.84;-0.84	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.819209	0.11058	N	0.604265	T	0.58524	0.2128	N	0.08118	0	0.34753	D	0.731964	B;B	0.24768	0.111;0.033	B;B	0.29663	0.105;0.066	T	0.61212	-0.7108	10	0.31617	T	0.26	-2.908	12.0008	0.53228	0.0:0.0:0.0:1.0	.	401;370	Q70CQ3;B3KUS5	UBP30_HUMAN;.	N	370;401	ENSP00000376535:I370N;ENSP00000257548:I401N	ENSP00000257548:I401N	I	+	2	0	USP30	108007174	0.281000	0.24258	0.814000	0.32528	0.978000	0.69477	2.700000	0.47085	2.082000	0.62665	0.528000	0.53228	ATT	-	USP30	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.507	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	HGNC	protein_coding	OTTHUMT00000257733.2	0	0		47	47		0.00		T	NM_032663		109522791	+1	11		40		tier1	no_errors	ENST00000257548	ensembl	human	known	74_37	missense	21.57		SNP	0.832	A	11	40
LHFPL5	222662	genome.wustl.edu	37	6	35787302	35787302	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35787302C>T	ENST00000360215.1	+	3	1053				LHFPL5_ENST00000496656.1_3'UTR	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5						auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTCTGCTTCCTTACTGAATC	0.567													ENSG00000197753																																					0													137.0	123.0	127.0					6																	35787302		692	1591	2283	SO:0001627	intron_variant	0			-	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000360215.1:c.657+62C>T	6.37:g.35787302C>T			B3KX66	R	SNP	-	NULL	ENST00000360215.1	37	NULL	CCDS4812.1	6																																																																																			-	LHFPL5	-	-		0.567	LHFPL5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding		0	0		32	32		0.00		C	NM_182548		35787302	+1	8		42		tier1	no_errors	ENST00000496656	ensembl	human	known	74_37	rna	16.00		SNP	0.000	T	8	42
CFAP46	54777	genome.wustl.edu	37	10	134623946	134623946	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:134623946G>A	ENST00000368586.5	-	57	7731	c.7631C>T	c.(7630-7632)tCa>tTa	p.S2544L	TTC40_ENST00000263170.5_Missense_Mutation_p.S705L	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTCATCTTCTGAAGGAGACGC	0.632													ENSG00000171811																																					0													96.0	82.0	87.0					10																	134623946		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000368586.5:c.7631C>T	10.37:g.134623946G>A	ENSP00000357575:p.Ser2544Leu			Missense_Mutation	SNP	NULL	p.S705L	ENST00000368586.5	37	c.2114	CCDS58101.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.000400|3.000400	0.54147|0.54147	.|.	.|.	ENSG00000171811|ENSG00000171811	ENST00000435957|ENST00000368586;ENST00000263170	.|T;T	.|0.16743	.|2.61;2.32	2.98|2.98	2.98|2.98	0.34508|0.34508	.|.	.|1.444780	.|0.04757	.|N	.|0.425555	.|T	.|0.25975	.|0.0633	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|P	.|0.50819	.|0.939	.|P	.|0.47206	.|0.541	.|T	.|0.22243	.|-1.0222	.|10	0.06236|0.54805	T|T	0.91|0.06	.|.	11.6974|11.6974	0.51551|0.51551	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|705	.|Q8IYW2	.|CJ092_HUMAN	X|L	173|2544;705	.|ENSP00000357575:S2544L;ENSP00000263170:S705L	ENSP00000396731:Q173X|ENSP00000263170:S705L	Q|S	-|-	1|2	0|0	C10orf93|C10orf93	134473936|134473936	0.627000|0.627000	0.27129|0.27129	0.095000|0.095000	0.20976|0.20976	0.066000|0.066000	0.16364|0.16364	2.553000|2.553000	0.45837|0.45837	2.001000|2.001000	0.58596|0.58596	0.591000|0.591000	0.81541|0.81541	CAG|TCA	-	TTC40	-	NULL		0.632	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	0	0		26	26		0.00		G			134623946	-1	10		19		tier1	no_errors	ENST00000263170	ensembl	human	known	74_37	missense	34.48		SNP	0.629	A	10	19
ASPA	443	genome.wustl.edu	37	17	3386821	3386821	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3386821T>C	ENST00000263080.2	+	3	619	c.461T>C	c.(460-462)gTt>gCt	p.V154A	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.V154A	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	154					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)	CCCTGCTACGTTTATCTGATT	0.403													ENSG00000108381																																					0													178.0	158.0	165.0					17																	3386821		2203	4300	6503	SO:0001583	missense	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.461T>C	17.37:g.3386821T>C	ENSP00000263080:p.Val154Ala			Missense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.V154A	ENST00000263080.2	37	c.461	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	t	11.13	1.547442	0.27652	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97710	-4.5;-4.5	5.41	5.41	0.78517	.	0.226116	0.44902	D	0.000405	D	0.96651	0.8907	M	0.79475	2.455	0.80722	D	1	B	0.19445	0.036	B	0.22601	0.04	D	0.94804	0.7973	10	0.62326	D	0.03	-18.2072	10.9328	0.47228	0.0:0.0757:0.0:0.9243	.	154	P45381	ACY2_HUMAN	A	154	ENSP00000409976:V154A;ENSP00000263080:V154A	ENSP00000263080:V154A	V	+	2	0	ASPA	3333571	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.752000	0.62176	2.198000	0.70561	0.533000	0.62120	GTT	-	ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase		0.403	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	0	0		49	49		0.00		T	NM_000049		3386821	+1	29		35		tier1	no_errors	ENST00000263080	ensembl	human	known	74_37	missense	45.31		SNP	1.000	C	29	35
MUC16	94025	genome.wustl.edu	37	19	9070715	9070715	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9070715C>T	ENST00000397910.4	-	3	16934	c.16731G>A	c.(16729-16731)caG>caA	p.Q5577Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5579	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						GAAGGATACCCTGTGATGTAG	0.512													ENSG00000181143																																					0													222.0	206.0	211.0					19																	9070715		2020	4178	6198	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.16731G>A	19.37:g.9070715C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.Q5577	ENST00000397910.4	37	c.16731	CCDS54212.1	19																																																																																			-	MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0		66	66		0.00		C	NM_024690		9070715	-1	40		40		tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	49.38		SNP	0.000	T	40	40
MUC5AC	4586	genome.wustl.edu	37	11	1213550	1213550	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1213550C>T	ENST00000358378.6	+	0	791							P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TGCTGCGAGACCCCCAGAGGC	0.607													ENSG00000215182																																					0													240.0	239.0	239.0					11																	1213550		875	1990	2865	SO:0001624	3_prime_UTR_variant	0			-	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.*788C>T	11.37:g.1213550C>T			O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	R	SNP	-	NULL	ENST00000358378.6	37	NULL		11																																																																																			-	MUC5AC	-	-		0.607	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	MUC5AC	HGNC	protein_coding	OTTHUMT00000396096.2	0	0		64	64		0.00		C	XM_001130382		1213550	+1	14		68		tier1	no_errors	ENST00000358378	ensembl	human	putative	74_37	rna	17.07		SNP	0.000	T	14	68
DIO3	1735	genome.wustl.edu	37	14	102024765	102024765	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:102024765G>A	ENST00000510508.4	+	0	0				DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_5'Flank			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III						cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGACAAGACAGTAGGGGCAAC	0.617													ENSG00000258498																																					0																																										SO:0001631	upstream_gene_variant	0			-	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681		14.37:g.102024765G>A	Exception_encountered		G3XAM0|Q8WVN5	R	SNP	-	NULL	ENST00000510508.4	37	NULL	CCDS41992.2	14																																																																																			-	DIO3OS	-	-		0.617	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	DIO3OS	HGNC	protein_coding	OTTHUMT00000361712.4	0	0		38	38		0.00		G	NM_001362		102024765	-1	22		23		tier1	no_errors	ENST00000554735	ensembl	human	known	74_37	rna	48.89		SNP	0.000	A	22	23
SKIV2L2	23517	genome.wustl.edu	37	5	54654445	54654445	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:54654445G>A	ENST00000230640.5	+	15	1832	c.1578G>A	c.(1576-1578)agG>agA	p.R526R	SKIV2L2_ENST00000545714.1_Silent_p.R425R	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	526	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GTGCTGGAAGGAGAGGAATGG	0.328													ENSG00000039123																									Melanoma(2;92 134 23744 29976 33782)												0													106.0	106.0	106.0					5																	54654445		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1578G>A	5.37:g.54654445G>A			Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	pfam_DSH_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_R_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R526	ENST00000230640.5	37	c.1578	CCDS3967.1	5																																																																																			-	SKIV2L2	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pirsf_R_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C		0.328	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	0	0		61	61		0.00		G			54654445	+1	7		76		tier1	no_errors	ENST00000230640	ensembl	human	known	74_37	silent	8.43		SNP	0.977	A	7	76
LMO7	4008	genome.wustl.edu	37	13	76407265	76407265	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:76407265G>A	ENST00000321797.8	+	14	3050	c.2329G>A	c.(2329-2331)Gat>Aat	p.D777N	LMO7_ENST00000357063.3_Missense_Mutation_p.D1062N|LMO7_ENST00000377534.3_Missense_Mutation_p.D1062N|LMO7_ENST00000341547.4_Missense_Mutation_p.D728N|LMO7_ENST00000526202.1_Missense_Mutation_p.D627N|LMO7_ENST00000465261.2_Missense_Mutation_p.D777N			Q8WWI1	LMO7_HUMAN	LIM domain 7	1062					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATAAAATGGGATATTCCTGG	0.398													ENSG00000136153																																					0													142.0	141.0	141.0					13																	76407265		2203	4300	6503	SO:0001583	missense	0			-	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2329G>A	13.37:g.76407265G>A	ENSP00000317802:p.Asp777Asn		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.D1062N	ENST00000321797.8	37	c.3184		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.279266|2.279266	0.40294|0.40294	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038	T;T;T;T;T;T;T|.	0.26223|.	1.75;1.75;1.75;1.75;1.75;1.75;1.75|.	5.3|5.3	3.58|3.58	0.41010|0.41010	PDZ/DHR/GLGF (4);|.	0.736239|.	0.13709|.	N|.	0.368224|.	T|T	0.42765|0.42765	0.1217|0.1217	L|L	0.31578|0.31578	0.945|0.945	0.53005|0.53005	D|D	0.999969|0.999969	B;B;P;B;B|.	0.35226|.	0.016;0.051;0.491;0.016;0.011|.	B;B;B;B;B|.	0.34536|.	0.012;0.018;0.185;0.012;0.055|.	T|T	0.16482|0.16482	-1.0401|-1.0401	10|5	0.27785|.	T|.	0.31|.	-1.4743|-1.4743	6.8816|6.8816	0.24177|0.24177	0.3895:0.0:0.6105:0.0|0.3895:0.0:0.6105:0.0	.|.	627;728;1062;777;1010|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	N|E	728;1062;1062;676;777;627;777|685	ENSP00000342112:D728N;ENSP00000349571:D1062N;ENSP00000366757:D1062N;ENSP00000366719:D676N;ENSP00000317802:D777N;ENSP00000431129:D627N;ENSP00000433352:D777N|.	ENSP00000317802:D777N|.	D|G	+|+	1|2	0|0	LMO7|LMO7	75305266|75305266	1.000000|1.000000	0.71417|0.71417	0.681000|0.681000	0.30009|0.30009	0.953000|0.953000	0.61014|0.61014	3.897000|3.897000	0.56273|0.56273	0.749000|0.749000	0.32854|0.32854	0.650000|0.650000	0.86243|0.86243	GAT|GGA	-	LMO7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.398	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	0	0		91	91		0.00		G	NM_005358		76407265	+1	14		57		tier1	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	19.72		SNP	0.898	A	14	57
ZNRF4	148066	genome.wustl.edu	37	19	5456454	5456454	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5456454G>A	ENST00000222033.4	+	1	1029	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	318						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGAGTATGAGGAGGGCGACCA	0.627													ENSG00000105428																																					0													97.0	112.0	107.0					19																	5456454		2127	4238	6365	SO:0001583	missense	0			-	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.952G>A	19.37:g.5456454G>A	ENSP00000222033:p.Glu318Lys		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E318K	ENST00000222033.4	37	c.952	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004643	0.74932	.	.	ENSG00000105428	ENST00000222033	T	0.47177	0.85	4.55	3.43	0.39272	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.205056	0.39475	U	0.001347	T	0.51736	0.1692	L	0.37561	1.115	0.43211	D	0.995078	P	0.48503	0.911	P	0.59115	0.852	T	0.51332	-0.8719	10	0.49607	T	0.09	-20.1779	11.0562	0.47920	0.0:0.1887:0.8113:0.0	.	318	Q8WWF5	ZNRF4_HUMAN	K	318	ENSP00000222033:E318K	ENSP00000222033:E318K	E	+	1	0	ZNRF4	5407454	1.000000	0.71417	0.542000	0.28115	0.638000	0.38207	3.200000	0.51051	2.072000	0.62099	0.491000	0.48974	GAG	-	ZNRF4	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.627	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	0	0		23	23		0.00		G	NM_181710		5456454	+1	16		12		tier1	no_errors	ENST00000222033	ensembl	human	known	74_37	missense	57.14		SNP	0.999	A	16	12
COMMD1	150684	genome.wustl.edu	37	2	62373527	62373527	+	RNA	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:62373527G>T	ENST00000425966.2	-	0	171				AC018462.2_ENST00000421323.1_RNA																							Cggagcccttgatgtcctgca	0.478													ENSG00000229839																																					0																																												0			-																													2.37:g.62373527G>T				R	SNP	-	NULL	ENST00000425966.2	37	NULL		2																																																																																			-	AC018462.2	-	-		0.478	AC018462.2-001	KNOWN	basic	antisense	ENSG00000229839	Clone_based_vega_gene	antisense	OTTHUMT00000326542.3	0	0		36	36		0.00		G			62373527	-1	14		30		tier1	no_errors	ENST00000421323	ensembl	human	known	74_37	rna	31.82		SNP	1.000	T	14	30
TBC1D32	221322	genome.wustl.edu	37	6	121452831	121452831	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:121452831G>A	ENST00000398212.2	-	25	2890	c.2841C>T	c.(2839-2841)aaC>aaT	p.N947N	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Silent_p.N988N	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	947					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										GTCTTTGGCAGTTTTCTATCC	0.308													ENSG00000146350																																					0													105.0	97.0	100.0					6																	121452831		1804	4072	5876	SO:0001819	synonymous_variant	0			-	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2841C>T	6.37:g.121452831G>A			Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	superfamily_Rab-GTPase-TBC_dom	p.N988	ENST00000398212.2	37	c.2964	CCDS43501.1	6																																																																																			-	TBC1D32	-	NULL		0.308	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	0	0		69	69		0.00		G	NM_152730		121452831	-1	16		49		tier1	no_errors	ENST00000275159	ensembl	human	putative	74_37	silent	24.62		SNP	1.000	A	16	49
MRPL9	65005	genome.wustl.edu	37	1	151735297	151735297	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:151735297G>A	ENST00000368830.3	-	2	395				RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000321531.5_5'Flank|OAZ3_ENST00000315067.8_5'Flank|MRPL9_ENST00000467306.1_Intron|RP11-98D18.15_ENST00000601684.1_RNA|OAZ3_ENST00000479764.1_5'Flank|MRPL9_ENST00000368829.3_Intron|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTCAATGCTGGAGGCCAGTGT	0.418													ENSG00000143436																																					0																																										SO:0001627	intron_variant	0			-	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.310+168C>T	1.37:g.151735297G>A			B2RD99|Q5SZR2|Q9BSW8	R	SNP	-	NULL	ENST00000368830.3	37	NULL	CCDS1003.1	1																																																																																			-	MRPL9	-	-		0.418	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2	0	0		40	40		0.00		G	NM_031420		151735297	-1	22		38		tier1	no_errors	ENST00000462783	ensembl	human	known	74_37	rna	36.67		SNP	0.001	A	22	38
TNXB	7148	genome.wustl.edu	37	6	32017346	32017346	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32017346G>A	ENST00000375244.3	-	28	9659	c.9458C>T	c.(9457-9459)cCc>cTc	p.P3153L	TNXB_ENST00000375247.2_Missense_Mutation_p.P3151L			P22105	TENX_HUMAN	tenascin XB	3198	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTTCTGTGGGGCTGGGGGT	0.637													ENSG00000168477																																					0													33.0	37.0	36.0					6																	32017346		1171	2501	3672	SO:0001583	missense	0			-	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9458C>T	6.37:g.32017346G>A	ENSP00000364393:p.Pro3153Leu		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P3151L	ENST00000375244.3	37	c.9452		6	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923853	0.34002	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56941	0.57;0.43	4.03	4.03	0.46877	.	0.000000	0.46758	D	0.000278	T	0.27663	0.0680	L	0.53249	1.67	0.27505	N	0.951852	B	0.02656	0.0	B	0.06405	0.002	T	0.08513	-1.0718	10	0.27082	T	0.32	.	11.6038	0.51020	0.0:0.0:1.0:0.0	.	3151	P22105-3	.	L	3153;3151	ENSP00000364393:P3153L;ENSP00000364396:P3151L	ENSP00000364393:P3153L	P	-	2	0	TNXB	32125324	0.134000	0.22483	1.000000	0.80357	0.129000	0.20672	0.916000	0.28651	2.094000	0.63399	0.485000	0.47835	CCC	-	TNXB	-	NULL		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	0	0		85	85		0.00		G	NM_019105		32017346	-1	52		32		tier1	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	61.90		SNP	0.814	A	52	32
FSIP2	401024	genome.wustl.edu	37	2	186669298	186669298	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:186669298G>A	ENST00000424728.1	+	17	15265	c.15265G>A	c.(15265-15267)Gat>Aat	p.D5089N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D5178N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5089										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCCCCAAGCTGATAATATCAT	0.333													ENSG00000188738																																					0																																										SO:0001583	missense	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.15265G>A	2.37:g.186669298G>A	ENSP00000401306:p.Asp5089Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.D5178N	ENST00000424728.1	37	c.15532		2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207948	0.39003	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.42900	0.96;0.96	5.66	3.88	0.44766	.	.	.	.	.	T	0.32793	0.0841	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.23619	-1.0183	7	0.66056	D	0.02	.	8.8351	0.35107	0.1631:0.0:0.8369:0.0	.	.	.	.	N	5178;5089	ENSP00000344403:D5178N;ENSP00000401306:D5089N	ENSP00000344403:D5178N	D	+	1	0	FSIP2	186377543	0.997000	0.39634	0.031000	0.17742	0.013000	0.08279	3.237000	0.51344	0.762000	0.33152	-0.482000	0.04802	GAT	-	FSIP2	-	NULL		0.333	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0		20	20		0.00		G	NM_173651		186669298	+1	9		24		tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	27.27		SNP	0.058	A	9	24
RYR2	6262	genome.wustl.edu	37	1	237995922	237995922	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237995922A>C	ENST00000366574.2	+	105	15196	c.14879A>C	c.(14878-14880)aAa>aCa	p.K4960T	RYR2_ENST00000542537.1_Missense_Mutation_p.K4944T|RYR2_ENST00000360064.6_Missense_Mutation_p.K4966T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4960					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)			TGCTTCCGGAAACAGTATGAA	0.418													ENSG00000198626																																					0													74.0	72.0	72.0					1																	237995922		1847	4121	5968	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.14879A>C	1.37:g.237995922A>C	ENSP00000355533:p.Lys4960Thr		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.K4966T	ENST00000366574.2	37	c.14897	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.042697	0.75732	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97430	-4.38;-4.34;-4.37	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000011	D	0.98492	0.9497	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.99686	1.1000	10	0.87932	D	0	-19.1416	15.1571	0.72752	1.0:0.0:0.0:0.0	.	4960	Q92736	RYR2_HUMAN	T	4960;4966;4944	ENSP00000355533:K4960T;ENSP00000353174:K4966T;ENSP00000443798:K4944T	ENSP00000353174:K4966T	K	+	2	0	RYR2	236062545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.709000	0.91379	2.162000	0.67917	0.533000	0.62120	AAA	-	RYR2	-	NULL		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0		96	96		0.00		A	NM_001035		237995922	+1	24		125		tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	16.11		SNP	1.000	C	24	125
MUC5B	727897	genome.wustl.edu	37	11	1264737	1264737	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1264737G>A	ENST00000529681.1	+	31	6685	c.6627G>A	c.(6625-6627)acG>acA	p.T2209T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2212T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2209	7 X Cys-rich subdomain repeats.|Thr-rich.				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)		GTCCCCACACGGTGCGCACAG	0.662													ENSG00000117983																																					0													71.0	80.0	77.0					11																	1264737		2034	4159	6193	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.6627G>A	11.37:g.1264737G>A			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.T2212	ENST00000529681.1	37	c.6636	CCDS44515.2	11																																																																																			-	MUC5B	-	NULL		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	0	0		68	68		0.00		G	XM_001126093		1264737	+1	23		67		tier1	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	25.56		SNP	0.000	A	23	67
ANK1	286	genome.wustl.edu	37	8	41530214	41530214	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41530214A>T	ENST00000347528.4	-	38	4837	c.4754T>A	c.(4753-4755)cTg>cAg	p.L1585Q	ANK1_ENST00000396942.1_Missense_Mutation_p.L1585Q|ANK1_ENST00000352337.4_Missense_Mutation_p.L1585Q|ANK1_ENST00000289734.7_Missense_Mutation_p.L1585Q|ANK1_ENST00000265709.8_Missense_Mutation_p.L1626Q|ANK1_ENST00000379758.2_Missense_Mutation_p.L1585Q|ANK1_ENST00000396945.1_Missense_Mutation_p.L1585Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1585	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTACACTCCAGAGAGGAGTC	0.617													ENSG00000029534																																					0													70.0	70.0	70.0					8																	41530214		2203	4300	6503	SO:0001583	missense	0			-	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4754T>A	8.37:g.41530214A>T	ENSP00000339620:p.Leu1585Gln		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	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.L1585Q	ENST00000347528.4	37	c.4754	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093880	0.76870	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.74632	-0.85;-0.86;-0.81;-0.83;-0.83;-0.76;-0.82	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000009	D	0.82398	0.5028	L	0.59436	1.845	0.58432	D	0.999995	D;D;D;D	0.69078	0.997;0.992;0.996;0.997	D;D;D;D	0.72625	0.973;0.934;0.978;0.973	T	0.81931	-0.0707	10	0.40728	T	0.16	.	13.2508	0.60050	1.0:0.0:0.0:0.0	.	1626;1585;1585;1585	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	Q	1585;1585;1585;1585;1585;1585;1626	ENSP00000339620:L1585Q;ENSP00000289734:L1585Q;ENSP00000369082:L1585Q;ENSP00000380149:L1585Q;ENSP00000380147:L1585Q;ENSP00000309131:L1585Q;ENSP00000265709:L1626Q	ENSP00000265709:L1626Q	L	-	2	0	ANK1	41649371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.888000	0.92464	2.129000	0.65627	0.451000	0.29950	CTG	-	ANK1	-	NULL		0.617	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	0	0		17	17		0.00		A	NM_020475		41530214	-1	6		22		tier1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	21.43		SNP	1.000	T	6	22
CNP	1267	genome.wustl.edu	37	17	40120360	40120360	+	Missense_Mutation	SNP	G	G	A	rs374975038		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:40120360G>A	ENST00000393892.3	+	2	422	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	CNP_ENST00000591072.1_Intron|CNP_ENST00000472031.1_Intron|TTC25_ENST00000591658.1_RNA|CNP_ENST00000592446.1_3'UTR|CNP_ENST00000393888.1_Missense_Mutation_p.R73Q	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	93					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CCCGGCGCTCGAGGAGCCTTC	0.607													ENSG00000173786																																					0								G	GLN/ARG	2,4078		0,2,2038	25.0	29.0	28.0		278	3.8	0.1	17		28	0,8356		0,0,4178	no	missense	CNP	NM_033133.4	43	0,2,6216	AA,AG,GG		0.0,0.049,0.0161	probably-damaging	93/422	40120360	2,12434	2040	4178	6218	SO:0001583	missense	0			-		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.278G>A	17.37:g.40120360G>A	ENSP00000377470:p.Arg93Gln			Missense_Mutation	SNP	pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_R_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase	p.R93Q	ENST00000393892.3	37	c.278	CCDS11414.2	17	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107036	0.56291	4.9E-4	0.0	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.42131	0.98;0.98	4.83	3.83	0.44106	Zeta toxin domain (1);	0.129130	0.51477	D	0.000085	T	0.35998	0.0951	L	0.60067	1.865	0.58432	D	0.999999	P;B;B	0.49307	0.922;0.275;0.232	B;B;B	0.36845	0.234;0.033;0.039	T	0.42582	-0.9443	10	0.48119	T	0.1	-14.4685	13.6299	0.62189	0.077:0.0:0.923:0.0	.	93;93;73	B4DI06;P09543;P09543-2	.;CN37_HUMAN;.	Q	93;93;73	ENSP00000377470:R93Q;ENSP00000377466:R73Q	ENSP00000309643:R93Q	R	+	2	0	CNP	37373886	0.600000	0.26899	0.090000	0.20809	0.994000	0.84299	2.454000	0.44979	2.510000	0.84645	0.455000	0.32223	CGA	-	CNP	-	pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_CNPase		0.607	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNP	HGNC	protein_coding	OTTHUMT00000257443.2	0	0		56	56		0.00		G			40120360	+1	38		41		tier1	no_errors	ENST00000393892	ensembl	human	known	74_37	missense	47.50		SNP	0.285	A	38	41
LRRC31	79782	genome.wustl.edu	37	3	169571446	169571446	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:169571446G>A	ENST00000316428.5	-	6	1049				LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Intron	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31											cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GCTCAAAAAGGGATTATTTTG	0.368													ENSG00000114248																																					0																																										SO:0001627	intron_variant	0			-	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.991+1154C>T	3.37:g.169571446G>A			B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	R	SNP	-	NULL	ENST00000316428.5	37	NULL	CCDS43167.1	3																																																																																			-	LRRC31	-	-		0.368	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	0	0		62	62		0.00		G	NM_024727		169571446	-1	27		55		tier1	no_errors	ENST00000397805	ensembl	human	known	74_37	rna	32.93		SNP	0.000	A	27	55
ARHGAP21	57584	genome.wustl.edu	37	10	24889637	24889637	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:24889637C>T	ENST00000396432.2	-	14	3556	c.3070G>A	c.(3070-3072)Gac>Aac	p.D1024N	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D811N|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1023	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCATCTCTGTCTTCAGCCTGA	0.458													ENSG00000107863																																					0													147.0	137.0	140.0					10																	24889637		2203	4300	6503	SO:0001583	missense	0			-	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3070G>A	10.37:g.24889637C>T	ENSP00000379709:p.Asp1024Asn		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D1024N	ENST00000396432.2	37	c.3070	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710496	0.89018	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.095285	0.64402	D	0.000001	D	0.86209	0.5878	L	0.35644	1.08	0.53688	D	0.999976	P;D	0.76494	0.947;0.999	P;D	0.76071	0.906;0.987	D	0.84363	0.0539	10	0.41790	T	0.15	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1014;1023	F8W9U9;Q5T5U3	.;RHG21_HUMAN	N	1024;811;1014;1024;859	ENSP00000379709:D1024N;ENSP00000365604:D811N;ENSP00000365592:D1014N;ENSP00000405018:D1024N	ENSP00000365604:D811N	D	-	1	0	ARHGAP21	24929643	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	6.041000	0.70988	2.865000	0.98341	0.655000	0.94253	GAC	-	ARHGAP21	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	0	0		102	102		0.00		C	NM_020824		24889637	-1	40		44		tier1	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	47.62		SNP	1.000	T	40	44
LOC101927209	101927209	genome.wustl.edu	37	1	142621282	142621282	+	lincRNA	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:142621282A>T	ENST00000610091.1	-	0	6364				RP11-417J8.3_ENST00000426408.1_lincRNA																							ccgagacaaaaaaggcagtca	0.438													ENSG00000230880																																					0																																												0			-																													1.37:g.142621282A>T				R	SNP	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			-	RP11-417J8.3	-	-		0.438	RP11-417J8.6-001	KNOWN	basic	lincRNA	LOC101927209	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2	0	0		83	83		0.00		A			142621282	+1	8		79		tier1	no_errors	ENST00000412092	ensembl	human	known	74_37	rna	9.20		SNP	0.016	T	8	79
KCNH8	131096	genome.wustl.edu	37	3	19575314	19575314	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:19575314C>T	ENST00000328405.2	+	16	3313	c.3047C>T	c.(3046-3048)tCa>tTa	p.S1016L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1016	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCTCCACATTCAGATTCTACG	0.443													ENSG00000183960																									NSCLC(124;1625 1765 8018 24930 42026)												0													253.0	246.0	248.0					3																	19575314		2203	4300	6503	SO:0001583	missense	0			-	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3047C>T	3.37:g.19575314C>T	ENSP00000328813:p.Ser1016Leu		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tR-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.S1016L	ENST00000328405.2	37	c.3047	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177809	0.78564	.	.	ENSG00000183960	ENST00000328405	D	0.99136	-5.47	5.72	5.72	0.89469	.	0.000000	0.27482	U	0.019174	D	0.98966	0.9648	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.99802	1.1036	9	.	.	.	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	1016	Q96L42	KCNH8_HUMAN	L	1016	ENSP00000328813:S1016L	.	S	+	2	0	KCNH8	19550318	1.000000	0.71417	0.985000	0.45067	0.931000	0.56810	4.078000	0.57606	2.703000	0.92315	0.655000	0.94253	TCA	-	KCNH8	-	NULL		0.443	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	0	0		35	35		0.00		C	NM_144633		19575314	+1	9		33		tier1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	21.43		SNP	1.000	T	9	33
TOR1A	1861	genome.wustl.edu	37	9	132576163	132576163	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:132576163G>A	ENST00000351698.4	-	0	1135					NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)						ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CTCTTCCAGGGAAAGGAGCTG	0.537													ENSG00000136827																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.*88C>T	9.37:g.132576163G>A			B2RB58|Q53Y64|Q96CA0	R	SNP	-	NULL	ENST00000351698.4	37	NULL	CCDS6930.1	9																																																																																			-	TOR1A	-	-		0.537	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1	0	0		30	30		0.00		G	NM_000113		132576163	-1	16		23		tier1	no_errors	ENST00000474192	ensembl	human	known	74_37	rna	41.03		SNP	0.000	A	16	23
UBIAD1	29914	genome.wustl.edu	37	1	11345888	11345888	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:11345888C>T	ENST00000376810.5	+	2	1043	c.717C>T	c.(715-717)tcC>tcT	p.S239S	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	239					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACATGGAGTCCGACCGGGAGG	0.597													ENSG00000120942																																					0													171.0	122.0	138.0					1																	11345888		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.717C>T	1.37:g.11345888C>T			B3KQG3|Q53GX3|Q5THD4	Silent	SNP	pfam_UbiA_prenyltransferase	p.S239	ENST00000376810.5	37	c.717	CCDS129.1	1																																																																																			-	UBIAD1	-	pfam_UbiA_prenyltransferase		0.597	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBIAD1	HGNC	protein_coding	OTTHUMT00000005773.1	0	0		27	27		0.00		C	NM_013319		11345888	+1	19		39		tier1	no_errors	ENST00000376810	ensembl	human	known	74_37	silent	32.76		SNP	0.013	T	19	39
MGAM	8972	genome.wustl.edu	37	7	141758064	141758064	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:141758064G>A	ENST00000549489.2	+	31	3850	c.3755G>A	c.(3754-3756)gGc>gAc	p.G1252D	MGAM_ENST00000475668.2_Missense_Mutation_p.G1252D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1252	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTCGCTATGGCTACCAGAAT	0.468													ENSG00000257335																																					0													244.0	236.0	239.0					7																	141758064		1958	4159	6117	SO:0001583	missense	0			-	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3755G>A	7.37:g.141758064G>A	ENSP00000447378:p.Gly1252Asp		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G1252D	ENST00000549489.2	37	c.3755	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	g	15.36	2.810184	0.50421	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93659	-3.26	3.72	3.72	0.42706	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.96965	0.9009	M	0.90759	3.145	0.48632	D	0.999688	D	0.76494	0.999	D	0.77557	0.99	D	0.97758	1.0219	9	0.72032	D	0.01	.	14.3362	0.66592	0.0:0.0:1.0:0.0	.	1252	O43451	MGA_HUMAN	D	1252;1252;1129	ENSP00000447378:G1252D	ENSP00000316431:G1129D	G	+	2	0	MGAM	141404533	1.000000	0.71417	0.884000	0.34674	0.067000	0.16453	9.518000	0.98022	1.623000	0.50342	0.173000	0.16961	GGC	-	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	0	0		72	72		0.00		G			141758064	+1	28		76		tier1	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	26.92		SNP	1.000	A	28	76
G0S2	50486	genome.wustl.edu	37	1	209849252	209849252	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:209849252C>T	ENST00000367029.4	+	2	385	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	75					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		GCGACAGGCTCTCCAGAAGCA	0.687													ENSG00000123689																																					0													15.0	18.0	17.0					1																	209849252		2199	4293	6492	SO:0001583	missense	0			-		CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"""putative lymphocyte G0/G1 switch gene"""	614447	"""G0/G1switch 2"""			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.223C>T	1.37:g.209849252C>T	ENSP00000355996:p.Leu75Phe		Q6FGC8	Missense_Mutation	SNP	NULL	p.L75F	ENST00000367029.4	37	c.223	CCDS1488.1	1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297538	0.60086	.	.	ENSG00000123689	ENST00000367029	.	.	.	4.16	0.883	0.19177	.	1.335560	0.06034	U	0.653717	T	0.33876	0.0878	L	0.27053	0.805	0.09310	N	1	D	0.54207	0.965	P	0.51135	0.66	T	0.30534	-0.9975	9	0.46703	T	0.11	-1.4981	6.1896	0.20516	0.1401:0.6504:0.1236:0.0859	.	75	P27469	G0S2_HUMAN	F	75	.	ENSP00000355996:L75F	L	+	1	0	G0S2	207915875	0.000000	0.05858	0.003000	0.11579	0.747000	0.42532	-0.034000	0.12225	0.749000	0.32854	0.313000	0.20887	CTC	-	G0S2	-	NULL		0.687	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G0S2	HGNC	protein_coding	OTTHUMT00000088732.1	0	0		42	42		0.00		C	NM_015714		209849252	+1	32		46		tier1	no_errors	ENST00000367029	ensembl	human	known	74_37	missense	41.03		SNP	0.000	T	32	46
CCT5	22948	genome.wustl.edu	37	5	10262666	10262666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:10262666delT	ENST00000280326.4	+	9	1673	c.1253delT	c.(1252-1254)gtgfs	p.V419fs	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Frame_Shift_Del_p.V381fs|CCT5_ENST00000506600.1_Frame_Shift_Del_p.V326fs|CCT5_ENST00000503026.1_Frame_Shift_Del_p.V398fs|CCT5_ENST00000515390.1_Frame_Shift_Del_p.V364fs	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	419					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GATAATCGTGTGGTGTATGGA	0.498													ENSG00000150753																																					0													173.0	140.0	151.0					5																	10262666		2203	4300	6503	SO:0001589	frameshift_variant	0				D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1253delT	5.37:g.10262666delT	ENSP00000280326:p.Val419fs		A8JZY8|A8K2X8|B4DYD8	Frame_Shift_Del	DEL	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.V418fs	ENST00000280326.4	37	c.1253	CCDS3877.1	5																																																																																				CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi		0.498	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	0	0		82	82		0.00		T			10262666	+1	27		63		tier1	no_errors	ENST00000280326	ensembl	human	known	74_37	frame_shift_del	30.00		DEL	0.988	-	27	63
SLITRK6	84189	genome.wustl.edu	37	13	86368336	86368336	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:86368336C>T	ENST00000400286.2	-	2	2906	c.2308G>A	c.(2308-2310)Gga>Aga	p.G770R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	770					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCTGTGATTCCCAGTTGCTGA	0.403													ENSG00000184564																																					0													197.0	183.0	187.0					13																	86368336		1843	4095	5938	SO:0001583	missense	0			-	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2308G>A	13.37:g.86368336C>T	ENSP00000383143:p.Gly770Arg		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G770R	ENST00000400286.2	37	c.2308	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776773	0.70107	.	.	ENSG00000184564	ENST00000400286	T	0.68479	-0.33	5.84	5.84	0.93424	.	0.084019	0.48767	U	0.000177	T	0.72692	0.3492	N	0.19112	0.55	0.53688	D	0.999977	D	0.89917	1.0	D	0.76575	0.988	T	0.76228	-0.3036	10	0.87932	D	0	-11.6923	18.719	0.91686	0.0:1.0:0.0:0.0	.	770	Q9H5Y7	SLIK6_HUMAN	R	770	ENSP00000383143:G770R	ENSP00000383143:G770R	G	-	1	0	SLITRK6	85266337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.491000	0.60326	2.760000	0.94817	0.655000	0.94253	GGA	-	SLITRK6	-	NULL		0.403	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	0	0		50	50		0.00		C	NM_032229		86368336	-1	7		15		tier1	no_errors	ENST00000400286	ensembl	human	known	74_37	missense	31.82		SNP	1.000	T	7	15
NIPSNAP3B	55335	genome.wustl.edu	37	9	107526483	107526483	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:107526483G>A	ENST00000374762.3	+	0	33				NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCTCACAAAGGACTCGGCTGG	0.632													ENSG00000165028																																					0													10.0	11.0	11.0					9																	107526483		2198	4293	6491	SO:0001623	5_prime_UTR_variant	0			-	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.-39G>A	9.37:g.107526483G>A			Q5VX30|Q9NUM2	R	SNP	-	NULL	ENST00000374762.3	37	NULL	CCDS6761.1	9																																																																																			-	NIPSP3B	-	-		0.632	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSP3B	HGNC	protein_coding	OTTHUMT00000053486.1	0	0		43	43		0.00		G	NM_018376		107526483	+1	20		37		tier1	no_errors	ENST00000461177	ensembl	human	known	74_37	rna	35.09		SNP	0.000	A	20	37
MDH1B	130752	genome.wustl.edu	37	2	207621643	207621643	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:207621643G>A	ENST00000374412.3	-	4	667	c.392C>T	c.(391-393)cCc>cTc	p.P131L	MDH1B_ENST00000449792.1_Missense_Mutation_p.P33L|MDH1B_ENST00000392214.2_Missense_Mutation_p.P131L|MDH1B_ENST00000454776.2_Missense_Mutation_p.P131L	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	131					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GACCTGCAAGGGGTTGATGCA	0.428													ENSG00000138400																									Pancreas(76;29 1355 28675 37177 51207)												0													114.0	103.0	107.0					2																	207621643		2203	4300	6503	SO:0001583	missense	0			-		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.392C>T	2.37:g.207621643G>A	ENSP00000363533:p.Pro131Leu		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.P131L	ENST00000374412.3	37	c.392	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547855	0.45383	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.46063	0.88;0.88;0.88;1.26	6.08	6.08	0.98989	NAD(P)-binding domain (1);	0.053759	0.85682	D	0.000000	T	0.54143	0.1840	M	0.85041	2.73	0.58432	D	0.999999	P;B	0.36683	0.565;0.43	B;B	0.35971	0.215;0.14	T	0.60870	-0.7177	10	0.87932	D	0	-12.1609	20.6634	0.99662	0.0:0.0:1.0:0.0	.	131;131	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	L	131;33;131;131	ENSP00000363533:P131L;ENSP00000416577:P33L;ENSP00000389916:P131L;ENSP00000376049:P131L	ENSP00000363533:P131L	P	-	2	0	MDH1B	207329888	1.000000	0.71417	0.803000	0.32268	0.018000	0.09664	6.337000	0.72958	2.894000	0.99253	0.655000	0.94253	CCC	-	MDH1B	-	NULL		0.428	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	0	0		67	67		0.00		G	NM_001039845		207621643	-1	23		29		tier1	no_errors	ENST00000374412	ensembl	human	known	74_37	missense	44.23		SNP	0.976	A	23	29
DNM1	1759	genome.wustl.edu	37	9	131008733	131008733	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:131008733G>A	ENST00000372923.3	+	16	1824	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	DNM1_ENST00000486160.1_Missense_Mutation_p.G578S|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.G578S|DNM1_ENST00000341179.7_Missense_Mutation_p.G578S|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000393594.3_Missense_Mutation_p.G578S	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CGTGGAGAAGGGCTTTATGTC	0.562													ENSG00000106976																									GBM(113;146 1575 2722 28670 29921)												0													213.0	155.0	175.0					9																	131008733		2203	4300	6503	SO:0001583	missense	0			-	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1732G>A	9.37:g.131008733G>A	ENSP00000362014:p.Gly578Ser		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.G578S	ENST00000372923.3	37	c.1732	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312362	0.60414	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.062597	0.64402	D	0.000005	T	0.65450	0.2692	L	0.39147	1.195	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.009;0.005	T	0.62369	-0.6869	10	0.41790	T	0.15	-16.1089	12.3027	0.54884	0.0817:0.0:0.9183:0.0	.	578;578	Q05193;Q05193-3	DYN1_HUMAN;.	S	578;578;578;573;578;578;123	ENSP00000419225:G578S;ENSP00000345680:G578S;ENSP00000362014:G578S;ENSP00000377219:G578S;ENSP00000420045:G578S	ENSP00000345680:G578S	G	+	1	0	DNM1	130048554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.375000	0.73137	2.436000	0.82500	0.498000	0.49722	GGC	-	DNM1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.562	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	0	0		49	49		0.00		G	NM_004408		131008733	+1	15		41		tier1	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	26.79		SNP	1.000	A	15	41
CHD1L	9557	genome.wustl.edu	37	1	146736135	146736135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:146736135C>T	ENST00000369258.4	+	7	651	c.631C>T	c.(631-633)Caa>Taa	p.Q211*	CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.Q211*|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	211	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GAACAGCCTCCAAGAGCTCTA	0.408													ENSG00000131778																																					0													72.0	68.0	69.0					1																	146736135		2203	4300	6503	SO:0001587	stop_gained	0			-	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.631C>T	1.37:g.146736135C>T	ENSP00000358262:p.Gln211*		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q211*	ENST00000369258.4	37	c.631	CCDS927.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.629770	0.96671	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	.	.	.	5.27	5.27	0.74061	.	0.053400	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.743	0.69469	0.0:1.0:0.0:0.0	.	.	.	.	X	211;211;111;172	.	ENSP00000254086:Q172X	Q	+	1	0	CHD1L	145202759	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.120000	0.64685	2.621000	0.88768	0.650000	0.86243	CAA	-	CHD1L	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.408	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1	0	0		58	58		0.00		C	NM_004284		146736135	+1	28		44		tier1	no_errors	ENST00000369258	ensembl	human	known	74_37	nonsense	38.36		SNP	1.000	T	28	44
STAB1	23166	genome.wustl.edu	37	3	52538553	52538553	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52538553C>T	ENST00000321725.6	+	11	1303	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	409	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTTCTCCTCCAGGACCATGA	0.642													ENSG00000010327																																					0													80.0	77.0	78.0					3																	52538553		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1227C>T	3.37:g.52538553C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S409	ENST00000321725.6	37	c.1227	CCDS33768.1	3																																																																																			-	STAB1	-	superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	0	0		45	45		0.00		C	NM_015136		52538553	+1	12		64		tier1	no_errors	ENST00000321725	ensembl	human	known	74_37	silent	15.79		SNP	0.196	T	12	64
SLC8A3	6547	genome.wustl.edu	37	14	70515509	70515509	+	Silent	SNP	G	G	A	rs368263429		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:70515509G>A	ENST00000381269.2	-	7	3135	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F	SLC8A3_ENST00000394330.2_Silent_p.F151F|SLC8A3_ENST00000356921.2_Silent_p.F788F|SLC8A3_ENST00000528359.1_Silent_p.F792F|SLC8A3_ENST00000533541.1_Silent_p.F151F|SLC8A3_ENST00000216568.7_Silent_p.F165F|SLC8A3_ENST00000534137.1_Silent_p.F791F|SLC8A3_ENST00000357887.3_Silent_p.F792F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	794					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAATGCCACGAAAACAACAG	0.507													ENSG00000100678																																					0								G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	60.0	48.0	52.0		495,2376,2373,2364,453,2382	-5.2	0.9	14		52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC8A3	NM_001130417.1,NM_033262.3,NM_058240.2,NM_182932.1,NM_182936.1,NM_183002.1	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	165/299,792/926,791/925,788/922,151/285,794/928	70515509	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2382C>T	14.37:g.70515509G>A			Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.F794	ENST00000381269.2	37	c.2382	CCDS35498.1	14																																																																																			-	SLC8A3	-	pfam_NaCa_Exmemb,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex		0.507	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	0	0		66	66		0.00		G			70515509	-1	14		51		tier1	no_errors	ENST00000381269	ensembl	human	known	74_37	silent	21.54		SNP	0.742	A	14	51
ILF3	3609	genome.wustl.edu	37	19	10798043	10798043	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10798043G>A	ENST00000590261.1	+	17	2081	c.2081G>A	c.(2080-2082)gGg>gAg	p.G694E	ILF3_ENST00000449870.1_Missense_Mutation_p.G698E|ILF3_ENST00000318511.3_Missense_Mutation_p.G694E|ILF3_ENST00000588657.1_Missense_Mutation_p.G698E			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	694	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGCAACGGAGGGCATTCTGGG	0.652													ENSG00000129351																																					0													13.0	14.0	14.0					19																	10798043		2133	4115	6248	SO:0001583	missense	0			-	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2081G>A	19.37:g.10798043G>A	ENSP00000468156:p.Gly694Glu		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsR-bd_dom,smart_DZF,smart_dsR-bd_dom,pfscan_dsR-bd_dom	p.G698E	ENST00000590261.1	37	c.2093	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680509	0.68042	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.19250	2.17;2.16	4.92	4.92	0.64577	.	0.256692	0.36482	N	0.002580	T	0.36054	0.0953	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.14952	-1.0454	10	0.72032	D	0.01	.	17.0382	0.86482	0.0:0.0:1.0:0.0	.	698;694	G5E9M5;Q12906	.;ILF3_HUMAN	E	698;694	ENSP00000404121:G698E;ENSP00000315205:G694E	ENSP00000315205:G694E	G	+	2	0	ILF3	10659043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.152000	0.71812	2.545000	0.85829	0.655000	0.94253	GGG	-	ILF3	-	NULL		0.652	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	0	0		55	55		0.00		G			10798043	+1	16		41		tier1	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	28.07		SNP	1.000	A	16	41
ARIH2	10425	genome.wustl.edu	37	3	49005982	49005982	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49005982C>T	ENST00000356401.4	+	7	893	c.554C>T	c.(553-555)gCt>gTt	p.A185V	ARIH2_ENST00000449376.1_Missense_Mutation_p.A185V|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	185					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCTTGCATGGCTCAGGACTGT	0.507													ENSG00000177479																																					0													149.0	139.0	142.0					3																	49005982		2203	4300	6503	SO:0001583	missense	0			-	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.554C>T	3.37:g.49005982C>T	ENSP00000348769:p.Ala185Val		Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.A185V	ENST00000356401.4	37	c.554	CCDS2780.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.325508	0.95708	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	D;D	0.83673	-1.75;-1.75	5.95	5.07	0.68467	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	M	0.65498	2.005	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.992	P;D;P	0.68192	0.714;0.956;0.818	D	0.89229	0.3576	10	0.40728	T	0.16	.	17.2612	0.87070	0.0:0.8744:0.1256:0.0	.	192;185;185	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	V	185;185;184;9	ENSP00000348769:A185V;ENSP00000403222:A185V	ENSP00000348769:A185V	A	+	2	0	ARIH2	48980986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.755000	0.68750	1.503000	0.48686	0.655000	0.94253	GCT	-	ARIH2	-	pfscan_Znf_RING		0.507	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	0	0		43	43		0.00		C	NM_006321		49005982	+1	30		47		tier1	no_errors	ENST00000356401	ensembl	human	known	74_37	missense	38.96		SNP	1.000	T	30	47
TM4SF1	4071	genome.wustl.edu	37	3	149089530	149089530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:149089530G>A	ENST00000305366.3	-	4	855	c.538C>T	c.(538-540)Caa>Taa	p.Q180*	TM4SF1_ENST00000472441.1_Nonsense_Mutation_p.Q91*	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	180						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTTATTACTTGAATAAGACAC	0.438													ENSG00000169908																																					0													134.0	126.0	129.0					3																	149089530		2203	4300	6503	SO:0001587	stop_gained	0			-	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.538C>T	3.37:g.149089530G>A	ENSP00000304277:p.Gln180*		Q6IB51	Nonsense_Mutation	SNP	pfam_L6_membrane	p.Q180*	ENST00000305366.3	37	c.538	CCDS3143.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.675214	0.97755	.	.	ENSG00000169908	ENST00000305366;ENST00000472441;ENST00000383054	.	.	.	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.0621	20.3213	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	X	180;91;180	.	ENSP00000304277:Q180X	Q	-	1	0	TM4SF1	150572220	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	7.700000	0.84556	2.810000	0.96702	0.650000	0.86243	CAA	-	TM4SF1	-	pfam_L6_membrane		0.438	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF1	HGNC	protein_coding	OTTHUMT00000356368.1	0	0		65	65		0.00		G			149089530	-1	21		55		tier1	no_errors	ENST00000305366	ensembl	human	known	74_37	nonsense	27.63		SNP	1.000	A	21	55
L3MBTL3	84456	genome.wustl.edu	37	6	130413988	130413988	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:130413988C>T	ENST00000529410.1	+	19	2096	c.1617C>T	c.(1615-1617)ccC>ccT	p.P539P	L3MBTL3_ENST00000533560.1_Silent_p.P514P|L3MBTL3_ENST00000368136.2_Silent_p.P539P|L3MBTL3_ENST00000368139.2_Silent_p.P514P|L3MBTL3_ENST00000526019.1_Silent_p.P514P|L3MBTL3_ENST00000361794.2_Silent_p.P539P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	539					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CAGGACATCCCCTTCAGCCTC	0.398													ENSG00000198945																																					0													134.0	123.0	127.0					6																	130413988		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1617C>T	6.37:g.130413988C>T			Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.P539	ENST00000529410.1	37	c.1617	CCDS34537.1	6																																																																																			-	L3MBTL3	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.398	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	0	0		92	92		0.00		C	XM_027074		130413988	+1	34		88		tier1	no_errors	ENST00000361794	ensembl	human	known	74_37	silent	27.87		SNP	0.978	T	34	88
SMG6	23293	genome.wustl.edu	37	17	2075957	2075957	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:2075957C>A	ENST00000263073.6	-	13	3402	c.3352G>T	c.(3352-3354)Gat>Tat	p.D1118Y	SMG6_ENST00000544865.1_Missense_Mutation_p.D1087Y|SMG6_ENST00000354901.4_Missense_Mutation_p.D210Y|SMG6_ENST00000536871.2_Missense_Mutation_p.D210Y	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1118					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGACCTTATCCGAGGTTTTC	0.527													ENSG00000070366																									Melanoma(59;28 1088 11621 25887 46638 50814)												0													69.0	67.0	68.0					17																	2075957		2203	4300	6503	SO:0001583	missense	0			-	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3352G>T	17.37:g.2075957C>A	ENSP00000263073:p.Asp1118Tyr		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PIN_dom	p.D1118Y	ENST00000263073.6	37	c.3352	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885963	0.72410	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.23950	1.88;1.88;1.88	6.02	6.02	0.97574	.	0.118434	0.56097	D	0.000036	T	0.31765	0.0807	L	0.27053	0.805	0.58432	D	0.999994	P	0.44380	0.834	P	0.49752	0.621	T	0.01702	-1.1292	10	0.72032	D	0.01	-4.6251	18.719	0.91686	0.0:1.0:0.0:0.0	.	1118	Q86US8	EST1A_HUMAN	Y	1118;1087;210	ENSP00000263073:D1118Y;ENSP00000443920:D1087Y;ENSP00000440283:D210Y	ENSP00000263073:D1118Y	D	-	1	0	SMG6	2022707	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.711000	0.54868	2.863000	0.98299	0.549000	0.68633	GAT	-	SMG6	-	NULL		0.527	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	0	0		94	94		0.00		C			2075957	-1	88		55		tier1	no_errors	ENST00000263073	ensembl	human	known	74_37	missense	61.54		SNP	1.000	A	88	55
PCSK2	5126	genome.wustl.edu	37	20	17462554	17462554	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:17462554G>A	ENST00000262545.2	+	12	2071	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	PCSK2_ENST00000536609.1_Missense_Mutation_p.E551K|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.E567K	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	586					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTGCTGAAGGAGTGGACCCT	0.617													ENSG00000125851																																					0													35.0	34.0	34.0					20																	17462554		2203	4300	6503	SO:0001583	missense	0			-	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1756G>A	20.37:g.17462554G>A	ENSP00000262545:p.Glu586Lys		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E586K	ENST00000262545.2	37	c.1756	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867433	0.72065	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.63580	-0.05;-0.05;-0.05	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	L	0.41824	1.3	0.80722	D	1	B;B;B	0.31655	0.334;0.334;0.256	B;B;B	0.42245	0.381;0.268;0.304	T	0.63902	-0.6532	10	0.54805	T	0.06	-43.9631	18.6061	0.91266	0.0:0.0:1.0:0.0	.	551;567;586	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	K	567;586;551	ENSP00000367131:E567K;ENSP00000262545:E586K;ENSP00000437458:E551K	ENSP00000262545:E586K	E	+	1	0	PCSK2	17410554	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	GAG	-	PCSK2	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like		0.617	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	0	0		37	37		0.00		G	NM_002594		17462554	+1	16		46		tier1	no_errors	ENST00000262545	ensembl	human	known	74_37	missense	25.81		SNP	1.000	A	16	46
KIF1A	547	genome.wustl.edu	37	2	241696866	241696866	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:241696866C>T	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_Missense_Mutation_p.E910K	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		tcctcctcctcctcctccccc	0.682													ENSG00000130294																																					0																																										SO:0001627	intron_variant	0			-	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+910G>A	2.37:g.241696866C>T			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E910K	ENST00000320389.7	37	c.2728	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775202	0.49786	.	.	ENSG00000130294	ENST00000498729;ENST00000373308;ENST00000404283	T;T	0.72725	-0.6;-0.68	3.72	3.72	0.42706	.	.	.	.	.	T	0.60702	0.2289	.	.	.	0.38920	D	0.957724	P;B	0.35982	0.531;0.435	B;B	0.34873	0.107;0.191	T	0.64453	-0.6404	8	0.37606	T	0.19	.	12.9771	0.58544	0.0:1.0:0.0:0.0	.	910;910	F5H045;Q12756-2	.;.	K	910	ENSP00000438388:E910K;ENSP00000384231:E910K	ENSP00000362405:E910K	E	-	1	0	KIF1A	241345539	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.586000	0.46119	1.925000	0.55765	0.313000	0.20887	GAG	-	KIF1A	-	NULL		0.682	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	0	0		32	32		0.00		C	NM_138483		241696866	-1	6		25		tier1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	19.35		SNP	1.000	T	6	25
KCND3	3752	genome.wustl.edu	37	1	112533638	112533638	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:112533638G>A	ENST00000315987.2	-	0	0				RP11-88H9.2_ENST00000438293.1_lincRNA|KCND3_ENST00000302127.4_5'Flank	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3						cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCGCGCAAAGGGCGCAGTCCC	0.721													ENSG00000231437																																					0																																										SO:0001631	upstream_gene_variant	0			-	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989		1.37:g.112533638G>A	Exception_encountered		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	R	SNP	-	NULL	ENST00000315987.2	37	NULL	CCDS843.1	1																																																																																			-	RP11-88H9.2	-	-		0.721	KCND3-001	KNOWN	basic|CCDS	protein_coding	ENSG00000231437	Clone_based_vega_gene	protein_coding	OTTHUMT00000033144.1	0	0		22	22		0.00		G	NM_172198		112533638	+1	18		30		tier1	no_errors	ENST00000428461	ensembl	human	known	74_37	rna	37.50		SNP	0.000	A	18	30
XKR5	389610	genome.wustl.edu	37	8	6669733	6669733	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:6669733C>T	ENST00000518724.1	-	0	1198							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GATCTGTGGCCCGGGGAGAAT	0.547													ENSG00000186530																																					0													35.0	34.0	34.0					8																	6669733		1790	3898	5688			0			-	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669733C>T			Q5GH74	R	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			-	XKR5	-	-		0.547	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	0	0		79	79		0.00		C	NM_207411		6669733	-1	16		47		tier1	no_errors	ENST00000405979	ensembl	human	known	74_37	rna	25.00		SNP	0.000	T	16	47
NRG3	10718	genome.wustl.edu	37	10	83635333	83635333	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:83635333G>A	ENST00000404547.1	+	1	237	c.237G>A	c.(235-237)ctG>ctA	p.L79L	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Silent_p.L79L			P56975	NRG3_HUMAN	neuregulin 3	79					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCATCGGCCTGGGGCTCAGCC	0.632													ENSG00000185737																																					0													71.0	56.0	61.0					10																	83635333		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.237G>A	10.37:g.83635333G>A			A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	pfscan_EG-like_dom	p.L79	ENST00000404547.1	37	c.237	CCDS31233.1	10																																																																																			-	NRG3	-	NULL		0.632	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	0	0		8	8		0.00		G	XM_166086		83635333	+1	4		4		tier1	no_errors	ENST00000404547	ensembl	human	known	74_37	silent	50.00		SNP	1.000	A	4	4
DCST2	127579	genome.wustl.edu	37	1	155002676	155002676	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155002676T>C	ENST00000368424.3	-	7	1119	c.1061A>G	c.(1060-1062)tAt>tGt	p.Y354C	DCST2_ENST00000295536.5_Missense_Mutation_p.Y354C	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	354						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			GATATTGTCATAATGGTCCCA	0.587													ENSG00000163354																																					0													99.0	98.0	98.0					1																	155002676		2203	4300	6503	SO:0001583	missense	0			-	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1061A>G	1.37:g.155002676T>C	ENSP00000357409:p.Tyr354Cys		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.Y354C	ENST00000368424.3	37	c.1061	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471796	0.26423	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.38560	1.13;1.13	4.83	-0.959	0.10343	Dendritic cell-specific transmembrane protein-like (1);	0.446133	0.22489	N	0.059400	T	0.33323	0.0859	L	0.61218	1.895	0.09310	N	1	D	0.63880	0.993	P	0.54372	0.75	T	0.38908	-0.9639	10	0.87932	D	0	-8.4972	10.9592	0.47374	0.3534:0.0:0.0:0.6466	.	354	Q5T1A1	DCST2_HUMAN	C	354	ENSP00000357409:Y354C;ENSP00000295536:Y354C	ENSP00000295536:Y354C	Y	-	2	0	DCST2	153269300	0.177000	0.23109	0.000000	0.03702	0.154000	0.21943	1.381000	0.34362	-0.391000	0.07763	-0.327000	0.08410	TAT	-	DCST2	-	pfam_DC_STAMP-like		0.587	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	0	0		91	91		0.00		T	NM_144622		155002676	-1	47		92		tier1	no_errors	ENST00000368424	ensembl	human	known	74_37	missense	33.81		SNP	0.000	C	47	92
SEMA4B	10509	genome.wustl.edu	37	15	90767145	90767145	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:90767145C>T	ENST00000411539.2	+	9	1379	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	SEMA4B_ENST00000332496.6_Silent_p.L373L|SEMA4B_ENST00000379122.3_Silent_p.L368L	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	368	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCAGCGGCCTCTACAAGGAGG	0.587													ENSG00000185033																																					0													48.0	53.0	51.0					15																	90767145		1967	4136	6103	SO:0001819	synonymous_variant	0			-	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1119C>T	15.37:g.90767145C>T			Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L373	ENST00000411539.2	37	c.1119	CCDS45347.1	15																																																																																			-	SEMA4B	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.587	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	0	0		74	74		0.00		C	NM_198925		90767145	+1	41		29		tier1	no_errors	ENST00000332496	ensembl	human	known	74_37	silent	58.57		SNP	0.999	T	41	29
CAMKK1	84254	genome.wustl.edu	37	17	3785649	3785649	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3785649G>A	ENST00000348335.2	-	7	834				CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000158166.5_Missense_Mutation_p.A234V|CAMKK1_ENST00000381771.2_Missense_Mutation_p.A234V	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GATATTCTGGGCCTGGTTCTG	0.562													ENSG00000004660																																					0													96.0	93.0	94.0					17																	3785649		2203	4300	6503	SO:0001627	intron_variant	0			-	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.685+172C>T	17.37:g.3785649G>A			Q9BQH3	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.A234V	ENST00000348335.2	37	c.701	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	G	5.416	0.261888	0.10239	.	.	ENSG00000004660	ENST00000381771;ENST00000158166	T;T	0.74632	-0.86;-0.85	3.82	0.525	0.17072	.	.	.	.	.	T	0.54111	0.1838	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39375	-0.9617	9	0.02654	T	1	0.1625	4.4168	0.11461	0.1124:0.0:0.4635:0.4241	.	234	F8W9H1	.	V	234	ENSP00000371190:A234V;ENSP00000158166:A234V	ENSP00000158166:A234V	A	-	2	0	CAMKK1	3732398	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.451000	0.21779	0.165000	0.19558	0.655000	0.94253	GCC	-	CAMKK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.562	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	HGNC	protein_coding	OTTHUMT00000207456.1	0	0		53	53		0.00		G	NM_032294, NM_172206, NM_172207		3785649	-1	10		63		tier1	no_errors	ENST00000381771	ensembl	human	known	74_37	missense	13.70		SNP	0.000	A	10	63
GPR125	166647	genome.wustl.edu	37	4	22394264	22394264	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:22394264C>T	ENST00000334304.5	-	17	2800	c.2531G>A	c.(2530-2532)gGa>gAa	p.G844E	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	844					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCTGTCACTCCTACCCATAG	0.393													ENSG00000152990																																					0													205.0	184.0	191.0					4																	22394264		2203	4300	6503	SO:0001583	missense	0			-	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2531G>A	4.37:g.22394264C>T	ENSP00000334952:p.Gly844Glu		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G844E	ENST00000334304.5	37	c.2531	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802070	0.90538	.	.	ENSG00000152990	ENST00000334304	D	0.97731	-4.51	5.18	5.18	0.71444	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	D	0.99790	1.1031	10	0.72032	D	0.01	-22.4656	19.0429	0.93008	0.0:1.0:0.0:0.0	.	701;844	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	E	844	ENSP00000334952:G844E	ENSP00000334952:G844E	G	-	2	0	GPR125	22003362	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.563000	0.60823	2.584000	0.87258	0.561000	0.74099	GGA	-	GPR125	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.393	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	0	0		81	81		0.00		C			22394264	-1	26		89		tier1	no_errors	ENST00000334304	ensembl	human	known	74_37	missense	22.61		SNP	1.000	T	26	89
C1orf106	55765	genome.wustl.edu	37	1	200880854	200880854	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:200880854C>T	ENST00000367342.4	+	9	1688	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	C1orf106_ENST00000413687.2_Silent_p.V411V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	496										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGGCCTGGGTCCCAGCCGGCA	0.697													ENSG00000163362																																					0													31.0	35.0	34.0					1																	200880854		2202	4299	6501	SO:0001819	synonymous_variant	0			-	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1488C>T	1.37:g.200880854C>T			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	pfam_DUF3338	p.V496	ENST00000367342.4	37	c.1488		1																																																																																			-	C1orf106	-	NULL		0.697	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	0	0		43	43		0.00		C	NM_018265		200880854	+1	27		31		tier1	no_errors	ENST00000367342	ensembl	human	known	74_37	silent	46.55		SNP	0.077	T	27	31
CRACR2A	84766	genome.wustl.edu	37	12	3806137	3806137	+	Missense_Mutation	SNP	G	G	A	rs145705713		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:3806137G>A	ENST00000252322.1	-	4	497	c.29C>T	c.(28-30)tCc>tTc	p.S10F	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.S10F|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.S10F	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		10					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGGGGTCTGGAGACTACCCT	0.572													ENSG00000130038																																					0													24.0	22.0	23.0					12																	3806137		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000252322.1:c.29C>T	12.37:g.3806137G>A	ENSP00000252322:p.Ser10Phe		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.S10F	ENST00000252322.1	37	c.29	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369117	0.42003	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.62105	0.05;2.45;2.48	5.56	2.56	0.30785	.	0.590904	0.15673	N	0.250266	T	0.65831	0.2729	L	0.53249	1.67	0.09310	N	1	P;D;P	0.54207	0.94;0.965;0.94	P;P;P	0.54312	0.564;0.748;0.564	T	0.55302	-0.8162	10	0.52906	T	0.07	-5.4481	9.555	0.39332	0.0:0.2814:0.5744:0.1442	.	10;10;10	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	F	10	ENSP00000409382:S10F;ENSP00000412496:S10F;ENSP00000252322:S10F	ENSP00000252322:S10F	S	-	2	0	EFCAB4B	3676398	0.012000	0.17670	0.895000	0.35142	0.065000	0.16274	1.136000	0.31467	1.323000	0.45263	0.637000	0.83480	TCC	-	EFCAB4B	-	NULL		0.572	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	0	0		42	42		0.00		G			3806137	-1	5		32		tier1	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	13.51		SNP	0.006	A	5	32
SLC38A5	92745	genome.wustl.edu	37	X	48318260	48318260	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:48318260G>A	ENST00000376876.3	-	14	1914	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	SLC38A5_ENST00000317669.5_Silent_p.I357I|SLC38A5_ENST00000376875.1_Silent_p.I306I|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	357					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GGGCCCGGCGGATCTGTGGCC	0.587													ENSG00000017483																																					0													35.0	29.0	31.0					X																	48318260		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1071C>T	X.37:g.48318260G>A			B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	pfam_AA_transpt_TM	p.I357	ENST00000376876.3	37	c.1071	CCDS14293.1	X																																																																																			-	SLC38A5	-	pfam_AA_transpt_TM		0.587	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	0	0		21	21		0.00		G	NM_033518		48318260	-1	26		8		tier1	no_errors	ENST00000317669	ensembl	human	known	74_37	silent	76.47		SNP	0.985	A	26	8
TEAD4	7004	genome.wustl.edu	37	12	3147171	3147171	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:3147171C>T	ENST00000397122.2	+	9	833	c.548C>T	c.(547-549)tCc>tTc	p.S183F	TEAD4_ENST00000358409.2_Missense_Mutation_p.S269F|TEAD4_ENST00000359864.2_Missense_Mutation_p.S312F	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	312					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GAAGGCAGCTCCTTCTATGGG	0.567													ENSG00000197905																																					0													89.0	69.0	76.0					12																	3147171		2203	4300	6503	SO:0001583	missense	0			-	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.548C>T	12.37:g.3147171C>T	ENSP00000380311:p.Ser183Phe		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.S312F	ENST00000397122.2	37	c.935	CCDS41737.1	12	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965310	0.34659	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.33654	1.4;1.4;1.4	4.77	3.88	0.44766	.	0.149368	0.50627	D	0.000113	T	0.34106	0.0886	L	0.61036	1.89	0.40213	D	0.97765	B	0.09022	0.002	B	0.09377	0.004	T	0.24083	-1.0170	10	0.72032	D	0.01	-14.7797	8.5465	0.33424	0.0:0.8247:0.0:0.1753	.	312	Q15561	TEAD4_HUMAN	F	269;312;183	ENSP00000351184:S269F;ENSP00000352926:S312F;ENSP00000380311:S183F	ENSP00000351184:S269F	S	+	2	0	TEAD4	3017432	0.031000	0.19500	1.000000	0.80357	0.672000	0.39443	2.614000	0.46359	0.998000	0.38996	-0.136000	0.14681	TCC	-	TEAD4	-	pfam_TEA/ATTS,pirsf_TEF		0.567	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398477.1	0	0		42	42		0.00		C	NM_003213		3147171	+1	23		31		tier1	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	42.59		SNP	1.000	T	23	31
HEATR4	399671	genome.wustl.edu	37	14	73978825	73978825	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:73978825C>T	ENST00000553558.1	-	7	1764	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	HEATR4_ENST00000560393.1_Silent_p.E434E|HEATR4_ENST00000334988.2_Silent_p.E481E	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	481										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GAAGCAGGTTCTCTACTGTCT	0.527													ENSG00000187105																																					0													146.0	108.0	121.0					14																	73978825		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1443G>A	14.37:g.73978825C>T			B7Z7V9|E9KL41	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E481	ENST00000553558.1	37	c.1443	CCDS9815.2	14																																																																																			-	HEATR4	-	superfamily_ARM-type_fold		0.527	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	0	0		64	64		0.00		C	NM_203309		73978825	-1	39		27		tier1	no_errors	ENST00000334988	ensembl	human	known	74_37	silent	59.09		SNP	0.858	T	39	27
ADAD1	132612	genome.wustl.edu	37	4	123302156	123302156	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:123302156C>T	ENST00000296513.2	+	4	367	c.182C>T	c.(181-183)cCa>cTa	p.P61L	ADAD1_ENST00000388724.2_Missense_Mutation_p.P61L|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.P43L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	61					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTAATTTTCCAGAGCCGTTG	0.328													ENSG00000164113																																					0													57.0	60.0	59.0					4																	123302156		2201	4300	6501	SO:0001583	missense	0			-	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.182C>T	4.37:g.123302156C>T	ENSP00000296513:p.Pro61Leu		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin	p.P61L	ENST00000296513.2	37	c.182	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199687	0.38905	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.35973	1.3;1.31;1.28	5.23	5.23	0.72850	.	0.099764	0.44688	D	0.000425	T	0.41673	0.1169	L	0.29908	0.895	0.51482	D	0.99992	P;P	0.49783	0.928;0.881	P;P	0.52481	0.7;0.504	T	0.29882	-0.9997	10	0.54805	T	0.06	-16.2583	17.5703	0.87933	0.0:1.0:0.0:0.0	.	61;61	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	61;61;61;61;43	ENSP00000296513:P61L;ENSP00000373376:P61L;ENSP00000373377:P43L	ENSP00000296513:P61L	P	+	2	0	ADAD1	123521606	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	2.641000	0.46587	2.423000	0.82170	0.563000	0.77884	CCA	-	ADAD1	-	NULL		0.328	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	0	0		69	69		0.00		C	NM_139243		123302156	+1	47		79		tier1	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	37.30		SNP	1.000	T	47	79
LHFPL5	222662	genome.wustl.edu	37	6	35773750	35773750	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35773750G>A	ENST00000373853.1	+	1	681	c.303G>A	c.(301-303)gtG>gtA	p.V101V	LHFPL5_ENST00000360215.1_Silent_p.V101V			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	101					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGTTCTTTGTGGCCTTGGGCA	0.547													ENSG00000197753																																					0													171.0	169.0	169.0					6																	35773750		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.303G>A	6.37:g.35773750G>A			B3KX66	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.V101	ENST00000373853.1	37	c.303	CCDS4812.1	6																																																																																			-	LHFPL5	-	pfam_Lipome_HGMIC_fus_partner-like		0.547	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding	OTTHUMT00000040323.1	0	0		26	26		0.00		G	NM_182548		35773750	+1	14		19		tier1	no_errors	ENST00000360215	ensembl	human	known	74_37	silent	42.42		SNP	1.000	A	14	19
EIF4A1	1973	genome.wustl.edu	37	17	7482018	7482018	+	3'UTR	SNP	C	C	A	rs575255819		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7482018C>A	ENST00000293831.8	+	0	1451				SNORD10_ENST00000459579.1_RNA|SNORA67_ENST00000384423.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000582746.1_3'UTR|CD68_ENST00000380498.6_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GCTCTTCTCCCAAAAAAAAAA	0.443													ENSG00000265500																									Melanoma(120;278 1668 15796 27423 46368)												0																																										SO:0001624	3_prime_UTR_variant	0			-	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.*214C>A	17.37:g.7482018C>A			B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	R	SNP	-	NULL	ENST00000293831.8	37	NULL	CCDS11113.1	17																																																																																			-	SENP3-EIF4A1	-	-		0.443	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP3-EIF4A1	HGNC	protein_coding	OTTHUMT00000226952.6	0	0		69	69		0.00		C	NM_001416		7482018	+1	8		84		tier1	no_errors	ENST00000579777	ensembl	human	known	74_37	rna	8.70		SNP	0.076	A	8	84
PRR27	401137	genome.wustl.edu	37	4	71020143	71020143	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71020143G>A	ENST00000344526.5	+	1	240	c.51G>A	c.(49-51)aaG>aaA	p.K17K	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Splice_Site_p.K17K	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		17						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTGCAAGGAAGGTAAGTAAAT	0.299													ENSG00000187533																																					0													92.0	89.0	90.0					4																	71020143		2203	4300	6503	SO:0001630	splice_region_variant	0			-																												ENST00000344526.5:c.51+1G>A	4.37:g.71020143G>A			A8MXP0|Q6MZR6	Silent	SNP	NULL	p.K17	ENST00000344526.5	37	c.51	CCDS3535.1	4																																																																																			-	C4orf40	-	NULL		0.299	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf40	HGNC	protein_coding	OTTHUMT00000251558.1	0	0		108	108		0.00		G		Silent	71020143	+1	19		84		tier1	no_errors	ENST00000344526	ensembl	human	known	74_37	silent	18.45		SNP	0.042	A	19	84
PTPRQ	374462	genome.wustl.edu	37	12	80935406	80935406	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:80935406C>T	ENST00000266688.5	+	26	3215	c.3215C>T	c.(3214-3216)cCa>cTa	p.P1072L				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1118	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						AGCTGGGTCCCACCGGCTCAA	0.438													ENSG00000139304																																					0													117.0	99.0	104.0					12																	80935406		692	1591	2283	SO:0001583	missense	0			-	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.3215C>T	12.37:g.80935406C>T	ENSP00000266688:p.Pro1072Leu			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,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.P1072L	ENST00000266688.5	37	c.3215		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.46|15.46	2.840421|2.840421	0.51057|0.51057	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000532722|ENST00000266688	.|T	.|0.58506	.|0.33	5.89|5.89	5.0|5.0	0.66597|0.66597	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.76328|0.76328	0.3972|0.3972	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.79829|0.79829	-0.1638|-0.1638	4|8	.|0.72032	.|D	.|0.01	.|.	13.4494|13.4494	0.61161|0.61161	0.0:0.9272:0.0:0.0728|0.0:0.9272:0.0:0.0728	.|.	.|1118	.|Q9UMZ3	.|PTPRQ_HUMAN	Y|L	773|1072	.|ENSP00000266688:P1072L	.|ENSP00000266688:P1072L	H|P	+|+	1|2	0|0	PTPRQ|PTPRQ	79459537|79459537	1.000000|1.000000	0.71417|0.71417	0.797000|0.797000	0.32132|0.32132	0.886000|0.886000	0.51366|0.51366	3.707000|3.707000	0.54838|0.54838	1.491000|1.491000	0.48482|0.48482	0.655000|0.655000	0.94253|0.94253	CAC|CCA	-	PTPRQ	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		0	0		69	69		0.00		C	NM_001145026		80935406	+1	17		74		tier1	no_errors	ENST00000266688	ensembl	human	known	74_37	missense	18.68		SNP	0.995	T	17	74
GPR128	84873	genome.wustl.edu	37	3	100373989	100373989	+	Missense_Mutation	SNP	C	C	T	rs373804273		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:100373989C>T	ENST00000273352.3	+	12	1958	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.R269W	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	564					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R564W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GCCTCTTCCTCGGCATTTCAT	0.398													ENSG00000144820																									Pancreas(87;185 1975 7223 18722)												1	Substitution - Missense(1)	lung(1)											101.0	97.0	98.0					3																	100373989		2203	4300	6503	SO:0001583	missense	0			-	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1690C>T	3.37:g.100373989C>T	ENSP00000273352:p.Arg564Trp		Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R564W	ENST00000273352.3	37	c.1690	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014624	0.54468	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.39229	1.09;1.09	5.81	3.03	0.35002	GPCR, family 2-like (1);	1.707210	0.02978	N	0.145287	T	0.61110	0.2321	M	0.85373	2.75	0.09310	N	1	P;D	0.71674	0.661;0.998	B;P	0.56612	0.227;0.802	T	0.18335	-1.0340	10	0.72032	D	0.01	.	2.3777	0.04346	0.1571:0.5282:0.1517:0.163	.	269;564	E9PHI0;Q96K78	.;GP128_HUMAN	W	564;269	ENSP00000273352:R564W;ENSP00000419788:R269W	ENSP00000273352:R564W	R	+	1	2	GPR128	101856679	0.685000	0.27652	0.159000	0.22649	0.801000	0.45260	1.230000	0.32612	0.773000	0.33404	0.655000	0.94253	CGG	-	GPR128	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.398	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	0	0		30	30		0.00		C			100373989	+1	12		16		tier1	no_errors	ENST00000273352	ensembl	human	known	74_37	missense	42.86		SNP	0.045	T	12	16
PLA2G4A	5321	genome.wustl.edu	37	1	186862187	186862187	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:186862187C>T	ENST00000367466.3	+	4	312	c.160C>T	c.(160-162)Cct>Tct	p.P54S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P54S|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	54	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	CTCTACAACCCCTGACAGCAG	0.358													ENSG00000116711																																					0													153.0	152.0	152.0					1																	186862187		2203	4300	6503	SO:0001583	missense	0			-	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.160C>T	1.37:g.186862187C>T	ENSP00000356436:p.Pro54Ser		B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.P54S	ENST00000367466.3	37	c.160	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189737	0.78789	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.63096	-0.02;-0.02	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68036	-0.5515	10	0.30078	T	0.28	-14.6312	18.7927	0.91980	0.0:1.0:0.0:0.0	.	54;54	E7EU42;P47712	.;PA24A_HUMAN	S	54	ENSP00000356436:P54S;ENSP00000406892:P54S	ENSP00000356436:P54S	P	+	1	0	PLA2G4A	185128810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.187000	0.77730	2.676000	0.91093	0.655000	0.94253	CCT	-	PLA2G4A	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	0	0		95	95		0.00		C	NM_024420		186862187	+1	19		91		tier1	no_errors	ENST00000367466	ensembl	human	known	74_37	missense	17.27		SNP	1.000	T	19	91
CFAP54	144535	genome.wustl.edu	37	12	97222840	97222840	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:97222840G>A	ENST00000524981.4	+	66	9168	c.9145G>A	c.(9145-9147)Gat>Aat	p.D3049N				Q96N23	CL055_HUMAN		0																	GTTTTTGAATGATAAAGAGCC	0.294													ENSG00000188596																																					0																																										SO:0001583	missense	0			-																												ENST00000524981.4:c.9145G>A	12.37:g.97222840G>A	ENSP00000431759:p.Asp3049Asn			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.D3049N	ENST00000524981.4	37	c.9145		12	.	.	.	.	.	.	.	.	.	.	G	0.445	-0.896767	0.02472	.	.	ENSG00000188596	ENST00000524981	.	.	.	5.18	3.28	0.37604	.	.	.	.	.	T	0.40448	0.1117	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25398	-1.0133	5	0.41790	T	0.15	.	8.882	0.35380	0.1872:0.0:0.8128:0.0	.	.	.	.	N	3049	.	ENSP00000431759:D3049N	D	+	1	0	C12orf63	95746971	0.036000	0.19791	0.019000	0.16419	0.043000	0.13939	1.350000	0.34010	1.299000	0.44798	0.561000	0.74099	GAT	-	C12orf55	-	NULL		0.294	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	0	0		31	31		0.00		G			97222840	+1	9		42		tier1	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	17.65		SNP	0.005	A	9	42
CNKSR2	22866	genome.wustl.edu	37	X	21549994	21549994	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:21549994C>T	ENST00000379510.3	+	11	1148	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L	CNKSR2_ENST00000425654.2_Missense_Mutation_p.P371L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P371L|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P322L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	371	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGAAACCTTCCTTGTGAAGAC	0.388													ENSG00000149970																																					0													73.0	71.0	72.0					X																	21549994		2202	4298	6500	SO:0001583	missense	0			-	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1112C>T	X.37:g.21549994C>T	ENSP00000368824:p.Pro371Leu		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P371L	ENST00000379510.3	37	c.1112	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	c	14.01	2.407332	0.42715	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.16324	2.62;2.36;2.35;2.6	5.54	5.54	0.83059	Connector enhancer of kinase suppressor of ras 2 (1);	0.054038	0.85682	D	0.000000	T	0.13500	0.0327	N	0.19112	0.55	0.51012	D	0.999903	B;B;B	0.32365	0.367;0.036;0.027	B;B;B	0.33568	0.166;0.018;0.017	T	0.13818	-1.0495	10	0.16420	T	0.52	-10.6662	18.4882	0.90836	0.0:1.0:0.0:0.0	.	371;322;371	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	L	371;322;371;371	ENSP00000397906:P371L;ENSP00000444633:P322L;ENSP00000279451:P371L;ENSP00000368824:P371L	ENSP00000279451:P371L	P	+	2	0	CNKSR2	21459915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.917000	0.75782	2.307000	0.77673	0.534000	0.68092	CCT	-	CNKSR2	-	pfam_CNKSR2		0.388	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	0	0		61	61		0.00		C	NM_014927		21549994	+1	26		35		tier1	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	42.62		SNP	1.000	T	26	35
CLCA1	1179	genome.wustl.edu	37	1	86952285	86952285	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:86952285T>C	ENST00000234701.3	+	8	1382	c.1031T>C	c.(1030-1032)gTt>gCt	p.V344A	CLCA1_ENST00000394711.1_Missense_Mutation_p.V344A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	344	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGGTCCTGGGTTGGGATGGTG	0.478													ENSG00000016490																																					0													135.0	125.0	128.0					1																	86952285		2203	4300	6503	SO:0001583	missense	0			-		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1031T>C	1.37:g.86952285T>C	ENSP00000234701:p.Val344Ala		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.V344A	ENST00000234701.3	37	c.1031	CCDS709.1	1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910998	0.52439	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.17528	2.27;2.27	5.5	3.15	0.36227	von Willebrand factor, type A (3);	0.071742	0.53938	N	0.000046	T	0.13243	0.0321	M	0.71036	2.16	0.30794	N	0.740638	B;B	0.29481	0.245;0.102	B;B	0.41619	0.361;0.361	T	0.06716	-1.0811	10	0.56958	D	0.05	-18.8142	8.936	0.35700	0.0:0.2185:0.0:0.7815	.	344;107	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	A	344;344;57	ENSP00000234701:V344A;ENSP00000378200:V344A	ENSP00000234701:V344A	V	+	2	0	CLCA1	86724873	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	1.496000	0.35638	0.925000	0.37094	0.533000	0.62120	GTT	-	CLCA1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot		0.478	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	HGNC	protein_coding	OTTHUMT00000028277.1	0	0		40	40		0.00		T	NM_001285		86952285	+1	25		48		tier1	no_errors	ENST00000234701	ensembl	human	known	74_37	missense	34.25		SNP	1.000	C	25	48
MDGA2	161357	genome.wustl.edu	37	14	47324287	47324287	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:47324287C>T	ENST00000399232.2	-	15	2980	c.2616G>A	c.(2614-2616)ggG>ggA	p.G872G	MDGA2_ENST00000357362.3_Silent_p.G643G|MDGA2_ENST00000439988.3_Silent_p.G941G|MDGA2_ENST00000399222.3_Silent_p.G74G|MDGA2_ENST00000426342.1_Silent_p.G643G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	872	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTCCTTTATTCCCACTTGAAG	0.313													ENSG00000272781																																					0													137.0	127.0	130.0					14																	47324287		1826	4075	5901	SO:0001819	synonymous_variant	0			-	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2616G>A	14.37:g.47324287C>T			F6W3S7|J3KPX6	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.G941	ENST00000399232.2	37	c.2823		14																																																																																			-	MDGA2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	0	0		93	93		0.00		C	NM_182830		47324287	-1	31		25		tier1	no_errors	ENST00000439988	ensembl	human	known	74_37	silent	55.36		SNP	1.000	T	31	25
DUSP7	1849	genome.wustl.edu	37	3	52088018	52088018	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52088018G>A	ENST00000495880.1	-	2	1073	c.890C>T	c.(889-891)cCc>cTc	p.P297L	DUSP7_ENST00000296483.6_Missense_Mutation_p.P246L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	297					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCAGAGATGGGGATCTGCTT	0.572													ENSG00000164086																																					0													215.0	196.0	202.0					3																	52088018		2203	4300	6503	SO:0001583	missense	0			-	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.890C>T	3.37:g.52088018G>A	ENSP00000417183:p.Pro297Leu		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P246L	ENST00000495880.1	37	c.737	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	G	35	5.438070	0.96168	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.88664	-2.41;-2.41;-2.41	5.71	5.71	0.89125	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95454	0.8537	10	0.87932	D	0	.	19.4463	0.94849	0.0:0.0:1.0:0.0	.	246;297	Q16829-2;Q16829	.;DUS7_HUMAN	L	297;246;230	ENSP00000417183:P297L;ENSP00000296483:P246L;ENSP00000418566:P230L	ENSP00000296483:P246L	P	-	2	0	DUSP7	52063058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.785000	0.99042	2.688000	0.91661	0.549000	0.68633	CCC	-	DUSP7	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Dual-sp_phosphatase_subgr_cat		0.572	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1	0	0		47	47		0.00		G	NM_001947		52088018	-1	14		61		tier1	no_errors	ENST00000296483	ensembl	human	known	74_37	missense	18.67		SNP	1.000	A	14	61
ADCY3	109	genome.wustl.edu	37	2	25095477	25095477	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:25095477C>T	ENST00000260600.5	-	2	1638	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	263					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ATCTTCACCTCCAGCGACTGG	0.632													ENSG00000138031																																					0													97.0	100.0	99.0					2																	25095477		2203	4300	6503	SO:0001583	missense	0			-	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.787G>A	2.37:g.25095477C>T	ENSP00000260600:p.Glu263Lys		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E263K	ENST00000260600.5	37	c.787	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.169358	0.94768	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000427849;ENST00000433852	T;T;T	0.81415	-1.49;-1.49;-1.41	5.24	5.24	0.73138	.	0.052402	0.85682	D	0.000000	D	0.86535	0.5956	M	0.75615	2.305	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.53912	0.737;0.737	D	0.86832	0.2011	10	0.45353	T	0.12	.	17.3652	0.87362	0.0:1.0:0.0:0.0	.	263;263	B7ZLX9;O60266	.;ADCY3_HUMAN	K	263;238;29;41	ENSP00000260600:E263K;ENSP00000399275:E29K;ENSP00000401455:E41K	ENSP00000260600:E263K	E	-	1	0	ADCY3	24948981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.483000	0.66838	2.430000	0.82344	0.591000	0.81541	GAG	-	ADCY3	-	NULL		0.632	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	0	0		48	48		0.00		C			25095477	-1	28		69		tier1	no_errors	ENST00000260600	ensembl	human	known	74_37	missense	28.87		SNP	1.000	T	28	69
COL9A1	1297	genome.wustl.edu	37	6	70935701	70935701	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:70935701C>T	ENST00000357250.6	-	37	2673	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.E596K|COL9A1_ENST00000320755.7_Missense_Mutation_p.E596K	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	839	Collagen-like 9.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCCCCTTTTCTCCCAAGTCA	0.423													ENSG00000112280																																					0													68.0	65.0	66.0					6																	70935701		2203	4300	6503	SO:0001583	missense	0			-		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2515G>A	6.37:g.70935701C>T	ENSP00000349790:p.Glu839Lys		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E839K	ENST00000357250.6	37	c.2515	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258845	0.80246	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.96587	-4.06;-4.06;-4.06	5.43	5.43	0.79202	.	0.134805	0.64402	D	0.000002	D	0.96873	0.8979	M	0.73372	2.23	0.80722	D	1	D;P;P	0.55800	0.973;0.948;0.674	P;P;B	0.58928	0.848;0.648;0.386	D	0.95330	0.8429	10	0.23891	T	0.37	.	19.2294	0.93831	0.0:1.0:0.0:0.0	.	839;596;388	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	K	839;596;596	ENSP00000349790:E839K;ENSP00000315252:E596K;ENSP00000359530:E596K	ENSP00000315252:E596K	E	-	1	0	COL9A1	70992422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.313000	0.78978	2.557000	0.86248	0.591000	0.81541	GAA	-	COL9A1	-	pfam_Collagen		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	0	0		67	67		0.00		C			70935701	-1	15		46		tier1	no_errors	ENST00000357250	ensembl	human	known	74_37	missense	24.19		SNP	1.000	T	15	46
BRAF	673	genome.wustl.edu	37	7	140494226	140494226	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:140494226G>A	ENST00000288602.6	-	8	1082	c.1022C>T	c.(1021-1023)cCa>cTa	p.P341L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	341					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CTGTGGAATTGGAATGGATTT	0.413		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				ENSG00000157764																									Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													161.0	155.0	157.0					7																	140494226		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	-	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1022C>T	7.37:g.140494226G>A	ENSP00000288602:p.Pro341Leu		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.P341L	ENST00000288602.6	37	c.1022	CCDS5863.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.447167	0.96205	.	.	ENSG00000157764	ENST00000288602	T	0.79554	-1.28	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	L	0.44542	1.39	0.80722	D	1	P	0.39216	0.664	B	0.31686	0.134	T	0.76911	-0.2784	10	0.54805	T	0.06	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	341	P15056	BRAF_HUMAN	L	341	ENSP00000288602:P341L	ENSP00000288602:P341L	P	-	2	0	BRAF	140140695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.511000	0.81718	2.753000	0.94483	0.655000	0.94253	CCA	-	BRAF	-	NULL		0.413	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	0	0		114	114		0.00		G	NM_004333		140494226	-1	23		145		tier1	no_errors	ENST00000288602	ensembl	human	known	74_37	missense	13.69		SNP	1.000	A	23	145
WDR49	151790	genome.wustl.edu	37	3	167277889	167277889	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:167277889G>A	ENST00000308378.3	-	5	919	c.614C>T	c.(613-615)aCt>aTt	p.T205I	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.T30I|WDR49_ENST00000453925.2_Missense_Mutation_p.T258I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	205										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAAAAGCCGAGTCTCATTTGC	0.453													ENSG00000174776																																					0													187.0	171.0	177.0					3																	167277889		2203	4300	6503	SO:0001583	missense	0			-	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.614C>T	3.37:g.167277889G>A	ENSP00000311343:p.Thr205Ile		Q8N297	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.T205I	ENST00000308378.3	37	c.614	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.846|6.846	0.525389|0.525389	0.13066|0.13066	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000476376;ENST00000453925;ENST00000466760	.|T;T;T;T	.|0.60797	.|0.16;0.16;0.16;0.16	4.94|4.94	1.87|1.87	0.25490|0.25490	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.175238	.|0.51477	.|D	.|0.000095	T|T	0.42245|0.42245	0.1194|0.1194	L|L	0.33245|0.33245	0.995|0.995	0.28119|0.28119	N|N	0.930671|0.930671	.|P;P	.|0.43024	.|0.798;0.634	.|B;B	.|0.42030	.|0.373;0.31	T|T	0.29119|0.29119	-1.0022|-1.0022	5|10	.|0.39692	.|T	.|0.17	.|.	6.0852|6.0852	0.19962|0.19962	0.079:0.1333:0.6504:0.1373|0.079:0.1333:0.6504:0.1373	.|.	.|258;205	.|E7EQK3;Q8IV35	.|.;WDR49_HUMAN	F|I	270|205;30;258;98	.|ENSP00000311343:T205I;ENSP00000420508:T30I;ENSP00000410863:T258I;ENSP00000418718:T98I	.|ENSP00000311343:T205I	L|T	-|-	1|2	0|0	WDR49|WDR49	168760583|168760583	0.999000|0.999000	0.42202|0.42202	0.777000|0.777000	0.31699|0.31699	0.507000|0.507000	0.33981|0.33981	2.978000|2.978000	0.49305|0.49305	0.569000|0.569000	0.29329|0.29329	-0.229000|-0.229000	0.12294|0.12294	CTC|ACT	-	WDR49	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.453	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	0	0		75	75		0.00		G	NM_178824		167277889	-1	34		67		tier1	no_errors	ENST00000308378	ensembl	human	known	74_37	missense	33.66		SNP	0.717	A	34	67
ABCC4	10257	genome.wustl.edu	37	13	95727862	95727862	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:95727862G>A	ENST00000376887.4	-	22	2801				ABCC4_ENST00000474158.1_5'Flank|ABCC4_ENST00000412704.1_Intron	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4						blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AAAACCTGCGGCCTCCCAAGC	0.517													ENSG00000125257																																					0																																										SO:0001627	intron_variant	0			-	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2687-57C>T	13.37:g.95727862G>A			A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	R	SNP	-	NULL	ENST00000376887.4	37	NULL	CCDS9474.1	13																																																																																			-	ABCC4	-	-		0.517	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	0	0		29	29		0.00		G	NM_005845		95727862	-1	7		24		tier1	no_errors	ENST00000467685	ensembl	human	known	74_37	rna	22.58		SNP	0.000	A	7	24
OR10J3	441911	genome.wustl.edu	37	1	159284008	159284008	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:159284008C>T	ENST00000332217.5	-	1	441	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	148						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)					CCCAGTGATCCAGAGGCCAGT	0.517													ENSG00000196266																																					0													71.0	65.0	67.0					1																	159284008		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.442G>A	1.37:g.159284008C>T	ENSP00000331789:p.Gly148Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G148R	ENST00000332217.5	37	c.442	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120565	0.37436	.	.	ENSG00000196266	ENST00000332217	T	0.39592	1.07	5.03	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55986	0.1955	M	0.86420	2.815	0.09310	N	0.999997	D	0.71674	0.998	D	0.80764	0.994	T	0.52697	-0.8541	9	0.66056	D	0.02	.	10.9669	0.47418	0.0:0.9096:0.0:0.0904	.	148	Q5JRS4	O10J3_HUMAN	R	148	ENSP00000331789:G148R	ENSP00000331789:G148R	G	-	1	0	OR10J3	157550632	0.000000	0.05858	0.004000	0.12327	0.096000	0.18686	1.401000	0.34589	1.319000	0.45190	0.561000	0.74099	GGA	-	OR10J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	0	0		32	32		0.00		C			159284008	-1	13		34		tier1	no_errors	ENST00000332217	ensembl	human	known	74_37	missense	27.66		SNP	0.123	T	13	34
OBSCN	84033	genome.wustl.edu	37	1	228404937	228404937	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228404937C>T	ENST00000422127.1	+	8	2645	c.2601C>T	c.(2599-2601)acC>acT	p.T867T	OBSCN_ENST00000570156.2_Silent_p.T867T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T867T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	867	Ig-like 8.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGAAGGCACCTACTCCTGCC	0.672													ENSG00000154358																																					0													43.0	49.0	47.0					1																	228404937		2182	4261	6443	SO:0001819	synonymous_variant	0			-	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2601C>T	1.37:g.228404937C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T867	ENST00000422127.1	37	c.2601	CCDS58065.1	1																																																																																			-	OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		0	0		41	41		0.00		C	NM_052843		228404937	+1	30		42		tier1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	41.67		SNP	0.906	T	30	42
ABHD17A	81926	genome.wustl.edu	37	19	1881390	1881390	+	Missense_Mutation	SNP	G	G	T	rs564241676		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1881390G>T	ENST00000292577.7	-	2	609	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	ABHD17A_ENST00000250974.9_Missense_Mutation_p.S59Y|ABHD17A_ENST00000590661.1_Missense_Mutation_p.S59Y	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	59						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TGCGCCCGAGGAGGCTCTCAG	0.726													ENSG00000129968																																					0													7.0	9.0	9.0					19																	1881390		1879	3956	5835	SO:0001583	missense	0			-	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.176C>A	19.37:g.1881390G>T	ENSP00000292577:p.Ser59Tyr		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	pfam_Dienelactn_hydro	p.S59Y	ENST00000292577.7	37	c.176	CCDS45902.1	19	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296441	0.23650	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.32988	1.43;1.45	3.69	2.65	0.31530	.	0.808617	0.11070	N	0.603057	T	0.17408	0.0418	N	0.14661	0.345	0.34123	D	0.664365	B;P;P;P	0.44380	0.24;0.834;0.526;0.526	B;B;B;B	0.43889	0.109;0.435;0.218;0.319	T	0.10706	-1.0618	10	0.08837	T	0.75	-37.3077	7.0268	0.24944	0.1275:0.0:0.8725:0.0	.	59;59;59;59	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	Y	59	ENSP00000250974:S59Y;ENSP00000292577:S59Y	ENSP00000250974:S59Y	S	-	2	0	FAM108A1	1832390	.	.	0.215000	0.23724	0.093000	0.18481	.	.	0.905000	0.36596	0.561000	0.74099	TCC	-	ABHD17A	-	NULL		0.726	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2	0	0		30	30		0.00		G	NM_031213		1881390	-1	32		28		tier1	no_errors	ENST00000250974	ensembl	human	known	74_37	missense	53.33		SNP	0.817	T	32	28
TRA2A	29896	genome.wustl.edu	37	7	23556110	23556110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:23556110G>A	ENST00000297071.4	-	3	424	c.208C>T	c.(208-210)Cga>Tga	p.R70*	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	70	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GATCTGGATCGAGTGTAACGT	0.448													ENSG00000164548																									Pancreas(121;2137 2973 46590)												0													149.0	128.0	135.0					7																	23556110		2203	4300	6503	SO:0001587	stop_gained	0			-	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.208C>T	7.37:g.23556110G>A	ENSP00000297071:p.Arg70*		B4DUA9	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R70*	ENST00000297071.4	37	c.208	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.953255	0.97139	.	.	ENSG00000164548	ENST00000297071	.	.	.	5.88	5.88	0.94601	.	0.127829	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3313	20.2954	0.98549	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000297071:R70X	R	-	1	2	TRA2A	23522635	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.975000	0.70475	2.805000	0.96524	0.460000	0.39030	CGA	-	TRA2A	-	NULL		0.448	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	0	0		84	84		0.00		G	NM_013293		23556110	-1	41		63		tier1	no_errors	ENST00000297071	ensembl	human	known	74_37	nonsense	39.42		SNP	1.000	A	41	63
KCND2	3751	genome.wustl.edu	37	7	119915568	119915568	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:119915568C>T	ENST00000331113.4	+	1	1847	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	294					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.V294V(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CACTCCGAGTCTTCCGGGTCT	0.527													ENSG00000184408																																					1	Substitution - coding silent(1)	ovary(1)											104.0	89.0	94.0					7																	119915568		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.882C>T	7.37:g.119915568C>T			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.V294	ENST00000331113.4	37	c.882	CCDS5776.1	7																																																																																			-	KCND2	-	pfam_Ion_trans_dom,prints_K_chnl		0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	0	0		37	37		0.00		C	NM_012281		119915568	+1	19		23		tier1	no_errors	ENST00000331113	ensembl	human	known	74_37	silent	45.24		SNP	1.000	T	19	23
CHD6	84181	genome.wustl.edu	37	20	40050119	40050119	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:40050119G>A	ENST00000373233.3	-	31	5333	c.5156C>T	c.(5155-5157)tCt>tTt	p.S1719F		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1719					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCCTGAAAAGAGCTTGGTTC	0.453													ENSG00000124177																																					0													95.0	89.0	91.0					20																	40050119		2203	4300	6503	SO:0001583	missense	0			-	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5156C>T	20.37:g.40050119G>A	ENSP00000362330:p.Ser1719Phe		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1719F	ENST00000373233.3	37	c.5156	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665887	0.47677	.	.	ENSG00000124177	ENST00000373233	D	0.86627	-2.15	6.03	6.03	0.97812	.	0.102095	0.44483	D	0.000448	D	0.85353	0.5677	L	0.27053	0.805	0.80722	D	1	P	0.48503	0.911	P	0.46585	0.521	D	0.86538	0.1826	10	0.72032	D	0.01	-1.7421	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1719	Q8TD26	CHD6_HUMAN	F	1719	ENSP00000362330:S1719F	ENSP00000362330:S1719F	S	-	2	0	CHD6	39483533	1.000000	0.71417	0.993000	0.49108	0.096000	0.18686	4.669000	0.61575	2.861000	0.98227	0.655000	0.94253	TCT	-	CHD6	-	NULL		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	0	0		43	43		0.00		G			40050119	-1	32		43		tier1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	42.11		SNP	1.000	A	32	43
RORC	6097	genome.wustl.edu	37	1	151779524	151779524	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:151779524G>A	ENST00000318247.6	-	0	2088				RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_3'UTR|RORC_ENST00000392697.3_3'UTR|LINGO4_ENST00000368820.3_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C						adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCCCAAAGGGAAATGCAA	0.463													ENSG00000143365																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.*424C>T	1.37:g.151779524G>A			Q5SZR9|Q8N5V7|Q8NCY8	R	SNP	-	NULL	ENST00000318247.6	37	NULL	CCDS1004.1	1																																																																																			-	RORC	-	-		0.463	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	0	0		36	36		0.00		G			151779524	-1	5		41		tier1	no_errors	ENST00000480719	ensembl	human	known	74_37	rna	10.87		SNP	0.794	A	5	41
ZNF529	57711	genome.wustl.edu	37	19	37039185	37039185	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:37039185C>T	ENST00000591340.1	-	5	433	c.275G>A	c.(274-276)gGa>gAa	p.G92E	ZNF529_ENST00000334116.7_5'UTR	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	92	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)			breast(1)	1	Esophageal squamous(110;0.198)					AATATCTTTTCCTACAGATAA	0.343													ENSG00000186020																																					0													52.0	42.0	45.0					19																	37039185		1824	4071	5895	SO:0001583	missense	0			-	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.275G>A	19.37:g.37039185C>T	ENSP00000465578:p.Gly92Glu		K7EKE1|Q9H731|Q9HCF7	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.G92E	ENST00000591340.1	37	c.275	CCDS54256.1	19	.	.	.	.	.	.	.	.	.	.	C	0.362	-0.938874	0.02340	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.98	-4.2	0.03823	.	.	.	.	.	T	0.12902	0.0313	N	0.10782	0.045	0.09310	N	1	.	.	.	.	.	.	T	0.35549	-0.9784	6	0.02654	T	1	.	6.2563	0.20876	0.0:0.2114:0.1486:0.64	.	.	.	.	E	92	.	ENSP00000334695:G92E	G	-	2	0	ZNF529	41731025	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.389000	0.07342	-0.708000	0.05015	0.591000	0.81541	GGA	-	ZNF529	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.343	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF529	HGNC	protein_coding	OTTHUMT00000452730.1	0	0		55	55		0.00		C	NM_020951		37039185	-1	20		25		tier1	no_errors	ENST00000591340	ensembl	human	known	74_37	missense	43.48		SNP	0.000	T	20	25
CTNS	1497	genome.wustl.edu	37	17	3552211	3552211	+	Missense_Mutation	SNP	G	G	A	rs113994204		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3552211G>A	ENST00000046640.3	+	5	804	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CTNS_ENST00000381870.3_Missense_Mutation_p.E71K|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000441220.2_Intron|CTNS_ENST00000399306.2_Missense_Mutation_p.E71K	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	71			Missing (in CTNSJAN). {ECO:0000269|PubMed:9792862}.		adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TACTATCCTTGAGCTCCCCGA	0.418													ENSG00000040531																																					0													133.0	114.0	121.0					17																	3552211		2203	4300	6503	SO:0001583	missense	0			-	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.211G>A	17.37:g.3552211G>A	ENSP00000046640:p.Glu71Lys		D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	smart_CTNS,tigrfam_LC_transporter	p.E71K	ENST00000046640.3	37	c.211	CCDS11031.1	17	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081433	0.55753	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000452111;ENST00000399306	D;D;T;T	0.95482	-3.7;-3.72;0.86;0.86	5.06	0.657	0.17850	.	0.871146	0.10398	N	0.679597	D	0.90957	0.7157	L	0.50333	1.59	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.001;0.004	T	0.78768	-0.2075	10	0.08381	T	0.77	-0.5161	7.6499	0.28342	0.1484:0.4115:0.4401:0.0	.	71;71	O60931;O60931-2	CTNS_HUMAN;.	K	71	ENSP00000046640:E71K;ENSP00000371294:E71K;ENSP00000408652:E71K;ENSP00000382245:E71K	ENSP00000046640:E71K	E	+	1	0	CTNS	3498960	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	1.042000	0.30303	0.077000	0.16863	0.655000	0.94253	GAG	-	CTNS	-	NULL		0.418	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	0	0		45	45		0.00		G	NM_004937		3552211	+1	22		40		tier1	no_errors	ENST00000381870	ensembl	human	known	74_37	missense	35.48		SNP	0.997	A	22	40
BCS1L	617	genome.wustl.edu	37	2	219526216	219526216	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219526216C>T	ENST00000431802.1	+	3	1107	c.408C>T	c.(406-408)acC>acT	p.T136T	BCS1L_ENST00000392110.2_Silent_p.T136T|BCS1L_ENST00000392111.2_Silent_p.T136T|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Silent_p.T136T|BCS1L_ENST00000392109.1_Silent_p.T136T|BCS1L_ENST00000359273.3_Silent_p.T136T|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000439945.1_Silent_p.T136T			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	136					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTGTCACCTTCACGGCCC	0.537													ENSG00000074582																																					0													87.0	96.0	93.0					2																	219526216		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.408C>T	2.37:g.219526216C>T			B3KTW9|Q7Z2V7	Silent	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T136	ENST00000431802.1	37	c.408	CCDS2419.1	2																																																																																			-	BCS1L	-	pfam_BCS1_N		0.537	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	0	0		41	41		0.00		C	NM_004328		219526216	+1	20		54		tier1	no_errors	ENST00000359273	ensembl	human	known	74_37	silent	27.03		SNP	1.000	T	20	54
FAM73A	374986	genome.wustl.edu	37	1	78338777	78338777	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:78338777C>T	ENST00000370791.3	+	15	1684	c.1652C>T	c.(1651-1653)tCt>tTt	p.S551F	FAM73A_ENST00000443751.2_Missense_Mutation_p.S514F	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	551						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCTAGAAATTCTCTGTATGAT	0.363													ENSG00000180488																																					0													175.0	169.0	171.0					1																	78338777		2203	4300	6503	SO:0001583	missense	0			-		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1652C>T	1.37:g.78338777C>T	ENSP00000359827:p.Ser551Phe		Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.S551F	ENST00000370791.3	37	c.1652	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532347	0.85812	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.24151	1.87;1.87	5.67	5.67	0.87782	.	0.054406	0.85682	D	0.000000	T	0.45776	0.1359	M	0.69823	2.125	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.71656	0.974;0.948;0.948	T	0.41270	-0.9518	10	0.66056	D	0.02	-41.9077	19.7691	0.96356	0.0:1.0:0.0:0.0	.	514;552;551	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	F	551;514	ENSP00000359827:S551F;ENSP00000393675:S514F	ENSP00000359827:S551F	S	+	2	0	FAM73A	78111365	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.518000	0.67068	2.689000	0.91719	0.462000	0.41574	TCT	-	FAM73A	-	pfam_DUF2217		0.363	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	0	0		86	86		0.00		C	NM_198549		78338777	+1	12		86		tier1	no_errors	ENST00000370791	ensembl	human	known	74_37	missense	12.24		SNP	1.000	T	12	86
RFPL3	10738	genome.wustl.edu	37	22	32756661	32756661	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32756661C>T	ENST00000249007.4	+	2	1001	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.H237Y|RFPL3_ENST00000382088.3_Missense_Mutation_p.H237Y	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	266	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AAGTGGTTCCCATGTCTATAC	0.478													ENSG00000128276																																					0													102.0	88.0	93.0					22																	32756661		2203	4300	6503	SO:0001583	missense	0			-	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.796C>T	22.37:g.32756661C>T	ENSP00000249007:p.His266Tyr		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.H266Y	ENST00000249007.4	37	c.796	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422412	0.43020	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.63417	-0.04;-0.04;-0.04	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.81269	0.4787	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81378	-0.0960	9	0.59425	D	0.04	.	8.6203	0.33857	0.0:1.0:0.0:0.0	.	266	O75679	RFPL3_HUMAN	Y	237;266;237	ENSP00000380609:H237Y;ENSP00000249007:H266Y;ENSP00000371520:H237Y	ENSP00000249007:H266Y	H	+	1	0	RFPL3	31086661	0.186000	0.23225	0.015000	0.15790	0.040000	0.13550	1.485000	0.35519	0.630000	0.30394	0.205000	0.17691	CAT	-	RFPL3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.478	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	0	0		113	113		0.00		C	NM_006604		32756661	+1	17		143		tier1	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	10.62		SNP	0.964	T	17	143
KRT8P47	644743	genome.wustl.edu	37	1	44569683	44569683	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:44569683C>T	ENST00000434244.1	+	0	1680																											CTGTCCGTGTCCATGGAGCGG	0.582													ENSG00000230615																																					0																																												0			-																													1.37:g.44569683C>T				R	SNP	-	NULL	ENST00000434244.1	37	NULL		1																																																																																			-	RP5-1198O20.4	-	-		0.582	RP5-1198O20.4-001	KNOWN	basic	lincRNA	ENSG00000230615	Clone_based_vega_gene	lincRNA	OTTHUMT00000022875.2	0	0		42	42		0.00		C			44569683	+1	5		41		tier1	no_errors	ENST00000434244	ensembl	human	known	74_37	rna	10.87		SNP	1.000	T	5	41
SPINK7	84651	genome.wustl.edu	37	5	147692067	147692067	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:147692067C>T	ENST00000274565.4	+	1	82	c.21C>T	c.(19-21)ctC>ctT	p.L7L	RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_5'Flank|SPINK7_ENST00000514394.1_3'UTR	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	7						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGGTCTCCTTCTGCTCT	0.458													ENSG00000145879																																					0													175.0	151.0	159.0					5																	147692067		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS4289.1	5q32	2011-08-31			ENSG00000145879	ENSG00000145879		"""Serine peptidase inhibitors, Kazal type"""	24643	protein-coding gene	gene with protein product	"""esophagus cancer related gene 2"""					12646258, 12970870	Standard	NM_032566		Approved	ECG2, ECRG2	uc003lpd.3	P58062	OTTHUMG00000163522	ENST00000274565.4:c.21C>T	5.37:g.147692067C>T			Q32LY0	Silent	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.L7	ENST00000274565.4	37	c.21	CCDS4289.1	5																																																																																			-	SPINK7	-	NULL		0.458	SPINK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK7	HGNC	protein_coding	OTTHUMT00000251944.5	0	0		104	104		0.00		C	NM_032566		147692067	+1	39		59		tier1	no_errors	ENST00000274565	ensembl	human	known	74_37	silent	39.80		SNP	0.995	T	39	59
GPR139	124274	genome.wustl.edu	37	16	20043818	20043818	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:20043818C>T	ENST00000570682.1	-	2	601	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	101					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGATCTTGTCGGGGACCTGA	0.483													ENSG00000180269																																					0													110.0	96.0	101.0					16																	20043818		2203	4300	6503	SO:0001583	missense	0			-	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.301G>A	16.37:g.20043818C>T	ENSP00000458791:p.Asp101Asn		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D101N	ENST00000570682.1	37	c.301	CCDS32398.1	16	.	.	.	.	.	.	.	.	.	.	C	3.873	-0.027440	0.07589	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	-1.5	0.08691	GPCR, rhodopsin-like superfamily (1);	0.303136	0.40554	N	0.001078	T	0.19248	0.0462	N	0.04959	-0.14	0.27394	N	0.955046	B	0.06786	0.001	B	0.06405	0.002	T	0.12243	-1.0555	9	0.62326	D	0.03	-23.0827	9.771	0.40589	0.0:0.4841:0.0:0.5159	.	101	Q6DWJ6	GP139_HUMAN	N	101	.	ENSP00000370779:D101N	D	-	1	0	GPR139	19951319	0.966000	0.33281	0.053000	0.19242	0.284000	0.27059	1.798000	0.38814	-0.549000	0.06191	-0.136000	0.14681	GAC	-	GPR139	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	0	0		38	38		0.00		C	NM_001002911		20043818	-1	23		50		tier1	no_errors	ENST00000570682	ensembl	human	known	74_37	missense	31.08		SNP	0.340	T	23	50
FBXO46	23403	genome.wustl.edu	37	19	46216306	46216306	+	Missense_Mutation	SNP	G	G	A	rs377664802		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:46216306G>A	ENST00000317683.3	-	2	581	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	150										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCCCTCCCGGCCCCCTGGG	0.701													ENSG00000177051																																					0									TRP/ARG	0,3664		0,0,1832	6.0	8.0	7.0		448	1.9	0.5	19		7	2,8004		0,2,4001	no	missense	FBXO46	NM_001080469.1	101	0,2,5833	AA,AG,GG		0.025,0.0,0.0171	possibly-damaging	150/604	46216306	2,11668	1832	4003	5835	SO:0001583	missense	0			-	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.448C>T	19.37:g.46216306G>A	ENSP00000410007:p.Arg150Trp			Missense_Mutation	SNP	superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.R150W	ENST00000317683.3	37	c.448	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	g	3.130	-0.178618	0.06380	0.0	2.5E-4	ENSG00000177051	ENST00000317683	.	.	.	4.24	1.92	0.25849	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	P	0.44281	0.831	B	0.33042	0.157	T	0.08207	-1.0733	8	0.40728	T	0.16	-0.0091	7.0387	0.25008	0.0:0.1904:0.613:0.1966	.	150	Q6PJ61	FBX46_HUMAN	W	150	.	ENSP00000410007:R150W	R	-	1	2	FBXO46	50908146	0.605000	0.26941	0.455000	0.27031	0.002000	0.02628	-0.034000	0.12225	0.988000	0.38734	-0.310000	0.09108	CGG	-	FBXO46	-	NULL		0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	0	0		54	54		0.00		G	XM_371179		46216306	-1	23		83		tier1	no_errors	ENST00000317683	ensembl	human	known	74_37	missense	21.70		SNP	0.093	A	23	83
PPP5C	5536	genome.wustl.edu	37	19	46879824	46879824	+	Missense_Mutation	SNP	C	C	T	rs199770924		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:46879824C>T	ENST00000012443.4	+	4	729	c.626C>T	c.(625-627)gCc>gTc	p.A209V	PPP5C_ENST00000391919.1_Missense_Mutation_p.A103V	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	209	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CGGAAATGTGCCTACCAGGTA	0.547													ENSG00000011485																																					0													101.0	86.0	91.0					19																	46879824		2203	4300	6503	SO:0001583	missense	0			GMAF=0		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.626C>T	19.37:g.46879824C>T	ENSP00000012443:p.Ala209Val		Q16722|Q53XV2	Missense_Mutation	SNP	pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.A209V	ENST00000012443.4	37	c.626	CCDS12684.1	19	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.16	2.153360	0.38021	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.40225	1.04;1.04	4.1	4.1	0.47936	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Serine/threonine phosphatase, PPP5 (1);	0.000000	0.50627	U	0.000120	T	0.25754	0.0627	L	0.28458	0.855	0.80722	D	1	B;B	0.28324	0.207;0.026	B;B	0.31337	0.128;0.018	T	0.04855	-1.0922	10	0.06891	T	0.86	-18.7528	7.9009	0.29734	0.0:0.8892:0.0:0.1108	.	209;209	B2R6R6;P53041	.;PPP5_HUMAN	V	209;196;103	ENSP00000012443:A209V;ENSP00000375786:A103V	ENSP00000012443:A209V	A	+	2	0	PPP5C	51571664	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.390000	0.66261	2.292000	0.77174	0.655000	0.94253	GCC	rs199770924	PPP5C	-	pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5		0.547	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	0	0		55	55		0.00		C	NM_006247		46879824	+1	18		49		tier1	no_errors	ENST00000012443	ensembl	human	known	74_37	missense	26.87		SNP	1.000	T	18	49
ADIPOR1	51094	genome.wustl.edu	37	1	202914123	202914123	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:202914123C>T	ENST00000340990.5	-	5	903	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R202Q	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	202					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGAAAAAGTCCGAGAGACTTT	0.448													ENSG00000159346																																					0													125.0	132.0	130.0					1																	202914123		2203	4300	6503	SO:0001583	missense	0			-		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.605G>A	1.37:g.202914123C>T	ENSP00000341785:p.Arg202Gln		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	pfam_HlyIII-related	p.R202Q	ENST00000340990.5	37	c.605	CCDS1430.1	1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843750	0.71488	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000426229	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	6.17	4.33	0.51752	.	0.049065	0.85682	N	0.000000	T	0.30854	0.0778	L	0.60957	1.885	0.80722	D	1	B	0.15719	0.014	B	0.19391	0.025	T	0.05370	-1.0889	10	0.34782	T	0.22	.	12.0707	0.53616	0.0:0.8609:0.0:0.1391	.	202	Q96A54	ADR1_HUMAN	Q	202	ENSP00000341785:R202Q;ENSP00000395469:R202Q;ENSP00000402178:R202Q;ENSP00000392946:R202Q	ENSP00000341785:R202Q	R	-	2	0	ADIPOR1	201180746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.805000	0.86005	0.955000	0.37878	-0.140000	0.14226	CGG	-	ADIPOR1	-	pfam_HlyIII-related		0.448	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR1	HGNC	protein_coding	OTTHUMT00000099160.2	0	0		49	49		0.00		C	NM_015999		202914123	-1	33		37		tier1	no_errors	ENST00000340990	ensembl	human	known	74_37	missense	47.14		SNP	1.000	T	33	37
CYP4F12	66002	genome.wustl.edu	37	19	15791085	15791085	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15791085C>T	ENST00000550308.1	+	4	755	c.375C>T	c.(373-375)atC>atT	p.I125I	CYP4F12_ENST00000324632.10_Silent_p.I125I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	125					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATCTCTTCATCAGGTTCCTGA	0.572													ENSG00000186204																																					0													129.0	133.0	132.0					19																	15791085		2189	4295	6484	SO:0001819	synonymous_variant	0			-	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.375C>T	19.37:g.15791085C>T			E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	NULL	p.S100L	ENST00000550308.1	37	c.299	CCDS42517.1	19																																																																																			-	CYP4F12	-	NULL		0.572	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	0	0		63	63		0.00		C			15791085	+1	22		59		tier1	no_errors	ENST00000517734	ensembl	human	known	74_37	missense	26.83		SNP	0.002	T	22	59
ZDHHC3	51304	genome.wustl.edu	37	3	44974451	44974451	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:44974451C>T	ENST00000424952.2	-	5	879				ZDHHC3_ENST00000342790.4_Intron|ZDHHC3_ENST00000296127.3_Silent_p.E214E	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3						protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		AGATTCCAGTCTCTGCCATTT	0.493													ENSG00000163812																																					0													177.0	174.0	175.0					3																	44974451		2203	4300	6503	SO:0001627	intron_variant	0			-	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.610+158G>A	3.37:g.44974451C>T			Q53A17|Q96BL0	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.E214	ENST00000424952.2	37	c.642	CCDS46811.1	3																																																																																			-	ZDHHC3	-	NULL		0.493	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	HGNC	protein_coding	OTTHUMT00000347004.1	0	0		36	36		0.00		C	NM_016598		44974451	-1	23		43		tier1	no_errors	ENST00000296127	ensembl	human	known	74_37	silent	34.33		SNP	0.043	T	23	43
CUBN	8029	genome.wustl.edu	37	10	16955938	16955938	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:16955938G>A	ENST00000377833.4	-	48	7470	c.7405C>T	c.(7405-7407)Ccg>Tcg	p.P2469S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2469	CUB 18. {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)	TTTGGGTTCGGGTAGTTGGGA	0.502													ENSG00000107611																																					0													98.0	95.0	96.0					10																	16955938		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.7405C>T	10.37:g.16955938G>A	ENSP00000367064:p.Pro2469Ser		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.P2469S	ENST00000377833.4	37	c.7405	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906580	0.92107	.	.	ENSG00000107611	ENST00000377833	T	0.52754	0.65	5.42	5.42	0.78866	CUB (5);	0.154695	0.30501	N	0.009498	T	0.80188	0.4577	H	0.97240	3.965	0.80722	D	1	D	0.65815	0.995	D	0.66084	0.941	D	0.87302	0.2306	10	0.72032	D	0.01	.	19.2242	0.93812	0.0:0.0:1.0:0.0	.	2469	O60494	CUBN_HUMAN	S	2469	ENSP00000367064:P2469S	ENSP00000367064:P2469S	P	-	1	0	CUBN	16995944	1.000000	0.71417	0.861000	0.33841	0.889000	0.51656	7.262000	0.78410	2.553000	0.86117	0.591000	0.81541	CCG	-	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.502	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	0	0		131	131		0.00		G	NM_001081		16955938	-1	67		116		tier1	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	36.22		SNP	1.000	A	67	116
SPOCD1	90853	genome.wustl.edu	37	1	32280233	32280233	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:32280233C>T	ENST00000360482.2	-	2	831	c.702G>A	c.(700-702)ggG>ggA	p.G234G	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.G234G|SPOCD1_ENST00000373648.2_Silent_p.G234G	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	234					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGAGGTTGTCCCCACGAGGGC	0.587													ENSG00000134668																																					0													102.0	100.0	101.0					1																	32280233		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.702G>A	1.37:g.32280233C>T			Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.G234	ENST00000360482.2	37	c.702	CCDS347.1	1																																																																																			-	SPOCD1	-	NULL		0.587	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1	0	0		51	51		0.00		C	NM_144569		32280233	-1	18		80		tier1	no_errors	ENST00000360482	ensembl	human	known	74_37	silent	18.37		SNP	0.770	T	18	80
FOXRED2	80020	genome.wustl.edu	37	22	36900239	36900239	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:36900239G>A	ENST00000397224.4	-	4	1048	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	FOXRED2_ENST00000216187.6_Missense_Mutation_p.P319S|FOXRED2_ENST00000397223.4_Missense_Mutation_p.P319S	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	319					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCGTCCTGGGGGAGGGTGATG	0.532													ENSG00000100350																																					0													98.0	79.0	85.0					22																	36900239		2203	4300	6503	SO:0001583	missense	0			-	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.955C>T	22.37:g.36900239G>A	ENSP00000380401:p.Pro319Ser		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/D	p.P319S	ENST00000397224.4	37	c.955	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336468	0.60963	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.14144	2.53;2.53;2.53	5.01	5.01	0.66863	.	0.154016	0.64402	D	0.000018	T	0.17746	0.0426	M	0.63843	1.955	0.58432	D	0.999999	P	0.36438	0.553	B	0.32928	0.155	T	0.02539	-1.1144	10	0.40728	T	0.16	-42.8467	18.5148	0.90931	0.0:0.0:1.0:0.0	.	319	Q8IWF2	FXRD2_HUMAN	S	319	ENSP00000380401:P319S;ENSP00000216187:P319S;ENSP00000380400:P319S	ENSP00000216187:P319S	P	-	1	0	FOXRED2	35230185	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.990000	0.56965	2.606000	0.88127	0.655000	0.94253	CCC	-	FOXRED2	-	NULL		0.532	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	0	0		61	61		0.00		G	NM_024955		36900239	-1	29		43		tier1	no_errors	ENST00000216187	ensembl	human	known	74_37	missense	40.28		SNP	1.000	A	29	43
SET	6418	genome.wustl.edu	37	9	131454159	131454159	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:131454159G>A	ENST00000372692.4	+	3	434	c.193G>A	c.(193-195)Gag>Aag	p.E65K	SET_ENST00000322030.8_Missense_Mutation_p.E52K|SET_ENST00000372688.4_Missense_Mutation_p.E41K|SET_ENST00000477806.1_3'UTR|SET_ENST00000409104.3_Missense_Mutation_p.E43K	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	65	Dimerization.				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)		AGCCAGTGAGGAGATTTTGAA	0.328			T	NUP214	AML								ENSG00000119335																												Dom	yes		9	9q34	6418	SET translocation		L	0													20.0	21.0	21.0					9																	131454159		2193	4295	6488	SO:0001583	missense	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.193G>A	9.37:g.131454159G>A	ENSP00000361777:p.Glu65Lys		A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	pfam_P_family	p.E65K	ENST00000372692.4	37	c.193	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810266	0.90707	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.58428	1.81	0.80722	D	1	P;P;P	0.45011	0.635;0.794;0.848	P;P;P	0.54924	0.461;0.523;0.764	T	0.50030	-0.8875	10	0.46703	T	0.11	.	17.3156	0.87222	0.0:0.0:1.0:0.0	.	41;52;65	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	K	65;43;52;41;40	ENSP00000361777:E65K;ENSP00000387321:E43K;ENSP00000318012:E52K;ENSP00000361773:E41K;ENSP00000361771:E40K	ENSP00000318012:E52K	E	+	1	0	SET	130493980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.107000	0.94261	2.312000	0.78011	0.555000	0.69702	GAG	-	SET	-	pfam_P_family		0.328	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	0	0		45	45		0.00		G	NM_001122821		131454159	+1	20		22		tier1	no_errors	ENST00000372692	ensembl	human	known	74_37	missense	47.62		SNP	1.000	A	20	22
SCD5	79966	genome.wustl.edu	37	4	83601976	83601976	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:83601976G>A	ENST00000319540.4	-	3	772	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SCD5_ENST00000273908.4_Silent_p.F151F	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	151					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGGAGAAGAAGAAGCCCCGGC	0.547													ENSG00000145284																																					0													105.0	112.0	109.0					4																	83601976		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.453C>T	4.37:g.83601976G>A			B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.F151	ENST00000319540.4	37	c.453	CCDS34024.1	4																																																																																			-	SCD5	-	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core		0.547	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	0	0		34	34		0.00		G	NM_024906		83601976	-1	20		54		tier1	no_errors	ENST00000319540	ensembl	human	known	74_37	silent	27.03		SNP	1.000	A	20	54
FNDC7	163479	genome.wustl.edu	37	1	109261501	109261501	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:109261501C>T	ENST00000370017.3	+	4	705	c.428C>T	c.(427-429)tCc>tTc	p.S143F	FNDC7_ENST00000271311.2_Missense_Mutation_p.S144F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	143	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ATTGCATTCTCCGTGTCCATT	0.433													ENSG00000143107																																					0													82.0	71.0	74.0					1																	109261501		692	1591	2283	SO:0001583	missense	0			-		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.428C>T	1.37:g.109261501C>T	ENSP00000359034:p.Ser143Phe		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S144F	ENST00000370017.3	37	c.431	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995793	0.54147	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.58652	0.32;0.32	5.69	5.69	0.88448	.	0.101621	0.64402	D	0.000002	T	0.41465	0.1160	L	0.56769	1.78	0.48185	D	0.999609	B	0.25351	0.124	B	0.28465	0.09	T	0.31530	-0.9940	10	0.27785	T	0.31	-19.9927	14.0259	0.64586	0.0:0.9278:0.0:0.0722	.	143	E9PAZ5	.	F	143;144	ENSP00000359034:S143F;ENSP00000271311:S144F	ENSP00000271311:S144F	S	+	2	0	FNDC7	109063024	1.000000	0.71417	0.982000	0.44146	0.755000	0.42902	4.904000	0.63279	2.684000	0.91462	0.655000	0.94253	TCC	-	FNDC7	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	0	0		34	34		0.00		C	NM_173532		109261501	+1	6		40		tier1	no_errors	ENST00000271311	ensembl	human	known	74_37	missense	13.04		SNP	0.998	T	6	40
POLQ	10721	genome.wustl.edu	37	3	121207015	121207015	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:121207015G>A	ENST00000264233.5	-	16	4891	c.4763C>T	c.(4762-4764)cCt>cTt	p.P1588L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1588					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)		TAATGCTCTAGGAGATACTAC	0.368								DNA polymerases (catalytic subunits)					ENSG00000051341																									Pancreas(152;907 1925 26081 31236 36904)												0													148.0	143.0	145.0					3																	121207015		2203	4300	6503	SO:0001583	missense	0			-	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4763C>T	3.37:g.121207015G>A	ENSP00000264233:p.Pro1588Leu		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_D-dir_D_pol_A_palm_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_D-dir_D_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_D_polymerase_A	p.P1588L	ENST00000264233.5	37	c.4763	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	0	-2.660464	0.00107	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43294	0.95	6.17	1.21	0.21127	.	0.873077	0.09966	N	0.732800	T	0.15955	0.0384	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21861	-1.0233	10	0.30078	T	0.28	.	3.7532	0.08575	0.5146:0.0:0.2206:0.2648	.	1588;760	O75417;O75417-2	DPOLQ_HUMAN;.	L	1211;1588;1724	ENSP00000264233:P1588L	ENSP00000264233:P1588L	P	-	2	0	POLQ	122689705	0.071000	0.21146	0.003000	0.11579	0.012000	0.07955	1.149000	0.31626	0.183000	0.20059	-0.302000	0.09304	CCT	-	POLQ	-	NULL		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	0	0		31	31		0.00		G	NM_199420		121207015	-1	5		21		tier1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	19.23		SNP	0.001	A	5	21
LOC441666	441666	genome.wustl.edu	37	10	42831524	42831524	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:42831524C>T	ENST00000609841.1	-	0	2379					NR_024380.1																						GGCCTGAAGACTGCTTAAAAA	0.373													ENSG00000215146																																					0																																												0			-																													10.37:g.42831524C>T				R	SNP	-	NULL	ENST00000609841.1	37	NULL		10																																																																																			-	RP11-313J2.1	-	-		0.373	RP11-313J2.1-002	KNOWN	basic	processed_transcript	LOC441666	Clone_based_vega_gene	pseudogene	OTTHUMT00000472483.1	0	0		148	148		0.00		C			42831524	-1	63		86		tier1	no_errors	ENST00000609841	ensembl	human	known	74_37	rna	42.28		SNP	0.020	T	63	86
DGKB	1607	genome.wustl.edu	37	7	14217733	14217733	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:14217733G>A	ENST00000403951.2	-	24	2588	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	DGKB_ENST00000407950.1_Silent_p.A715A|DGKB_ENST00000402815.1_Silent_p.A722A|DGKB_ENST00000444700.2_Silent_p.A704A|DGKB_ENST00000406247.3_Silent_p.A723A|DGKB_ENST00000258767.5_Silent_p.A723A|DGKB_ENST00000399322.3_Silent_p.A723A			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	723					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						CCATCTCCATGGCTCCTTCCA	0.498													ENSG00000136267																																					0													83.0	91.0	88.0					7																	14217733		2117	4280	6397	SO:0001819	synonymous_variant	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.2169C>T	7.37:g.14217733G>A			A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	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.A723	ENST00000403951.2	37	c.2169	CCDS47547.1	7																																																																																			-	DGKB	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.498	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	0	0		39	39		0.00		G	NM_004080		14217733	-1	6		67		tier1	no_errors	ENST00000258767	ensembl	human	known	74_37	silent	8.22		SNP	1.000	A	6	67
QARS	5859	genome.wustl.edu	37	3	49133432	49133432	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49133432G>A	ENST00000306125.6	-	0	2695				QRICH1_ENST00000395443.2_5'Flank|QARS_ENST00000414533.1_3'UTR|QRICH1_ENST00000424300.1_5'Flank|QRICH1_ENST00000357496.2_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase						brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ACACCCTCCAGGAGGATGAGG	0.498													ENSG00000172053																																					0													76.0	58.0	64.0					3																	49133432		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.*30C>T	3.37:g.49133432G>A			B4DWJ2	R	SNP	-	NULL	ENST00000306125.6	37	NULL	CCDS2788.1	3																																																																																			-	QARS	-	-		0.498	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	0	0		38	38		0.00		G	NM_005051		49133432	-1	24		40		tier1	no_errors	ENST00000466179	ensembl	human	known	74_37	rna	37.50		SNP	0.003	A	24	40
OR13C3	138803	genome.wustl.edu	37	9	107299036	107299036	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:107299036C>T	ENST00000374781.2	-	1	101	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	20						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(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AAAAGAAGATCTAACATGAAA	0.358													ENSG00000204246																									GBM(86;1248 1274 14222 15028 46219)												0													66.0	65.0	65.0					9																	107299036		2203	4300	6503	SO:0001583	missense	0			-		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.59G>A	9.37:g.107299036C>T	ENSP00000363913:p.Arg20Lys		Q5VVG1|Q6IF52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R20K	ENST00000374781.2	37	c.59	CCDS35089.1	9	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992905	0.35131	.	.	ENSG00000204246	ENST00000374781	T	0.07567	3.18	5.09	-6.55	0.01854	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45249	-0.9274	9	0.16420	T	0.52	.	0.8799	0.01232	0.1875:0.2645:0.2781:0.2698	.	20	Q8NGS6	O13C3_HUMAN	K	20	ENSP00000363913:R20K	ENSP00000363913:R20K	R	-	2	0	OR13C3	106338857	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.472000	0.00989	-0.870000	0.04047	0.655000	0.94253	AGA	-	OR13C3	-	NULL		0.358	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	0	0		30	30		0.00		C			107299036	-1	15		21		tier1	no_errors	ENST00000374781	ensembl	human	known	74_37	missense	41.67		SNP	0.000	T	15	21
MYOCD	93649	genome.wustl.edu	37	17	12626276	12626276	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:12626276G>A	ENST00000343344.4	+	5	366	c.366G>A	c.(364-366)gtG>gtA	p.V122V	MYOCD_ENST00000425538.1_Silent_p.V122V|AC005358.1_ENST00000609971.1_Silent_p.V26V|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	122					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGGAGCTGGTGGAAAAAAACA	0.468													ENSG00000141052																																					0													131.0	134.0	133.0					17																	12626276		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.366G>A	17.37:g.12626276G>A			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.V122	ENST00000343344.4	37	c.366	CCDS11163.1	17																																																																																			-	MYOCD	-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat		0.468	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	0	0		56	56		0.00		G	NM_153604		12626276	+1	28		58		tier1	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	32.56		SNP	1.000	A	28	58
SLX4	84464	genome.wustl.edu	37	16	3641302	3641302	+	Silent	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3641302C>A	ENST00000294008.3	-	12	2977	c.2337G>T	c.(2335-2337)gtG>gtT	p.V779V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	779	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGAGCTCACTCACGCCAAACC	0.597								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	ENSG00000188827																																					0													67.0	65.0	66.0					16																	3641302		2197	4300	6497	SO:0001819	synonymous_variant	0			-	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2337G>T	16.37:g.3641302C>A		612	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V779	ENST00000294008.3	37	c.2337	CCDS10506.2	16																																																																																			-	SLX4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.597	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	0	0		25	25		0.00		C	NM_032444		3641302	-1	16		12		tier1	no_errors	ENST00000294008	ensembl	human	known	74_37	silent	57.14		SNP	0.161	A	16	12
ARHGAP31	57514	genome.wustl.edu	37	3	119133768	119133768	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:119133768G>A	ENST00000264245.4	+	12	3524	c.2992G>A	c.(2992-2994)Gga>Aga	p.G998R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	998					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAGATTACTGGATGGGATGA	0.557													ENSG00000031081																									Pancreas(7;176 297 5394 51128 51241)												0													52.0	54.0	54.0					3																	119133768		1906	4130	6036	SO:0001583	missense	0			-		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2992G>A	3.37:g.119133768G>A	ENSP00000264245:p.Gly998Arg		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G998R	ENST00000264245.4	37	c.2992	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	4.838	0.155753	0.09236	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06768	3.26	5.05	3.24	0.37175	.	0.537286	0.17120	N	0.186252	T	0.06280	0.0162	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33904	-0.9850	10	0.37606	T	0.19	.	5.2752	0.15645	0.1797:0.3234:0.4969:0.0	.	998	Q2M1Z3	RHG31_HUMAN	R	998	ENSP00000264245:G998R	ENSP00000264245:G998R	G	+	1	0	ARHGAP31	120616458	0.016000	0.18221	0.003000	0.11579	0.850000	0.48378	2.032000	0.41127	0.693000	0.31634	0.561000	0.74099	GGA	-	ARHGAP31	-	NULL		0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	0	0		39	39		0.00		G			119133768	+1	17		26		tier1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	39.53		SNP	0.000	A	17	26
CHTOP	26097	genome.wustl.edu	37	1	153614779	153614779	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:153614779G>A	ENST00000368694.3	+	4	589	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	CHTOP_ENST00000368690.3_Missense_Mutation_p.G93R|CHTOP_ENST00000368687.1_Missense_Mutation_p.G68R|CHTOP_ENST00000368686.1_Missense_Mutation_p.G54R|CHTOP_ENST00000403433.1_Missense_Mutation_p.G93R|CHTOP_ENST00000495554.1_Intron	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	93	Arg/Gly-rich.				mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CCGACCCATAGGGGCCCTGGC	0.567													ENSG00000160679																																					0													55.0	56.0	56.0					1																	153614779		2203	4300	6503	SO:0001583	missense	0			-		CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.277G>A	1.37:g.153614779G>A	ENSP00000357683:p.Gly93Arg		D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP	NULL	p.G93R	ENST00000368694.3	37	c.277	CCDS1048.1	1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274235	0.59649	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687;ENST00000368686	D;D;D;D	0.90197	-2.49;-2.63;-2.63;-2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.93353	0.6720	10	0.72032	D	0.01	-0.6779	17.243	0.87019	0.0:0.0:1.0:0.0	.	93;94;93	Q9Y3Y2-4;Q9Y3Y2-3;Q9Y3Y2	.;.;CHTOP_HUMAN	R	93;93;93;68;54	ENSP00000357683:G93R;ENSP00000385228:G93R;ENSP00000357679:G93R;ENSP00000357676:G68R	ENSP00000357675:G54R	G	+	1	0	CHTOP	151881403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.336000	0.96533	2.937000	0.99478	0.650000	0.86243	GGG	-	CHTOP	-	NULL		0.567	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHTOP	HGNC	protein_coding	OTTHUMT00000089967.1	0	0		62	62		0.00		G	NM_015607		153614779	+1	41		80		tier1	no_errors	ENST00000368694	ensembl	human	known	74_37	missense	33.61		SNP	1.000	A	41	80
APLNR	187	genome.wustl.edu	37	11	57004039	57004039	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:57004039G>A	ENST00000606794.1	-	1	636	c.440C>T	c.(439-441)gCc>gTc	p.A147V		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	147					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGTGGCCACGGCCCCGCTGAC	0.657													ENSG00000134817																																					0													31.0	29.0	29.0					11																	57004039		2200	4294	6494	SO:0001583	missense	0			-	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.440C>T	11.37:g.57004039G>A	ENSP00000475344:p.Ala147Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.A147V	ENST00000606794.1	37	c.440	CCDS7950.1	11	.	.	.	.	.	.	.	.	.	.	G	7.513	0.655143	0.14580	.	.	ENSG00000134817	ENST00000257254	T	0.36157	1.27	5.25	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.885835	0.09854	N	0.747141	T	0.25121	0.0610	L	0.33792	1.035	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08889	-1.0700	10	0.45353	T	0.12	-13.6235	3.0751	0.06243	0.1981:0.2958:0.5062:0.0	.	147	P35414	APJ_HUMAN	V	147	ENSP00000257254:A147V	ENSP00000257254:A147V	A	-	2	0	APLNR	56760615	0.001000	0.12720	0.987000	0.45799	0.688000	0.40055	0.742000	0.26216	2.448000	0.82819	0.555000	0.69702	GCC	-	APLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.657	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	0	0		23	23		0.00		G	NM_005161		57004039	-1	11		17		tier1	no_errors	ENST00000257254	ensembl	human	known	74_37	missense	39.29		SNP	0.062	A	11	17
KCNJ5	3762	genome.wustl.edu	37	11	128786615	128786615	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:128786615G>A	ENST00000338350.4	+	4	1601	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	KCNJ5_ENST00000529694.1_Missense_Mutation_p.G417S|KCNJ5_ENST00000533599.1_Missense_Mutation_p.G417S			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	417					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GGAGGCCAGGGGCTCGGTGTG	0.632													ENSG00000120457																									Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0													9.0	10.0	9.0					11																	128786615		2176	4228	6404	SO:0001583	missense	0			-	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1249G>A	11.37:g.128786615G>A	ENSP00000339960:p.Gly417Ser		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.G417S	ENST00000338350.4	37	c.1249	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	g	8.048	0.765423	0.15914	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.88354	-2.37;-2.37;-2.37	4.06	3.04	0.35103	.	1.615960	0.03827	N	0.268493	T	0.79747	0.4499	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67078	-0.5761	10	0.48119	T	0.1	.	8.5549	0.33476	0.1291:0.0:0.8709:0.0	.	417	P48544	IRK5_HUMAN	S	417	ENSP00000433295:G417S;ENSP00000339960:G417S;ENSP00000434266:G417S	ENSP00000339960:G417S	G	+	1	0	KCNJ5	128291825	0.998000	0.40836	0.730000	0.30809	0.099000	0.18886	2.806000	0.47947	2.120000	0.65058	0.466000	0.42574	GGC	-	KCNJ5	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4		0.632	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	0	0		51	51		0.00		G	NM_000890		128786615	+1	25		62		tier1	no_errors	ENST00000529694	ensembl	human	known	74_37	missense	28.74		SNP	0.004	A	25	62
SHOC2	8036	genome.wustl.edu	37	10	112769129	112769129	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:112769129C>T	ENST00000369452.4	+	7	1753	c.1408C>T	c.(1408-1410)Ctt>Ttt	p.L470F	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Missense_Mutation_p.L424F	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	470					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AATTGCATATCTTAAGGATTT	0.323													ENSG00000108061																																					0													52.0	55.0	54.0					10																	112769129		2202	4293	6495	SO:0001583	missense	0			-	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1408C>T	10.37:g.112769129C>T	ENSP00000358464:p.Leu470Phe		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L470F	ENST00000369452.4	37	c.1408	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091474	0.76756	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.35973	1.28;1.28;1.28	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.83483	2.645	0.80722	D	1	B;P	0.50369	0.376;0.934	B;P	0.51701	0.146;0.677	T	0.62167	-0.6911	10	0.66056	D	0.02	.	20.3866	0.98944	0.0:1.0:0.0:0.0	.	424;470	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	F	424;470;260	ENSP00000265277:L424F;ENSP00000358464:L470F;ENSP00000408275:L260F	ENSP00000265277:L424F	L	+	1	0	SHOC2	112759119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.569000	0.82380	2.826000	0.97356	0.650000	0.86243	CTT	-	SHOC2	-	smart_Leu-rich_rpt_typical-subtyp		0.323	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	0	0		51	51		0.00		C	NM_007373		112769129	+1	12		32		tier1	no_errors	ENST00000369452	ensembl	human	known	74_37	missense	27.27		SNP	1.000	T	12	32
FAM19A2	338811	genome.wustl.edu	37	12	62148676	62148676	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:62148676C>T	ENST00000416284.3	-	3	1820	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	FAM19A2_ENST00000551619.1_Missense_Mutation_p.R79Q|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	79						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGGAGCAGCTCGCGTGGTGCC	0.502													ENSG00000198673																																					0													168.0	115.0	133.0					12																	62148676		2203	4300	6503	SO:0001583	missense	0			-	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.236G>A	12.37:g.62148676C>T	ENSP00000393987:p.Arg79Gln		B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.R79Q	ENST00000416284.3	37	c.236	CCDS8962.1	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701630	0.88924	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.77791	0.4183	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	P	0.60286	0.872	T	0.78949	-0.2002	8	.	.	.	.	18.8508	0.92227	0.0:1.0:0.0:0.0	.	79	Q8N3H0	F19A2_HUMAN	Q	79;79;80;86;80	.	.	R	-	2	0	FAM19A2	60434943	1.000000	0.71417	0.960000	0.40013	0.485000	0.33311	7.752000	0.85141	2.455000	0.83008	0.558000	0.71614	CGA	-	FAM19A2	-	pfam_Chemokine-like_FAM19A2		0.502	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A2	HGNC	protein_coding	OTTHUMT00000407967.2	0	0		48	48		0.00		C	NM_178539		62148676	-1	7		43		tier1	no_errors	ENST00000416284	ensembl	human	known	74_37	missense	13.73		SNP	1.000	T	7	43
TET1	80312	genome.wustl.edu	37	10	70450581	70450581	+	Silent	SNP	C	C	T	rs201000084		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:70450581C>T	ENST00000373644.4	+	12	5630	c.5421C>T	c.(5419-5421)acC>acT	p.T1807T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1807					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						ACACTGAGACCGTGCAACCTG	0.383													ENSG00000138336	C|||	1	0.000199681	0.0	0.0	5008	,	,		16768	0.001		0.0	False		,,,				2504	0.0																0													78.0	80.0	79.0					10																	70450581		2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	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.5421C>T	10.37:g.70450581C>T			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.T1807	ENST00000373644.4	37	c.5421	CCDS7281.1	10																																																																																			rs201000084	TET1	-	NULL		0.383	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	0	0		78	78		0.00		C	NM_030625		70450581	+1	36		54		tier1	no_errors	ENST00000373644	ensembl	human	known	74_37	silent	40.00		SNP	0.000	T	36	54
FSIP2	401024	genome.wustl.edu	37	2	186672991	186672991	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:186672991G>A	ENST00000424728.1	+	17	18958	c.18958G>A	c.(18958-18960)Gaa>Aaa	p.E6320K	FSIP2_ENST00000343098.5_Missense_Mutation_p.E6409K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6320										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAAATTATGGAAAAAGTGAT	0.328													ENSG00000188738																																					0													35.0	33.0	34.0					2																	186672991		1805	4055	5860	SO:0001583	missense	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18958G>A	2.37:g.186672991G>A	ENSP00000401306:p.Glu6320Lys		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.E6409K	ENST00000424728.1	37	c.19225		2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048046	0.75846	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.62105	0.05;0.06	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000034	T	0.67411	0.2890	L	0.49778	1.585	0.35353	D	0.78757	.	.	.	.	.	.	T	0.74200	-0.3742	8	0.45353	T	0.12	.	14.1271	0.65228	0.0:0.0:1.0:0.0	.	.	.	.	K	6409;6320	ENSP00000344403:E6409K;ENSP00000401306:E6320K	ENSP00000344403:E6409K	E	+	1	0	FSIP2	186381236	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.640000	0.37186	2.711000	0.92665	0.591000	0.81541	GAA	-	FSIP2	-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0		57	57		0.00		G	NM_173651		186672991	+1	16		59		tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	21.33		SNP	1.000	A	16	59
SLC1A1	6505	genome.wustl.edu	37	9	4572361	4572361	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:4572361C>T	ENST00000262352.3	+	7	976	c.740C>T	c.(739-741)aCc>aTc	p.T247I		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	247					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	AGTGATGCAACCATGAAAATC	0.398													ENSG00000106688																																					0													184.0	172.0	176.0					9																	4572361		2203	4300	6503	SO:0001583	missense	0			-		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.740C>T	9.37:g.4572361C>T	ENSP00000262352:p.Thr247Ile		O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.T247I	ENST00000262352.3	37	c.740	CCDS6452.1	9	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020644	0.54576	.	.	ENSG00000106688	ENST00000262352	T	0.55234	0.53	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	N	0.04043	-0.29	0.80722	D	1	B	0.22983	0.078	B	0.40534	0.332	T	0.27872	-1.0061	10	0.06365	T	0.9	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	247	P43005	EAA3_HUMAN	I	247	ENSP00000262352:T247I	ENSP00000262352:T247I	T	+	2	0	SLC1A1	4562361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.259000	0.51515	2.708000	0.92522	0.650000	0.86243	ACC	-	SLC1A1	-	pfam_Na-dicarboxylate_symporter		0.398	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A1	HGNC	protein_coding	OTTHUMT00000051571.1	0	0		53	53		0.00		C			4572361	+1	20		44		tier1	no_errors	ENST00000262352	ensembl	human	known	74_37	missense	31.25		SNP	1.000	T	20	44
MYOCD	93649	genome.wustl.edu	37	17	12639486	12639486	+	Missense_Mutation	SNP	G	G	T	rs575887022		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:12639486G>T	ENST00000343344.4	+	6	424	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	MYOCD_ENST00000425538.1_Missense_Mutation_p.V142L|AC005358.1_ENST00000609971.1_Missense_Mutation_p.V46L|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	142					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGTAACCAGGTGAGTTTCTC	0.473													ENSG00000141052																																					0													195.0	199.0	198.0					17																	12639486		2203	4300	6503	SO:0001583	missense	0			-	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.424G>T	17.37:g.12639486G>T	ENSP00000341835:p.Val142Leu		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.V142L	ENST00000343344.4	37	c.424	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282050	0.40394	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.47869	0.83	6.03	5.06	0.68205	.	0.196730	0.44285	D	0.000476	T	0.40886	0.1135	M	0.77313	2.365	0.35403	D	0.791773	P;P;B	0.40230	0.649;0.708;0.323	B;B;B	0.34242	0.149;0.178;0.071	T	0.46527	-0.9185	10	0.10636	T	0.68	-29.9171	8.819	0.35014	0.2114:0.0:0.7886:0.0	.	46;142;142	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	142;142;46	ENSP00000341835:V142L	ENSP00000341835:V142L	V	+	1	0	MYOCD	12580211	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.024000	0.64090	2.854000	0.98071	0.655000	0.94253	GTG	-	MYOCD	-	NULL		0.473	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	0	0		112	112		0.00		G	NM_153604		12639486	+1	24		106		tier1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	18.32		SNP	1.000	T	24	106
TFAP2B	7021	genome.wustl.edu	37	6	50810895	50810895	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:50810895C>T	ENST00000393655.3	+	7	1342	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	TFAP2B_ENST00000263046.4_Silent_p.I400I	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	391				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|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)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCGGGGATCCAGAGCTGCC	0.632													ENSG00000008196																									Pancreas(116;1373 2332 5475 10752)												0													66.0	74.0	71.0					6																	50810895		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1173C>T	6.37:g.50810895C>T			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.I400	ENST00000393655.3	37	c.1200	CCDS4934.2	6																																																																																			-	TFAP2B	-	pfam_TF_AP2_C		0.632	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	0	0		47	47		0.00		C	NM_003221		50810895	+1	16		44		tier1	no_errors	ENST00000263046	ensembl	human	known	74_37	silent	26.67		SNP	0.999	T	16	44
NKAIN2	154215	genome.wustl.edu	37	6	124979363	124979363	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:124979363C>T	ENST00000368417.1	+	4	365	c.305C>T	c.(304-306)tCa>tTa	p.S102L	NKAIN2_ENST00000368416.1_Missense_Mutation_p.S102L|NKAIN2_ENST00000545433.1_Missense_Mutation_p.S87L|NKAIN2_ENST00000546092.1_Intron	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TTTAATATATCAATGCACCGA	0.458													ENSG00000188580																																					0													119.0	118.0	118.0					6																	124979363		2203	4300	6503	SO:0001583	missense	0			-	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.305C>T	6.37:g.124979363C>T	ENSP00000357402:p.Ser102Leu		Q8IYR4|Q8TF67	Missense_Mutation	SNP	pfam_Na/K-Atpase_Interacting	p.S102L	ENST00000368417.1	37	c.305	CCDS34526.1	6	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654010	0.88056	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000539866;ENST00000545433	T;T;T	0.18960	2.18;2.18;2.18	5.71	5.71	0.89125	.	0.063315	0.64402	D	0.000003	T	0.47060	0.1425	M	0.85945	2.785	0.58432	D	0.999995	P;D;P;D	0.71674	0.626;0.981;0.77;0.998	B;D;B;D	0.70227	0.3;0.962;0.3;0.968	T	0.52801	-0.8527	10	0.87932	D	0	-5.9389	19.9132	0.97031	0.0:1.0:0.0:0.0	.	87;101;102;102	B3KNZ0;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	L	102;102;101;87	ENSP00000357401:S102L;ENSP00000357402:S102L;ENSP00000437798:S87L	ENSP00000357401:S102L	S	+	2	0	NKAIN2	125021062	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.433000	0.80362	2.710000	0.92621	0.644000	0.83932	TCA	-	NKAIN2	-	pfam_Na/K-Atpase_Interacting		0.458	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	0	0		63	63		0.00		C	NM_001040214		124979363	+1	18		64		tier1	no_errors	ENST00000368417	ensembl	human	known	74_37	missense	21.95		SNP	1.000	T	18	64
ERG	2078	genome.wustl.edu	37	21	39817383	39817383	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:39817383G>A	ENST00000417133.2	-	4	386	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ERG_ENST00000398905.1_Silent_p.P60P|ERG_ENST00000442448.1_Silent_p.P67P|ERG_ENST00000398911.1_Silent_p.P67P|ERG_ENST00000453032.2_Intron|ERG_ENST00000398897.1_Intron|ERG_ENST00000398910.1_Silent_p.P67P|ERG_ENST00000429727.2_Silent_p.P60P|ERG_ENST00000398907.1_Silent_p.P60P|ERG_ENST00000398919.2_Silent_p.P67P|ERG_ENST00000288319.7_Silent_p.P60P	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCCTGGCTGGGGGTTGAGACA	0.557			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								ENSG00000157554																									Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													92.0	77.0	82.0					21																	39817383		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.201C>T	21.37:g.39817383G>A			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P67	ENST00000417133.2	37	c.201	CCDS46648.1	21																																																																																			-	ERG	-	NULL		0.557	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	0	0		68	68		0.00		G	NM_182918		39817383	-1	25		67		tier1	no_errors	ENST00000398919	ensembl	human	known	74_37	silent	26.88		SNP	1.000	A	25	67
CLEC4C	170482	genome.wustl.edu	37	12	7894031	7894031	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7894031C>T	ENST00000542353.1	-	4	711	c.221G>A	c.(220-222)gGa>gAa	p.G74E	CLEC4C_ENST00000360345.3_Missense_Mutation_p.G74E|CLEC4C_ENST00000540085.1_Missense_Mutation_p.G43E|CLEC4C_ENST00000354629.5_Missense_Mutation_p.G43E	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	74					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TATGTCCTTTCCTTCCATGAC	0.408													ENSG00000198178																																					0													192.0	164.0	173.0					12																	7894031		2203	4300	6503	SO:0001583	missense	0			-	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.221G>A	12.37:g.7894031C>T	ENSP00000440428:p.Gly74Glu		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.G74E	ENST00000542353.1	37	c.221	CCDS8583.1	12	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704537	0.30232	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	1.61	1.61	0.23674	.	.	.	.	.	T	0.31167	0.0788	M	0.62723	1.935	0.09310	N	1	D;P	0.76494	0.999;0.828	D;B	0.83275	0.996;0.236	T	0.14755	-1.0461	9	0.20046	T	0.44	.	6.6803	0.23117	0.0:1.0:0.0:0.0	.	43;74	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	E	74;43;43;74	ENSP00000440428:G74E;ENSP00000346648:G43E;ENSP00000445338:G43E;ENSP00000353500:G74E	ENSP00000346648:G43E	G	-	2	0	CLEC4C	7785298	0.004000	0.15560	0.046000	0.18839	0.088000	0.18126	1.209000	0.32357	1.193000	0.43086	0.514000	0.50259	GGA	-	CLEC4C	-	NULL		0.408	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4C	HGNC	protein_coding	OTTHUMT00000399750.1	0	0		51	51		0.00		C	NM_203503		7894031	-1	7		45		tier1	no_errors	ENST00000360345	ensembl	human	known	74_37	missense	13.21		SNP	0.060	T	7	45
SI	6476	genome.wustl.edu	37	3	164760860	164760860	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:164760860G>A	ENST00000264382.3	-	17	2053	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	664	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATATCCGTCAGAATTATGGTT	0.358										HNSCC(35;0.089)			ENSG00000090402																																					0													87.0	88.0	88.0					3																	164760860		2203	4300	6503	SO:0001583	missense	0			-	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1991C>T	3.37:g.164760860G>A	ENSP00000264382:p.Ser664Phe		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.S664F	ENST00000264382.3	37	c.1991	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674719	0.29693	.	.	ENSG00000090402	ENST00000264382	D	0.91894	-2.93	5.87	0.559	0.17272	Glycoside hydrolase, superfamily (1);	0.106949	0.64402	D	0.000006	D	0.93158	0.7821	M	0.66439	2.03	0.20975	N	0.999811	P	0.48350	0.909	P	0.49528	0.614	D	0.88993	0.3416	10	0.87932	D	0	.	20.4714	0.99163	0.0:0.6642:0.3358:0.0	.	664	P14410	SUIS_HUMAN	F	664	ENSP00000264382:S664F	ENSP00000264382:S664F	S	-	2	0	SI	166243554	0.835000	0.29415	0.393000	0.26258	0.021000	0.10359	1.810000	0.38932	0.149000	0.19098	-0.165000	0.13383	TCT	-	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	0	0		99	99		0.00		G	NM_001041		164760860	-1	17		127		tier1	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	11.81		SNP	0.839	A	17	127
ILVBL	10994	genome.wustl.edu	37	19	15233758	15233758	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15233758C>T	ENST00000263383.3	-	5	688	c.549G>A	c.(547-549)cgG>cgA	p.R183R	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Silent_p.R76R	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	183						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GCACAATGTCCCGCACCCTCC	0.642													ENSG00000105135																																					0													64.0	66.0	65.0					19																	15233758		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.549G>A	19.37:g.15233758C>T			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.R183	ENST00000263383.3	37	c.549	CCDS12325.1	19																																																																																			-	ILVBL	-	pfam_Thiamin_PyroP_enz_TPP-bd_dom		0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	0	0		25	25		0.00		C	NM_006844		15233758	-1	20		22		tier1	no_errors	ENST00000263383	ensembl	human	known	74_37	silent	47.62		SNP	0.998	T	20	22
BCS1L	617	genome.wustl.edu	37	2	219526215	219526215	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219526215C>T	ENST00000431802.1	+	3	1106	c.407C>T	c.(406-408)aCc>aTc	p.T136I	BCS1L_ENST00000392110.2_Missense_Mutation_p.T136I|BCS1L_ENST00000392111.2_Missense_Mutation_p.T136I|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.T136I|BCS1L_ENST00000392109.1_Missense_Mutation_p.T136I|BCS1L_ENST00000359273.3_Missense_Mutation_p.T136I|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000439945.1_Missense_Mutation_p.T136I			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	136					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATCTGTCACCTTCACGGCC	0.532													ENSG00000074582																																					0													88.0	97.0	94.0					2																	219526215		2203	4300	6503	SO:0001583	missense	0			-	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.407C>T	2.37:g.219526215C>T	ENSP00000413908:p.Thr136Ile		B3KTW9|Q7Z2V7	Missense_Mutation	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T136I	ENST00000431802.1	37	c.407	CCDS2419.1	2	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926443	0.73327	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16;-4.16;-4.16;-4.16;-4.16;-4.16	5.33	5.33	0.75918	BCS1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.94142	3.5	0.80722	D	1	B	0.13594	0.008	B	0.20577	0.03	D	0.95533	0.8605	10	0.54805	T	0.06	-12.1318	19.2185	0.93788	0.0:1.0:0.0:0.0	.	136	Q9Y276	BCS1_HUMAN	I	136;136;16;136;136;136;136;136;136;136	ENSP00000398957:T136I;ENSP00000395440:T136I;ENSP00000412729:T16I;ENSP00000352219:T136I;ENSP00000375957:T136I;ENSP00000375958:T136I;ENSP00000375959:T136I;ENSP00000406494:T136I;ENSP00000404999:T136I;ENSP00000413908:T136I	ENSP00000352219:T136I	T	+	2	0	BCS1L	219234459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.939000	0.56591	2.774000	0.95407	0.650000	0.86243	ACC	-	BCS1L	-	pfam_BCS1_N		0.532	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	0	0		40	40		0.00		C	NM_004328		219526215	+1	20		54		tier1	no_errors	ENST00000359273	ensembl	human	known	74_37	missense	27.03		SNP	1.000	T	20	54
C3orf30	152405	genome.wustl.edu	37	3	118866202	118866202	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:118866202G>A	ENST00000295622.1	+	1	1206	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	389										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCTGACTACAGAGTACAACCC	0.448													ENSG00000163424																																					0													107.0	98.0	101.0					3																	118866202		2203	4300	6503	SO:0001583	missense	0			-	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1166G>A	3.37:g.118866202G>A	ENSP00000295622:p.Arg389Lys		A1L4B7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.R389K	ENST00000295622.1	37	c.1166	CCDS2984.1	3	.	.	.	.	.	.	.	.	.	.	G	8.392	0.839975	0.16891	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.16897	2.31	4.35	-0.685	0.11328	.	0.822724	0.10656	N	0.649247	T	0.10937	0.0267	L	0.44542	1.39	0.09310	N	1	P;B	0.37101	0.582;0.02	B;B	0.31686	0.134;0.02	T	0.20571	-1.0271	10	0.39692	T	0.17	-2.4601	4.1679	0.10315	0.2912:0.3329:0.3758:0.0	.	389;389	E9PFE5;Q96M34	.;CC030_HUMAN	K	389	ENSP00000295622:R389K	ENSP00000295622:R389K	R	+	2	0	C3orf30	120348892	0.008000	0.16893	0.000000	0.03702	0.037000	0.13140	0.201000	0.17276	-0.140000	0.11394	-0.176000	0.13171	AGA	-	C3orf30	-	NULL		0.448	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	0	0		60	60		0.00		G	NM_152539		118866202	+1	41		36		tier1	no_errors	ENST00000295622	ensembl	human	known	74_37	missense	53.25		SNP	0.000	A	41	36
CDK12	51755	genome.wustl.edu	37	17	37627629	37627629	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:37627629C>T	ENST00000447079.4	+	2	1577	c.1544C>T	c.(1543-1545)cCa>cTa	p.P515L	CDK12_ENST00000430627.2_Missense_Mutation_p.P515L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	515					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						ATTGTTACTCCAAAGGAGACA	0.473			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			ENSG00000167258																												Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													123.0	134.0	130.0					17																	37627629		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.1544C>T	17.37:g.37627629C>T	ENSP00000398880:p.Pro515Leu		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.P515L	ENST00000447079.4	37	c.1544	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694725	0.48202	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69685	-0.42;-0.42	5.99	3.97	0.46021	.	0.290281	0.24967	N	0.034166	T	0.51381	0.1671	N	0.24115	0.695	0.54753	D	0.999988	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.47849	-0.9085	10	0.72032	D	0.01	-0.6452	10.3061	0.43680	0.1356:0.7949:0.0:0.0695	.	514;515;515	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	L	515	ENSP00000407720:P515L;ENSP00000398880:P515L	ENSP00000407720:P515L	P	+	2	0	CDK12	34881155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.729000	0.54999	0.829000	0.34733	0.655000	0.94253	CCA	-	CDK12	-	NULL		0.473	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	0	0		68	68		0.00		C	NM_016507		37627629	+1	31		52		tier1	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	37.35		SNP	1.000	T	31	52
KIAA1217	56243	genome.wustl.edu	37	10	24833274	24833274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:24833274C>A	ENST00000376454.3	+	19	5105	c.5075C>A	c.(5074-5076)tCa>tAa	p.S1692*	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.S1375*|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1692					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTTGATACCTCATGTTCTTCC	0.473													ENSG00000120549																																					0													110.0	108.0	109.0					10																	24833274		2203	4300	6503	SO:0001587	stop_gained	0			-	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5075C>A	10.37:g.24833274C>A	ENSP00000365637:p.Ser1692*		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	pfam_AIP3_C	p.S1692*	ENST00000376454.3	37	c.5075	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.371984	0.98241	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000376451	.	.	.	4.98	4.07	0.47477	.	1.043970	0.07595	N	0.922626	.	.	.	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1885	0.37184	0.0:0.8385:0.0:0.1615	.	.	.	.	X	1375;1692;1375	.	ENSP00000365634:S1375X	S	+	2	0	KIAA1217	24873280	0.009000	0.17119	0.006000	0.13384	0.028000	0.11728	2.333000	0.43912	2.310000	0.77875	0.655000	0.94253	TCA	-	KIAA1217	-	NULL		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	0	0		45	45		0.00		C	NM_019590		24833274	+1	4		35		tier1	no_errors	ENST00000376454	ensembl	human	known	74_37	nonsense	10.26		SNP	0.011	A	4	35
PRB4	5545	genome.wustl.edu	37	12	11461601	11461601	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:11461601C>G	ENST00000535904.1	-	3	349	c.316G>C	c.(316-318)Gga>Cga	p.G106R	PRB4_ENST00000445719.2_Missense_Mutation_p.G106R|PRB4_ENST00000279575.1_Missense_Mutation_p.G106R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	127	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)		p.G106R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTTCCTCCTTGTGGGGGT	0.617										HNSCC(22;0.051)			ENSG00000230657																																					1	Substitution - Missense(1)	lung(1)											207.0	216.0	213.0					12																	11461601		2203	4299	6502	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.316G>C	12.37:g.11461601C>G	ENSP00000442834:p.Gly106Arg		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.G106R	ENST00000535904.1	37	c.316	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	0.203	-1.042912	0.01997	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.09350	2.99;2.99;2.99	0.769	-0.233	0.13078	.	.	.	.	.	T	0.12178	0.0296	M	0.78456	2.415	0.09310	N	1	B	0.23540	0.087	B	0.18263	0.021	T	0.30822	-0.9965	9	0.54805	T	0.06	.	3.1148	0.06371	0.0:0.6525:0.0:0.3475	.	106	E9PAL0	.	R	106	ENSP00000279575:G106R;ENSP00000442834:G106R;ENSP00000412740:G106R	ENSP00000279575:G106R	G	-	1	0	PRB4	11352868	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.256000	0.18351	-0.115000	0.11915	0.196000	0.17591	GGA	-	PRB4	-	NULL		0.617	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	0	0		98	98		0.00		C	NM_002723		11461601	-1	31		59		tier1	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	34.44		SNP	0.000	G	31	59
MUC16	94025	genome.wustl.edu	37	19	9063581	9063581	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9063581C>A	ENST00000397910.4	-	3	24068	c.23865G>T	c.(23863-23865)gaG>gaT	p.E7955D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7957	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						ATGATACATCCTCAGGACCCC	0.463													ENSG00000181143																																					0													130.0	122.0	125.0					19																	9063581		1977	4159	6136	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.23865G>T	19.37:g.9063581C>A	ENSP00000381008:p.Glu7955Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E7955D	ENST00000397910.4	37	c.23865	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	4.766	0.142456	0.09083	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	2.39	0.178	0.15058	.	.	.	.	.	T	0.15869	0.0382	L	0.38175	1.15	.	.	.	P	0.52061	0.95	B	0.39258	0.295	T	0.20907	-1.0261	8	0.87932	D	0	.	4.4817	0.11771	0.0:0.6569:0.0:0.3431	.	7955	B5ME49	.	D	7955	ENSP00000381008:E7955D	ENSP00000381008:E7955D	E	-	3	2	MUC16	8924581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.316000	0.02710	0.119000	0.18210	-0.490000	0.04691	GAG	-	MUC16	-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0		55	55		0.00		C	NM_024690		9063581	-1	24		43		tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	35.82		SNP	0.000	A	24	43
SIGLEC7	27036	genome.wustl.edu	37	19	51647686	51647686	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51647686C>T	ENST00000317643.6	+	2	526	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	153	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GCCCAACATCCTTATCCCCGG	0.612													ENSG00000168995																																					0													154.0	140.0	145.0					19																	51647686		2203	4300	6503	SO:0001583	missense	0			-	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.457C>T	19.37:g.51647686C>T	ENSP00000323328:p.Leu153Phe		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L153F	ENST00000317643.6	37	c.457	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	1.294	-0.606900	0.03717	.	.	ENSG00000168995	ENST00000317643	T	0.03524	3.9	2.9	-0.66	0.11421	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.844940	0.03306	N	0.189853	T	0.04679	0.0127	L	0.51914	1.62	0.09310	N	1	B	0.19073	0.033	B	0.32149	0.141	T	0.46359	-0.9197	10	0.10111	T	0.7	.	2.3762	0.04343	0.2396:0.4734:0.0:0.287	.	153	Q9Y286	SIGL7_HUMAN	F	153	ENSP00000323328:L153F	ENSP00000323328:L153F	L	+	1	0	SIGLEC7	56339498	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.232000	0.09055	0.109000	0.17891	-0.347000	0.07816	CTT	-	SIGLEC7	-	smart_Ig_sub,pfscan_Ig-like_dom		0.612	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	0	0		60	60		0.00		C	NM_016543		51647686	+1	12		57		tier1	no_errors	ENST00000317643	ensembl	human	known	74_37	missense	17.39		SNP	0.001	T	12	57
TRIM42	287015	genome.wustl.edu	37	3	140401663	140401663	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140401663G>A	ENST00000286349.3	+	2	892	c.701G>A	c.(700-702)gGg>gAg	p.G234E		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	234						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTCCTCCGGGCCCATCCTC	0.617													ENSG00000155890																																					0													72.0	72.0	72.0					3																	140401663		2203	4300	6503	SO:0001583	missense	0			-	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.701G>A	3.37:g.140401663G>A	ENSP00000286349:p.Gly234Glu		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.G234E	ENST00000286349.3	37	c.701	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096940	0.07010	.	.	ENSG00000155890	ENST00000286349	T	0.37915	1.17	5.2	4.31	0.51392	.	0.206985	0.34178	N	0.004196	T	0.21427	0.0516	L	0.38175	1.15	0.28597	N	0.909339	P	0.39216	0.664	B	0.30401	0.115	T	0.10042	-1.0647	10	0.13853	T	0.58	-33.3162	10.0525	0.42225	0.0961:0.0:0.9039:0.0	.	234	Q8IWZ5	TRI42_HUMAN	E	234	ENSP00000286349:G234E	ENSP00000286349:G234E	G	+	2	0	TRIM42	141884353	0.980000	0.34600	0.986000	0.45419	0.960000	0.62799	1.210000	0.32370	2.435000	0.82474	0.561000	0.74099	GGG	-	TRIM42	-	smart_Znf_B-box		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	0	0		67	67		0.00		G	NM_152616		140401663	+1	35		87		tier1	no_errors	ENST00000286349	ensembl	human	known	74_37	missense	28.69		SNP	0.623	A	35	87
DGCR8	54487	genome.wustl.edu	37	22	20077694	20077694	+	Missense_Mutation	SNP	G	G	A	rs200010909		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:20077694G>A	ENST00000351989.3	+	5	1648	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	DGCR8_ENST00000407755.1_Missense_Mutation_p.E407K|DGCR8_ENST00000383024.2_Missense_Mutation_p.E407K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	407	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCCCCCGGACGAGAAAGACCC	0.617													ENSG00000128191	G|||	1	0.000199681	0.0008	0.0	5008	,	,		15667	0.0		0.0	False		,,,				2504	0.0																0													45.0	54.0	51.0					22																	20077694		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1219G>A	22.37:g.20077694G>A	ENSP00000263209:p.Glu407Lys		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_dsR-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsR-bd_dom,pfscan_WW_dom,pfscan_dsR-bd_dom	p.E407K	ENST00000351989.3	37	c.1219	CCDS13773.1	22	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.15	1.552654	0.27739	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.31510	1.5;1.49;1.49	5.14	4.13	0.48395	.	0.215692	0.47852	D	0.000212	T	0.14614	0.0353	N	0.22421	0.69	0.45390	D	0.998376	B;P	0.43352	0.022;0.804	B;B	0.22753	0.008;0.041	T	0.08269	-1.0730	10	0.17369	T	0.5	-16.6526	13.6158	0.62108	0.0756:0.0:0.9244:0.0	.	407;407	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	407	ENSP00000263209:E407K;ENSP00000372488:E407K;ENSP00000384726:E407K	ENSP00000263209:E407K	E	+	1	0	DGCR8	18457694	1.000000	0.71417	0.998000	0.56505	0.297000	0.27493	5.726000	0.68515	1.390000	0.46547	0.467000	0.42956	GAG	rs200010909	DGCR8	-	NULL		0.617	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	0	0		56	56		0.00		G			20077694	+1	18		48		tier1	no_errors	ENST00000351989	ensembl	human	known	74_37	missense	27.27		SNP	1.000	A	18	48
EPG5	57724	genome.wustl.edu	37	18	43497657	43497657	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:43497657G>A	ENST00000282041.5	-	17	3260	c.3226C>T	c.(3226-3228)Ctg>Ttg	p.L1076L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1076					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCATTCTTCAGAAGGTAATAC	0.403													ENSG00000152223																																					0													170.0	158.0	162.0					18																	43497657		1872	4114	5986	SO:0001819	synonymous_variant	0			-	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3226C>T	18.37:g.43497657G>A			A2BDF3|Q9H8C8	Silent	SNP	NULL	p.L1076	ENST00000282041.5	37	c.3226	CCDS11926.2	18																																																																																			-	EPG5	-	NULL		0.403	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	0	0		55	55		0.00		G	NM_020964		43497657	-1	20		29		tier1	no_errors	ENST00000282041	ensembl	human	known	74_37	silent	40.00		SNP	1.000	A	20	29
ZNF90	7643	genome.wustl.edu	37	19	20236176	20236176	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:20236176C>T	ENST00000474284.1	+	0	600				CTC-260E6.6_ENST00000590606.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA			Q03938	ZNF90_HUMAN	zinc finger protein 90						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						AGAAGGAGATCAAAGACATCC	0.532													ENSG00000213988																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000474284.1:c.*597C>T	19.37:g.20236176C>T			B9EH87	R	SNP	-	NULL	ENST00000474284.1	37	NULL		19																																																																																			-	ZNF90	-	-		0.532	ZNF90-003	KNOWN	basic	processed_transcript	ZNF90	HGNC	protein_coding	OTTHUMT00000350103.2	0	0		49	49		0.00		C	NM_007138		20236176	+1	9		39		tier1	no_errors	ENST00000474284	ensembl	human	known	74_37	rna	18.75		SNP	1.000	T	9	39
MAB21L1	4081	genome.wustl.edu	37	13	36049199	36049199	+	Silent	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:36049199A>T	ENST00000379919.4	-	1	1633	c.1077T>A	c.(1075-1077)ctT>ctA	p.L359L	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	359					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCATCCTCTAAAGTTTTTCCA	0.418													ENSG00000180660																																					0													64.0	70.0	68.0					13																	36049199		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.1077T>A	13.37:g.36049199A>T			Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.L359	ENST00000379919.4	37	c.1077	CCDS9353.1	13																																																																																			-	MAB21L1	-	pfam_Mab-21_dom		0.418	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	0	0		54	54		0.00		A	NM_005584		36049199	-1	11		35		tier1	no_errors	ENST00000379919	ensembl	human	known	74_37	silent	23.91		SNP	1.000	T	11	35
PTBP2	58155	genome.wustl.edu	37	1	97187323	97187323	+	5'Flank	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:97187323A>C	ENST00000426398.2	+	0	0				PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_5'Flank|PTBP2_ENST00000370197.1_5'Flank|PTBP2_ENST00000394184.3_5'Flank|PTBP2_ENST00000609116.1_5'Flank|PTBP2_ENST00000541987.1_5'Flank	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2						mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CACCTTCGGCAATTTCCGTCG	0.726													ENSG00000117569																																					0																																										SO:0001631	upstream_gene_variant	0			-	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685		1.37:g.97187323A>C	Exception_encountered		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	R	SNP	-	NULL	ENST00000426398.2	37	NULL	CCDS754.1	1																																																																																			-	PTBP2	-	-		0.726	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	0	0		44	44		0.00		A			97187323	+1	23		59		tier1	no_errors	ENST00000482253	ensembl	human	known	74_37	rna	28.05		SNP	1.000	C	23	59
FAM230C	26080	genome.wustl.edu	37	22	21663623	21663623	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21663623G>A	ENST00000436681.1	-	0	547																											CCTCGCTGGCGATTCCGTGGG	0.746													ENSG00000206142																																					0																																												0			-																													22.37:g.21663623G>A				R	SNP	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			-	KB-1183D5.13	-	-		0.746	KB-1183D5.13-003	KNOWN	basic	lincRNA	FAM230C	Clone_based_vega_gene	lincRNA	OTTHUMT00000320109.1	0	0		66	66		0.00		G			21663623	-1	15		89		tier1	no_errors	ENST00000436681	ensembl	human	known	74_37	rna	14.42		SNP	0.694	A	15	89
PPP4R1L	55370	genome.wustl.edu	37	20	56821143	56821143	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:56821143G>A	ENST00000334187.8	-	10	1132	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	PPP4R1L_ENST00000462333.1_5'Flank|PPP4R1L_ENST00000244070.3_Silent_p.S344S			Q9P1A2	PP4RL_HUMAN	protein phosphatase 4, regulatory subunit 1-like	373																	TGGTCTCTGGGGAAACCCTGG	0.587													ENSG00000124224																																					0																																										SO:0001819	synonymous_variant	0			-	AF119843		20q13.32	2013-03-28			ENSG00000124224	ENSG00000124224			15755	other	unknown				C20orf192		14702039, 11780052	Standard	NR_003505		Approved	bA196N14.4, bA196N14.5	uc002xyy.1	Q9P1A2	OTTHUMG00000032838	ENST00000334187.8:c.1119C>T	20.37:g.56821143G>A			B4DRM4|Q96LY6|Q9BZ17|Q9BZ18	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S373	ENST00000334187.8	37	c.1119		20																																																																																			-	PPP4R1L	-	NULL		0.587	PPP4R1L-201	KNOWN	basic|appris_candidate_longest	protein_coding	PPP4R1L	HGNC	protein_coding		0	0		44	44		0.00		G	NR_003505		56821143	-1	9		68		tier1	no_errors	ENST00000334187	ensembl	human	known	74_37	silent	11.69		SNP	0.000	A	9	68
GCNT3	9245	genome.wustl.edu	37	15	59911478	59911478	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:59911478C>T	ENST00000396065.1	+	3	1489	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	GCNT3_ENST00000560585.1_Silent_p.P347P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	347					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTCTGTTCCCAACCACCCCA	0.522													ENSG00000140297																																					0													129.0	115.0	119.0					15																	59911478		2190	4290	6480	SO:0001819	synonymous_variant	0			-	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1041C>T	15.37:g.59911478C>T				Silent	SNP	pfam_Glyco_trans_14	p.P347	ENST00000396065.1	37	c.1041	CCDS10172.1	15																																																																																			-	GCNT3	-	pfam_Glyco_trans_14		0.522	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	0	0		39	39		0.00		C	NM_004751		59911478	+1	20		22		tier1	no_errors	ENST00000396065	ensembl	human	known	74_37	silent	47.62		SNP	0.012	T	20	22
SLC9B1	150159	genome.wustl.edu	37	4	103822399	103822399	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:103822399A>T	ENST00000296422.7	-	12	1564	c.1423T>A	c.(1423-1425)Tta>Ata	p.L475I	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	475					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAGATGGCTAAAAATGCTACT	0.458													ENSG00000164037																																					0													91.0	93.0	92.0					4																	103822399		2117	4135	6252	SO:0001583	missense	0			-	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1423T>A	4.37:g.103822399A>T	ENSP00000296422:p.Leu475Ile		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.L475I	ENST00000296422.7	37	c.1423	CCDS34041.1	4	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049747	0.55218	.	.	ENSG00000164037	ENST00000296422	T	0.15139	2.45	3.91	-4.9	0.03094	.	0.220594	0.31685	N	0.007228	T	0.33030	0.0849	.	.	.	0.26105	N	0.980763	D	0.65815	0.995	D	0.76575	0.988	T	0.13229	-1.0517	9	0.40728	T	0.16	-8.4575	15.2776	0.73753	0.2146:0.0:0.7854:0.0	.	475	Q4ZJI4	SL9B1_HUMAN	I	475	ENSP00000296422:L475I	ENSP00000296422:L475I	L	-	1	2	SLC9B1	104041848	0.963000	0.33076	0.063000	0.19743	0.951000	0.60555	0.132000	0.15891	-0.888000	0.03956	-0.604000	0.04097	TTA	-	SLC9B1	-	pfam_Cation/H_exchanger		0.458	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B1	HGNC	protein_coding	OTTHUMT00000363841.1	1	1		514	514		0.19		A	NM_139173		103822399	-1	69		693		tier1	no_errors	ENST00000296422	ensembl	human	known	74_37	missense	9.04		SNP	0.460	T	69	693
MAN1A1	4121	genome.wustl.edu	37	6	119522419	119522419	+	Splice_Site	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:119522419G>C	ENST00000368468.3	-	8	1651	c.1210C>G	c.(1210-1212)Cat>Gat	p.H404D		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	404					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)		TCTGACTTACGTTGACCCCAC	0.383													ENSG00000111885																									Ovarian(136;8 1825 12608 33541 47587)												0													165.0	161.0	162.0					6																	119522419		2203	4300	6503	SO:0001630	splice_region_variant	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.1210+1C>G	6.37:g.119522419G>C			E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.H404D	ENST00000368468.3	37	c.1210	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737728	0.69304	.	.	ENSG00000111885	ENST00000368468	T	0.70986	-0.53	5.53	3.6	0.41247	.	0.104630	0.64402	D	0.000003	T	0.47192	0.1432	N	0.25286	0.73	0.80722	D	1	B	0.34181	0.44	P	0.47528	0.549	T	0.45205	-0.9277	9	.	.	.	-13.2956	6.0928	0.20003	0.1103:0.0:0.6991:0.1906	.	404	P33908	MA1A1_HUMAN	D	404	ENSP00000357453:H404D	.	H	-	1	0	MAN1A1	119564118	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.525000	0.81892	0.671000	0.31185	0.591000	0.81541	CAT	-	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.383	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	0	0		71	71		0.00		G	NM_005907	Missense_Mutation	119522419	-1	32		37		tier1	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	46.38		SNP	1.000	C	32	37
ZNF541	84215	genome.wustl.edu	37	19	48048924	48048924	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:48048924G>A	ENST00000391901.3	-	3	861	c.862C>T	c.(862-864)Cct>Tct	p.P288S	ZNF541_ENST00000314121.4_Missense_Mutation_p.P288S|ZNF541_ENST00000448976.1_Missense_Mutation_p.P288S			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	288					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						CCAGGAGAAGGGGTCTTCTGG	0.716													ENSG00000118156																																					0													15.0	20.0	18.0					19																	48048924		691	1591	2282	SO:0001583	missense	0			-	AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.862C>T	19.37:g.48048924G>A	ENSP00000375770:p.Pro288Ser		Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.P288S	ENST00000391901.3	37	c.862		19	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970897	0.34754	.	.	ENSG00000118156	ENST00000391901;ENST00000314121;ENST00000448976	T;T;T	0.17370	2.35;2.3;2.28	5.03	3.98	0.46160	.	.	.	.	.	T	0.11922	0.0290	L	0.27053	0.805	0.09310	N	1	B;P;B	0.36199	0.016;0.543;0.301	B;B;B	0.38156	0.008;0.266;0.057	T	0.21552	-1.0242	9	0.21540	T	0.41	-11.2536	6.9175	0.24367	0.0917:0.1783:0.7299:0.0	.	288;288;288	Q9H0D2;Q9H0D2-2;Q9H0D2-3	ZN541_HUMAN;.;.	S	288	ENSP00000375770:P288S;ENSP00000313258:P288S;ENSP00000410847:P288S	ENSP00000313258:P288S	P	-	1	0	ZNF541	52740736	0.995000	0.38212	0.327000	0.25402	0.898000	0.52572	3.432000	0.52824	1.332000	0.45431	0.561000	0.74099	CCT	-	ZNF541	-	NULL		0.716	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	0	0		29	29		0.00		G	NM_032255		48048924	-1	9		27		tier1	no_errors	ENST00000314121	ensembl	human	known	74_37	missense	25.00		SNP	0.228	A	9	27
SPTBN1	6711	genome.wustl.edu	37	2	54856752	54856752	+	Silent	SNP	C	C	T	rs369223422		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:54856752C>T	ENST00000356805.4	+	14	2762	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	SPTBN1_ENST00000333896.5_Silent_p.I814I	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	827					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGTCGGGCATCGAGGAGCGGT	0.632													ENSG00000115306																																					0								C	,	0,4406		0,0,2203	42.0	43.0	43.0		2481,2442	-1.0	1.0	2		43	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SPTBN1	NM_003128.2,NM_178313.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	827/2365,814/2156	54856752	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2481C>T	2.37:g.54856752C>T			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.I827	ENST00000356805.4	37	c.2481	CCDS33198.1	2																																																																																			-	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.632	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	0	0		20	20		0.00		C			54856752	+1	16		24		tier1	no_errors	ENST00000356805	ensembl	human	known	74_37	silent	39.02		SNP	0.681	T	16	24
PACSIN1	29993	genome.wustl.edu	37	6	34496562	34496562	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:34496562C>T	ENST00000538621.1	+	4	609	c.364C>T	c.(364-366)Cac>Tac	p.H122Y	PACSIN1_ENST00000244458.2_Missense_Mutation_p.H122Y|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Missense_Mutation_p.H80Y	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	122	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGACGCCTATCACAAGCAGAT	0.552													ENSG00000124507																																					0													174.0	156.0	162.0					6																	34496562		2203	4300	6503	SO:0001583	missense	0			-	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.364C>T	6.37:g.34496562C>T	ENSP00000439639:p.His122Tyr		Q9P2G8	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.H122Y	ENST00000538621.1	37	c.364	CCDS4793.1	6	.	.	.	.	.	.	.	.	.	.	c	22.6	4.315431	0.81358	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.57907	0.52;0.37;0.52	4.05	4.05	0.47172	.	0.106402	0.64402	D	0.000005	T	0.70954	0.3283	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.77920	-0.2407	10	0.72032	D	0.01	-9.9654	16.4007	0.83640	0.0:1.0:0.0:0.0	.	122	Q9BY11	PACN1_HUMAN	Y	122;80;122;122	ENSP00000244458:H122Y;ENSP00000363155:H80Y;ENSP00000439639:H122Y	ENSP00000244458:H122Y	H	+	1	0	PACSIN1	34604540	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.642000	0.83385	2.253000	0.74438	0.450000	0.29827	CAC	-	PACSIN1	-	NULL		0.552	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN1	HGNC	protein_coding	OTTHUMT00000040236.1	0	0		46	46		0.00		C			34496562	+1	9		58		tier1	no_errors	ENST00000244458	ensembl	human	known	74_37	missense	13.43		SNP	1.000	T	9	58
TXNRD2	10587	genome.wustl.edu	37	22	19907071	19907071	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:19907071G>A	ENST00000400521.1	-	3	230	c.224C>T	c.(223-225)cCc>cTc	p.P75L	TXNRD2_ENST00000400518.1_Missense_Mutation_p.P45L|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000334363.9_Missense_Mutation_p.P75L|TXNRD2_ENST00000535882.1_Missense_Mutation_p.P74L|TXNRD2_ENST00000542719.1_Missense_Mutation_p.P45L|TXNRD2_ENST00000400519.1_Missense_Mutation_p.P74L	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	75					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCTACCTTGGGGAGAAGGTTC	0.627													ENSG00000184470																																					0													25.0	29.0	28.0					22																	19907071		2058	4180	6238	SO:0001583	missense	0			-	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.224C>T	22.37:g.19907071G>A	ENSP00000383365:p.Pro75Leu		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/D-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.P74L	ENST00000400521.1	37	c.221	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788835	0.49997	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.69561	-0.41;-0.33;-0.18;-0.32;-0.32;-0.41;1.07	3.96	2.94	0.34122	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.303220	0.32244	N	0.006377	T	0.63674	0.2531	M	0.67517	2.055	0.58432	D	0.999999	B;B;B;B	0.22276	0.041;0.067;0.055;0.041	B;B;B;B	0.25614	0.062;0.062;0.05;0.062	T	0.66528	-0.5901	10	0.72032	D	0.01	-0.5704	11.1772	0.48606	0.0946:0.0:0.9054:0.0	.	75;75;43;74	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	L	45;75;75;52;74;74;45;75	ENSP00000383362:P45L;ENSP00000383365:P75L;ENSP00000383369:P52L;ENSP00000383363:P74L;ENSP00000439314:P74L;ENSP00000439570:P45L;ENSP00000334451:P75L	ENSP00000334451:P75L	P	-	2	0	TXNRD2	18287071	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	5.456000	0.66665	1.247000	0.43917	0.557000	0.71058	CCC	-	TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	0	0		81	81		0.00		G	NM_006440		19907071	-1	41		82		tier1	no_errors	ENST00000535882	ensembl	human	known	74_37	missense	33.33		SNP	0.997	A	41	82
ITIH5	80760	genome.wustl.edu	37	10	7684050	7684050	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:7684050T>C	ENST00000256861.6	-	3	217	c.139A>G	c.(139-141)Acc>Gcc	p.T47A	ITIH5_ENST00000397145.2_Missense_Mutation_p.T47A|ITIH5_ENST00000397146.2_Missense_Mutation_p.T47A|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	47	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AAAGGTTTGGTTTTCTGTAGG	0.393													ENSG00000123243																																					0													92.0	90.0	91.0					10																	7684050		2203	4300	6503	SO:0001583	missense	0			-			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.139A>G	10.37:g.7684050T>C	ENSP00000256861:p.Thr47Ala		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T47A	ENST00000256861.6	37	c.139		10	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530947	0.27387	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.02631	4.79;4.22;4.22	5.71	1.75	0.24633	Vault protein inter-alpha-trypsin (1);	0.806297	0.11935	N	0.515289	T	0.03178	0.0093	.	.	.	0.39425	D	0.966989	B;B	0.25272	0.122;0.032	B;B	0.30572	0.117;0.063	T	0.44605	-0.9317	9	0.46703	T	0.11	-27.3919	5.9093	0.19018	0.0:0.169:0.1348:0.6962	.	47;47	G5E9D8;Q86UX2	.;ITIH5_HUMAN	A	47	ENSP00000256861:T47A;ENSP00000380333:T47A;ENSP00000380332:T47A	ENSP00000256861:T47A	T	-	1	0	ITIH5	7724056	1.000000	0.71417	0.998000	0.56505	0.389000	0.30415	1.993000	0.40747	0.035000	0.15519	0.379000	0.24179	ACC	-	ITIH5	-	smart_VIT		0.393	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	0	0		115	115		0.00		T	NM_030569		7684050	-1	54		96		tier1	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	35.76		SNP	1.000	C	54	96
OR6C68	403284	genome.wustl.edu	37	12	55886840	55886840	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55886840C>T	ENST00000548615.1	+	1	679	c.679C>T	c.(679-681)Cct>Tct	p.P227S	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.P232S	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	227						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(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCTAAAATTCCCTTCTGTTCA	0.363													ENSG00000205327																																					0													82.0	77.0	79.0					12																	55886840		2203	4300	6503	SO:0001583	missense	0			-		CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.679C>T	12.37:g.55886840C>T	ENSP00000448811:p.Pro227Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P232S	ENST00000548615.1	37	c.694	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922996	0.73213	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.36878	1.23;1.23	5.3	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.140381	0.32819	N	0.005608	T	0.51753	0.1693	M	0.65677	2.01	0.09310	N	1	D	0.59357	0.985	P	0.59948	0.866	T	0.45205	-0.9277	10	0.59425	D	0.04	.	11.6704	0.51396	0.0:0.8532:0.0:0.1468	.	227	A6NDL8	O6C68_HUMAN	S	232;227	ENSP00000368983:P232S;ENSP00000448811:P227S	ENSP00000368983:P232S	P	+	1	0	OR6C68	54173107	0.000000	0.05858	0.146000	0.22360	0.652000	0.38707	0.307000	0.19296	0.738000	0.32606	0.603000	0.83216	CCT	-	OR6C68	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.363	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	0	0		41	41		0.00		C			55886840	+1	7		26		tier1	no_errors	ENST00000379662	ensembl	human	known	74_37	missense	21.21		SNP	0.051	T	7	26
THSD7A	221981	genome.wustl.edu	37	7	11676079	11676079	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:11676079T>C	ENST00000423059.4	-	2	951	c.700A>G	c.(700-702)Aac>Gac	p.N234D	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	234	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCGTCAGGTTTGGACAGCCA	0.652										HNSCC(18;0.044)			ENSG00000005108																																					0													31.0	31.0	31.0					7																	11676079		2053	4205	6258	SO:0001583	missense	0			-		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.700A>G	7.37:g.11676079T>C	ENSP00000406482:p.Asn234Asp			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.N234D	ENST00000423059.4	37	c.700	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799183	0.70567	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.50548	0.74	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	L	0.28608	0.87	0.80722	D	1	D	0.56287	0.975	P	0.58391	0.838	T	0.36016	-0.9765	10	0.12430	T	0.62	.	16.1251	0.81386	0.0:0.0:0.0:1.0	.	234	Q9UPZ6	THS7A_HUMAN	D	234	ENSP00000406482:N234D	ENSP00000262042:N234D	N	-	1	0	THSD7A	11642604	1.000000	0.71417	0.931000	0.37212	0.391000	0.30476	6.231000	0.72307	2.267000	0.75376	0.477000	0.44152	AAC	-	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.652	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	0	0		25	25		0.00		T	XM_928187.2		11676079	-1	10		27		tier1	no_errors	ENST00000423059	ensembl	human	known	74_37	missense	27.03		SNP	0.999	C	10	27
OR52B6	340980	genome.wustl.edu	37	11	5603071	5603071	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5603071G>T	ENST00000345043.2	+	1	965	c.965G>T	c.(964-966)gGg>gTg	p.G322V	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	322						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)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACTGGAAGGGGCTAAGCAG	0.418													ENSG00000187747																																					0													166.0	148.0	154.0					11																	5603071		1899	4117	6016	SO:0001583	missense	0			-	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.965G>T	11.37:g.5603071G>T	ENSP00000341581:p.Gly322Val		Q6IFI7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G322V	ENST00000345043.2	37	c.965	CCDS41611.1	11	.	.	.	.	.	.	.	.	.	.	G	8.382	0.837724	0.16891	.	.	ENSG00000187747	ENST00000345043	T	0.36699	1.24	4.19	3.28	0.37604	.	0.397160	0.18328	U	0.144585	T	0.22003	0.0530	N	0.21097	0.63	0.42764	D	0.993815	B	0.31931	0.347	B	0.26202	0.067	T	0.06110	-1.0845	10	0.44086	T	0.13	.	9.2812	0.37729	0.1067:0.0:0.8933:0.0	.	322	Q8NGF0	O52B6_HUMAN	V	322	ENSP00000341581:G322V	ENSP00000341581:G322V	G	+	2	0	OR52B6	5559647	1.000000	0.71417	0.949000	0.38748	0.042000	0.13812	1.733000	0.38156	0.992000	0.38840	0.579000	0.79373	GGG	-	OR52B6	-	NULL		0.418	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B6	HGNC	protein_coding	OTTHUMT00000143397.1	0	0		96	96		0.00		G	NM_001005162		5603071	+1	27		45		tier1	no_errors	ENST00000345043	ensembl	human	known	74_37	missense	36.99		SNP	0.818	T	27	45
CDH17	1015	genome.wustl.edu	37	8	95164118	95164118	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:95164118C>T	ENST00000027335.3	-	13	1898	c.1774G>A	c.(1774-1776)Gat>Aat	p.D592N	CDH17_ENST00000441892.2_Missense_Mutation_p.D378N|CDH17_ENST00000450165.2_Missense_Mutation_p.D592N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	592	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTTCTGGATCCTTGGCAGTC	0.527													ENSG00000079112																																					0													164.0	119.0	134.0					8																	95164118		2203	4300	6503	SO:0001583	missense	0			-	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1774G>A	8.37:g.95164118C>T	ENSP00000027335:p.Asp592Asn		Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D592N	ENST00000027335.3	37	c.1774	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.178112	0.94846	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.74526	-0.85;-0.85;-0.85	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000017	D	0.91379	0.7280	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93736	0.7046	10	0.87932	D	0	-31.1631	17.1582	0.86797	0.0:1.0:0.0:0.0	.	378;592	E7EN24;Q12864	.;CAD17_HUMAN	N	592;378;592	ENSP00000027335:D592N;ENSP00000392811:D378N;ENSP00000401468:D592N	ENSP00000027335:D592N	D	-	1	0	CDH17	95233294	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.331000	0.65905	2.865000	0.98341	0.655000	0.94253	GAT	-	CDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	0	0		51	51		0.00		C	NM_004063		95164118	-1	17		44		tier1	no_errors	ENST00000027335	ensembl	human	known	74_37	missense	27.87		SNP	1.000	T	17	44
XKRX	402415	genome.wustl.edu	37	X	100177793	100177793	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:100177793G>A	ENST00000372956.2	-	2	1197	c.593C>T	c.(592-594)cCc>cTc	p.P198L	XKRX_ENST00000328526.5_Missense_Mutation_p.P211L|XKRX_ENST00000468904.1_Intron			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCTACCCAGGGGAACCTCTGC	0.537													ENSG00000182489																																					0													61.0	49.0	53.0					X																	100177793		2203	4300	6503	SO:0001583	missense	0			-	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.593C>T	X.37:g.100177793G>A	ENSP00000362047:p.Pro198Leu		B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.P211L	ENST00000372956.2	37	c.632	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424202	0.25639	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.62639	0.01;0.01	5.9	4.15	0.48705	.	0.269632	0.44097	D	0.000493	T	0.53400	0.1794	L	0.49350	1.555	0.51233	D	0.999914	B	0.10296	0.003	B	0.10450	0.005	T	0.42548	-0.9445	10	0.21540	T	0.41	-2.7645	11.1991	0.48730	0.1394:0.0:0.8606:0.0	.	198	Q6PP77	XKR2_HUMAN	L	211;198	ENSP00000327570:P211L;ENSP00000362047:P198L	ENSP00000327570:P211L	P	-	2	0	XKRX	100064449	0.992000	0.36948	0.990000	0.47175	0.788000	0.44548	3.471000	0.53107	0.638000	0.30545	0.600000	0.82982	CCC	-	XKRX	-	pfam_Transport_prot_XK		0.537	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	HGNC	protein_coding	OTTHUMT00000057501.3	0	0		32	32		0.00		G	NM_212559		100177793	-1	35		16		tier1	no_errors	ENST00000328526	ensembl	human	known	74_37	missense	68.63		SNP	0.633	A	35	16
PLA2R1	22925	genome.wustl.edu	37	2	160811815	160811815	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:160811815G>A	ENST00000283243.7	-	23	3402	c.3196C>T	c.(3196-3198)Ctc>Ttc	p.L1066F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.L1066F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1066	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAGGCACAGAGAGGAATGTGT	0.313													ENSG00000153246																																					0													115.0	111.0	112.0					2																	160811815		2203	4300	6503	SO:0001583	missense	0			-	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3196C>T	2.37:g.160811815G>A	ENSP00000283243:p.Leu1066Phe		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.L1066F	ENST00000283243.7	37	c.3196	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714917	0.68844	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.54866	0.55;0.55	5.85	4.98	0.66077	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.187045	0.37012	N	0.002282	T	0.60869	0.2302	L	0.50919	1.6	0.45580	D	0.998522	P;D;D	0.58620	0.752;0.983;0.978	P;D;D	0.64776	0.756;0.929;0.913	T	0.56823	-0.7915	10	0.10636	T	0.68	.	12.9063	0.58154	0.0755:0.0:0.9245:0.0	.	1066;1066;1066	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	F	1066	ENSP00000283243:L1066F;ENSP00000376524:L1066F	ENSP00000283243:L1066F	L	-	1	0	PLA2R1	160520061	0.987000	0.35691	0.998000	0.56505	0.922000	0.55478	2.344000	0.44010	1.486000	0.48398	0.655000	0.94253	CTC	-	PLA2R1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.313	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	0	0		116	116		0.00		G			160811815	-1	15		79		tier1	no_errors	ENST00000283243	ensembl	human	known	74_37	missense	15.79		SNP	1.000	A	15	79
TRAF1	7185	genome.wustl.edu	37	9	123667463	123667463	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:123667463G>A	ENST00000373887.3	-	8	3531	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	TRAF1_ENST00000546084.1_Silent_p.F240F|TRAF1_ENST00000540010.1_Silent_p.F362F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	362	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GGTCAGGCCGGAAGGCGTCAA	0.602													ENSG00000056558																																					0													97.0	68.0	78.0					9																	123667463		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.1086C>T	9.37:g.123667463G>A			B4DJ77|Q658U1|Q8NF13	Silent	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	p.F362	ENST00000373887.3	37	c.1086	CCDS6825.1	9																																																																																			-	TRAF1	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.602	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF1	HGNC	protein_coding	OTTHUMT00000053843.1	0	0		29	29		0.00		G	NM_005658		123667463	-1	18		42		tier1	no_errors	ENST00000373887	ensembl	human	known	74_37	silent	30.00		SNP	1.000	A	18	42
FAM83G	644815	genome.wustl.edu	37	17	18874838	18874838	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:18874838G>A	ENST00000388995.6	-	6	2529	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L	FAM83G_ENST00000345041.4_Missense_Mutation_p.P769L|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P769L|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	769					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATCGGTCATGGGGCGGGCATT	0.652													ENSG00000188522																																					0													82.0	92.0	89.0					17																	18874838		1982	4143	6125	SO:0001583	missense	0			-	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2306C>T	17.37:g.18874838G>A	ENSP00000373647:p.Pro769Leu		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.P769L	ENST00000388995.6	37	c.2306	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	2.422	-0.332770	0.05314	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12465	2.68;2.68	5.03	2.77	0.32553	.	0.771909	0.11352	N	0.572881	T	0.09069	0.0224	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31971	-0.9924	10	0.27785	T	0.31	-2.3855	7.9442	0.29976	0.1029:0.1625:0.7346:0.0	.	769	A6ND36	FA83G_HUMAN	L	769	ENSP00000373647:P769L;ENSP00000343279:P769L	ENSP00000343279:P769L	P	-	2	0	FAM83G	18815563	0.171000	0.23029	0.001000	0.08648	0.017000	0.09413	1.636000	0.37144	1.083000	0.41159	0.561000	0.74099	CCC	-	FAM83G	-	NULL		0.652	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	0	0		72	72		0.00		G			18874838	-1	59		111		tier1	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	34.71		SNP	0.001	A	59	111
SIGLEC7	27036	genome.wustl.edu	37	19	51647685	51647685	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51647685C>T	ENST00000317643.6	+	2	525	c.456C>T	c.(454-456)atC>atT	p.I152I	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	152	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGCCCAACATCCTTATCCCCG	0.607													ENSG00000168995																																					0													155.0	141.0	145.0					19																	51647685		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.456C>T	19.37:g.51647685C>T			Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I152	ENST00000317643.6	37	c.456	CCDS12826.1	19																																																																																			-	SIGLEC7	-	pfscan_Ig-like_dom		0.607	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	HGNC	protein_coding	OTTHUMT00000464226.2	0	0		60	60		0.00		C	NM_016543		51647685	+1	12		57		tier1	no_errors	ENST00000317643	ensembl	human	known	74_37	silent	17.39		SNP	0.004	T	12	57
LAMC3	10319	genome.wustl.edu	37	9	133927960	133927960	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:133927960C>T	ENST00000361069.4	+	10	1846	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	571	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACTCCCCACTCCCTGTACAGC	0.632											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000050555																																					0													45.0	51.0	49.0					9																	133927960		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1713C>T	9.37:g.133927960C>T		1606	B1APX9|B1APY0|Q59H72	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L571	ENST00000361069.4	37	c.1713	CCDS6938.1	9																																																																																			-	LAMC3	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	0	0		71	71		0.00		C	NM_006059		133927960	+1	27		59		tier1	no_errors	ENST00000361069	ensembl	human	known	74_37	silent	31.40		SNP	0.000	T	27	59
CHRNG	1146	genome.wustl.edu	37	2	233410307	233410307	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233410307G>A	ENST00000389494.3	+	12	1456	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	CHRNG_ENST00000389492.3_Missense_Mutation_p.A427T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	479					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CTGCTTCCTGGCCATGCTCTC	0.642													ENSG00000196811																																					0													120.0	90.0	100.0					2																	233410307		2203	4300	6503	SO:0001583	missense	0			-	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1435G>A	2.37:g.233410307G>A	ENSP00000374145:p.Ala479Thr		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.A479T	ENST00000389494.3	37	c.1435	CCDS33400.1	2	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799542	0.70567	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.85556	-2.0;-2.0	4.53	4.53	0.55603	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.185258	0.38058	N	0.001821	T	0.79197	0.4405	L	0.33189	0.99	0.35000	D	0.755874	P;B	0.37207	0.587;0.277	B;B	0.41174	0.287;0.349	D	0.84655	0.0703	10	0.66056	D	0.02	.	8.8768	0.35350	0.1437:0.0:0.8563:0.0	.	427;479	Q14DU4;P07510	.;ACHG_HUMAN	T	479;479;427	ENSP00000374145:A479T;ENSP00000374143:A427T	ENSP00000374143:A427T	A	+	1	0	CHRNG	233118551	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.213000	0.58520	2.045000	0.60652	0.462000	0.41574	GCC	-	CHRNG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.642	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	0	0		31	31		0.00		G	NM_005199		233410307	+1	7		41		tier1	no_errors	ENST00000389494	ensembl	human	known	74_37	missense	14.29		SNP	1.000	A	7	41
PCDHGB3	56102	genome.wustl.edu	37	5	140750451	140750451	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140750451G>A	ENST00000576222.1	+	1	621	c.490G>A	c.(490-492)Gtc>Atc	p.V164I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	164	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGTAGGTGTCAATTCGCT	0.502													ENSG00000262209																																					0													213.0	210.0	211.0					5																	140750451		2041	4185	6226	SO:0001583	missense	0			-	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.490G>A	5.37:g.140750451G>A	ENSP00000461862:p.Val164Ile		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V164I	ENST00000576222.1	37	c.490	CCDS58980.1	5																																																																																			-	PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	0	0		50	50		0.00		G	NM_018924		140750451	+1	26		52		tier1	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	33.33		SNP	0.000	A	26	52
PHF13	148479	genome.wustl.edu	37	1	6680241	6680241	+	Missense_Mutation	SNP	G	G	A	rs149667501		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:6680241G>A	ENST00000377648.4	+	3	902	c.520G>A	c.(520-522)Gat>Aat	p.D174N	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	174					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGGACTCCGATACTCCCTC	0.587													ENSG00000116273																																					0								G	ASN/ASP	0,4406		0,0,2203	34.0	38.0	37.0		520	5.8	1.0	1	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHF13	NM_153812.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	174/301	6680241	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.520G>A	1.37:g.6680241G>A	ENSP00000366876:p.Asp174Asn		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.D174N	ENST00000377648.4	37	c.520	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119714	0.56613	0.0	1.16E-4	ENSG00000116273	ENST00000377648	T	0.44881	0.91	5.77	5.77	0.91146	.	0.157834	0.56097	D	0.000027	T	0.35364	0.0929	L	0.41236	1.265	0.50313	D	0.999861	D	0.59357	0.985	B	0.43331	0.416	T	0.05194	-1.0900	10	0.27785	T	0.31	-12.8059	12.3116	0.54931	0.0764:0.0:0.9236:0.0	.	174	Q86YI8	PHF13_HUMAN	N	174	ENSP00000366876:D174N	ENSP00000366876:D174N	D	+	1	0	PHF13	6602828	1.000000	0.71417	0.961000	0.40146	0.499000	0.33736	4.919000	0.63383	2.724000	0.93272	0.561000	0.74099	GAT	rs149667501	PHF13	-	NULL		0.587	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1	0	0		59	59		0.00		G	NM_153812		6680241	+1	32		43		tier1	no_errors	ENST00000377648	ensembl	human	known	74_37	missense	42.67		SNP	0.998	A	32	43
PTPRC	5788	genome.wustl.edu	37	1	198685878	198685878	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:198685878G>A	ENST00000367376.2	+	13	1524	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PTPRC_ENST00000348564.6_Silent_p.T292T|PTPRC_ENST00000594404.1_Silent_p.T290T|PTPRC_ENST00000352140.3_Silent_p.T403T|PTPRC_ENST00000442510.2_Silent_p.T453T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTTATACGAAATATGTTT	0.308													ENSG00000081237																																					0													63.0	66.0	65.0					1																	198685878		2203	4299	6502	SO:0001819	synonymous_variant	0			-	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1353G>A	1.37:g.198685878G>A			A8K7W6|Q16614|Q9H0Y6	Silent	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T453	ENST00000367376.2	37	c.1359		1																																																																																			-	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.308	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		0	0		53	53		0.00		G			198685878	+1	5		41		tier1	no_errors	ENST00000442510	ensembl	human	known	74_37	silent	10.87		SNP	0.001	A	5	41
ADAMTS20	80070	genome.wustl.edu	37	12	43862452	43862452	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:43862452C>T	ENST00000389420.3	-	8	1173	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E392K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTCCTTTTTCTTCATTAATA	0.338													ENSG00000173157																																					0													123.0	130.0	127.0					12																	43862452		2203	4300	6503	SO:0001583	missense	0			-	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1174G>A	12.37:g.43862452C>T	ENSP00000374071:p.Glu392Lys		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E392K	ENST00000389420.3	37	c.1174	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361357	0.82353	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.86497	-2.13;-2.13	5.2	5.2	0.72013	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000051	D	0.93138	0.7815	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.93379	0.6742	10	0.87932	D	0	.	19.636	0.95733	0.0:1.0:0.0:0.0	.	392	P59510	ATS20_HUMAN	K	392	ENSP00000374071:E392K;ENSP00000448341:E392K	ENSP00000374068:E392K	E	-	1	0	ADAMTS20	42148719	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	7.275000	0.78548	2.814000	0.96858	0.655000	0.94253	GAA	-	ADAMTS20	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	0	0		76	76		0.00		C	NM_025003		43862452	-1	9		61		tier1	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	12.86		SNP	1.000	T	9	61
OLFM3	118427	genome.wustl.edu	37	1	102269548	102269549	+	3'UTR	INS	-	-	TT	rs200235119	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:102269548_102269549insTT	ENST00000338858.5	-	0	1681_1682				OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_3'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)		CACTTAAACTCTTTTTTTTTTT	0.337													ENSG00000118733																																					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.*246->AA	1.37:g.102269557_102269558dupTT			Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	R	INS	-	NULL	ENST00000338858.5	37	NULL		1																																																																																				OLFM3	-	-		0.337	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	0	0		19	19		0.00		-			102269549	-1	3		33		tier1	no_errors	ENST00000462354	ensembl	human	known	74_37	rna	8.33		INS	0.515:0.475	TT	3	33
CD1A	909	genome.wustl.edu	37	1	158226673	158226673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:158226673G>A	ENST00000289429.5	+	4	1235	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	234	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGCCCGTGTGGGTGATGTGGA	0.632													ENSG00000158477																																					0													94.0	87.0	90.0					1																	158226673		2203	4298	6501	SO:0001587	stop_gained	0			-	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.702G>A	1.37:g.158226673G>A	ENSP00000289429:p.Trp234*		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.W234*	ENST00000289429.5	37	c.702	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.149786	0.98678	.	.	ENSG00000158477	ENST00000289429	.	.	.	3.8	3.8	0.43715	.	0.450602	0.16731	N	0.201840	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5091	11.4332	0.50054	0.0:0.0:1.0:0.0	.	.	.	.	X	234	.	ENSP00000289429:W234X	W	+	3	0	CD1A	156493297	0.843000	0.29541	0.999000	0.59377	0.827000	0.46813	0.750000	0.26334	2.133000	0.65898	0.485000	0.47835	TGG	-	CD1A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.632	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	0	0		71	71		0.00		G	NM_001763		158226673	+1	25		117		tier1	no_errors	ENST00000289429	ensembl	human	known	74_37	nonsense	17.61		SNP	0.997	A	25	117
LOC388813	388813	genome.wustl.edu	37	21	15988332	15988332	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:15988332A>G	ENST00000400562.1	-	3	211	c.162T>C	c.(160-162)gtT>gtC	p.V54V	AF165138.7_ENST00000469393.1_5'UTR																central_nervous_system(1)	1						CTAAATTAGAAACTCCCTGta	0.239													ENSG00000243440																																					0																																										SO:0001819	synonymous_variant	0			-																												ENST00000400562.1:c.162T>C	21.37:g.15988332A>G				Silent	SNP	NULL	p.V54	ENST00000400562.1	37	c.162		21	.	.	.	.	.	.	.	.	.	.	A	0.339	-0.951620	0.02285	.	.	ENSG00000243440	ENST00000442499	.	.	.	4.34	1.99	0.26369	.	.	.	.	.	T	0.51822	0.1697	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42666	-0.9438	4	.	.	.	.	5.094	0.14723	0.7146:0.1869:0.0985:0.0	.	.	.	.	L	34	.	.	F	-	1	0	AF165138.7	14910203	1.000000	0.71417	0.972000	0.41901	0.049000	0.14656	1.834000	0.39171	0.771000	0.33359	-0.940000	0.02684	TTC	-	AF165138.7	-	NULL		0.239	AF165138.7-001	PUTATIVE	basic|appris_principal	protein_coding	LOC388813	Clone_based_vega_gene	protein_coding	OTTHUMT00000157908.1	0	0		125	125		0.00		A			15988332	-1	24		140		tier1	no_errors	ENST00000400562	ensembl	human	putative	74_37	silent	14.63		SNP	1.000	G	24	140
CYB5RL	606495	genome.wustl.edu	37	1	54644984	54644984	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:54644984G>A	ENST00000534324.1	-	5	581	c.582C>T	c.(580-582)gcC>gcT	p.A194A	CYB5RL_ENST00000419823.2_Silent_p.A194A|CYB5RL_ENST00000401046.3_Silent_p.A46A|CYB5RL_ENST00000542737.1_Silent_p.A194A|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000537208.1_Intron			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	194							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCACCATGGGGGCCAGGCCCG	0.547													ENSG00000215883																																					0													44.0	49.0	48.0					1																	54644984		1994	4162	6156	SO:0001819	synonymous_variant	0			-		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.582C>T	1.37:g.54644984G>A			B7ZBS4|Q8NF25	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/D-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_DH-Cyt_B5_reductase,prints_Phe_hydroxylase	p.A194	ENST00000534324.1	37	c.582	CCDS44151.1	1																																																																																			-	CYB5RL	-	pfam_OxRdtase_FAD/D-bd,prints_DH-Cyt_B5_reductase,prints_Phe_hydroxylase		0.547	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	HGNC	protein_coding	OTTHUMT00000388318.1	0	0		65	65		0.00		G	NM_001031672		54644984	-1	14		67		tier1	no_errors	ENST00000419823	ensembl	human	known	74_37	silent	17.07		SNP	0.993	A	14	67
KCNA4	3739	genome.wustl.edu	37	11	30034739	30034739	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:30034739G>A	ENST00000328224.6	-	0	720				KCNA4_ENST00000526518.1_5'UTR	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTGATGGCTCGAACCATGTTA	0.388													ENSG00000182255																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.-514C>T	11.37:g.30034739G>A				R	SNP	-	NULL	ENST00000328224.6	37	NULL	CCDS41629.1	11																																																																																			-	KC4	-	-		0.388	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KC4	HGNC	protein_coding	OTTHUMT00000388074.2	0	0		77	77		0.00		G	NM_002233		30034739	-1	15		79		tier1	no_errors	ENST00000526518	ensembl	human	putative	74_37	rna	15.96		SNP	0.690	A	15	79
TENM2	57451	genome.wustl.edu	37	5	166711897	166711897	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:166711897G>A	ENST00000518659.1	+	1	94	c.55G>A	c.(55-57)Gag>Aag	p.E19K	TENM2_ENST00000545108.1_Missense_Mutation_p.E19K|CTB-180C19.1_ENST00000521697.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	19	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTGTGGCAAAGAGTGTCGCTA	0.522													ENSG00000145934																																					0													67.0	65.0	65.0					5																	166711897		692	1591	2283	SO:0001583	missense	0			-	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.55G>A	5.37:g.166711897G>A	ENSP00000429430:p.Glu19Lys		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E19K	ENST00000518659.1	37	c.55		5	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868051	0.72065	.	.	ENSG00000145934	ENST00000518659;ENST00000545108	T;T	0.41758	0.99;0.99	5.16	5.16	0.70880	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.42063	0.1186	L	0.50333	1.59	0.80722	D	1	B	0.14805	0.011	B	0.22152	0.038	T	0.36939	-0.9727	9	0.87932	D	0	.	15.7493	0.77969	0.0:0.1364:0.8636:0.0	.	19	Q9NT68	TEN2_HUMAN	K	19	ENSP00000429430:E19K;ENSP00000438635:E19K	ENSP00000429430:E19K	E	+	1	0	ODZ2	166644475	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.292000	0.78731	2.398000	0.81561	0.591000	0.81541	GAG	-	TENM2	-	pfam_Ten_N		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	0	0		29	29		0.00		G	NM_001122679		166711897	+1	7		33		tier1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	17.50		SNP	1.000	A	7	33
ASB13	79754	genome.wustl.edu	37	10	5683863	5683863	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5683863C>T	ENST00000357700.6	-	5	605	c.579G>A	c.(577-579)aaG>aaA	p.K193K	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	193					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GGTCAACATTCTTGACCTTGG	0.557													ENSG00000196372																																					0													123.0	100.0	108.0					10																	5683863		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.579G>A	10.37:g.5683863C>T			A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.K193	ENST00000357700.6	37	c.579	CCDS7070.1	10																																																																																			-	ASB13	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.557	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB13	HGNC	protein_coding	OTTHUMT00000046564.1	0	0		43	43		0.00		C			5683863	-1	16		45		tier1	no_errors	ENST00000357700	ensembl	human	known	74_37	silent	26.23		SNP	1.000	T	16	45
F5	2153	genome.wustl.edu	37	1	169510971	169510971	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:169510971C>T	ENST00000367797.3	-	13	3558	c.3357G>A	c.(3355-3357)caG>caA	p.Q1119Q	F5_ENST00000367796.3_Silent_p.Q1124Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1119	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGGCACTGTCTGATAAAGAC	0.488													ENSG00000198734																																					0													138.0	140.0	140.0					1																	169510971		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3357G>A	1.37:g.169510971C>T			A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1119	ENST00000367797.3	37	c.3357	CCDS1281.1	1																																																																																			-	F5	-	NULL		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	0	0		46	46		0.00		C	NM_000130		169510971	-1	39		39		tier1	no_errors	ENST00000367797	ensembl	human	known	74_37	silent	50.00		SNP	0.000	T	39	39
LINC00943	100507206	genome.wustl.edu	37	12	127229425	127229425	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:127229425G>A	ENST00000535544.1	+	0	1442				LINC00944_ENST00000540684.1_lincRNA					long intergenic non-protein coding RNA 943																		AAGTCATTGGGGAATACTCTG	0.413													ENSG00000189238																																					0																																												0			-			12q24.32	2013-05-30			ENSG00000189238	ENSG00000189238		"""Long non-coding RNAs"""	48639	non-coding RNA	RNA, long non-coding							Standard	NR_038256		Approved				OTTHUMG00000168479		12.37:g.127229425G>A				R	SNP	-	NULL	ENST00000535544.1	37	NULL		12																																																																																			-	LINC00943	-	-		0.413	LINC00943-002	KNOWN	basic	lincRNA	LINC00943	HGNC	lincRNA	OTTHUMT00000399867.1	0	0		110	110		0.00		G			127229425	+1	25		71		tier1	no_errors	ENST00000345111	ensembl	human	known	74_37	rna	26.04		SNP	0.004	A	25	71
NMI	9111	genome.wustl.edu	37	2	152135416	152135420	+	Frame_Shift_Del	DEL	GAACA	GAACA	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	GAACA	GAACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152135416_152135420delGAACA	ENST00000243346.5	-	4	732_736	c.262_266delTGTTC	c.(262-267)tgttcgfs	p.CS88fs		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	88					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CACTTGAAACGAACAGGAGATATTT	0.332													ENSG00000123609																																					0																																										SO:0001589	frameshift_variant	0				U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.262_266delTGTTC	2.37:g.152135416_152135420delGAACA	ENSP00000243346:p.Cys88fs		B5BU69|Q53TI8|Q9BVE5	Frame_Shift_Del	DEL	pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N	p.C88fs	ENST00000243346.5	37	c.266_262	CCDS2192.1	2																																																																																				NMI	-	pfam_Nmi/IFP35_N		0.332	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMI	HGNC	protein_coding	OTTHUMT00000254817.2									GAACA	NM_004688		152135420	-1					tier1	no_errors	ENST00000243346	ensembl	human	known	74_37	frame_shift_del			DEL	0.980:0.986:0.990:0.991:0.999	-		
RYR1	6261	genome.wustl.edu	37	19	38937391	38937391	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38937391G>A	ENST00000359596.3	+	9	783	c.783G>A	c.(781-783)ctG>ctA	p.L261L	RYR1_ENST00000355481.4_Silent_p.L261L|RYR1_ENST00000360985.3_Silent_p.L261L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	261	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCTGGAGGCTGGAGCCACTGA	0.602													ENSG00000196218																																					0													38.0	39.0	38.0					19																	38937391		2203	4300	6503	SO:0001819	synonymous_variant	0			-	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.783G>A	19.37:g.38937391G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L261	ENST00000359596.3	37	c.783	CCDS33011.1	19																																																																																			-	RYR1	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	0	0		47	47		0.00		G			38937391	+1	5		35		tier1	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	12.50		SNP	1.000	A	5	35
PTPRN	5798	genome.wustl.edu	37	2	220164892	220164892	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220164892G>A	ENST00000295718.2	-	9	1491	c.1251C>T	c.(1249-1251)acC>acT	p.T417T	PTPRN_ENST00000423636.2_Silent_p.T327T|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.T417T	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	417					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTTCACTGGAGGTAGGGCTGG	0.617													ENSG00000054356																																					0													66.0	76.0	72.0					2																	220164892		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1251C>T	2.37:g.220164892G>A			B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T417	ENST00000295718.2	37	c.1251	CCDS2440.1	2																																																																																			-	PTPRN	-	NULL		0.617	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	0	0		34	34		0.00		G			220164892	-1	5		26		tier1	no_errors	ENST00000295718	ensembl	human	known	74_37	silent	16.13		SNP	0.959	A	5	26
RPL27A	6157	genome.wustl.edu	37	11	8706304	8706304	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:8706304C>T	ENST00000314138.6	+	4	586	c.183C>T	c.(181-183)taC>taT	p.Y61Y	SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000530913.1_Silent_p.Y4Y|RPL27A_ENST00000530022.1_Silent_p.Y4Y|RPL27A_ENST00000531978.1_Silent_p.Y61Y|RPL27A_ENST00000526562.1_Silent_p.Y4Y|RPL27A_ENST00000532359.1_Intron|RPL27A_ENST00000524496.1_Silent_p.Y4Y|SNORA3_ENST00000364113.1_RNA	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	61					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGCATTACCACTTAAAGA	0.433													ENSG00000166441																																					0													120.0	123.0	122.0					11																	8706304		2201	4296	6497	SO:0001819	synonymous_variant	0			-	U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.183C>T	11.37:g.8706304C>T			B2R4B3	Silent	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.Y61	ENST00000314138.6	37	c.183	CCDS7790.1	11																																																																																			-	RPL27A	-	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P		0.433	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL27A	HGNC	protein_coding	OTTHUMT00000386506.1	0	0		100	100		0.00		C	NM_000990		8706304	+1	56		88		tier1	no_errors	ENST00000314138	ensembl	human	known	74_37	silent	38.62		SNP	1.000	T	56	88
ZNRF2P2	100271874	genome.wustl.edu	37	7	29690808	29690808	+	RNA	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:29690808T>A	ENST00000426767.1	-	0	513					NR_024278.1				zinc and ring finger 2 pseudogene 2																		CCATTAGTTCTTGTTTTAAAA	0.408													ENSG00000225264																																					0																																												0			-			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29690808T>A				R	SNP	-	NULL	ENST00000426767.1	37	NULL		7																																																																																			-	ZNRF2P2	-	-		0.408	ZNRF2P2-003	KNOWN	basic	processed_transcript	ZNRF2P2	HGNC	pseudogene	OTTHUMT00000327679.1	0	0		9	9		0.00		T	NR_027347		29690808	-1	5		6		tier1	no_errors	ENST00000426767	ensembl	human	known	74_37	rna	45.45		SNP	0.191	A	5	6
RHBDF2	79651	genome.wustl.edu	37	17	74474927	74474927	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:74474927C>T	ENST00000313080.4	-	6	993	c.720G>A	c.(718-720)gtG>gtA	p.V240V	RHBDF2_ENST00000389760.4_Silent_p.V211V|RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000591885.1_Silent_p.V211V	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	240					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TCATGTGGGCCACAGACATTC	0.687													ENSG00000129667																																					0													50.0	43.0	45.0					17																	74474927		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.720G>A	17.37:g.74474927C>T			A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.V240	ENST00000313080.4	37	c.720	CCDS32743.1	17																																																																																			-	RHBDF2	-	pfam_Rhomboid_SP		0.687	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	0	0		27	27		0.00		C	NM_024599		74474927	-1	12		17		tier1	no_errors	ENST00000313080	ensembl	human	known	74_37	silent	41.38		SNP	1.000	T	12	17
APBA2	321	genome.wustl.edu	37	15	29397681	29397681	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:29397681G>A	ENST00000558402.1	+	12	2223	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	APBA2_ENST00000558259.1_Missense_Mutation_p.E542K|APBA2_ENST00000558330.1_Missense_Mutation_p.E530K|APBA2_ENST00000561069.1_Missense_Mutation_p.E542K|APBA2_ENST00000411764.1_Missense_Mutation_p.E530K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	542	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGCCAGAAGGAATACAGCGA	0.572													ENSG00000034053																																					0													172.0	121.0	138.0					15																	29397681		2202	4300	6502	SO:0001583	missense	0			-	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1624G>A	15.37:g.29397681G>A	ENSP00000453293:p.Glu542Lys		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.E542K	ENST00000558402.1	37	c.1624	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969553	0.74246	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.06933	3.24	4.07	4.07	0.47477	Phosphotyrosine interaction domain (1);PDZ/DHR/GLGF (1);	0.211797	0.40302	N	0.001128	T	0.12689	0.0308	M	0.68593	2.085	0.80722	D	1	P;P;P	0.40909	0.485;0.732;0.474	B;B;B	0.38378	0.26;0.272;0.15	T	0.05582	-1.0876	10	0.59425	D	0.04	.	15.7554	0.78018	0.0:0.0:1.0:0.0	.	530;530;542	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	K	530;542	ENSP00000409312:E530K	ENSP00000219865:E542K	E	+	1	0	APBA2	27184973	1.000000	0.71417	0.981000	0.43875	0.261000	0.26267	7.397000	0.79903	2.233000	0.73108	0.313000	0.20887	GAA	-	APBA2	-	superfamily_PDZ,pfscan_PTB/PI_dom		0.572	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	0	0		67	67		0.00		G	NM_005503		29397681	+1	21		20		tier1	no_errors	ENST00000558259	ensembl	human	known	74_37	missense	51.22		SNP	1.000	A	21	20
LDB3	11155	genome.wustl.edu	37	10	88476375	88476375	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:88476375C>T	ENST00000361373.4	+	9	1544	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	LDB3_ENST00000429277.2_Missense_Mutation_p.S513F|LDB3_ENST00000263066.6_Missense_Mutation_p.S398F|LDB3_ENST00000458213.2_Missense_Mutation_p.S398F|LDB3_ENST00000352360.5_Missense_Mutation_p.S251F	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGCACCACCTCCATCAGCAAG	0.682													ENSG00000122367																																					0													65.0	71.0	69.0					10																	88476375		2203	4300	6503	SO:0001583	missense	0			-	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1523C>T	10.37:g.88476375C>T	ENSP00000355296:p.Ser508Phe			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.S513F	ENST00000361373.4	37	c.1538	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560893	0.86335	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.55413	0.75;0.58;0.56;0.58;0.52	4.89	4.89	0.63831	.	0.947703	0.08560	N	0.927717	T	0.70988	0.3287	M	0.68952	2.095	0.80722	D	1	P;P;B;D;B	0.64830	0.612;0.731;0.25;0.994;0.115	B;P;B;P;B	0.58331	0.259;0.628;0.323;0.837;0.244	T	0.68693	-0.5341	10	0.66056	D	0.02	.	18.4308	0.90624	0.0:1.0:0.0:0.0	.	513;429;251;508;398	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	F	429;513;398;251;398;508	ENSP00000401437:S513F;ENSP00000409148:S398F;ENSP00000263067:S251F;ENSP00000263066:S398F;ENSP00000355296:S508F	ENSP00000263066:S398F	S	+	2	0	LDB3	88466355	0.131000	0.22433	0.074000	0.20217	0.941000	0.58515	3.640000	0.54350	2.419000	0.82065	0.650000	0.86243	TCC	-	LDB3	-	NULL		0.682	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	0	0		46	46		0.00		C			88476375	+1	21		25		tier1	no_errors	ENST00000429277	ensembl	human	known	74_37	missense	45.65		SNP	0.967	T	21	25
GULP1	51454	genome.wustl.edu	37	2	189342386	189342386	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:189342386G>A	ENST00000409580.1	+	0	671				GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409830.1_5'UTR|GULP1_ENST00000409637.3_5'UTR|GULP1_ENST00000359135.3_5'UTR|GULP1_ENST00000410051.1_5'UTR|GULP1_ENST00000409805.1_5'UTR|GULP1_ENST00000409609.1_5'UTR|GULP1_ENST00000409843.1_5'UTR			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ACTTTTACAGGATTTAAGTCG	0.323													ENSG00000144366																									Pancreas(178;563 2065 20199 42378 52815)												0													116.0	115.0	115.0					2																	189342386		2203	4299	6502	SO:0001623	5_prime_UTR_variant	0			-	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.-44G>A	2.37:g.189342386G>A			B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	R	SNP	-	NULL	ENST00000409580.1	37	NULL	CCDS2295.1	2																																																																																			-	GULP1	-	-		0.323	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GULP1	HGNC	protein_coding	OTTHUMT00000335722.1	0	0		51	51		0.00		G	NM_016315		189342386	+1	20		42		tier1	no_errors	ENST00000479019	ensembl	human	known	74_37	rna	32.26		SNP	0.384	A	20	42
MYBPC2	4606	genome.wustl.edu	37	19	50947029	50947029	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50947029G>A	ENST00000357701.5	+	11	1140	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	363	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTGACCGGGTGGAAATGGCAG	0.547													ENSG00000086967																																					0													193.0	199.0	197.0					19																	50947029		2071	4207	6278	SO:0001819	synonymous_variant	0			-		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1089G>A	19.37:g.50947029G>A			A1L4G9	Silent	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.V363	ENST00000357701.5	37	c.1089	CCDS46152.1	19																																																																																			-	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.547	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	0	0		68	68		0.00		G	NM_004533		50947029	+1	14		62		tier1	no_errors	ENST00000357701	ensembl	human	known	74_37	silent	18.42		SNP	1.000	A	14	62
HEATR1	55127	genome.wustl.edu	37	1	236719488	236719488	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:236719488A>T	ENST00000366582.3	-	38	5540	c.5426T>A	c.(5425-5427)cTt>cAt	p.L1809H	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1728H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1809					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTCTTTTTAAGAGATGTGAG	0.428													ENSG00000119285																																					0													136.0	133.0	134.0					1																	236719488		2203	4300	6503	SO:0001583	missense	0			-	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5426T>A	1.37:g.236719488A>T	ENSP00000355541:p.Leu1809His		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L1809H	ENST00000366582.3	37	c.5426	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901139	0.52227	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.73681	-0.77;-0.77	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.070046	0.52532	D	0.000066	D	0.83004	0.5160	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.972;0.992	T	0.81187	-0.1047	10	0.27785	T	0.31	.	13.4801	0.61330	1.0:0.0:0.0:0.0	.	1728;1809	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	H	1809;1728	ENSP00000355541:L1809H;ENSP00000355540:L1728H	ENSP00000355540:L1728H	L	-	2	0	HEATR1	234786111	1.000000	0.71417	0.938000	0.37757	0.127000	0.20565	7.772000	0.85439	2.028000	0.59812	0.528000	0.53228	CTT	-	HEATR1	-	superfamily_ARM-type_fold		0.428	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	0	0		53	53		0.00		A	XM_375853		236719488	-1	24		44		tier1	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	35.29		SNP	0.923	T	24	44
BAI3	577	genome.wustl.edu	37	6	69684677	69684677	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:69684677G>A	ENST00000370598.1	+	9	2369	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	516					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATGCCCTGAGGATTATCTGA	0.423													ENSG00000135298																																					0													108.0	104.0	105.0					6																	69684677		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1548G>A	6.37:g.69684677G>A			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E516	ENST00000370598.1	37	c.1548	CCDS4968.1	6																																																																																			-	BAI3	-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.423	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	0	0		57	57		0.00		G			69684677	+1	7		59		tier1	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	10.61		SNP	1.000	A	7	59
DYNC2H1	79659	genome.wustl.edu	37	11	103158310	103158310	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:103158310G>A	ENST00000375735.2	+	75	11215	c.11071G>A	c.(11071-11073)Gct>Act	p.A3691T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A3698T|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	3691	AAA 6. {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)		AAGTGCCATGGCTCTTTTTGC	0.333													ENSG00000187240																																					0													98.0	94.0	95.0					11																	103158310		1844	4093	5937	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.11071G>A	11.37:g.103158310G>A	ENSP00000364887:p.Ala3691Thr		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.A3698T	ENST00000375735.2	37	c.11092	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711821	0.30322	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.08370	3.1;3.1	5.79	3.88	0.44766	Dynein heavy chain (1);	0.304312	0.35040	N	0.003492	T	0.03095	0.0091	N	0.02802	-0.49	0.44816	D	0.997828	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.006	T	0.34354	-0.9832	10	0.05721	T	0.95	.	10.8238	0.46620	0.0683:0.0:0.8012:0.1305	.	3691;3698	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	3691;3698	ENSP00000364887:A3691T;ENSP00000381167:A3698T	ENSP00000364887:A3691T	A	+	1	0	DYNC2H1	102663520	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.397000	0.52572	0.766000	0.33244	0.655000	0.94253	GCT	-	DYNC2H1	-	pfam_Dynein_heavy_dom		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	0	0		86	86		0.00		G	XM_370652		103158310	+1	31		56		tier1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	35.63		SNP	1.000	A	31	56
KCNH5	27133	genome.wustl.edu	37	14	63174717	63174717	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:63174717C>T	ENST00000322893.7	-	11	2744	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	826					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCAGTCTTCCTTTTTCTCC	0.433													ENSG00000140015																																					0													149.0	142.0	144.0					14																	63174717		2203	4300	6503	SO:0001583	missense	0			-	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2476G>A	14.37:g.63174717C>T	ENSP00000321427:p.Glu826Lys		C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.E826K	ENST00000322893.7	37	c.2476	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572881	0.45798	.	.	ENSG00000140015	ENST00000322893	D	0.99186	-5.53	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.97701	0.9246	L	0.61218	1.895	0.80722	D	1	P	0.38420	0.63	B	0.32211	0.142	D	0.97739	1.0207	10	0.24483	T	0.36	.	20.4025	0.99000	0.0:1.0:0.0:0.0	.	826	Q8NCM2	KCNH5_HUMAN	K	826	ENSP00000321427:E826K	ENSP00000321427:E826K	E	-	1	0	KCNH5	62244470	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.973000	0.56845	2.828000	0.97474	0.650000	0.86243	GAA	-	KCNH5	-	NULL		0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	0	0		74	74		0.00		C	NM_139318		63174717	-1	9		40		tier1	no_errors	ENST00000322893	ensembl	human	known	74_37	missense	18.37		SNP	1.000	T	9	40
DIO1	1733	genome.wustl.edu	37	1	54371793	54371793	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:54371793G>A	ENST00000361921.3	+	3	531	c.507G>A	c.(505-507)atG>atA	p.M169I	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000322679.6_Intron|DIO1_ENST00000388876.3_Missense_Mutation_p.M121I|DIO1_ENST00000524406.1_Missense_Mutation_p.M40I|DIO1_ENST00000525202.1_Missense_Mutation_p.M105I	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	169					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						AGAACAACATGGACATCAGAA	0.547													ENSG00000211452																																					0													66.0	63.0	64.0					1																	54371793		2203	4300	6503	SO:0001583	missense	0			-		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.507G>A	1.37:g.54371793G>A	ENSP00000354643:p.Met169Ile		Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	pfam_Iodothyronine_deiodinase	p.M121I	ENST00000361921.3	37	c.363	CCDS41339.1	1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100527	0.37048	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000525202;ENST00000524406;ENST00000388876	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	4.83	3.89	0.44902	Thioredoxin-like fold (1);	0.636054	0.14549	N	0.312759	T	0.13586	0.0329	N	0.04090	-0.28	0.24406	N	0.99469	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.12837	0.001;0.008;0.0	T	0.08911	-1.0699	10	0.32370	T	0.25	.	7.0476	0.25055	0.0913:0.0:0.6252:0.2834	.	169;105;121	P49895;P49895-2;P49895-4	IOD1_HUMAN;.;.	I	126;169;105;40;121	ENSP00000432797:M126I;ENSP00000354643:M169I;ENSP00000435725:M105I;ENSP00000434152:M40I;ENSP00000373528:M121I	ENSP00000354643:M169I	M	+	3	0	DIO1	54144381	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.437000	0.21543	2.364000	0.80123	0.561000	0.74099	ATG	-	DIO1	-	pfam_Iodothyronine_deiodinase		0.547	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO1	HGNC	protein_coding	OTTHUMT00000023247.3	0	0		28	28		0.00		G			54371793	+1	9		39		tier1	no_errors	ENST00000388876	ensembl	human	known	74_37	missense	18.75		SNP	1.000	A	9	39
GDPD2	54857	genome.wustl.edu	37	X	69647166	69647166	+	Silent	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:69647166C>G	ENST00000374382.3	+	10	1040	c.789C>G	c.(787-789)tcC>tcG	p.S263S	GDPD2_ENST00000453994.2_Silent_p.S263S|GDPD2_ENST00000536730.1_Silent_p.S184S|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.S184S	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	263	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CCCTCAGCTCCGATGGGGTCC	0.592													ENSG00000130055																																					0													67.0	51.0	56.0					X																	69647166		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.789C>G	X.37:g.69647166C>G			B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.S263	ENST00000374382.3	37	c.789	CCDS14402.1	X																																																																																			-	GDPD2	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl		0.592	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	HGNC	protein_coding	OTTHUMT00000057070.1	0	0		19	19		0.00		C	NM_017711		69647166	+1	14		18		tier1	no_errors	ENST00000453994	ensembl	human	known	74_37	silent	43.75		SNP	0.043	G	14	18
BCL9L	283149	genome.wustl.edu	37	11	118772243	118772243	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118772243G>A	ENST00000334801.3	-	6	3173	c.2209C>T	c.(2209-2211)Ccc>Tcc	p.P737S	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	737	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCCCATGGGAGTGCCCGCC	0.662													ENSG00000186174																																					0													80.0	74.0	76.0					11																	118772243		2200	4294	6494	SO:0001583	missense	0			-	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2209C>T	11.37:g.118772243G>A	ENSP00000335320:p.Pro737Ser		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P737S	ENST00000334801.3	37	c.2209	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240052	0.39598	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.78246	-1.16	4.7	4.7	0.59300	.	0.000000	0.46442	D	0.000286	T	0.69405	0.3107	L	0.50333	1.59	0.43471	D	0.995686	P;P	0.46512	0.879;0.808	B;B	0.40101	0.319;0.17	T	0.66874	-0.5813	10	0.18710	T	0.47	-12.038	12.2807	0.54762	0.0:0.1713:0.8287:0.0	.	732;737	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	737;700;30;737;737	ENSP00000335320:P737S	ENSP00000335320:P737S	P	-	1	0	BCL9L	118277453	1.000000	0.71417	0.871000	0.34182	0.925000	0.55904	5.883000	0.69721	2.443000	0.82685	0.313000	0.20887	CCC	-	BCL9L	-	NULL		0.662	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	0	0		9	9		0.00		G	NM_182557		118772243	-1	8		11		tier1	no_errors	ENST00000334801	ensembl	human	known	74_37	missense	40.00		SNP	0.989	A	8	11
SELE	6401	genome.wustl.edu	37	1	169697010	169697010	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:169697010G>A	ENST00000333360.7	-	9	1477	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	SELE_ENST00000367779.4_Intron|SELE_ENST00000367776.1_Silent_p.S383S|SELE_ENST00000367774.1_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367775.1_Silent_p.S321S|SELE_ENST00000367780.4_Silent_p.S321S|SELE_ENST00000367781.4_Silent_p.S383S|SELE_ENST00000367782.4_Intron|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	446	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CTCCAATAGGGGAATGAGCAC	0.493													ENSG00000007908																																					0													100.0	95.0	97.0					1																	169697010		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1338C>T	1.37:g.169697010G>A			A2RRD6|P16111	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.S446	ENST00000333360.7	37	c.1338	CCDS1283.1	1																																																																																			-	SELE	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.493	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1	0	0		49	49		0.00		G	NM_000450		169697010	-1	11		54		tier1	no_errors	ENST00000333360	ensembl	human	known	74_37	silent	16.92		SNP	0.000	A	11	54
KIAA0825	285600	genome.wustl.edu	37	5	93489826	93489826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:93489826C>T	ENST00000513200.3	-	20	3786	c.3714G>A	c.(3712-3714)tgG>tgA	p.W1238*	KIAA0825_ENST00000427991.2_Nonsense_Mutation_p.W1238*	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	1238										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TCTTCATTTCCCACCTAAAAG	0.358													ENSG00000185261																																					0													439.0	361.0	385.0					5																	93489826		692	1591	2283	SO:0001587	stop_gained	0			-	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.3714G>A	5.37:g.93489826C>T	ENSP00000424618:p.Trp1238*		O94914|Q6ZNN2	Nonsense_Mutation	SNP	NULL	p.W1238*	ENST00000513200.3	37	c.3714		5	.	.	.	.	.	.	.	.	.	.	C	39	7.368458	0.98241	.	.	ENSG00000185261	ENST00000513200;ENST00000427991	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	16.498	0.84250	0.0:1.0:0.0:0.0	.	.	.	.	X	1238	.	ENSP00000400288:W1238X	W	-	3	0	KIAA0825	93515582	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.101000	0.57769	2.704000	0.92352	0.655000	0.94253	TGG	-	KIAA0825	-	NULL		0.358	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	0	0		45	45		0.00		C	NM_173665		93489826	-1	17		48		tier1	no_errors	ENST00000427991	ensembl	human	known	74_37	nonsense	26.15		SNP	1.000	T	17	48
SPECC1L	23384	genome.wustl.edu	37	22	24698213	24698213	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:24698213G>A	ENST00000314328.9	+	3	299	c.14G>A	c.(13-15)aGc>aAc	p.S5N	SPECC1L_ENST00000416735.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.S5N|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S5N|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S5N	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	5					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAGAAAGCAAGCAGGAGTGTT	0.438													ENSG00000100014																																					0													78.0	71.0	73.0					22																	24698213		2203	4300	6503	SO:0001583	missense	0			-	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.14G>A	22.37:g.24698213G>A	ENSP00000325785:p.Ser5Asn		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.S5N	ENST00000314328.9	37	c.14	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	.	18.56	3.651100	0.67472	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.62232	0.04;2.52;0.04;3.04	5.3	4.27	0.50696	.	0.577657	0.19372	N	0.115861	T	0.46171	0.1379	L	0.29908	0.895	0.31556	N	0.658168	P;P	0.40476	0.718;0.596	B;B	0.32864	0.154;0.074	T	0.55541	-0.8125	10	0.42905	T	0.14	-13.0795	12.4804	0.55839	0.0822:0.0:0.9178:0.0	.	5;5	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	N	33;5;5;5;5	ENSP00000393363:S5N;ENSP00000405671:S5N;ENSP00000325785:S5N;ENSP00000439633:S5N	ENSP00000325785:S5N	S	+	2	0	SPECC1L	23028213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.905000	0.39878	1.342000	0.45619	0.655000	0.94253	AGC	-	SPECC1L	-	NULL		0.438	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	0	0		78	78		0.00		G	NM_015330		24698213	+1	33		61		tier1	no_errors	ENST00000314328	ensembl	human	known	74_37	missense	34.74		SNP	1.000	A	33	61
ATP7A	538	genome.wustl.edu	37	X	77245339	77245339	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:77245339C>T	ENST00000341514.6	+	4	1376	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	ATP7A_ENST00000343533.5_Silent_p.S407S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	407	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTGTAAAATCCATACGAGTCT	0.418													ENSG00000165240																																					0													126.0	116.0	119.0					X																	77245339		2203	4296	6499	SO:0001819	synonymous_variant	0			-	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1221C>T	X.37:g.77245339C>T			B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.S407	ENST00000341514.6	37	c.1221	CCDS35339.1	X																																																																																			-	ATP7A	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	0	0		46	46		0.00		C	NM_000052		77245339	+1	25		36		tier1	no_errors	ENST00000341514	ensembl	human	known	74_37	silent	40.98		SNP	0.876	T	25	36
OR52E2	119678	genome.wustl.edu	37	11	5080082	5080082	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5080082G>A	ENST00000321522.2	-	1	775	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTCATAAAGGAAAAGAGGGC	0.473													ENSG00000176787																																					0													90.0	90.0	90.0					11																	5080082		2201	4298	6499	SO:0001583	missense	0			-	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.776C>T	11.37:g.5080082G>A	ENSP00000322088:p.Ser259Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S259F	ENST00000321522.2	37	c.776	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611254	0.46631	.	.	ENSG00000176787	ENST00000321522	T	0.00107	8.72	3.76	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.130592	0.35320	N	0.003288	T	0.00496	0.0016	M	0.88979	2.995	0.23304	N	0.997941	D	0.89917	1.0	D	0.85130	0.997	T	0.29549	-1.0008	10	0.87932	D	0	.	9.7668	0.40565	0.1028:0.0:0.8972:0.0	.	259	Q8NGJ4	O52E2_HUMAN	F	259	ENSP00000322088:S259F	ENSP00000322088:S259F	S	-	2	0	OR52E2	5036658	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.475000	0.22164	2.425000	0.82216	0.644000	0.83932	TCC	-	OR52E2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	0	0		44	44		0.00		G	NM_001005164		5080082	-1	28		58		tier1	no_errors	ENST00000321522	ensembl	human	known	74_37	missense	32.56		SNP	0.505	A	28	58
ABI3BP	25890	genome.wustl.edu	37	3	100489667	100489667	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:100489667T>C	ENST00000284322.5	-	29	2637	c.2528A>G	c.(2527-2529)aAc>aGc	p.N843S	ABI3BP_ENST00000383691.4_Missense_Mutation_p.N797S|ABI3BP_ENST00000471714.1_Missense_Mutation_p.N1545S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	843	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CACAGTGAGGTTGGTGGGTGG	0.542													ENSG00000154175																																					0													205.0	216.0	213.0					3																	100489667		2004	4170	6174	SO:0001583	missense	0			-	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2528A>G	3.37:g.100489667T>C	ENSP00000284322:p.Asn843Ser		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N843S	ENST00000284322.5	37	c.2528	CCDS46880.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.4|29.4	5.002530|5.002530	0.93227|0.93227	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691|ENST00000495591	T;T;T|.	0.61392|.	0.11;0.11;0.11|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76884|0.76884	0.4050|0.4050	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;0.991;0.999|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.989;0.998|.	T|T	0.77603|0.77603	-0.2526|-0.2526	10|5	0.87932|.	D|.	0|.	-11.1406|-11.1406	16.4578|16.4578	0.84025|0.84025	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	797;843;1545;552|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	S|A	1545;843;552;254;797|899	ENSP00000420524:N1545S;ENSP00000284322:N843S;ENSP00000373189:N797S|.	ENSP00000284322:N843S|.	N|T	-|-	2|1	0|0	ABI3BP|ABI3BP	101972357|101972357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.431000|7.431000	0.80335|0.80335	2.288000|2.288000	0.76882|0.76882	0.482000|0.482000	0.46254|0.46254	AAC|ACC	-	ABI3BP	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.542	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	0	0		99	99		0.00		T			100489667	-1	55		88		tier1	no_errors	ENST00000284322	ensembl	human	known	74_37	missense	38.46		SNP	1.000	C	55	88
TAF6	6878	genome.wustl.edu	37	7	99709546	99709546	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:99709546C>T	ENST00000344095.4	-	8	1322	c.797G>A	c.(796-798)gGg>gAg	p.G266E	TAF6_ENST00000472509.1_Splice_Site_p.G323E|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000453269.2_Splice_Site_p.G266E|TAF6_ENST00000452041.1_Splice_Site_p.G266E|TAF6_ENST00000418432.2_Splice_Site_p.G190E|TAF6_ENST00000437822.2_Splice_Site_p.G303E	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	266					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTCTCACCCCCTCCGAGAT	0.607													ENSG00000106290																																					0													87.0	75.0	79.0					7																	99709546		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.798+1G>A	7.37:g.99709546C>T			A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.G266E	ENST00000344095.4	37	c.797	CCDS5686.1	7	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686819	0.88639	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	L	0.37561	1.115	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.949;1.0	D;D;D;P;D	0.87578	0.995;0.998;0.995;0.786;0.997	T	0.64127	-0.6480	10	0.20046	T	0.44	-22.2371	16.9091	0.86136	0.0:1.0:0.0:0.0	.	303;266;256;266;190	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	E	266;323;266;266;190;303	ENSP00000389575:G266E;ENSP00000419760:G323E;ENSP00000416396:G266E;ENSP00000344537:G266E;ENSP00000407980:G190E;ENSP00000399982:G303E	ENSP00000344537:G266E	G	-	2	0	TAF6	99547482	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.368000	0.66133	2.595000	0.87683	0.561000	0.74099	GGG	-	TAF6	-	superfamily_ARM-type_fold		0.607	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	HGNC	protein_coding	OTTHUMT00000337024.2	0	0		30	30		0.00		C	NM_005641	Missense_Mutation	99709546	-1	10		36		tier1	no_errors	ENST00000344095	ensembl	human	known	74_37	missense	21.74		SNP	1.000	T	10	36
TUBB8	347688	genome.wustl.edu	37	10	93253	93253	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:93253C>T	ENST00000309812.4	-	4	1141	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	TUBB8_ENST00000447903.2_Missense_Mutation_p.G288E|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	360					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATTTTTAGCCCCCGGGGTGG	0.483													ENSG00000173876																									Pancreas(192;2041 3010 9013 18103)												0													82.0	92.0	89.0					10																	93253		2203	4299	6502	SO:0001583	missense	0			-	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1079G>A	10.37:g.93253C>T	ENSP00000311042:p.Gly360Glu		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.G360E	ENST00000309812.4	37	c.1079	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403350	0.25291	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.84516	-1.86	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	U	0.000014	D	0.92967	0.7762	H	0.96460	3.825	0.39351	D	0.965755	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.982	D	0.90266	0.4304	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	323;360	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	E	288;326;323;360	ENSP00000403895:G288E	ENSP00000272035:G326E	G	-	2	0	RP11-631M21.2	83253	1.000000	0.71417	0.030000	0.17652	0.030000	0.12068	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GGG	-	TUBB8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin		0.483	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	HGNC	protein_coding	OTTHUMT00000467795.1	0	0		122	122		0.00		C	NM_177987		93253	-1	21		142		tier1	no_errors	ENST00000309812	ensembl	human	known	74_37	missense	12.88		SNP	1.000	T	21	142
TNIP1	10318	genome.wustl.edu	37	5	150411841	150411841	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:150411841G>A	ENST00000389378.2	-	17	2465				TNIP1_ENST00000523338.1_Intron|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000523200.1_Intron|TNIP1_ENST00000522226.1_Intron|TNIP1_ENST00000521591.1_Intron|TNIP1_ENST00000315050.7_Intron|TNIP1_ENST00000524280.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTATTAGGGGCTCACCTGG	0.532													ENSG00000145901																																					0													81.0	74.0	76.0					5																	150411841		2203	4300	6503	SO:0001627	intron_variant	0			-	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1876+6C>T	5.37:g.150411841G>A			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	R	SNP	-	NULL	ENST00000389378.2	37	NULL	CCDS34280.1	5																																																																																			-	TNIP1	-	-		0.532	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1	0	0		51	51		0.00		G	NM_006058		150411841	-1	31		45		tier1	no_errors	ENST00000521423	ensembl	human	known	74_37	rna	40.79		SNP	0.011	A	31	45
CEP250	11190	genome.wustl.edu	37	20	34078523	34078523	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34078523G>A	ENST00000397527.1	+	21	3367	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Intron	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	883	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTAGAAAGGGAAAAAATGGA	0.547													ENSG00000126001																																					0													78.0	80.0	79.0					20																	34078523		2203	4300	6503	SO:0001583	missense	0			-	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2647G>A	20.37:g.34078523G>A	ENSP00000380661:p.Glu883Lys		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E883K	ENST00000397527.1	37	c.2647	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081941	0.76528	.	.	ENSG00000126001	ENST00000397527	T	0.15487	2.42	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000020	T	0.42653	0.1212	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.36939	-0.9727	10	0.59425	D	0.04	.	12.8225	0.57700	0.0:0.0:1.0:0.0	.	883	Q9BV73	CP250_HUMAN	K	883	ENSP00000380661:E883K	ENSP00000380661:E883K	E	+	1	0	CEP250	33541937	1.000000	0.71417	0.914000	0.36105	0.542000	0.35054	4.401000	0.59716	2.503000	0.84419	0.555000	0.69702	GAA	-	CEP250	-	NULL		0.547	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	0	0		46	46		0.00		G	NM_007186		34078523	+1	23		39		tier1	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	37.10		SNP	0.960	A	23	39
DUOX1	53905	genome.wustl.edu	37	15	45430157	45430157	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45430157G>A	ENST00000321429.4	+	11	1465	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R353Q|DUOX1_ENST00000561166.1_5'Flank	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	353	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GTCATCAATCGGAACTCAAGT	0.532													ENSG00000137857																																					0													98.0	97.0	97.0					15																	45430157		2198	4298	6496	SO:0001583	missense	0			-	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1058G>A	15.37:g.45430157G>A	ENSP00000317997:p.Arg353Gln		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.R353Q	ENST00000321429.4	37	c.1058	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	9.074	0.997550	0.19043	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85955	-2.05;-2.05	4.6	-3.79	0.04320	.	2.000400	0.02079	N	0.052161	T	0.63094	0.2482	N	0.01705	-0.755	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.58358	-0.7650	10	0.15499	T	0.54	-1.14	7.578	0.27948	0.586:0.1242:0.2898:0.0	.	353	Q9NRD9	DUOX1_HUMAN	Q	353	ENSP00000317997:R353Q;ENSP00000373689:R353Q	ENSP00000317997:R353Q	R	+	2	0	DUOX1	43217449	0.000000	0.05858	0.003000	0.11579	0.955000	0.61496	-1.836000	0.01690	-0.918000	0.03808	-0.471000	0.05019	CGG	-	DUOX1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.532	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	0	0		48	48		0.00		G	NM_017434		45430157	+1	23		19		tier1	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	54.76		SNP	0.000	A	23	19
AFG3L1P	172	genome.wustl.edu	37	16	90066262	90066262	+	IGR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:90066262C>T								AFG3L1P (3231 upstream) : DBNDD1 (5010 downstream)																							CAAGGGGCTCCGCTACGCACA	0.647													ENSG00000223959																																					0																																										SO:0001628	intergenic_variant	0			-																													16.37:g.90066262C>T				R	SNP	-	NULL		37	NULL		16																																																																																			-	AFG3L1P	-	-	0	0.647					AFG3L1P	HGNC			0	0		38	38		0.00		C			90066262	+1	11		26		tier1	no_errors	ENST00000388970	ensembl	human	known	74_37	rna	29.73		SNP	0.791	T	11	26
TRPM3	80036	genome.wustl.edu	37	9	74061680	74061680	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:74061680G>A	ENST00000357533.2	-	1	71	c.72C>T	c.(70-72)agC>agT	p.S24S	TRPM3_ENST00000423814.3_Silent_p.S24S			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1628					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCGTCTGCGGCTCTCCGCGT	0.662													ENSG00000083067																																					0																																										SO:0001819	synonymous_variant	0			-	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000357533.2:c.72C>T	9.37:g.74061680G>A			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.S24	ENST00000357533.2	37	c.72		9																																																																																			-	TRPM3	-	NULL		0.662	TRPM3-014	PUTATIVE	not_organism_supported|basic	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214163.1	0	0		96	96		0.00		G	NM_206945		74061680	-1	31		79		tier1	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	27.93		SNP	0.995	A	31	79
RFPL3	10738	genome.wustl.edu	37	22	32754117	32754117	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32754117C>T	ENST00000249007.4	+	1	264	c.59C>T	c.(58-60)cCc>cTc	p.P20L	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Intron|RFPL3_ENST00000382088.3_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	20							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AATTTTCTTCCCTTGTGTACT	0.468													ENSG00000128276																																					0													110.0	108.0	109.0					22																	32754117		2203	4300	6503	SO:0001583	missense	0			-	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.59C>T	22.37:g.32754117C>T	ENSP00000249007:p.Pro20Leu		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.P20L	ENST00000249007.4	37	c.59	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	2.612	-0.290651	0.05568	.	.	ENSG00000128276	ENST00000249007	T	0.51325	0.71	0.784	-1.43	0.08884	.	.	.	.	.	T	0.30039	0.0752	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22452	-1.0216	9	0.66056	D	0.02	.	3.6526	0.08209	0.0:0.5076:0.0:0.4924	.	20	O75679	RFPL3_HUMAN	L	20	ENSP00000249007:P20L	ENSP00000249007:P20L	P	+	2	0	RFPL3	31084117	0.008000	0.16893	0.000000	0.03702	0.135000	0.20990	0.586000	0.23894	-0.520000	0.06435	0.194000	0.17425	CCC	-	RFPL3	-	NULL		0.468	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	0	0		109	109		0.00		C	NM_006604		32754117	+1	50		126		tier1	no_errors	ENST00000249007	ensembl	human	known	74_37	missense	28.41		SNP	0.001	T	50	126
CSMD2	114784	genome.wustl.edu	37	1	34164453	34164453	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:34164453G>A	ENST00000373380.1	-	3	664	c.444C>T	c.(442-444)tcC>tcT	p.S148S	CSMD2_ENST00000373381.4_Silent_p.S1275S|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1235	Sushi 1. {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)				CACAGCTGAAGGACACGGAGC	0.582													ENSG00000121904																																					0													85.0	80.0	82.0					1																	34164453		2203	4300	6503	SO:0001819	synonymous_variant	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	ENST00000373380.1:c.444C>T	1.37:g.34164453G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	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.S1275	ENST00000373380.1	37	c.3825		1																																																																																			-	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.582	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	0	0		58	58		0.00		G	NM_052896		34164453	-1	14		81		tier1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	14.74		SNP	0.992	A	14	81
FAM71B	153745	genome.wustl.edu	37	5	156590527	156590527	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:156590527G>A	ENST00000302938.4	-	2	844	c.749C>T	c.(748-750)cCa>cTa	p.P250L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	250	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCGTGGATGGAGAAGCCGC	0.577													ENSG00000170613																																					0													84.0	74.0	77.0					5																	156590527		2203	4300	6503	SO:0001583	missense	0			-		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.749C>T	5.37:g.156590527G>A	ENSP00000305596:p.Pro250Leu		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.P250L	ENST00000302938.4	37	c.749	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	1.287	-0.608740	0.03717	.	.	ENSG00000170613	ENST00000302938	T	0.03920	3.76	3.66	-2.74	0.05932	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48445	-0.9035	9	0.16420	T	0.52	8.3223	6.0154	0.19601	0.3902:0.133:0.4768:0.0	.	250	Q8TC56	FA71B_HUMAN	L	250	ENSP00000305596:P250L	ENSP00000305596:P250L	P	-	2	0	FAM71B	156523105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.798000	0.01747	-0.866000	0.04068	-1.238000	0.01547	CCA	-	FAM71B	-	NULL		0.577	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	0	0		39	39		0.00		G	NM_130899		156590527	-1	24		28		tier1	no_errors	ENST00000302938	ensembl	human	known	74_37	missense	46.15		SNP	0.000	A	24	28
RYR1	6261	genome.wustl.edu	37	19	39034459	39034459	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39034459G>A	ENST00000359596.3	+	87	11956	c.11956G>A	c.(11956-11958)Gac>Aac	p.D3986N	RYR1_ENST00000355481.4_Missense_Mutation_p.D3981N|RYR1_ENST00000360985.3_Missense_Mutation_p.D3981N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3986					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCGCCTATGGGACGCAGTGGT	0.647													ENSG00000196218																																					0													84.0	72.0	76.0					19																	39034459		2203	4300	6503	SO:0001583	missense	0			-	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11956G>A	19.37:g.39034459G>A	ENSP00000352608:p.Asp3986Asn		Q16314|Q16368|Q9NPK1|Q9P1U4	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.D3986N	ENST00000359596.3	37	c.11956	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547126	0.65311	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95690	-3.78;-3.78;-3.78	4.31	4.31	0.51392	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000003	D	0.98027	0.9350	M	0.89715	3.055	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.85130	0.995;0.995;0.997	D	0.99226	1.0880	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:1.0:0.0	.	3981;3981;3986	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	N	3986;3981;3981	ENSP00000352608:D3986N;ENSP00000347667:D3981N;ENSP00000354254:D3981N	ENSP00000347667:D3981N	D	+	1	0	RYR1	43726299	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.376000	0.97181	2.244000	0.73946	0.491000	0.48974	GAC	-	RYR1	-	pfam_RIH_assoc-dom		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	0	0		24	24		0.00		G			39034459	+1	7		21		tier1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	25.00		SNP	1.000	A	7	21
RNF213	57674	genome.wustl.edu	37	17	78349617	78349617	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:78349617G>A	ENST00000582970.1	+	51	13275	c.13132G>A	c.(13132-13134)Gag>Aag	p.E4378K	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E4427K|RNF213_ENST00000336301.6_Missense_Mutation_p.E2451K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4378					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTGTTTAGAGAGGTGGCTAT	0.488													ENSG00000173821																																					0													104.0	95.0	98.0					17																	78349617		2203	4300	6503	SO:0001583	missense	0			-	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13132G>A	17.37:g.78349617G>A	ENSP00000464087:p.Glu4378Lys		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E4378K	ENST00000582970.1	37	c.13132	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532378	0.64972	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25579	1.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.84219	2.685	0.37489	D	0.916306	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.953	T	0.63382	-0.6650	10	0.54805	T	0.06	.	16.6329	0.85038	0.0:0.0:1.0:0.0	.	4427;2451	C9JCP4;Q63HN8	.;RN213_HUMAN	K	4378;4427;2451	ENSP00000338218:E2451K	ENSP00000338218:E2451K	E	+	1	0	RNF213	75964212	1.000000	0.71417	0.485000	0.27403	0.104000	0.19210	7.362000	0.79507	2.597000	0.87782	0.555000	0.69702	GAG	-	RNF213	-	NULL		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	0	0		65	65		0.00		G	NM_020914		78349617	+1	39		61		tier1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	39.00		SNP	0.991	A	39	61
RPL12	6136	genome.wustl.edu	37	9	130210073	130210073	+	Intron	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:130210073T>C	ENST00000361436.5	-	7	580				RPL12_ENST00000536368.1_Intron|SNORA65_ENST00000364432.1_RNA|RPL12_ENST00000497322.1_5'UTR	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGTAACCATTTCCAAAACTTC	0.413													ENSG00000197958																																					0													39.0	38.0	38.0					9																	130210073		692	1591	2283	SO:0001627	intron_variant	0			-		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.493-68A>G	9.37:g.130210073T>C			Q5VVV2|Q6PB27	R	SNP	-	NULL	ENST00000361436.5	37	NULL	CCDS6872.1	9																																																																																			-	RPL12	-	-		0.413	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL12	HGNC	protein_coding	OTTHUMT00000054189.1	0	0		53	53		0.00		T			130210073	-1	34		42		tier1	no_errors	ENST00000497322	ensembl	human	known	74_37	rna	44.74		SNP	0.001	C	34	42
GOLGA6L1	283767	genome.wustl.edu	37	15	22742699	22742699	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:22742699G>A	ENST00000560659.2	+	8	934	c.934G>A	c.(934-936)Gag>Aag	p.E312K	GOLGA6L1_ENST00000316397.3_Missense_Mutation_p.E362K			Q8N7Z2	GG6L1_HUMAN	golgin A6 family-like 1	356										NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						gtgggagaaggaggagaagAT	0.562													ENSG00000197414																																					0													2.0	1.0	1.0					15																	22742699		796	1071	1867	SO:0001583	missense	0			-	AK097517	CCDS73699.1	15q11.2	2012-10-05	2010-02-12		ENSG00000197414	ENSG00000277865			37444	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 1"""				Standard	NM_001001413		Approved		uc010tzx.1	Q8N7Z2	OTTHUMG00000171883	ENST00000560659.2:c.934G>A	15.37:g.22742699G>A	ENSP00000452626:p.Glu312Lys			Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.E362K	ENST00000560659.2	37	c.1084		15	.	.	.	.	.	.	.	.	.	.	.	7.117	0.577235	0.13686	.	.	ENSG00000197414	ENST00000316397;ENST00000355145	T	0.10005	2.92	.	.	.	.	.	.	.	.	T	0.11922	0.0290	L	0.46157	1.445	0.09310	N	1	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.41790	T	0.15	.	.	.	.	.	.	.	.	K	362	ENSP00000320207:E362K	ENSP00000320207:E362K	E	+	1	0	GOLGA6L1	20294063	0.451000	0.25705	0.017000	0.16124	0.017000	0.09413	0.770000	0.26618	0.149000	0.19098	0.152000	0.16155	GAG	-	GOLGA6L1	-	NULL		0.562	GOLGA6L1-002	KNOWN	basic|appris_candidate	protein_coding	GOLGA6L1	HGNC	protein_coding	OTTHUMT00000415616.2	0	0		286	286		0.00		G	NM_001001413		22742699	+1	47		238		tier1	no_errors	ENST00000316397	ensembl	human	known	74_37	missense	16.49		SNP	0.018	A	47	238
SPINT1	6692	genome.wustl.edu	37	15	41136786	41136786	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:41136786C>T	ENST00000344051.4	+	2	268	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	RP11-532F12.5_ENST00000568419.1_RNA|SPINT1_ENST00000562057.1_Missense_Mutation_p.L12F|RP11-532F12.5_ENST00000564302.1_RNA|SPINT1_ENST00000431806.1_Missense_Mutation_p.L12F|RP11-532F12.5_ENST00000568525.1_RNA|RP11-532F12.5_ENST00000565315.1_RNA			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	12					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ccgcgcccgcctcgccccggc	0.761													ENSG00000166145																																					0													10.0	13.0	12.0					15																	41136786		1878	3704	5582	SO:0001583	missense	0			-		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.34C>T	15.37:g.41136786C>T	ENSP00000342098:p.Leu12Phe		Q7Z7D2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L12F	ENST00000344051.4	37	c.34	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621746	0.28889	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95853	-3.83;-3.83	4.27	-0.419	0.12340	.	1.812950	0.02706	N	0.112267	D	0.90116	0.6912	N	0.08118	0	0.09310	N	1	B;P;B	0.35656	0.38;0.514;0.145	B;P;B	0.44518	0.265;0.452;0.177	D	0.84204	0.0452	10	0.34782	T	0.22	-2.5909	1.8652	0.03197	0.1612:0.4917:0.1572:0.1899	.	12;12;12	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	F	12	ENSP00000342098:L12F;ENSP00000409935:L12F	ENSP00000342098:L12F	L	+	1	0	SPINT1	38924078	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.300000	0.08243	0.036000	0.15547	-0.368000	0.07277	CTC	-	SPINT1	-	NULL		0.761	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	HGNC	protein_coding	OTTHUMT00000252359.2	0	0		9	9		0.00		C	NM_003710		41136786	+1	4		8		tier1	no_errors	ENST00000344051	ensembl	human	known	74_37	missense	33.33		SNP	0.000	T	4	8
CCDC74B	91409	genome.wustl.edu	37	2	130900608	130900608	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:130900608C>T	ENST00000310463.6	-	2	433				CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409234.3_Missense_Mutation_p.G177R|CCDC74B_ENST00000392984.3_5'UTR	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)					GCCCACCTCCCCACTGCAATG	0.612													ENSG00000152076																																					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+233G>A	2.37:g.130900608C>T			Q6NW18	Missense_Mutation	SNP	NULL	p.G177R	ENST00000310463.6	37	c.529	CCDS2155.1	2	.	.	.	.	.	.	.	.	.	.	.	12.94	2.087849	0.36855	.	.	ENSG00000152076	ENST00000409234	.	.	.	2.15	1.23	0.21249	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.18873	N	0.999988	P	0.44734	0.842	B	0.31442	0.13	T	0.15206	-1.0445	7	0.87932	D	0	.	4.944	0.13980	0.0:0.8048:0.0:0.1952	.	177	E9PG54	.	R	177	.	ENSP00000386303:G177R	G	-	1	0	CCDC74B	130617078	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.039000	0.13884	0.219000	0.20840	0.298000	0.19748	GGG	-	CCDC74B	-	NULL		0.612	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	0	0		42	42		0.00		C	NM_207310		130900608	-1	11		41		tier1	no_errors	ENST00000409234	ensembl	human	putative	74_37	missense	21.15		SNP	0.003	T	11	41
MS4A14	84689	genome.wustl.edu	37	11	60172041	60172041	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:60172041C>T	ENST00000300187.6	+	4	745				MS4A14_ENST00000395001.1_Missense_Mutation_p.P52L|MS4A14_ENST00000531783.1_Intron|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							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						ctcactcctccacactccagc	0.463													ENSG00000166928																																					0																																										SO:0001627	intron_variant	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.468+1507C>T	11.37:g.60172041C>T			E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.P164L	ENST00000300187.6	37	c.491	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	5.151	0.213407	0.09757	.	.	ENSG00000166928	ENST00000395001	.	.	.	2.19	1.26	0.21427	.	.	.	.	.	T	0.38612	0.1047	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36841	-0.9731	5	0.87932	D	0	.	4.818	0.13376	0.0:0.8187:0.0:0.1813	.	.	.	.	L	52	.	ENSP00000378449:P52L	P	+	2	0	MS4A14	59928617	0.000000	0.05858	0.002000	0.10522	0.150000	0.21749	0.029000	0.13666	0.503000	0.28060	0.551000	0.68910	CCA	-	MS4A14	-	NULL		0.463	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	0	0		116	116		0.00		C			60172041	+1	31		75		tier1	no_errors	ENST00000525397	ensembl	human	known	74_37	missense	29.25		SNP	0.002	T	31	75
AGK	55750	genome.wustl.edu	37	7	141351367	141351367	+	Silent	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:141351367G>T	ENST00000355413.4	+	15	1349	c.1089G>T	c.(1087-1089)acG>acT	p.T363T	RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Silent_p.T335T|AGK_ENST00000535825.1_3'UTR	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGAGGGCACGGAGTGTCTCC	0.552													ENSG00000006530																																					0													108.0	85.0	93.0					7																	141351367		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1089G>T	7.37:g.141351367G>T			Q75KN1|Q96GC3|Q9NP48	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.T363	ENST00000355413.4	37	c.1089	CCDS5865.1	7																																																																																			-	AGK	-	NULL		0.552	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	HGNC	protein_coding	OTTHUMT00000348969.1	0	0		37	37		0.00		G	NM_018238		141351367	+1	27		55		tier1	no_errors	ENST00000355413	ensembl	human	known	74_37	silent	32.93		SNP	0.944	T	27	55
MTUS2	23281	genome.wustl.edu	37	13	29600198	29600198	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:29600198G>A	ENST00000431530.3	+	1	1451	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	455						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTCATTGAGGAGGAAAGGCG	0.493													ENSG00000132938																																					0													71.0	74.0	73.0					13																	29600198		1937	4134	6071	SO:0001583	missense	0			-	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1393G>A	13.37:g.29600198G>A	ENSP00000392057:p.Glu465Lys		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.E465K	ENST00000431530.3	37	c.1393	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	12.98	2.101636	0.37048	.	.	ENSG00000132938	ENST00000431530	T	0.12569	2.67	5.92	1.76	0.24704	.	0.870472	0.09949	N	0.734953	T	0.10852	0.0265	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.38650	-0.9651	9	.	.	.	.	4.1839	0.10388	0.3358:0.1903:0.4739:0.0	.	455	Q5JR59	MTUS2_HUMAN	K	465	ENSP00000392057:E465K	.	E	+	1	0	MTUS2	28498198	0.694000	0.27738	0.001000	0.08648	0.044000	0.14063	0.294000	0.19047	0.317000	0.23160	0.655000	0.94253	GAG	-	MTUS2	-	NULL		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	0	0		70	70		0.00		G	XM_166270		29600198	+1	19		58		tier1	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	24.68		SNP	0.001	A	19	58
STAT4	6775	genome.wustl.edu	37	2	191919252	191919252	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:191919252C>T	ENST00000392320.2	-	14	1529	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	STAT4_ENST00000358470.4_Silent_p.K405K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	405					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACTTCATTTCCTTTGGTTGCT	0.338													ENSG00000138378																																					0													99.0	108.0	105.0					2																	191919252		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1215G>A	2.37:g.191919252C>T			Q96NZ6	Silent	SNP	pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.K405	ENST00000392320.2	37	c.1215	CCDS2310.1	2																																																																																			-	STAT4	-	pfam_STAT_TF_D-bd,superfamily_p53-like_TF_D-bd		0.338	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	0	0		94	94		0.00		C	NM_003151		191919252	-1	21		78		tier1	no_errors	ENST00000358470	ensembl	human	known	74_37	silent	21.21		SNP	1.000	T	21	78
KRT5	3852	genome.wustl.edu	37	12	52911713	52911713	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:52911713C>T	ENST00000252242.4	-	4	1285	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	299	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAGTTAATCTCATCCATCAGT	0.433													ENSG00000186081																																					0													162.0	147.0	152.0					12																	52911713		2203	4300	6503	SO:0001583	missense	0			-		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.895G>A	12.37:g.52911713C>T	ENSP00000252242:p.Glu299Lys		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E299K	ENST00000252242.4	37	c.895	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.240845	0.95240	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.93019	-3.15	5.25	4.36	0.52297	Filament (1);	0.110148	0.39909	N	0.001233	D	0.97598	0.9213	H	0.96142	3.775	0.50171	D	0.999854	D	0.76494	0.999	D	0.73380	0.98	D	0.98570	1.0645	10	0.87932	D	0	.	13.8388	0.63426	0.0:0.9266:0.0:0.0734	.	299	P13647	K2C5_HUMAN	K	299;264	ENSP00000252242:E299K	ENSP00000252242:E299K	E	-	1	0	KRT5	51197980	1.000000	0.71417	0.984000	0.44739	0.948000	0.59901	7.651000	0.83577	1.432000	0.47375	0.561000	0.74099	GAG	-	KRT5	-	pfam_IF		0.433	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	0	0		63	63		0.00		C			52911713	-1	27		42		tier1	no_errors	ENST00000252242	ensembl	human	known	74_37	missense	39.13		SNP	1.000	T	27	42
GPR110	266977	genome.wustl.edu	37	6	46977164	46977164	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:46977164G>A	ENST00000371253.2	-	11	2222	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	GPR110_ENST00000283297.5_Silent_p.L472L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	669					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGAACAAAGAGAGGTAGAAGA	0.498													ENSG00000153292																																					0													89.0	78.0	82.0					6																	46977164		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2007C>T	6.37:g.46977164G>A			Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.L669	ENST00000371253.2	37	c.2007	CCDS34471.1	6																																																																																			-	GPR110	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.498	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	0	0		34	34		0.00		G	NM_153840		46977164	-1	3		20		tier1	no_errors	ENST00000371253	ensembl	human	known	74_37	silent	13.04		SNP	0.867	A	3	20
SIRT1	23411	genome.wustl.edu	37	10	69648754	69648754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:69648754G>A	ENST00000212015.6	+	3	715	c.662G>A	c.(661-663)tGg>tAg	p.W221*	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron|SIRT1_ENST00000406900.1_5'Flank	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	221	Interaction with CCAR2.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATGACACTGTGGCAGATTGTT	0.353													ENSG00000096717																																					0													76.0	74.0	75.0					10																	69648754		2203	4300	6503	SO:0001587	stop_gained	0			-	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.662G>A	10.37:g.69648754G>A	ENSP00000212015:p.Trp221*		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Nonsense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.W221*	ENST00000212015.6	37	c.662	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.865243	0.97043	.	.	ENSG00000096717	ENST00000212015	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0053	19.2325	0.93846	0.0:0.0:1.0:0.0	.	.	.	.	X	221	.	ENSP00000212015:W221X	W	+	2	0	SIRT1	69318760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.639000	0.89480	0.655000	0.94253	TGG	-	SIRT1	-	NULL		0.353	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	0	0		101	101		0.00		G			69648754	+1	22		64		tier1	no_errors	ENST00000212015	ensembl	human	known	74_37	nonsense	25.29		SNP	1.000	A	22	64
ATG13	9776	genome.wustl.edu	37	11	46689388	46689388	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:46689388C>T	ENST00000434074.1	+	13	1792	c.1103C>T	c.(1102-1104)aCc>aTc	p.T368I	ATG13_ENST00000451945.1_Missense_Mutation_p.T331I|ATG13_ENST00000528494.1_Missense_Mutation_p.T401I|ATG13_ENST00000526508.1_Missense_Mutation_p.T368I|ATG13_ENST00000359513.4_Missense_Mutation_p.T368I|ATG13_ENST00000524625.1_Missense_Mutation_p.T331I|ATG13_ENST00000529655.1_Missense_Mutation_p.T331I|ATG13_ENST00000530500.1_Missense_Mutation_p.T252I|ATG13_ENST00000312040.4_Missense_Mutation_p.T368I	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	368					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GTCTTGGAGACCATCTTTGTC	0.478													ENSG00000175224																																					0													98.0	84.0	89.0					11																	46689388		2201	4299	6500	SO:0001583	missense	0			-	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1103C>T	11.37:g.46689388C>T	ENSP00000400642:p.Thr368Ile		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	pfam_Autophagy-rel_p13	p.T368I	ENST00000434074.1	37	c.1103	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503928	0.85176	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	6.07	6.07	0.98685	.	0.364704	0.34802	N	0.003661	T	0.43743	0.1261	N	0.19112	0.55	0.37513	D	0.917215	B;B;B;B	0.25235	0.059;0.121;0.072;0.012	B;B;B;B	0.19946	0.008;0.018;0.018;0.027	T	0.46289	-0.9202	9	0.56958	D	0.05	-15.6759	13.7909	0.63140	0.0:0.9305:0.0:0.0695	.	252;368;401;331	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	I	331;368;368;331;331;252;368;331;368;401;100	.	ENSP00000310321:T368I	T	+	2	0	ATG13	46645964	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.610000	0.61155	2.884000	0.98904	0.655000	0.94253	ACC	-	ATG13	-	NULL		0.478	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2	0	0		79	79		0.00		C	NM_014741		46689388	+1	41		60		tier1	no_errors	ENST00000312040	ensembl	human	known	74_37	missense	40.59		SNP	1.000	T	41	60
FASTK	10922	genome.wustl.edu	37	7	150776010	150776010	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150776010C>T	ENST00000297532.6	-	3	681	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.G61S|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Splice_Site_p.E202K	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	202					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCTTGCCCACCTCGGAGAAGG	0.617													ENSG00000164896																																					0													26.0	25.0	25.0					7																	150776010		2201	4299	6500	SO:0001583	missense	0			-		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.604G>A	7.37:g.150776010C>T	ENSP00000297532:p.Gly202Ser		A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.G202S	ENST00000297532.6	37	c.604	CCDS5918.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.376063|2.376063	0.42105|0.42105	.|.	.|.	ENSG00000164896|ENSG00000164896	ENST00000482571|ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532	T|T;T	0.31510|0.28069	1.49|1.63;1.87	4.31|4.31	4.31|4.31	0.51392|0.51392	.|.	.|0.114423	.|0.35585	.|N	.|0.003103	T|T	0.32793|0.32793	0.0841|0.0841	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|D;D	0.61697|0.89917	0.99|1.0;1.0	P|D;D	0.55999|0.85130	0.789|0.997;0.986	T|T	0.20207|0.20207	-1.0282|-1.0282	9|10	0.07990|0.33940	T|T	0.79|0.23	-1.4014|-1.4014	13.0314|13.0314	0.58845|0.58845	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	202|61;202	F8VTW9|Q8IVA0;Q14296	.|.;FASTK_HUMAN	K|S	202|202;202;61;202	ENSP00000418516:E202K|ENSP00000324817:G61S;ENSP00000297532:G202S	ENSP00000418516:E202K|ENSP00000297530:G202S	E|G	-|-	1|1	0|0	FASTK|FASTK	150406943|150406943	0.808000|0.808000	0.29022|0.29022	0.936000|0.936000	0.37596|0.37596	0.730000|0.730000	0.41778|0.41778	2.057000|2.057000	0.41365|0.41365	2.324000|2.324000	0.78689|0.78689	0.655000|0.655000	0.94253|0.94253	GAG|GGT	-	FASTK	-	NULL		0.617	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTK	HGNC	protein_coding	OTTHUMT00000351832.2	0	0		49	49		0.00		C	NM_006712		150776010	-1	38		50		tier1	no_errors	ENST00000297532	ensembl	human	known	74_37	missense	43.18		SNP	0.987	T	38	50
NDST4	64579	genome.wustl.edu	37	4	115997550	115997550	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:115997550G>A	ENST00000264363.2	-	2	1321	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	215	Heparan sulfate N-deacetylase 4.				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)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCCCAGGAAGAGGGCCTTTC	0.408													ENSG00000138653																																					0													73.0	74.0	74.0					4																	115997550		2203	4300	6503	SO:0001583	missense	0			-	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.643C>T	4.37:g.115997550G>A	ENSP00000264363:p.Leu215Phe		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L215F	ENST00000264363.2	37	c.643	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551446	0.65311	.	.	ENSG00000138653	ENST00000264363	T	0.42513	0.97	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.91140	3.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.77395	-0.2604	10	0.87932	D	0	.	13.1949	0.59732	0.0762:0.0:0.9238:0.0	.	215	Q9H3R1	NDST4_HUMAN	F	215	ENSP00000264363:L215F	ENSP00000264363:L215F	L	-	1	0	NDST4	116216999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.117000	0.57877	2.437000	0.82529	0.591000	0.81541	CTT	-	NDST4	-	pfam_Heparan_SO4_deacetylase		0.408	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	0	0		46	46		0.00		G	NM_022569		115997550	-1	14		31		tier1	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	31.11		SNP	1.000	A	14	31
CAPZA3	93661	genome.wustl.edu	37	12	18889211	18889211	+	5'Flank	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:18889211A>G	ENST00000317658.3	+	0	0				RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_Silent_p.L27L|PLCZ1_ENST00000435379.1_Silent_p.L25L|PLCZ1_ENST00000539875.1_Silent_p.L27L|PLCZ1_ENST00000447925.2_Silent_p.L25L	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TTTTCAAGTAACCTCTGAGTT	0.363													ENSG00000139151																																					0													89.0	90.0	90.0					12																	18889211		2203	4300	6503	SO:0001631	upstream_gene_variant	0			-	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889211A>G	Exception_encountered		Q969J0	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,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,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L27	ENST00000317658.3	37	c.79	CCDS8681.1	12																																																																																			-	PLCZ1	-	NULL		0.363	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401902.1	0	0		109	109		0.00		A	NM_033328		18889211	-1	54		56		tier1	no_errors	ENST00000266505	ensembl	human	known	74_37	silent	49.09		SNP	0.956	G	54	56
JUP	3728	genome.wustl.edu	37	17	39925777	39925777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39925777G>A	ENST00000393931.3	-	3	479	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	JUP_ENST00000393930.1_Nonsense_Mutation_p.Q121*|JUP_ENST00000310706.5_Nonsense_Mutation_p.Q121*|JUP_ENST00000540235.1_Nonsense_Mutation_p.Q121*	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	121					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGAGCAGCTGGGACGGCTCG	0.652													ENSG00000173801																									Colon(16;42 520 6044 17852 28530)												0													34.0	31.0	32.0					17																	39925777		2203	4300	6503	SO:0001587	stop_gained	0			-	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.361C>T	17.37:g.39925777G>A	ENSP00000377508:p.Gln121*		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.Q121*	ENST00000393931.3	37	c.361	CCDS11407.1	17	.	.	.	.	.	.	.	.	.	.	g	30	5.055913	0.93793	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457	.	.	.	5.52	5.52	0.82312	.	0.056652	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-29.7004	18.4331	0.90633	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000311113:Q121X	Q	-	1	0	JUP	37179303	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	9.857000	0.99534	2.593000	0.87608	0.556000	0.70494	CAG	-	JUP	-	prints_Beta-catenin		0.652	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	0	0		63	63		0.00		G			39925777	-1	35		57		tier1	no_errors	ENST00000310706	ensembl	human	known	74_37	nonsense	37.63		SNP	1.000	A	35	57
CPNE4	131034	genome.wustl.edu	37	3	131261457	131261457	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:131261457C>T	ENST00000512055.1	-	19	3609	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	CPNE4_ENST00000429747.1_Missense_Mutation_p.G495R|CPNE4_ENST00000512332.1_Missense_Mutation_p.G513R|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495R|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513R			Q96A23	CPNE4_HUMAN	copine IV	495	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACAGGCTCTCCCTTGGGTGAC	0.517													ENSG00000196353																																					0													161.0	140.0	147.0					3																	131261457		2203	4300	6503	SO:0001583	missense	0			-	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1483G>A	3.37:g.131261457C>T	ENSP00000421705:p.Gly495Arg		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.G513R	ENST00000512055.1	37	c.1537	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.075831	0.94000	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.994	T	0.75569	-0.3272	10	0.87932	D	0	-12.4331	19.5825	0.95473	0.0:1.0:0.0:0.0	.	513;495	Q96A23-2;Q96A23	.;CPNE4_HUMAN	R	495;495;513;495;513	ENSP00000421705:G495R;ENSP00000411904:G495R;ENSP00000424853:G513R;ENSP00000423811:G495R;ENSP00000421646:G513R	ENSP00000411904:G495R	G	-	1	0	CPNE4	132744147	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.624000	0.88883	0.655000	0.94253	GGA	-	CPNE4	-	smart_VWF_A		0.517	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	0	0		52	52		0.00		C	NM_130808		131261457	-1	33		51		tier1	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	39.29		SNP	1.000	T	33	51
LRRC24	441381	genome.wustl.edu	37	8	145749572	145749572	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145749572G>A	ENST00000529415.2	-	4	646	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	LRRC14_ENST00000528528.1_Intron|LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.L174F			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	177						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(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)			TTCCTGCTGAGGTCCAGCAGT	0.612													ENSG00000254402																																					0													77.0	81.0	79.0					8																	145749572		2202	4300	6502	SO:0001583	missense	0			-	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.529C>T	8.37:g.145749572G>A	ENSP00000434849:p.Leu177Phe			Missense_Mutation	SNP	pfam_Ig_I-set,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.L177F	ENST00000529415.2	37	c.529	CCDS34969.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466278	0.84425	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.76186	-1.0;-1.0	4.55	4.55	0.56014	.	0.074222	0.53938	D	0.000052	D	0.85835	0.5789	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.87748	0.2590	10	0.87932	D	0	.	12.6709	0.56866	0.0:0.0:1.0:0.0	.	174;177	G3V1D8;Q50LG9	.;LRC24_HUMAN	F	177;174	ENSP00000434849:L177F;ENSP00000435653:L174F	ENSP00000434849:L177F	L	-	1	0	LRRC24	145720380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.405000	0.66351	2.350000	0.79820	0.561000	0.74099	CTC	-	LRRC24	-	smart_Leu-rich_rpt_typical-subtyp		0.612	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	HGNC	protein_coding	OTTHUMT00000382501.2	0	0		19	19		0.00		G	NM_001024678		145749572	-1	12		12		tier1	no_errors	ENST00000529415	ensembl	human	known	74_37	missense	50.00		SNP	1.000	A	12	12
OR6Y1	391112	genome.wustl.edu	37	1	158517681	158517681	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:158517681G>A	ENST00000302617.3	-	1	214	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTCCAGGAAGGAGAGGTGGCT	0.468													ENSG00000197532																																					0													92.0	86.0	88.0					1																	158517681		2202	4300	6502	SO:0001583	missense	0			-	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.215C>T	1.37:g.158517681G>A	ENSP00000304807:p.Ser72Phe		Q6IFS0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S72F	ENST00000302617.3	37	c.215	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402831	0.62288	.	.	ENSG00000197532	ENST00000302617	T	0.12361	2.69	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000869	T	0.41650	0.1168	M	0.93978	3.48	0.32728	N	0.509329	D	0.89917	1.0	D	0.91635	0.999	T	0.56643	-0.7945	10	0.87932	D	0	.	17.3869	0.87418	0.0:0.0:1.0:0.0	.	72	Q8NGX8	OR6Y1_HUMAN	F	72	ENSP00000304807:S72F	ENSP00000304807:S72F	S	-	2	0	OR6Y1	156784305	0.684000	0.27642	0.642000	0.29436	0.965000	0.64279	3.665000	0.54532	2.695000	0.91970	0.563000	0.77884	TCC	-	OR6Y1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	0	0		34	34		0.00		G	NM_001005189		158517681	-1	8		44		tier1	no_errors	ENST00000302617	ensembl	human	known	74_37	missense	15.38		SNP	0.688	A	8	44
B3GALNT1	8706	genome.wustl.edu	37	3	160803877	160803877	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:160803877G>A	ENST00000392781.2	-	8	1413	c.666C>T	c.(664-666)acC>acT	p.T222T	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392779.2_Silent_p.T222T|B3GALNT1_ENST00000473285.1_Silent_p.T222T|B3GALNT1_ENST00000392780.1_Silent_p.T222T|B3GALNT1_ENST00000320474.4_Silent_p.T222T|B3GALNT1_ENST00000488170.1_Silent_p.T222T	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	222					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AAGAAATATGGGTTTTTTGGT	0.358													ENSG00000169255																																					0													36.0	37.0	37.0					3																	160803877		2201	4295	6496	SO:0001819	synonymous_variant	0			-	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.666C>T	3.37:g.160803877G>A			D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Silent	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.T222	ENST00000392781.2	37	c.666	CCDS3193.1	3																																																																																			-	B3GALNT1	-	pfam_Glyco_trans_31,pfam_Fringe-like		0.358	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GALNT1	HGNC	protein_coding	OTTHUMT00000353125.1	0	0		88	88		0.00		G	NM_033167		160803877	-1	25		86		tier1	no_errors	ENST00000320474	ensembl	human	known	74_37	silent	22.52		SNP	0.220	A	25	86
KRTAP23-1	337963	genome.wustl.edu	37	21	31720836	31720836	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:31720836G>A	ENST00000334160.4	-	1	88	c.89C>T	c.(88-90)tCg>tTg	p.S30L		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	30						intermediate filament (GO:0005882)				large_intestine(1)|lung(4)|prostate(1)	6						GCTGGGGTACGAGGAGCCACC	0.562													ENSG00000186980																																					0													126.0	105.0	113.0					21																	31720836		2203	4300	6503	SO:0001583	missense	0			-	AP001708	CCDS33533.1	21q22.1	2008-05-21			ENSG00000186980	ENSG00000186980		"""Keratin associated proteins"""	18928	protein-coding gene	gene with protein product						12359730	Standard	NM_181624		Approved	KAP23.1	uc002yny.1	A1A580	OTTHUMG00000057792	ENST00000334160.4:c.89C>T	21.37:g.31720836G>A	ENSP00000346536:p.Ser30Leu			Missense_Mutation	SNP	pfam_KRTAP_PMG	p.S30L	ENST00000334160.4	37	c.89	CCDS33533.1	21	.	.	.	.	.	.	.	.	.	.	G	8.266	0.812356	0.16537	.	.	ENSG00000186980	ENST00000334160	T	0.02837	4.14	3.93	-0.472	0.12115	.	.	.	.	.	T	0.01835	0.0058	.	.	.	0.09310	N	1	P	0.38300	0.626	B	0.27608	0.081	T	0.45760	-0.9239	8	0.87932	D	0	.	3.7545	0.08579	0.333:0.1855:0.4815:0.0	.	30	A1A580	KR231_HUMAN	L	30	ENSP00000346536:S30L	ENSP00000346536:S30L	S	-	2	0	KRTAP23-1	30642707	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.587000	0.05780	0.063000	0.16370	0.655000	0.94253	TCG	-	KRTAP23-1	-	pfam_KRTAP_PMG		0.562	KRTAP23-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP23-1	HGNC	protein_coding	OTTHUMT00000128244.4	0	0		50	50		0.00		G			31720836	-1	10		55		tier1	no_errors	ENST00000334160	ensembl	human	known	74_37	missense	15.38		SNP	0.000	A	10	55
TTLL1	25809	genome.wustl.edu	37	22	43459917	43459917	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:43459917C>T	ENST00000266254.7	-	7	889	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	TTLL1_ENST00000331018.7_Missense_Mutation_p.G217R	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	217	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CGGCAAAACCCAAGCTTGTAC	0.453													ENSG00000100271																																					0													186.0	176.0	179.0					22																	43459917		2203	4300	6503	SO:0001583	missense	0			-	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.649G>A	22.37:g.43459917C>T	ENSP00000266254:p.Gly217Arg		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.G217R	ENST00000266254.7	37	c.649	CCDS14043.1	22	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020201	0.93462	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.09350	2.99;2.99	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77485	-0.2570	10	0.87932	D	0	.	18.6172	0.91306	0.0:1.0:0.0:0.0	.	217;217	O95922-4;O95922	.;TTLL1_HUMAN	R	217	ENSP00000333734:G217R;ENSP00000266254:G217R	ENSP00000266254:G217R	G	-	1	0	TTLL1	41789861	1.000000	0.71417	0.892000	0.35008	0.942000	0.58702	7.458000	0.80787	2.837000	0.97791	0.591000	0.81541	GGG	-	TTLL1	-	pfam_TTL/TTLL_fam		0.453	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	0	0		58	58		0.00		C	NM_012263		43459917	-1	41		51		tier1	no_errors	ENST00000266254	ensembl	human	known	74_37	missense	44.57		SNP	1.000	T	41	51
DCLRE1B	64858	genome.wustl.edu	37	1	114449770	114449770	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114449770C>T	ENST00000369563.3	+	2	788	c.342C>T	c.(340-342)acC>acT	p.T114T	AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank|DCLRE1B_ENST00000466480.1_Intron|AP4B1_ENST00000256658.4_5'Flank|AP4B1_ENST00000369569.1_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	114					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		ATTTTGGAACCATCCTCTACA	0.398								Other identified genes with known or suspected DNA repair function					ENSG00000118655																																					0													134.0	126.0	129.0					1																	114449770		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.342C>T	1.37:g.114449770C>T			Q9H9E5	Silent	SNP	pfam_DRMBL	p.T114	ENST00000369563.3	37	c.342	CCDS866.1	1																																																																																			-	DCLRE1B	-	NULL		0.398	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	0	0		58	58		0.00		C	NM_022836		114449770	+1	12		49		tier1	no_errors	ENST00000369563	ensembl	human	known	74_37	silent	19.67		SNP	1.000	T	12	49
PGBD3	267004	genome.wustl.edu	37	10	50724596	50724596	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:50724596G>A	ENST00000374127.3	-	2	766	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	ERCC6-PGBD3_ENST00000515869.1_Silent_p.L657L|PGBD3_ENST00000508005.2_Silent_p.L189L|PGBD3_ENST00000603152.1_Silent_p.L657L|ERCC6-PGBD3_ENST00000447839.2_Silent_p.L657L|ERCC6_ENST00000355832.5_Intron	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	189										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TAACCACTCAGAAAAATAATT	0.403													ENSG00000243251																																					0													69.0	74.0	72.0					10																	50724596		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.565C>T	10.37:g.50724596G>A			B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	NULL	p.L657	ENST00000374127.3	37	c.1969	CCDS7230.1	10																																																																																			-	PGBD3	-	NULL		0.403	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	HGNC	protein_coding	OTTHUMT00000047988.1	0	0		35	35		0.00		G			50724596	-1	18		28		tier1	no_errors	ENST00000603152	ensembl	human	known	74_37	silent	39.13		SNP	0.447	A	18	28
PRPH	5630	genome.wustl.edu	37	12	49690334	49690334	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:49690334C>T	ENST00000257860.4	+	3	2201				RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin						cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GTATCAGGGGCGGTTTCTGAG	0.612											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000258334																																					0													44.0	44.0	44.0					12																	49690334		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.702+24C>T	12.37:g.49690334C>T		964	Q5TFH5|Q6DK65	R	SNP	-	NULL	ENST00000257860.4	37	NULL	CCDS8783.1	12																																																																																			-	RP11-161H23.9	-	-		0.612	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927267	Clone_based_vega_gene	protein_coding	OTTHUMT00000393381.1	0	0		37	37		0.00		C	NM_006262		49690334	-1	9		36		tier1	no_errors	ENST00000553259	ensembl	human	known	74_37	rna	20.00		SNP	0.000	T	9	36
IL1B	3553	genome.wustl.edu	37	2	113590873	113590873	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:113590873G>A	ENST00000263341.2	-	4	512				IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta						activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	TTGGCTCTGGGGGAATTGAGT	0.468													ENSG00000125538																																					0																																										SO:0001627	intron_variant	0			-	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.301+77C>T	2.37:g.113590873G>A			Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	R	SNP	-	NULL	ENST00000263341.2	37	NULL	CCDS2102.1	2																																																																																			-	IL1B	-	-		0.468	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1B	HGNC	protein_coding	OTTHUMT00000254125.2	0	0		34	34		0.00		G	NM_000576		113590873	-1	7		10		tier1	no_errors	ENST00000491056	ensembl	human	known	74_37	rna	41.18		SNP	0.021	A	7	10
LCK	3932	genome.wustl.edu	37	1	32742050	32742050	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:32742050G>A	ENST00000336890.5	+	8	882	c.744G>A	c.(742-744)gtG>gtA	p.V248V	LCK_ENST00000333070.4_Silent_p.V248V|LCK_ENST00000373564.3_Intron	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	TGAAGCTGGTGGAGCGGCTGG	0.677			T	TRB@	T-ALL								ENSG00000182866																												Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													52.0	64.0	60.0					1																	32742050		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.744G>A	1.37:g.32742050G>A			D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.V248	ENST00000336890.5	37	c.744	CCDS359.1	1																																																																																			-	LCK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	HGNC	protein_coding	OTTHUMT00000019616.4	0	0		109	109		0.00		G	NM_005356		32742050	+1	26		145		tier1	no_errors	ENST00000333070	ensembl	human	known	74_37	silent	15.12		SNP	1.000	A	26	145
OBSCN	84033	genome.wustl.edu	37	1	228506686	228506686	+	Missense_Mutation	SNP	C	C	T	rs570545660		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228506686C>T	ENST00000422127.1	+	54	14277	c.14233C>T	c.(14233-14235)Cgg>Tgg	p.R4745W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5702W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1864W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2379W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4745W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4745					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCCTGGCTCGGAAACGTCG	0.687													ENSG00000154358																																					0													17.0	20.0	19.0					1																	228506686		2188	4278	6466	SO:0001583	missense	0			-	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14233C>T	1.37:g.228506686C>T	ENSP00000409493:p.Arg4745Trp		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R4745W	ENST00000422127.1	37	c.14233	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466374	0.63625	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.65364	0.26;-0.15;-0.09;0.41	4.03	1.89	0.25635	.	0.207897	0.29139	N	0.013029	T	0.61702	0.2368	N	0.24115	0.695	0.31729	N	0.637237	D;D	0.76494	0.999;0.999	P;D	0.65140	0.857;0.932	T	0.66520	-0.5903	10	0.62326	D	0.03	.	10.3422	0.43884	0.6289:0.3711:0.0:0.0	.	4745;4745	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4745;4745;2379;1864	ENSP00000284548:R4745W;ENSP00000409493:R4745W;ENSP00000355668:R2379W;ENSP00000355670:R1864W	ENSP00000284548:R4745W	R	+	1	2	OBSCN	226573309	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	5.230000	0.65321	0.882000	0.36016	0.313000	0.20887	CGG	-	OBSCN	-	NULL		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		0	0		18	18		0.00		C	NM_052843		228506686	+1	9		13		tier1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	40.91		SNP	1.000	T	9	13
HEPH	9843	genome.wustl.edu	37	X	65390509	65390509	+	Missense_Mutation	SNP	C	C	T	rs201897918		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:65390509C>T	ENST00000343002.2	+	1	761	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	HEPH_ENST00000374727.3_Missense_Mutation_p.R36W|HEPH_ENST00000519389.1_Missense_Mutation_p.R87W|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000419594.1_Missense_Mutation_p.R36W|HEPH_ENST00000441993.2_Missense_Mutation_p.R36W			Q9BQS7	HEPH_HUMAN	hephaestin	33	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTGGGCATCCGGGATGTGCA	0.532													ENSG00000089472																																					0													96.0	66.0	76.0					X																	65390509		2203	4300	6503	SO:0001583	missense	0			-	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.97C>T	X.37:g.65390509C>T	ENSP00000343939:p.Arg33Trp		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.R87W	ENST00000343002.2	37	c.259		X	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920180	0.52653	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.01	5.01	0.66863	Cupredoxin (2);	0.969671	0.08495	N	0.937426	D	0.98093	0.9371	L	0.54323	1.7	0.21147	N	0.999774	D;P;D	0.62365	0.991;0.912;0.977	P;B;P	0.44860	0.462;0.17;0.462	D	0.94714	0.7895	10	0.66056	D	0.02	.	13.9431	0.64069	0.0:1.0:0.0:0.0	.	87;36;33	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	W	87;36;33;36;36;33;33	ENSP00000430620:R87W;ENSP00000363859:R36W;ENSP00000396907:R33W;ENSP00000411687:R36W;ENSP00000413211:R36W;ENSP00000343939:R33W;ENSP00000398078:R33W	ENSP00000343939:R33W	R	+	1	2	HEPH	65307234	0.780000	0.28664	0.802000	0.32245	0.953000	0.61014	1.790000	0.38734	2.308000	0.77769	0.513000	0.50165	CGG	rs201897918	HEPH	-	superfamily_Cupredoxin		0.532	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	0	0		31	31		0.00		C	NM_138737		65390509	+1	7		19		tier1	no_errors	ENST00000519389	ensembl	human	known	74_37	missense	26.92		SNP	0.795	T	7	19
ASNS	440	genome.wustl.edu	37	7	97487649	97487649	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:97487649G>A	ENST00000394309.3	-	7	1315	c.844C>T	c.(844-846)Cct>Tct	p.P282S	ASNS_ENST00000455086.1_Missense_Mutation_p.P199S|ASNS_ENST00000175506.4_Missense_Mutation_p.P282S|ASNS_ENST00000444334.1_Missense_Mutation_p.P261S|ASNS_ENST00000437628.1_Missense_Mutation_p.P199S|ASNS_ENST00000394308.3_Missense_Mutation_p.P282S|ASNS_ENST00000422745.1_Missense_Mutation_p.P261S	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	282	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTCTGGAGAGGATACTGTACT	0.493													ENSG00000070669																									Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													97.0	84.0	88.0					7																	97487649		2203	4300	6503	SO:0001583	missense	0			-	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.844C>T	7.37:g.97487649G>A	ENSP00000377846:p.Pro282Ser		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.P282S	ENST00000394309.3	37	c.844	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091226	0.36855	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.37	-2.59	0.06209	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.291142	0.39210	N	0.001435	T	0.45994	0.1370	M	0.75150	2.29	0.43351	D	0.995414	B	0.23316	0.083	B	0.35727	0.209	T	0.37934	-0.9684	10	0.72032	D	0.01	-3.2111	6.5164	0.22250	0.0783:0.4832:0.3152:0.1233	.	282	P08243	ASNS_HUMAN	S	282;282;199;282;261;199;261	ENSP00000175506:P282S;ENSP00000377846:P282S;ENSP00000414379:P199S;ENSP00000377845:P282S;ENSP00000414901:P261S;ENSP00000408472:P199S;ENSP00000406994:P261S	ENSP00000175506:P282S	P	-	1	0	ASNS	97325585	0.989000	0.36119	0.178000	0.23040	0.925000	0.55904	0.897000	0.28390	-0.391000	0.07763	-1.121000	0.02013	CCT	-	ASNS	-	pfam_Asn_synthase,tigrfam_Asn_synth_AEB		0.493	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	0	0		58	58		0.00		G	NM_001673, NM_183356		97487649	-1	8		58		tier1	no_errors	ENST00000175506	ensembl	human	known	74_37	missense	12.12		SNP	0.367	A	8	58
TAOK2	9344	genome.wustl.edu	37	16	29997004	29997004	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:29997004C>T	ENST00000308893.4	+	15	2857	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	TAOK2_ENST00000543033.1_Missense_Mutation_p.P605L|TAOK2_ENST00000416441.2_Missense_Mutation_p.P432L|TAOK2_ENST00000279394.3_Missense_Mutation_p.P605L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	605					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCAGCACTCCCAAGCGGGAG	0.697													ENSG00000149930																																					0													14.0	14.0	14.0					16																	29997004		2194	4292	6486	SO:0001583	missense	0			-	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1814C>T	16.37:g.29997004C>T	ENSP00000310094:p.Pro605Leu		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.P605L	ENST00000308893.4	37	c.1814	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995855	0.93167	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T;T	0.45668	2.7;0.89;0.89;0.89	5.05	5.05	0.67936	.	0.059674	0.64402	D	0.000002	T	0.68824	0.3043	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.999;0.999;0.999	T	0.73388	-0.3998	9	.	.	.	.	17.2	0.86903	0.0:1.0:0.0:0.0	.	796;432;605;605;605	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	L	605	ENSP00000393048:P605L;ENSP00000310094:P605L;ENSP00000440336:P605L;ENSP00000279394:P605L	.	P	+	2	0	TAOK2	29904505	1.000000	0.71417	0.993000	0.49108	0.968000	0.65278	7.818000	0.86416	2.357000	0.79964	0.557000	0.71058	CCC	-	TAOK2	-	NULL		0.697	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	0	0		38	38		0.00		C	NM_016151		29997004	+1	29		32		tier1	no_errors	ENST00000308893	ensembl	human	known	74_37	missense	47.54		SNP	1.000	T	29	32
RIT1	6016	genome.wustl.edu	37	1	155874290	155874290	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155874290C>T	ENST00000368323.3	-	5	445	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RIT1_ENST00000368322.3_Missense_Mutation_p.E98K|RIT1_ENST00000539040.1_Missense_Mutation_p.E45K	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	81			E -> G (in NS8; results in increased ELK1 transcriptional activation). {ECO:0000269|PubMed:23791108}.		GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GCTGTAAACTCTGCCTAGAGG	0.428													ENSG00000143622																																					0													73.0	62.0	66.0					1																	155874290		2203	4300	6503	SO:0001583	missense	0			-	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.241G>A	1.37:g.155874290C>T	ENSP00000357306:p.Glu81Lys		B4DQE8|O00646|O00720|Q5VY89|Q5VY90	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.E98K	ENST00000368323.3	37	c.292	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.278538	0.95459	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.77489	-1.1;-1.1;-1.1	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	P	0.59357	0.856	D	0.83829	0.0251	10	0.87932	D	0	.	19.5715	0.95421	0.0:1.0:0.0:0.0	.	81	Q92963	RIT1_HUMAN	K	81;45;98	ENSP00000357306:E81K;ENSP00000441950:E45K;ENSP00000357305:E98K	ENSP00000357305:E98K	E	-	1	0	RIT1	154140914	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.346000	0.72999	2.733000	0.93635	0.467000	0.42956	GAG	-	RIT1	-	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		0.428	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	0	0		51	51		0.00		C	NM_006912		155874290	-1	30		39		tier1	no_errors	ENST00000368322	ensembl	human	known	74_37	missense	43.48		SNP	1.000	T	30	39
CTNNA3	29119	genome.wustl.edu	37	10	68139051	68139051	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:68139051C>T	ENST00000433211.2	-	12	1765	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D531N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTAAATTATCAGCATCCTGG	0.463													ENSG00000183230																																					0													123.0	122.0	122.0					10																	68139051		2203	4300	6503	SO:0001583	missense	0			-	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1591G>A	10.37:g.68139051C>T	ENSP00000389714:p.Asp531Asn			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.D531N	ENST00000433211.2	37	c.1591	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910711	0.92107	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37235	1.21;1.21	5.77	5.77	0.91146	.	0.216900	0.31210	N	0.008057	T	0.50446	0.1616	M	0.75085	2.285	0.80722	D	1	P	0.40578	0.722	P	0.46510	0.519	T	0.48258	-0.9051	10	0.46703	T	0.11	-11.3642	17.477	0.87661	0.0:1.0:0.0:0.0	.	531	Q9UI47	CTNA3_HUMAN	N	531	ENSP00000389714:D531N;ENSP00000362849:D531N	ENSP00000362849:D531N	D	-	1	0	CTNNA3	67809057	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.792000	0.85828	2.728000	0.93425	0.650000	0.86243	GAT	-	CTN3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.463	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTN3	HGNC	protein_coding	OTTHUMT00000048282.2	0	0		65	65		0.00		C	NM_013266		68139051	-1	13		48		tier1	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	21.31		SNP	1.000	T	13	48
KDM3A	55818	genome.wustl.edu	37	2	86693706	86693706	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:86693706C>T	ENST00000409556.1	+	11	1584	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	KDM3A_ENST00000312912.5_Missense_Mutation_p.P407S|KDM3A_ENST00000542128.1_Missense_Mutation_p.P355S|KDM3A_ENST00000409064.1_Missense_Mutation_p.P407S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	407					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGAGTCTGTTCCACAAGCATT	0.453													ENSG00000115548																									NSCLC(96;1150 1523 6936 46253 49736)												0													159.0	146.0	151.0					2																	86693706		2203	4300	6503	SO:0001583	missense	0			-	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1219C>T	2.37:g.86693706C>T	ENSP00000386660:p.Pro407Ser		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P407S	ENST00000409556.1	37	c.1219	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	5.542	0.284851	0.10513	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.81	1.38	0.22167	.	0.582083	0.16633	N	0.205965	T	0.23210	0.0561	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.16364	-1.0405	10	0.10636	T	0.68	.	3.596	0.08006	0.2227:0.5144:0.1104:0.1524	.	355;407	F5H070;Q9Y4C1	.;KDM3A_HUMAN	S	407;407;407;407;355	ENSP00000386660:P407S;ENSP00000323659:P407S;ENSP00000386516:P407S;ENSP00000438324:P355S	ENSP00000323659:P407S	P	+	1	0	KDM3A	86547217	0.000000	0.05858	0.027000	0.17364	0.943000	0.58893	-0.516000	0.06282	0.287000	0.22375	-0.251000	0.11542	CCA	-	KDM3A	-	NULL		0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	0	0		57	57		0.00		C	NM_018433		86693706	+1	35		67		tier1	no_errors	ENST00000312912	ensembl	human	known	74_37	missense	34.31		SNP	0.000	T	35	67
ACTR5	79913	genome.wustl.edu	37	20	37400341	37400341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:37400341delG	ENST00000243903.4	+	9	1743	c.1706delG	c.(1705-1707)tgtfs	p.C569fs		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	569					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AAGGAGCACTGTGCTTCCAAC	0.562													ENSG00000101442																																					0													85.0	69.0	75.0					20																	37400341		2203	4300	6503	SO:0001589	frameshift_variant	0				AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1706delG	20.37:g.37400341delG	ENSP00000243903:p.Cys569fs		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Frame_Shift_Del	DEL	pfam_Actin-related,smart_Actin-related	p.C569fs	ENST00000243903.4	37	c.1706	CCDS13308.1	20																																																																																				ACTR5	-	pfam_Actin-related,smart_Actin-related		0.562	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	0	0		22	22		0.00		G	NM_024855		37400341	+1	15		36		tier1	no_errors	ENST00000243903	ensembl	human	known	74_37	frame_shift_del	29.41		DEL	0.060	-	15	36
CDCA7	83879	genome.wustl.edu	37	2	174223548	174223548	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:174223548G>A	ENST00000347703.3	+	2	274	c.130G>A	c.(130-132)Gat>Aat	p.D44N	CDCA7_ENST00000306721.3_Missense_Mutation_p.D44N|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000392567.2_Missense_Mutation_p.D44N|CDCA7_ENST00000410101.3_Missense_Mutation_p.D44N|AC092573.2_ENST00000437243.1_RNA	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	44					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTTTGCTTCTGATAATTTTGC	0.398													ENSG00000144354																																					0													90.0	91.0	90.0					2																	174223548		2203	4300	6503	SO:0001583	missense	0			-	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.130G>A	2.37:g.174223548G>A	ENSP00000272789:p.Asp44Asn		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.D44N	ENST00000347703.3	37	c.130	CCDS2253.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350197	0.82132	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101	T;T;T;T	0.58506	0.52;0.43;0.68;0.33	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	L	0.36672	1.1	0.44643	D	0.997627	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.998	T	0.70547	-0.4842	10	0.59425	D	0.04	-25.2448	19.9981	0.97395	0.0:0.0:1.0:0.0	.	44;44;44	B4DV66;Q9BWT1;Q9BWT1-2	.;CDCA7_HUMAN;.	N	44	ENSP00000272789:D44N;ENSP00000376348:D44N;ENSP00000306968:D44N;ENSP00000386656:D44N	ENSP00000306968:D44N	D	+	1	0	CDCA7	173931794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.967000	0.76079	2.729000	0.93468	0.655000	0.94253	GAT	-	CDCA7	-	NULL		0.398	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7	HGNC	protein_coding	OTTHUMT00000255400.1	0	0		51	51		0.00		G	NM_031942		174223548	+1	22		44		tier1	no_errors	ENST00000306721	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	22	44
PTPN14	5784	genome.wustl.edu	37	1	214556693	214556693	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:214556693G>A	ENST00000366956.5	-	13	2699	c.2505C>T	c.(2503-2505)tcC>tcT	p.S835S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	835					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGTCTTCCAGGGAAAACATTT	0.517													ENSG00000152104																									Colon(92;557 1424 24372 34121 40073)												0													92.0	87.0	89.0					1																	214556693		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2505C>T	1.37:g.214556693G>A			Q5VSI0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,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.S835	ENST00000366956.5	37	c.2505	CCDS1514.1	1																																																																																			-	PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21		0.517	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	0	0		37	37		0.00		G	NM_005401		214556693	-1	25		29		tier1	no_errors	ENST00000366956	ensembl	human	known	74_37	silent	46.30		SNP	1.000	A	25	29
OR2M5	127059	genome.wustl.edu	37	1	248309347	248309347	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248309347G>A	ENST00000366476.1	+	1	898	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			GGTGACCAGAGCACTCAGGAA	0.463													ENSG00000162727																																					0													69.0	64.0	66.0					1																	248309347		2203	4300	6503	SO:0001583	missense	0			-		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.898G>A	1.37:g.248309347G>A	ENSP00000355432:p.Ala300Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A300T	ENST00000366476.1	37	c.898	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.474712	0.43942	.	.	ENSG00000162727	ENST00000366476	T	0.42131	0.98	3.01	2.07	0.26955	.	.	.	.	.	T	0.55737	0.1939	M	0.86502	2.82	0.09310	N	1	P	0.48764	0.915	P	0.49597	0.616	T	0.50423	-0.8830	9	0.72032	D	0.01	.	9.4753	0.38867	0.1134:0.0:0.8866:0.0	.	300	A3KFT3	OR2M5_HUMAN	T	300	ENSP00000355432:A300T	ENSP00000355432:A300T	A	+	1	0	OR2M5	246375970	0.000000	0.05858	0.047000	0.18901	0.140000	0.21249	-0.444000	0.06854	0.343000	0.23821	0.385000	0.25706	GCA	-	OR2M5	-	NULL		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	0	0		64	64		0.00		G	NM_001004690		248309347	+1	41		49		tier1	no_errors	ENST00000366476	ensembl	human	known	74_37	missense	45.56		SNP	0.010	A	41	49
HJURP	55355	genome.wustl.edu	37	2	234750475	234750475	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:234750475C>T	ENST00000411486.2	-	8	1016	c.951G>A	c.(949-951)caG>caA	p.Q317Q	HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Silent_p.Q263Q|HJURP_ENST00000441687.1_Silent_p.Q232Q	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	317					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.Q317H(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGGAGCTCCTCTGAGAACGTC	0.463													ENSG00000123485																																					1	Substitution - Missense(1)	lung(1)											63.0	64.0	64.0					2																	234750475		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.951G>A	2.37:g.234750475C>T			A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Silent	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.Q317	ENST00000411486.2	37	c.951	CCDS33406.1	2																																																																																			-	HJURP	-	pfam_HJURP		0.463	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6	0	0		52	52		0.00		C	NM_018410		234750475	-1	10		45		tier1	no_errors	ENST00000411486	ensembl	human	known	74_37	silent	18.18		SNP	0.000	T	10	45
COL24A1	255631	genome.wustl.edu	37	1	86590695	86590695	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:86590695C>T	ENST00000370571.2	-	3	1690	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	COL24A1_ENST00000436319.1_Missense_Mutation_p.D442N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	442					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)			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)		AGGTGATTATCCACAGATGGC	0.353													ENSG00000171502																																					0													127.0	109.0	115.0					1																	86590695		1867	4101	5968	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.1324G>A	1.37:g.86590695C>T	ENSP00000359603:p.Asp442Asn		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.D442N	ENST00000370571.2	37	c.1324	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	8.301	0.820033	0.16678	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.18960	2.18;2.18	5.45	2.24	0.28232	.	0.183171	0.26460	N	0.024246	T	0.04092	0.0114	N	0.24115	0.695	0.44890	D	0.997907	B;B	0.22683	0.073;0.004	B;B	0.25884	0.064;0.006	T	0.25117	-1.0141	10	0.17832	T	0.49	.	5.4727	0.16678	0.1435:0.6359:0.1387:0.0819	.	442;442	F8WDM8;Q17RW2	.;COOA1_HUMAN	N	442	ENSP00000359603:D442N;ENSP00000392531:D442N	ENSP00000359603:D442N	D	-	1	0	COL24A1	86363283	0.998000	0.40836	0.997000	0.53966	0.753000	0.42808	0.464000	0.21988	0.566000	0.29273	0.563000	0.77884	GAT	-	COL24A1	-	NULL		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	0	0		72	72		0.00		C	NM_152890		86590695	-1	21		37		tier1	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	35.00		SNP	0.998	T	21	37
RP1-274L7.1	0	genome.wustl.edu	37	X	129629474	129629474	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:129629474G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							GAATGTACCTGAAACATGGGA	0.398													ENSG00000221930																																					0													157.0	147.0	150.0					X																	129629474		2203	4300	6503			0			-																													X.37:g.129629474G>A				R	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			-	FAM45B	-	-		0.398	RP1-274L7.1-001	KNOWN	basic	lincRNA	FAM45B	HGNC	lincRNA	OTTHUMT00000058271.1	0	0		58	58		0.00		G			129629474	+1	24		44		tier1	no_errors	ENST00000592932	ensembl	human	known	74_37	rna	35.29		SNP	0.948	A	24	44
STRN4	29888	genome.wustl.edu	37	19	47231154	47231154	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:47231154C>T	ENST00000263280.6	-	8	1199	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	STRN4_ENST00000539396.1_Missense_Mutation_p.E265K|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Missense_Mutation_p.E384K	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	384						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTCTTACCTTCATGTGGCCGG	0.657													ENSG00000090372																																					0													28.0	32.0	31.0					19																	47231154		2203	4299	6502	SO:0001583	missense	0			-	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1150G>A	19.37:g.47231154C>T	ENSP00000263280:p.Glu384Lys		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E384K	ENST00000263280.6	37	c.1150	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126055	0.56721	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.67523	-0.27;-0.05;0.08	4.65	4.65	0.58169	.	0.062171	0.64402	D	0.000006	T	0.51770	0.1694	L	0.36672	1.1	0.80722	D	1	P;P	0.40970	0.649;0.734	B;B	0.36567	0.228;0.187	T	0.51965	-0.8638	10	0.08179	T	0.78	.	14.4706	0.67514	0.0:1.0:0.0:0.0	.	384;384	F8VYA6;Q9NRL3	.;STRN4_HUMAN	K	384;384;265	ENSP00000375777:E384K;ENSP00000263280:E384K;ENSP00000440901:E265K	ENSP00000263280:E384K	E	-	1	0	STRN4	51922994	0.982000	0.34865	0.995000	0.50966	0.970000	0.65996	2.402000	0.44521	2.121000	0.65114	0.561000	0.74099	GAA	-	STRN4	-	NULL		0.657	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	HGNC	protein_coding	OTTHUMT00000466607.2	0	0		50	50		0.00		C			47231154	-1	14		62		tier1	no_errors	ENST00000391910	ensembl	human	known	74_37	missense	18.42		SNP	0.999	T	14	62
NOP2	4839	genome.wustl.edu	37	12	6675465	6675465	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6675465C>T	ENST00000322166.5	-	5	397	c.276G>A	c.(274-276)aaG>aaA	p.K92K	NOP2_ENST00000545915.1_3'UTR|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Silent_p.K88K|NOP2_ENST00000382421.3_Silent_p.K92K|NOP2_ENST00000537442.1_Silent_p.K92K|NOP2_ENST00000540228.1_3'UTR|NOP2_ENST00000399466.2_Silent_p.K88K|NOP2_ENST00000541778.1_Silent_p.K88K	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	92					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTGGGGTCCCTTCTTACCAG	0.557													ENSG00000111641																																					0													35.0	36.0	36.0					12																	6675465		1946	4147	6093	SO:0001819	synonymous_variant	0			-		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.276G>A	12.37:g.6675465C>T			A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	NULL	p.R65K	ENST00000322166.5	37	c.194	CCDS58203.1	12																																																																																			-	NOP2	-	NULL		0.557	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	0	0		19	19		0.00		C	NM_006170		6675465	-1	10		11		tier1	no_errors	ENST00000538420	ensembl	human	known	74_37	missense	47.62		SNP	0.983	T	10	11
CSMD1	64478	genome.wustl.edu	37	8	3087633	3087633	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:3087633C>T	ENST00000520002.1	-	28	4832	c.4277G>A	c.(4276-4278)gGa>gAa	p.G1426E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1425E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1425E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1425E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1426E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1426E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1426E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1426	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTGGCTTGTCCTTGGAGCTG	0.493													ENSG00000183117																																					0													93.0	94.0	94.0					8																	3087633		1978	4165	6143	SO:0001583	missense	0			-			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4277G>A	8.37:g.3087633C>T	ENSP00000430733:p.Gly1426Glu		Q0H0J5|Q96QU9|Q96RM4	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.G1426E	ENST00000520002.1	37	c.4277		8	.	.	.	.	.	.	.	.	.	.	C	35	5.437589	0.96168	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	6.16	6.16	0.99307	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.91119	0.7204	H	0.98111	4.15	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	0.93089	0.6498	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1426;1426;1426	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	E	1426;1426;1288;1425;1425;1425	ENSP00000383047:G1426E;ENSP00000430733:G1426E;ENSP00000441462:G1425E;ENSP00000446243:G1425E;ENSP00000441675:G1425E	ENSP00000320445:G1288E	G	-	2	0	CSMD1	3075040	1.000000	0.71417	0.991000	0.47740	0.953000	0.61014	7.634000	0.83273	2.937000	0.99478	0.650000	0.86243	GGA	-	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	0	0		67	67		0.00		C	NM_033225		3087633	-1	36		60		tier1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	37.50		SNP	1.000	T	36	60
C19orf57	79173	genome.wustl.edu	37	19	14006231	14006231	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:14006231G>A	ENST00000586783.1	-	2	159	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	C19orf57_ENST00000591586.1_Missense_Mutation_p.P54S|C19orf57_ENST00000454313.1_Missense_Mutation_p.P54S|C19orf57_ENST00000346736.2_Missense_Mutation_p.P54S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	54					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGTGTAGAGGGAACAGGTCCC	0.567													ENSG00000132016																																					0													185.0	175.0	178.0					19																	14006231		2203	4300	6503	SO:0001583	missense	0			-	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.160C>T	19.37:g.14006231G>A	ENSP00000465822:p.Pro54Ser		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.P54S	ENST00000586783.1	37	c.160		19	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514871	0.44763	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.33865	1.39;1.39	4.09	-4.02	0.04034	.	0.855359	0.09766	N	0.758649	T	0.21347	0.0514	L	0.36672	1.1	0.09310	N	1	P	0.37101	0.582	B	0.33392	0.163	T	0.17653	-1.0362	10	0.87932	D	0	-0.0548	4.6025	0.12361	0.412:0.2863:0.3017:0.0	.	54	Q0VDD7-2	.	S	54	ENSP00000404382:P54S;ENSP00000254336:P54S	ENSP00000254336:P54S	P	-	1	0	C19orf57	13867231	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.298000	0.02756	-0.593000	0.05844	-0.345000	0.07892	CCC	-	C19orf57	-	NULL		0.567	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	0	0		101	101		0.00		G	NM_024323		14006231	-1	30		100		tier1	no_errors	ENST00000454313	ensembl	human	known	74_37	missense	22.90		SNP	0.000	A	30	100
SEC14L3	266629	genome.wustl.edu	37	22	30863008	30863008	+	Silent	SNP	C	C	T	rs142636401		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:30863008C>T	ENST00000215812.4	-	6	570	c.480G>A	c.(478-480)ctG>ctA	p.L160L	SEC14L3_ENST00000415957.2_Silent_p.L101L|SEC14L3_ENST00000403066.1_Silent_p.L101L|SEC14L3_ENST00000539629.1_Silent_p.L101L|SEC14L3_ENST00000402286.1_Silent_p.L83L|SEC14L3_ENST00000401751.1_Silent_p.L101L|SEC14L3_ENST00000540910.1_Silent_p.L83L	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	160	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGAAGTGTTTCAGTCCCAGGC	0.512													ENSG00000100012																									Esophageal Squamous(108;290 1516 3584 23771 37333)												0								C		1,4405	2.1+/-5.4	0,1,2202	154.0	133.0	140.0		480	3.6	1.0	22	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	SEC14L3	NM_174975.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		160/401	30863008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.480G>A	22.37:g.30863008C>T			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L160	ENST00000215812.4	37	c.480	CCDS13877.1	22																																																																																			rs142636401	SEC14L3	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.512	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L3	HGNC	protein_coding	OTTHUMT00000321950.4	0	0		59	59		0.00		C	NM_174975		30863008	-1	29		55		tier1	no_errors	ENST00000215812	ensembl	human	known	74_37	silent	34.52		SNP	1.000	T	29	55
PDZRN3	23024	genome.wustl.edu	37	3	73433538	73433538	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:73433538G>A	ENST00000263666.4	-	10	2293	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R384C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R384C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R444C|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R449C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	727					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)		TTGTAGTTGCGGAAGCCGCTG	0.597													ENSG00000121440																																					0													46.0	41.0	43.0					3																	73433538		2203	4300	6503	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.2179C>T	3.37:g.73433538G>A	ENSP00000263666:p.Arg727Cys		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.R727C	ENST00000263666.4	37	c.2179	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713668	0.68730	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.10860	2.83;3.53;3.42;3.42;3.53;3.49	4.92	4.05	0.47172	.	0.053789	0.85682	N	0.000000	T	0.32971	0.0847	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	P;D;P;P	0.65874	0.827;0.939;0.886;0.852	T	0.15578	-1.0432	10	0.66056	D	0.02	.	12.717	0.57121	0.0805:0.0:0.9195:0.0	.	449;444;444;727	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	727;449;384;384;444;425	ENSP00000263666:R727C;ENSP00000442026:R449C;ENSP00000418168:R384C;ENSP00000418484:R384C;ENSP00000418624:R444C;ENSP00000419250:R425C	ENSP00000263666:R727C	R	-	1	0	PDZRN3	73516228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.004000	0.70709	1.072000	0.40860	0.591000	0.81541	CGC	-	PDZRN3	-	NULL		0.597	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	0	0		20	20		0.00		G	XM_041363		73433538	-1	7		20		tier1	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	25.93		SNP	1.000	A	7	20
ACSBG2	81616	genome.wustl.edu	37	19	6151750	6151750	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6151750C>T	ENST00000586696.1	+	4	606	c.330C>T	c.(328-330)atC>atT	p.I110I	ACSBG2_ENST00000588304.1_Silent_p.I60I|ACSBG2_ENST00000591403.1_Silent_p.I110I|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Silent_p.I110I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	110					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTTGGTATCCTGGGGTTTA	0.463													ENSG00000130377																																					0													159.0	126.0	137.0					19																	6151750		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.330C>T	19.37:g.6151750C>T			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.I110	ENST00000586696.1	37	c.330	CCDS12159.1	19																																																																																			-	ACSBG2	-	pfam_AMP-dep_Synth/Lig		0.463	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	0	0		89	89		0.00		C	NM_030924		6151750	+1	25		65		tier1	no_errors	ENST00000252669	ensembl	human	known	74_37	silent	27.78		SNP	1.000	T	25	65
AADACL4	343066	genome.wustl.edu	37	1	12726407	12726407	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:12726407G>A	ENST00000376221.1	+	4	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	295						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AGAAATTTAAGAACAGAGGCT	0.512													ENSG00000204518																																					0													84.0	91.0	89.0					1																	12726407		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.885G>A	1.37:g.12726407G>A				Silent	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.K295	ENST00000376221.1	37	c.885	CCDS30590.1	1																																																																																			-	AADACL4	-	pirsf_Arylacetamide_deacetylase		0.512	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	HGNC	protein_coding	OTTHUMT00000005328.1	0	0		14	14		0.00		G	NM_001013630		12726407	+1	9		20		tier1	no_errors	ENST00000376221	ensembl	human	known	74_37	silent	31.03		SNP	0.235	A	9	20
PRMT3	10196	genome.wustl.edu	37	11	20414467	20414467	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:20414467T>G	ENST00000331079.6	+	5	539	c.322T>G	c.(322-324)Tcc>Gcc	p.S108A	PRMT3_ENST00000437750.2_Missense_Mutation_p.S46A	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	108					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTACATGAATTCCATATACAA	0.313													ENSG00000185238																																					0													160.0	164.0	163.0					11																	20414467		2203	4300	6503	SO:0001583	missense	0			-	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.322T>G	11.37:g.20414467T>G	ENSP00000331879:p.Ser108Ala		B4DUC7	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tR_Trfase_Trm5/Tyw2	p.S108A	ENST00000331079.6	37	c.322	CCDS7853.1	11	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707248	0.48412	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.41758	0.99;0.99	5.7	5.7	0.88788	.	0.415388	0.30269	N	0.010007	T	0.41511	0.1162	L	0.48986	1.54	0.37295	D	0.908447	P;B	0.44044	0.825;0.0	P;B	0.46026	0.501;0.006	T	0.41556	-0.9502	10	0.24483	T	0.36	-13.1321	10.3112	0.43710	0.0:0.0744:0.0:0.9256	.	46;108	O60678-2;O60678	.;ANM3_HUMAN	A	108;108;46	ENSP00000331879:S108A;ENSP00000397766:S46A	ENSP00000331879:S108A	S	+	1	0	PRMT3	20371043	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.912000	0.48782	2.287000	0.76781	0.533000	0.62120	TCC	-	PRMT3	-	NULL		0.313	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT3	HGNC	protein_coding	OTTHUMT00000387489.1	0	0		74	74		0.00		T	NM_005788		20414467	+1	19		64		tier1	no_errors	ENST00000331079	ensembl	human	known	74_37	missense	22.89		SNP	1.000	G	19	64
ZFHX3	463	genome.wustl.edu	37	16	72822522	72822522	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:72822522G>A	ENST00000268489.5	-	10	10325	c.9653C>T	c.(9652-9654)cCg>cTg	p.P3218L	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2304L|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3218					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTGGGTGGCGGCTGGGCTGC	0.622													ENSG00000140836																																					0													117.0	127.0	124.0					16																	72822522		2198	4300	6498	SO:0001583	missense	0			-	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9653C>T	16.37:g.72822522G>A	ENSP00000268489:p.Pro3218Leu		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P3218L	ENST00000268489.5	37	c.9653	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	7.691	0.690992	0.15039	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74315	-0.83;-0.82	5.7	3.58	0.41010	.	0.479206	0.15570	N	0.255505	T	0.77942	0.4206	L	0.34521	1.04	0.31897	N	0.616448	D	0.89917	1.0	D	0.74023	0.982	T	0.78620	-0.2133	10	0.72032	D	0.01	.	10.4587	0.44565	0.0:0.0:0.6321:0.3679	.	3218	Q15911	ZFHX3_HUMAN	L	3218;2304	ENSP00000268489:P3218L;ENSP00000438926:P2304L	ENSP00000268489:P3218L	P	-	2	0	ZFHX3	71380023	0.839000	0.29477	0.872000	0.34217	0.534000	0.34807	1.625000	0.37029	1.346000	0.45694	0.557000	0.71058	CCG	-	ZFHX3	-	NULL		0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	0	0		29	29		0.00		G	NM_006885		72822522	-1	18		12		tier1	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	60.00		SNP	0.823	A	18	12
FHL5	9457	genome.wustl.edu	37	6	97063567	97063567	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:97063567C>T	ENST00000326771.2	+	7	1154	c.774C>T	c.(772-774)tcC>tcT	p.S258S	FHL5_ENST00000541107.1_Silent_p.S258S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	258	LIM zinc-binding 4. {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)		GCTCTGTCTCCTTGGTGGGTA	0.493													ENSG00000112214																																					0													111.0	107.0	108.0					6																	97063567		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.774C>T	6.37:g.97063567C>T			B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S258	ENST00000326771.2	37	c.774	CCDS5035.1	6																																																																																			-	FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.493	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1	0	0		44	44		0.00		C	NM_020482		97063567	+1	18		37		tier1	no_errors	ENST00000326771	ensembl	human	known	74_37	silent	32.73		SNP	0.670	T	18	37
HEATR1	55127	genome.wustl.edu	37	1	236767332	236767332	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:236767332A>G	ENST00000366582.3	-	2	178	c.64T>C	c.(64-66)Tct>Cct	p.S22P	HEATR1_ENST00000366581.2_Missense_Mutation_p.S22P|HEATR1_ENST00000366579.1_Missense_Mutation_p.S22P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	22					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCATCTCTAGATAAGAGGCTG	0.502													ENSG00000119285																																					0													74.0	73.0	73.0					1																	236767332		2203	4300	6503	SO:0001583	missense	0			-	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.64T>C	1.37:g.236767332A>G	ENSP00000355541:p.Ser22Pro		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.S22P	ENST00000366582.3	37	c.64	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338253	0.60963	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.50813	0.73;0.73;0.73	5.51	4.32	0.51571	.	0.529765	0.21093	N	0.080290	T	0.38719	0.1051	L	0.52011	1.625	0.09310	N	1	P	0.46706	0.883	B	0.41036	0.346	T	0.30621	-0.9972	10	0.33940	T	0.23	.	7.3476	0.26672	0.6295:0.1773:0.0:0.1932	.	22	Q9H583	HEAT1_HUMAN	P	22	ENSP00000355541:S22P;ENSP00000355540:S22P;ENSP00000355538:S22P	ENSP00000355538:S22P	S	-	1	0	HEATR1	234833955	0.016000	0.18221	0.020000	0.16555	0.902000	0.53008	0.769000	0.26604	2.092000	0.63282	0.482000	0.46254	TCT	-	HEATR1	-	NULL		0.502	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	0	0		66	66		0.00		A	XM_375853		236767332	-1	41		55		tier1	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	42.71		SNP	0.000	G	41	55
CELSR1	9620	genome.wustl.edu	37	22	46930172	46930172	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:46930172G>A	ENST00000262738.3	-	1	2895	c.2896C>T	c.(2896-2898)Ctt>Ttt	p.L966F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L966F|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	966	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGCCCAAAGGTTGTACACG	0.607													ENSG00000075275																																					0													59.0	60.0	59.0					22																	46930172		2202	4300	6502	SO:0001583	missense	0			-	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2896C>T	22.37:g.46930172G>A	ENSP00000262738:p.Leu966Phe		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	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.L966F	ENST00000262738.3	37	c.2896	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632959	0.67015	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.26957	1.7;1.7	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	U	0.000045	T	0.39306	0.1073	N	0.26042	0.785	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.39603	-0.9606	10	0.87932	D	0	.	16.8638	0.86024	0.0:0.0:1.0:0.0	.	966	Q9NYQ6	CELR1_HUMAN	F	966	ENSP00000262738:L966F;ENSP00000379293:L966F	ENSP00000262738:L966F	L	-	1	0	CELSR1	45308836	1.000000	0.71417	0.927000	0.36925	0.665000	0.39181	4.354000	0.59417	2.297000	0.77311	0.462000	0.41574	CTT	-	CELSR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	0	0		33	33		0.00		G	NM_014246		46930172	-1	20		39		tier1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	20	39
COL5A3	50509	genome.wustl.edu	37	19	10088310	10088310	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10088310C>T	ENST00000264828.3	-	42	3171	c.3086G>A	c.(3085-3087)aGc>aAc	p.S1029N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1029	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGCCTTCGCTGCCACTTTG	0.622													ENSG00000080573																																					0													28.0	28.0	28.0					19																	10088310		2203	4300	6503	SO:0001583	missense	0			-	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3086G>A	19.37:g.10088310C>T	ENSP00000264828:p.Ser1029Asn		Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.S1029N	ENST00000264828.3	37	c.3086	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828719	0.32329	.	.	ENSG00000080573	ENST00000264828	D	0.94280	-3.39	4.84	1.53	0.23141	.	1.679190	0.04598	N	0.398038	D	0.84777	0.5547	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72903	-0.4151	10	0.28530	T	0.3	.	6.5768	0.22571	0.0:0.6821:0.1483:0.1696	.	1029	P25940	CO5A3_HUMAN	N	1029	ENSP00000264828:S1029N	ENSP00000264828:S1029N	S	-	2	0	COL5A3	9949310	0.000000	0.05858	0.934000	0.37439	0.143000	0.21401	0.567000	0.23608	0.253000	0.21552	-0.137000	0.14449	AGC	-	COL5A3	-	NULL		0.622	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	0	0		136	136		0.00		C	NM_015719		10088310	-1	63		99		tier1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	38.89		SNP	0.024	T	63	99
CHD6	84181	genome.wustl.edu	37	20	40052235	40052235	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:40052235A>C	ENST00000373233.3	-	30	4629	c.4452T>G	c.(4450-4452)atT>atG	p.I1484M		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1484	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAAACGGGAAATGATGCGGA	0.438													ENSG00000124177																																					0													168.0	177.0	174.0					20																	40052235		2203	4300	6503	SO:0001583	missense	0			-	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4452T>G	20.37:g.40052235A>C	ENSP00000362330:p.Ile1484Met		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.I1484M	ENST00000373233.3	37	c.4452	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	A	9.099	1.003639	0.19121	.	.	ENSG00000124177	ENST00000373233	D	0.85773	-2.03	6.07	3.47	0.39725	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000006	T	0.73094	0.3543	L	0.31420	0.93	0.80722	D	1	B	0.25390	0.125	B	0.31495	0.131	T	0.60485	-0.7254	10	0.13108	T	0.6	-14.1285	5.0303	0.14405	0.6038:0.0:0.1018:0.2944	.	1484	Q8TD26	CHD6_HUMAN	M	1484	ENSP00000362330:I1484M	ENSP00000362330:I1484M	I	-	3	3	CHD6	39485649	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.767000	0.26575	1.079000	0.41038	-0.438000	0.05819	ATT	-	CHD6	-	NULL		0.438	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	0	0		43	43		0.00		A			40052235	-1	24		37		tier1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	39.34		SNP	0.999	C	24	37
TRNAU1AP	54952	genome.wustl.edu	37	1	28904058	28904058	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:28904058G>T	ENST00000373830.3	+	9	800	c.774G>T	c.(772-774)atG>atT	p.M258I	SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000384581.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	258					selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AGGAGTTCATGGAACAGAGTG	0.557													ENSG00000180098																																					0													193.0	182.0	186.0					1																	28904058		2203	4300	6503	SO:0001583	missense	0			-		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.774G>T	1.37:g.28904058G>T	ENSP00000362936:p.Met258Ile		Q86SU7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M258I	ENST00000373830.3	37	c.774	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378117	0.61735	.	.	ENSG00000180098	ENST00000373830	T	0.64803	-0.12	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.52573	1.65	0.80722	D	1	P	0.47034	0.889	B	0.44224	0.444	T	0.55412	-0.8145	10	0.15066	T	0.55	.	18.6987	0.91613	0.0:0.0:1.0:0.0	.	258	Q9NX07	TSAP1_HUMAN	I	258	ENSP00000362936:M258I	ENSP00000362936:M258I	M	+	3	0	TRNAU1AP	28776645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.034000	0.76511	2.763000	0.94921	0.591000	0.81541	ATG	-	TRU1AP	-	NULL		0.557	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	0	0		37	37		0.00		G	NM_017846		28904058	+1	24		45		tier1	no_errors	ENST00000373830	ensembl	human	known	74_37	missense	34.78		SNP	1.000	T	24	45
CCDC63	160762	genome.wustl.edu	37	12	111345205	111345205	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:111345205G>A	ENST00000308208.5	+	12	1859	c.1617G>A	c.(1615-1617)cgG>cgA	p.R539R	CCDC63_ENST00000545036.1_Silent_p.R499R|CCDC63_ENST00000552694.1_Silent_p.R460R	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	539										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGGAGAATCGGAGTAAGGAAG	0.537													ENSG00000173093																																					0													87.0	69.0	75.0					12																	111345205		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1617G>A	12.37:g.111345205G>A			B4DY03|Q0P603|Q6P2E1	Silent	SNP	NULL	p.R539	ENST00000308208.5	37	c.1617	CCDS9151.1	12																																																																																			-	CCDC63	-	NULL		0.537	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	0	0		43	43		0.00		G	NM_152591		111345205	+1	7		38		tier1	no_errors	ENST00000308208	ensembl	human	known	74_37	silent	15.56		SNP	0.000	A	7	38
NPAS3	64067	genome.wustl.edu	37	14	34269007	34269007	+	Silent	SNP	C	C	T	rs151099881		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:34269007C>T	ENST00000356141.4	+	12	1494	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	NPAS3_ENST00000346562.2_Silent_p.P466P|NPAS3_ENST00000548645.1_Silent_p.P468P|NPAS3_ENST00000357798.5_Silent_p.P485P|NPAS3_ENST00000551492.1_Silent_p.P503P			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	498					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACCCGGAGCCCGACCGGAAGA	0.657													ENSG00000151322																																					0								C	,,,	0,4404		0,0,2202	38.0	36.0	36.0		1494,1404,1398,1455	1.1	1.0	14	dbSNP_134	36	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPAS3	NM_001164749.1,NM_001165893.1,NM_022123.2,NM_173159.2	,,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,,	498/934,468/904,466/902,485/921	34269007	1,12991	2202	4294	6496	SO:0001819	synonymous_variant	0			-	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1494C>T	14.37:g.34269007C>T			Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.P498	ENST00000356141.4	37	c.1494	CCDS53891.1	14																																																																																			rs151099881	NPAS3	-	NULL		0.657	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	0	0		102	102		0.00		C			34269007	+1	54		49		tier1	no_errors	ENST00000356141	ensembl	human	known	74_37	silent	52.43		SNP	0.924	T	54	49
ZSWIM6	57688	genome.wustl.edu	37	5	60839860	60839860	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:60839860C>T	ENST00000252744.5	+	14	3364	c.3364C>T	c.(3364-3366)Cat>Tat	p.H1122Y		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	1122					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						GGTGGGACTTCATGGGAGGAG	0.527													ENSG00000130449																																					0													126.0	113.0	117.0					5																	60839860		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.3364C>T	5.37:g.60839860C>T	ENSP00000252744:p.His1122Tyr			Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.H1122Y	ENST00000252744.5	37	c.3364	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	c	11.09	1.536402	0.27475	.	.	ENSG00000130449	ENST00000252744	T	0.46451	0.87	4.63	4.63	0.57726	.	0.054868	0.64402	D	0.000001	T	0.38904	0.1058	L	0.43152	1.355	0.47819	D	0.999527	P	0.43750	0.816	P	0.45712	0.491	T	0.20371	-1.0277	10	0.02654	T	1	-0.7012	17.709	0.88316	0.0:1.0:0.0:0.0	.	1122	Q9HCJ5	ZSWM6_HUMAN	Y	1122	ENSP00000252744:H1122Y	ENSP00000252744:H1122Y	H	+	1	0	ZSWIM6	60875617	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.283000	0.78640	2.426000	0.82243	0.550000	0.68814	CAT	-	ZSWIM6	-	NULL		0.527	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	0	0		58	58		0.00		C	NM_020928		60839860	+1	15		79		tier1	no_errors	ENST00000252744	ensembl	human	novel	74_37	missense	15.96		SNP	1.000	T	15	79
PI4KA	5297	genome.wustl.edu	37	22	21188907	21188907	+	Missense_Mutation	SNP	G	G	A	rs575366622		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21188907G>A	ENST00000572273.1	-	3	366	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	PI4KA_ENST00000255882.6_Missense_Mutation_p.L104F			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	46					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGACCTTTGAGAAGTCGAAGA	0.318													ENSG00000241973	G|||	1	0.000199681	0.0	0.0	5008	,	,		20168	0.0		0.0	False		,,,				2504	0.001				GBM(136;1332 1831 3115 23601 50806)												0													130.0	135.0	133.0					22																	21188907		2203	4300	6503	SO:0001583	missense	0			-	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.136C>T	22.37:g.21188907G>A	ENSP00000458238:p.Leu46Phe		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L104F	ENST00000572273.1	37	c.310		22	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156522	0.38119	.	.	ENSG00000241973	ENST00000255882;ENST00000449120	T	0.55588	0.51	5.16	5.16	0.70880	.	0.076726	0.52532	D	0.000076	T	0.45776	0.1359	L	0.58428	1.81	0.80722	D	1	B;B	0.18610	0.029;0.004	B;B	0.23275	0.045;0.005	T	0.44937	-0.9295	10	0.39692	T	0.17	-23.4874	6.5827	0.22605	0.2109:0.0:0.7891:0.0	.	104;46	D3DX33;P42356	.;PI4KA_HUMAN	F	46	ENSP00000402437:L46F	ENSP00000255882:L46F	L	-	1	0	PI4KA	19518907	0.979000	0.34478	1.000000	0.80357	0.995000	0.86356	1.091000	0.30915	2.689000	0.91719	0.655000	0.94253	CTC	-	PI4KA	-	superfamily_ARM-type_fold		0.318	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		0	0		135	135		0.00		G	NM_058004		21188907	-1	44		150		tier1	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	22.68		SNP	0.997	A	44	150
AP000745.1	0	genome.wustl.edu	37	21	19264039	19264039	+	RNA	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:19264039A>G	ENST00000408408.1	+	0	12																											TAttaggtggatgcaaaagta	0.294													ENSG00000221335																																					0																																												0			-																													21.37:g.19264039A>G				R	SNP	-	NULL	ENST00000408408.1	37	NULL		21																																																																																			-	AP000745.1	-	-		0.294	AP000745.1-201	NOVEL	basic	miRNA	ENSG00000221335	Clone_based_ensembl_gene	miRNA		0	0		25	25		0.00		A			19264039	+1	5		26		tier1	no_errors	ENST00000408408	ensembl	human	novel	74_37	rna	16.13		SNP	0.000	G	5	26
SLIT2	9353	genome.wustl.edu	37	4	20544139	20544139	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:20544139C>T	ENST00000504154.1	+	21	2418	c.2166C>T	c.(2164-2166)tcC>tcT	p.S722S	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503823.1_Silent_p.S714S|SLIT2_ENST00000503837.1_Silent_p.S718S|SLIT2_ENST00000273739.5_Silent_p.S726S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	722	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATAGTTGCTCCCCACTTTCTC	0.423													ENSG00000145147																																					0													324.0	296.0	305.0					4																	20544139		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2166C>T	4.37:g.20544139C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,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_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.S722	ENST00000504154.1	37	c.2166	CCDS3426.1	4																																																																																			-	SLIT2	-	NULL		0.423	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	0	0		90	90		0.00		C			20544139	+1	44		85		tier1	no_errors	ENST00000504154	ensembl	human	known	74_37	silent	34.11		SNP	0.822	T	44	85
C8B	732	genome.wustl.edu	37	1	57406609	57406609	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:57406609G>A	ENST00000371237.4	-	9	1377	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	C8B_ENST00000543257.1_Silent_p.T385T|C8B_ENST00000535057.1_Silent_p.T375T	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	437	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGTATGCCAGGGTGGTGATGT	0.572													ENSG00000021852																																					0													161.0	118.0	132.0					1																	57406609		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1311C>T	1.37:g.57406609G>A			A1L4K7	Silent	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.T437	ENST00000371237.4	37	c.1311	CCDS30730.1	1																																																																																			-	C8B	-	pfam_MACPF,smart_MACPF		0.572	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	0	0		63	63		0.00		G			57406609	-1	27		66		tier1	no_errors	ENST00000371237	ensembl	human	known	74_37	silent	29.03		SNP	0.918	A	27	66
TTC1	7265	genome.wustl.edu	37	5	159491941	159491941	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:159491941A>T	ENST00000231238.5	+	8	858	c.748A>T	c.(748-750)Aaa>Taa	p.K250*	TTC1_ENST00000522793.1_Nonsense_Mutation_p.K250*|TTC1_ENST00000520274.1_3'UTR	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	250					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CATTACAGGTAAATTAAAAGA	0.388													ENSG00000113312																																					0													61.0	62.0	61.0					5																	159491941		2203	4300	6503	SO:0001587	stop_gained	0			-	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.748A>T	5.37:g.159491941A>T	ENSP00000231238:p.Lys250*		B2RCT2|D3DQJ8|Q9BVT3	Nonsense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K250*	ENST00000231238.5	37	c.748	CCDS4348.1	5	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581461	0.86748	.	.	ENSG00000113312	ENST00000231238;ENST00000522793;ENST00000518560	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2074	16.0892	0.81080	1.0:0.0:0.0:0.0	.	.	.	.	X	250;250;82	.	ENSP00000231238:K250X	K	+	1	0	TTC1	159424519	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.610000	0.90902	2.279000	0.76181	0.533000	0.62120	AAA	-	TTC1	-	NULL		0.388	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC1	HGNC	protein_coding	OTTHUMT00000252675.3	0	0		45	45		0.00		A	NM_003314		159491941	+1	15		29		tier1	no_errors	ENST00000231238	ensembl	human	known	74_37	nonsense	34.09		SNP	1.000	T	15	29
SLC19A3	80704	genome.wustl.edu	37	2	228563864	228563864	+	Silent	SNP	G	G	A	rs373262430		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:228563864G>A	ENST00000258403.3	-	3	638	c.567C>T	c.(565-567)ttC>ttT	p.F189F	SLC19A3_ENST00000541617.1_Silent_p.F185F|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	189					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCATTGGTAGGAAAAGTGAGA	0.443													ENSG00000135917																																					0								G		0,4406		0,0,2203	93.0	86.0	88.0		567	-1.0	0.1	2		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC19A3	NM_025243.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		189/497	228563864	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.567C>T	2.37:g.228563864G>A				Silent	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.F189	ENST00000258403.3	37	c.567	CCDS2468.1	2																																																																																			-	SLC19A3	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.443	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	0	0		50	50		0.00		G			228563864	-1	17		53		tier1	no_errors	ENST00000258403	ensembl	human	known	74_37	silent	24.29		SNP	0.541	A	17	53
RIPK4	54101	genome.wustl.edu	37	21	43171362	43171362	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:43171362G>A	ENST00000352483.2	-	3	582	c.518C>T	c.(517-519)tCg>tTg	p.S173L	RIPK4_ENST00000542057.1_Missense_Mutation_p.S110L|RIPK4_ENST00000544709.1_Missense_Mutation_p.S110L|RIPK4_ENST00000332512.3_Missense_Mutation_p.S173L			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTCATGCGAGTGGGACAG	0.537													ENSG00000183421																																					0													138.0	120.0	126.0					21																	43171362		2203	4300	6503	SO:0001583	missense	0			-	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.518C>T	21.37:g.43171362G>A	ENSP00000330161:p.Ser173Leu		Q96KH0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S173L	ENST00000352483.2	37	c.518		21	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120105	0.56613	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.59	4.59	0.56863	.	0.108389	0.40302	N	0.001126	T	0.53610	0.1807	L	0.45422	1.42	0.41019	D	0.985062	P	0.39964	0.697	B	0.35073	0.195	T	0.58736	-0.7584	10	0.40728	T	0.16	-9.9523	16.3904	0.83533	0.0:0.0:1.0:0.0	.	173	P57078-2	.	L	173;173;110;110	ENSP00000332454:S173L;ENSP00000330161:S173L;ENSP00000441754:S110L;ENSP00000442901:S110L	ENSP00000332454:S173L	S	-	2	0	RIPK4	42044431	1.000000	0.71417	0.891000	0.34965	0.339000	0.28857	7.008000	0.76341	2.088000	0.63022	0.561000	0.74099	TCG	-	RIPK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.537	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	HGNC	protein_coding		0	0		56	56		0.00		G	NM_020639		43171362	-1	33		64		tier1	no_errors	ENST00000352483	ensembl	human	known	74_37	missense	34.02		SNP	0.999	A	33	64
LENEP	55891	genome.wustl.edu	37	1	154966128	154966128	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154966128C>T	ENST00000392487.1	+	1	65	c.45C>T	c.(43-45)ttC>ttT	p.F15F				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	15					multicellular organismal development (GO:0007275)		DNA binding (GO:0003677)			lung(2)	2	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)			TACCCTTCTTCCTCGGAGGGG	0.617													ENSG00000163352																																					0													55.0	56.0	56.0					1																	154966128		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF268478	CCDS1080.1	1q22.2	2008-02-05			ENSG00000163352	ENSG00000163352			14429	protein-coding gene	gene with protein product		607377				10655141, 11376938	Standard	NM_018655		Approved	LEP503	uc001fgi.3	Q9Y5L5	OTTHUMG00000037417	ENST00000392487.1:c.45C>T	1.37:g.154966128C>T			B5BUM1|Q5T1A4	Silent	SNP	NULL	p.F15	ENST00000392487.1	37	c.45	CCDS1080.1	1																																																																																			-	LENEP	-	NULL		0.617	LENEP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LENEP	HGNC	protein_coding	OTTHUMT00000385609.2	0	0		78	78		0.00		C	NM_018655		154966128	+1	66		82		tier1	no_errors	ENST00000368427	ensembl	human	known	74_37	silent	44.59		SNP	0.978	T	66	82
GGT5	2687	genome.wustl.edu	37	22	24622729	24622729	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:24622729T>C	ENST00000327365.4	-	7	1324	c.908A>G	c.(907-909)aAc>aGc	p.N303S	GGT5_ENST00000398292.3_Missense_Mutation_p.N303S|GGT5_ENST00000418439.2_Missense_Mutation_p.N226S|GGT5_ENST00000263112.7_Missense_Mutation_p.N271S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	303					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGTTGAGAAGTTGAACCCTGG	0.567													ENSG00000099998																																					0													127.0	113.0	118.0					22																	24622729		2203	4300	6503	SO:0001583	missense	0			-	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.908A>G	22.37:g.24622729T>C	ENSP00000330080:p.Asn303Ser		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.N303S	ENST00000327365.4	37	c.908	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	T	8.760	0.923453	0.18056	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	3.19	3.19	0.36642	.	0.796207	0.11710	N	0.537000	T	0.37293	0.0998	L	0.55213	1.73	0.41678	D	0.989276	D;B;B;P;B	0.63046	0.992;0.216;0.437;0.599;0.437	D;B;B;B;B	0.64595	0.927;0.17;0.348;0.345;0.348	T	0.09465	-1.0673	10	0.51188	T	0.08	-31.7969	9.7882	0.40688	0.0:0.0:0.0:1.0	.	226;271;303;303;303	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	S	303;271;218;303;226	ENSP00000330080:N303S;ENSP00000263112:N271S;ENSP00000381340:N303S;ENSP00000392146:N226S	ENSP00000263112:N271S	N	-	2	0	GGT5	22952729	1.000000	0.71417	0.994000	0.49952	0.080000	0.17528	3.221000	0.51215	1.471000	0.48121	0.392000	0.25879	AAC	-	GGT5	-	pfam_GGT_peptidase		0.567	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	0	0		69	69		0.00		T	NM_004121		24622729	-1	39		69		tier1	no_errors	ENST00000398292	ensembl	human	known	74_37	missense	36.11		SNP	1.000	C	39	69
PCDHB8	56128	genome.wustl.edu	37	5	140558099	140558099	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140558099G>A	ENST00000239444.2	+	1	729	c.484G>A	c.(484-486)Gat>Aat	p.D162N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	162	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)			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)			TGAAGACTTAGATATAGGCCA	0.458													ENSG00000120322																																					0													74.0	114.0	100.0					5																	140558099		2203	4300	6503	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.484G>A	5.37:g.140558099G>A	ENSP00000239444:p.Asp162Asn		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D162N	ENST00000239444.2	37	c.484	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	g	15.27	2.782428	0.49891	.	.	ENSG00000120322	ENST00000239444	T	0.74002	-0.8	4.25	3.33	0.38152	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92685	0.7675	H	0.99959	5.06	0.37638	D	0.921924	D	0.89917	1.0	D	0.97110	1.0	D	0.95906	0.8919	9	0.87932	D	0	.	12.9599	0.58451	0.0:0.0:0.8376:0.1624	.	162	Q9UN66	PCDB8_HUMAN	N	162	ENSP00000239444:D162N	ENSP00000239444:D162N	D	+	1	0	PCDHB8	140538283	1.000000	0.71417	0.509000	0.27700	0.118000	0.20060	9.675000	0.98638	1.911000	0.55334	0.585000	0.79938	GAT	-	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	0	0		192	192		0.00		G	NM_019120		140558099	+1	61		224		tier1	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	21.40		SNP	0.998	A	61	224
IGF2BP1	10642	genome.wustl.edu	37	17	47122427	47122427	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47122427G>A	ENST00000290341.3	+	12	1729	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	IGF2BP1_ENST00000431824.2_Splice_Site_p.K326K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	465	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCAATTCAAGGTTTTGGTCT	0.453													ENSG00000159217																									Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													150.0	136.0	140.0					17																	47122427		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1395+1G>A	17.37:g.47122427G>A			C9JT33	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.K465	ENST00000290341.3	37	c.1395	CCDS11543.1	17																																																																																			-	IGF2BP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.453	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	0	0		134	134		0.00		G	NM_006546	Silent	47122427	+1	50		103		tier1	no_errors	ENST00000290341	ensembl	human	known	74_37	silent	32.68		SNP	1.000	A	50	103
ACSM4	341392	genome.wustl.edu	37	12	7463239	7463239	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7463239C>T	ENST00000399422.4	+	3	565	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	173					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GGAGGTGGCCCCAGCGGTGGA	0.537													ENSG00000215009																																					0													48.0	48.0	48.0					12																	7463239		1992	4166	6158	SO:0001583	missense	0			-		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.517C>T	12.37:g.7463239C>T	ENSP00000382349:p.Pro173Ser		A8MTI6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P173S	ENST00000399422.4	37	c.517	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517442	0.13005	.	.	ENSG00000215009	ENST00000399422	T	0.10763	2.84	3.48	2.58	0.30949	AMP-dependent synthetase/ligase (1);	0.187978	0.25288	U	0.031745	T	0.13072	0.0317	L	0.37850	1.14	0.19945	N	0.99994	B	0.33919	0.432	P	0.45712	0.491	T	0.21793	-1.0235	10	0.27082	T	0.32	-0.8445	9.8773	0.41211	0.0:0.5914:0.4086:0.0	.	173	P0C7M7	ACSM4_HUMAN	S	173	ENSP00000382349:P173S	ENSP00000382349:P173S	P	+	1	0	ACSM4	7354506	0.001000	0.12720	0.259000	0.24435	0.010000	0.07245	1.202000	0.32271	0.824000	0.34613	-0.127000	0.14921	CCA	-	ACSM4	-	pfam_AMP-dep_Synth/Lig		0.537	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	HGNC	protein_coding	OTTHUMT00000337866.2	0	0		60	60		0.00		C	NM_001080454		7463239	+1	16		61		tier1	no_errors	ENST00000399422	ensembl	human	novel	74_37	missense	20.78		SNP	0.221	T	16	61
FGL1	2267	genome.wustl.edu	37	8	17731905	17731905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:17731905G>A	ENST00000398056.2	-	6	1185	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	FGL1_ENST00000427924.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000522444.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000381841.2_Nonsense_Mutation_p.Q124*|FGL1_ENST00000398054.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000518650.1_Nonsense_Mutation_p.Q124*|FGL1_ENST00000381840.2_Nonsense_Mutation_p.Q124*			Q08830	FGL1_HUMAN	fibrinogen-like 1	124	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GATCGTCTCTGAATTACAGTC	0.368													ENSG00000104760																																					0													141.0	132.0	135.0					8																	17731905		2203	4300	6503	SO:0001587	stop_gained	0			-	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.370C>T	8.37:g.17731905G>A	ENSP00000381133:p.Gln124*		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Nonsense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q124*	ENST00000398056.2	37	c.370	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.958779	0.97964	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9682	0.92704	0.0:0.0:1.0:0.0	.	.	.	.	X	124;124;94;124;124;124;124;124;124	.	ENSP00000221204:Q124X	Q	-	1	0	FGL1	17776185	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.021000	0.93673	2.562000	0.86427	0.555000	0.69702	CAG	-	FGL1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.368	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	HGNC	protein_coding	OTTHUMT00000375254.1	0	0		50	50		0.00		G	NM_004467		17731905	-1	16		47		tier1	no_errors	ENST00000381840	ensembl	human	known	74_37	nonsense	25.40		SNP	1.000	A	16	47
P2RX6	9127	genome.wustl.edu	37	22	21380901	21380901	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21380901C>T	ENST00000413302.2	+	12	1469	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	P2RX6_ENST00000336296.2_Silent_p.L431L|P2RX6_ENST00000401443.1_Silent_p.L415L|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.L388L			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	441					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										TTCCGGGAGCCTGTAGCCGTT	0.637													ENSG00000099957																																					0													30.0	26.0	27.0					22																	21380901		2199	4281	6480	SO:0001819	synonymous_variant	0			-		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1321C>T	22.37:g.21380901C>T			F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.L441	ENST00000413302.2	37	c.1321	CCDS13788.2	22																																																																																			-	P2RX6	-	NULL		0.637	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX6	HGNC	protein_coding	OTTHUMT00000319625.2	1	1		123	123		0.81		C	NM_005446		21380901	+1	45		98		tier1	no_errors	ENST00000413302	ensembl	human	known	74_37	silent	31.47		SNP	0.000	T	45	98
RBM12B	389677	genome.wustl.edu	37	8	94747818	94747818	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:94747818C>T	ENST00000399300.2	-	3	1034	c.821G>A	c.(820-822)aGa>aAa	p.R274K	RBM12B_ENST00000517700.1_Missense_Mutation_p.R274K|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	274							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACGTGTTCTTCTGGGAGATTT	0.378													ENSG00000183808																																					0													98.0	91.0	93.0					8																	94747818		1833	4098	5931	SO:0001583	missense	0			-		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.821G>A	8.37:g.94747818C>T	ENSP00000382239:p.Arg274Lys		A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R274K	ENST00000399300.2	37	c.821	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392414	0.25118	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.29655	1.56;1.56	5.36	4.49	0.54785	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000001	T	0.18173	0.0436	N	0.19112	0.55	0.29268	N	0.870878	B	0.02656	0.0	B	0.04013	0.001	T	0.14309	-1.0477	10	0.16420	T	0.52	-8.4691	10.723	0.46050	0.0:0.8529:0.0:0.1471	.	274	Q8IXT5	RB12B_HUMAN	K	274	ENSP00000382239:R274K;ENSP00000427729:R274K	ENSP00000382239:R274K	R	-	2	0	RBM12B	94816994	0.998000	0.40836	1.000000	0.80357	0.857000	0.48899	3.034000	0.49751	1.396000	0.46663	0.591000	0.81541	AGA	-	RBM12B	-	NULL		0.378	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	0	0		70	70		0.00		C	NM_203390		94747818	-1	28		47		tier1	no_errors	ENST00000399300	ensembl	human	known	74_37	missense	37.33		SNP	0.997	T	28	47
CYP4B1	1580	genome.wustl.edu	37	1	47280768	47280768	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47280768C>T	ENST00000271153.4	+	8	938	c.902C>T	c.(901-903)tCa>tTa	p.S301L	CYP4B1_ENST00000371919.4_Missense_Mutation_p.S287L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.S139L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.S302L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	301					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ATCAAACTGTCAGATGCAGAC	0.488													ENSG00000142973																																					0													104.0	83.0	90.0					1																	47280768		2203	4300	6503	SO:0001583	missense	0			-	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.902C>T	1.37:g.47280768C>T	ENSP00000271153:p.Ser301Leu		Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450	p.Q278*	ENST00000271153.4	37	c.832	CCDS542.1	1	.	.	.	.	.	.	.	.	.	.	c	19.77	3.889314	0.72524	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	D;D;T;D;D	0.81579	-1.51;-1.51;-0.63;-1.51;-1.51	5.85	5.85	0.93711	.	0.067619	0.64402	D	0.000007	D	0.91260	0.7245	M	0.84773	2.715	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.992;0.994	D;P;D	0.79784	0.993;0.903;0.942	D	0.91595	0.5290	10	0.72032	D	0.01	.	20.168	0.98156	0.0:1.0:0.0:0.0	.	287;302;301	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	L	302;301;287;139;138	ENSP00000360991:S302L;ENSP00000271153:S301L;ENSP00000360987:S287L;ENSP00000400413:S139L;ENSP00000437670:S138L	ENSP00000271153:S301L	S	+	2	0	CYP4B1	47053355	1.000000	0.71417	0.993000	0.49108	0.038000	0.13279	5.962000	0.70364	2.782000	0.95742	0.643000	0.83706	TCA	-	CYP4B1	-	NULL		0.488	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	0	0		37	37		0.00		C	NM_000779		47280768	+1	12		27		tier1	no_errors	ENST00000464439	ensembl	human	known	74_37	nonsense	30.77		SNP	1.000	T	12	27
RIMBP2	23504	genome.wustl.edu	37	12	130926662	130926662	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:130926662G>A	ENST00000261655.4	-	8	1347	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S303F|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S303F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	395	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCGCAGGTGGGAGGGGGCCAC	0.637													ENSG00000060709																																					0													96.0	79.0	85.0					12																	130926662		2203	4300	6503	SO:0001583	missense	0			-	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1184C>T	12.37:g.130926662G>A	ENSP00000261655:p.Ser395Phe		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.S395F	ENST00000261655.4	37	c.1184	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	g	20.5	4.009266	0.75046	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.55413	0.52;0.52;0.52	4.23	4.23	0.50019	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.066882	0.64402	D	0.000006	T	0.64294	0.2585	L	0.42245	1.32	0.44042	D	0.996772	D;B;D	0.71674	0.989;0.38;0.998	P;B;D	0.78314	0.641;0.294;0.991	T	0.62338	-0.6875	10	0.30854	T	0.27	-31.9038	16.6129	0.84899	0.0:0.0:1.0:0.0	.	303;303;395	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	F	395;303;303;303	ENSP00000261655:S395F;ENSP00000440347:S303F;ENSP00000439159:S303F	ENSP00000261655:S395F	S	-	2	0	RIMBP2	129492615	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	6.112000	0.71547	1.867000	0.54127	0.537000	0.68136	TCC	-	RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	0	0		32	32		0.00		G	NM_015347		130926662	-1	10		33		tier1	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	23.26		SNP	1.000	A	10	33
WRAP53	55135	genome.wustl.edu	37	17	7606658	7606658	+	Missense_Mutation	SNP	C	C	T	rs1861948	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7606658C>T	ENST00000316024.5	+	10	3849	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	WRAP53_ENST00000396463.2_Missense_Mutation_p.P501S|EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000457584.2_Missense_Mutation_p.P501S|WRAP53_ENST00000431639.2_Missense_Mutation_p.P501S|WRAP53_ENST00000534050.1_Missense_Mutation_p.P468S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	501					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCTGGGCCTTCCCTTGCTCTC	0.647													ENSG00000141499																																					0													91.0	72.0	79.0					17																	7606658		2203	4300	6503	SO:0001583	missense	0			-	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1501C>T	17.37:g.7606658C>T	ENSP00000324203:p.Pro501Ser		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P501S	ENST00000316024.5	37	c.1501	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478458	0.44044	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.75	5.45	5.45	0.79879	.	0.169022	0.38837	N	0.001551	T	0.60702	0.2289	L	0.46741	1.465	0.42098	D	0.991329	D;D	0.65815	0.995;0.995	P;P	0.57425	0.769;0.82	T	0.53187	-0.8474	10	0.22706	T	0.39	-21.236	17.17	0.86827	0.0:1.0:0.0:0.0	rs1861948;rs1861948	468;501	E9PMG4;Q9BUR4	.;WAP53_HUMAN	S	501;501;501;501;468	ENSP00000397219:P501S;ENSP00000324203:P501S;ENSP00000411061:P501S;ENSP00000379727:P501S;ENSP00000434999:P468S	ENSP00000324203:P501S	P	+	1	0	WRAP53	7547383	0.697000	0.27767	0.999000	0.59377	0.196000	0.23810	1.735000	0.38176	2.748000	0.94277	0.549000	0.68633	CCC	rs1861948	WRAP53	-	NULL		0.647	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	HGNC	protein_coding	OTTHUMT00000259385.2	0	0		36	36		0.00		C	NM_018081		7606658	+1	10		34		tier1	no_errors	ENST00000316024	ensembl	human	known	74_37	missense	22.73		SNP	1.000	T	10	34
SCN5A	6331	genome.wustl.edu	37	3	38645322	38645322	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38645322T>A	ENST00000333535.4	-	12	1920	c.1771A>T	c.(1771-1773)Aag>Tag	p.K591*	SCN5A_ENST00000451551.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.K591*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.K591*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.K591*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.K591*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.K591*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	591					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)	GTGCTGTTCTTTTTGCCATGG	0.657													ENSG00000183873																																					0													80.0	85.0	83.0					3																	38645322		1989	4182	6171	SO:0001587	stop_gained	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.1771A>T	3.37:g.38645322T>A	ENSP00000328968:p.Lys591*		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_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.K591*	ENST00000333535.4	37	c.1771	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	39	7.740079	0.98462	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	4.12	4.12	0.48240	.	0.287635	0.34362	N	0.004023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.28	0.60208	0.0:0.0:0.0:1.0	.	.	.	.	X	591	.	ENSP00000328968:K591X	K	-	1	0	SCN5A	38620326	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.238000	0.51352	1.728000	0.51552	0.459000	0.35465	AAG	-	SCN5A	-	pfam_DUF3451		0.657	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	0	0		40	40		0.00		T	NM_198056		38645322	-1	26		32		tier1	no_errors	ENST00000333535	ensembl	human	known	74_37	nonsense	44.83		SNP	1.000	A	26	32
SIGLEC12	89858	genome.wustl.edu	37	19	52002724	52002724	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:52002724G>A	ENST00000291707.3	-	3	1110	c.1055C>T	c.(1054-1056)aCc>aTc	p.T352I	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T234I	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	352	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTGGTCATGGTCACGCCGGC	0.612													ENSG00000254521																																					0													58.0	52.0	54.0					19																	52002724		2203	4300	6503	SO:0001583	missense	0			-	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1055C>T	19.37:g.52002724G>A	ENSP00000291707:p.Thr352Ile		Q8IYH7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T352I	ENST00000291707.3	37	c.1055	CCDS12833.1	19	.	.	.	.	.	.	.	.	.	.	.	12.89	2.073644	0.36566	.	.	ENSG00000254521	ENST00000291707	T	0.03413	3.94	2.22	0.948	0.19561	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.376419	0.19253	N	0.118880	T	0.11879	0.0289	M	0.88105	2.93	0.09310	N	1	P;P	0.46784	0.816;0.884	P;P	0.52627	0.606;0.704	T	0.02639	-1.1130	10	0.87932	D	0	.	6.0233	0.19640	0.0:0.3294:0.6706:0.0	.	352;234	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	I	352	ENSP00000291707:T352I	ENSP00000291707:T352I	T	-	2	0	SIGLEC12	56694536	0.002000	0.14202	0.013000	0.15412	0.004000	0.04260	-0.018000	0.12568	1.256000	0.44068	0.503000	0.49774	ACC	-	SIGLEC12	-	smart_Ig_sub,pfscan_Ig-like_dom		0.612	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	0	0		40	40		0.00		G	NM_053003		52002724	-1	17		50		tier1	no_errors	ENST00000291707	ensembl	human	known	74_37	missense	25.00		SNP	0.005	A	17	50
TMEM168	64418	genome.wustl.edu	37	7	112412839	112412839	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:112412839C>T	ENST00000312814.6	-	4	2103	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T	TMEM168_ENST00000454074.1_Missense_Mutation_p.A515T|TMEM168_ENST00000480969.1_5'Flank	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	515						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AGTTTACCTGCTAGAGCCCAC	0.413													ENSG00000146802																																					0													92.0	79.0	84.0					7																	112412839		2203	4300	6503	SO:0001583	missense	0			-		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1543G>A	7.37:g.112412839C>T	ENSP00000323068:p.Ala515Thr		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.A515T	ENST00000312814.6	37	c.1543	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950224	0.73787	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.82	4.93	0.64822	.	0.044666	0.85682	D	0.000000	T	0.52805	0.1757	L	0.46157	1.445	0.80722	D	1	B	0.34181	0.44	B	0.33846	0.171	T	0.52946	-0.8507	9	0.42905	T	0.14	.	16.2877	0.82729	0.1336:0.8664:0.0:0.0	.	515	Q9H0V1	TM168_HUMAN	T	515;515;131;76	.	ENSP00000323068:A515T	A	-	1	0	TMEM168	112200075	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.909000	0.63314	1.443000	0.47586	-0.182000	0.12963	GCA	-	TMEM168	-	NULL		0.413	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	0	0		51	51		0.00		C	NM_022484		112412839	-1	17		43		tier1	no_errors	ENST00000312814	ensembl	human	known	74_37	missense	28.33		SNP	1.000	T	17	43
LRRC37A3	374819	genome.wustl.edu	37	17	62892267	62892267	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:62892267G>A	ENST00000584306.1	-	3	1639	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S370F|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	370						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GACCTCCCTAGAAGACTCAGA	0.537													ENSG00000176809																																					0													26.0	32.0	30.0					17																	62892267		1985	4103	6088	SO:0001583	missense	0			-	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1109C>T	17.37:g.62892267G>A	ENSP00000464535:p.Ser370Phe		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S370F	ENST00000584306.1	37	c.1109	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	11.54	1.670625	0.29693	.	.	ENSG00000176809	ENST00000319651	T	0.61742	0.08	2.69	0.354	0.16063	.	.	.	.	.	T	0.62612	0.2442	L	0.57536	1.79	0.09310	N	1	D	0.64830	0.994	P	0.59221	0.854	T	0.51810	-0.8658	9	0.66056	D	0.02	.	5.0561	0.14533	0.0:0.2327:0.5289:0.2383	.	370	O60309	L37A3_HUMAN	F	370	ENSP00000325713:S370F	ENSP00000325713:S370F	S	-	2	0	LRRC37A3	60322729	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.016000	0.13377	-0.000000	0.14550	0.281000	0.19383	TCT	-	LRRC37A3	-	NULL		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	0	0		227	227		0.00		G	NM_199340		62892267	-1	40		234		tier1	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	14.60		SNP	0.000	A	40	234
KCNQ1	3784	genome.wustl.edu	37	11	2797203	2797203	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:2797203C>G	ENST00000155840.5	+	13	1712	c.1604C>G	c.(1603-1605)cCt>cGt	p.P535R	KCNQ1_ENST00000335475.5_Missense_Mutation_p.P408R	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	535					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GCGCGGAAGCCTTACGATGTG	0.607													ENSG00000053918																																					0													87.0	69.0	75.0					11																	2797203		2189	4271	6460	SO:0001583	missense	0			-	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1604C>G	11.37:g.2797203C>G	ENSP00000155840:p.Pro535Arg		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.P535R	ENST00000155840.5	37	c.1604	CCDS7736.1	11	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658836	0.67586	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99912	-7.95;-7.95	3.78	3.78	0.43462	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.993	D	0.95663	0.8717	10	0.87932	D	0	-21.9027	13.4993	0.61445	0.0:1.0:0.0:0.0	.	408;408;535	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	R	535;408	ENSP00000155840:P535R;ENSP00000334497:P408R	ENSP00000155840:P535R	P	+	2	0	KCNQ1	2753779	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	6.995000	0.76257	2.118000	0.64928	0.561000	0.74099	CCT	-	KCNQ1	-	pfam_K_chnl_volt-dep_KCNQ_C		0.607	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	0	0		32	32		0.00		C	NM_000218		2797203	+1	13		28		tier1	no_errors	ENST00000155840	ensembl	human	known	74_37	missense	31.71		SNP	1.000	G	13	28
NSUN4	387338	genome.wustl.edu	37	1	46808971	46808971	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:46808971C>T	ENST00000474844.1	+	2	743				NSUN4_ENST00000537428.1_Intron|NSUN4_ENST00000536062.1_Intron|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4						rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTCTTTTATCCCTTTGAGAAC	0.547													ENSG00000117481																																					0																																										SO:0001627	intron_variant	0			-	AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.94-1502C>T	1.37:g.46808971C>T			A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	R	SNP	-	NULL	ENST00000474844.1	37	NULL	CCDS534.1	1																																																																																			-	NSUN4	-	-		0.547	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	0	0		14	14		0.00		C	NM_199044		46808971	+1	16		19		tier1	no_errors	ENST00000498008	ensembl	human	known	74_37	rna	45.71		SNP	0.998	T	16	19
SMC4	10051	genome.wustl.edu	37	3	160135545	160135545	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:160135545C>T	ENST00000357388.3	+	11	1923	c.1472C>T	c.(1471-1473)tCg>tTg	p.S491L	SMC4_ENST00000344722.5_Missense_Mutation_p.S491L|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.S466L|SMC4_ENST00000462787.1_Missense_Mutation_p.S491L|SMC4_ENST00000360111.2_Missense_Mutation_p.S491L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	491					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTCAGCAAATCGGTAAATGAA	0.363													ENSG00000113810																																					0													88.0	86.0	87.0					3																	160135545		2203	4299	6502	SO:0001583	missense	0			-	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1472C>T	3.37:g.160135545C>T	ENSP00000349961:p.Ser491Leu		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.S491L	ENST00000357388.3	37	c.1472	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545788	0.45280	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.93	2.01	0.26516	RecF/RecN/SMC (1);	0.270254	0.42172	N	0.000743	T	0.64649	0.2617	L	0.39898	1.24	0.30935	N	0.726497	B;B;B;B	0.25441	0.008;0.042;0.004;0.126	B;B;B;B	0.20184	0.004;0.028;0.003;0.021	T	0.59658	-0.7413	10	0.51188	T	0.08	-0.3308	6.414	0.21705	0.1149:0.6139:0.0:0.2712	.	491;466;466;491	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	L	491;491;466;491;491;85	ENSP00000349961:S491L;ENSP00000353225:S491L;ENSP00000417964:S466L;ENSP00000420734:S491L;ENSP00000341382:S491L	ENSP00000341382:S491L	S	+	2	0	SMC4	161618239	0.183000	0.23186	0.155000	0.22561	0.948000	0.59901	0.781000	0.26774	0.078000	0.16900	-0.136000	0.14681	TCG	-	SMC4	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.363	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	0	0		78	78		0.00		C			160135545	+1	38		88		tier1	no_errors	ENST00000344722	ensembl	human	known	74_37	missense	30.16		SNP	0.726	T	38	88
CCDC168	643677	genome.wustl.edu	37	13	103385281	103385281	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:103385281G>A	ENST00000322527.2	-	1	3878	c.3879C>T	c.(3877-3879)ttC>ttT	p.F1293F		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1293																	TCCAGGGAGGGAATAGGGACT	0.418													ENSG00000175820																																					0													95.0	75.0	81.0					13																	103385281		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.3879C>T	13.37:g.103385281G>A			Q8N800	Silent	SNP	NULL	p.F1293	ENST00000322527.2	37	c.3879		13																																																																																			-	CCDC168	-	NULL		0.418	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		0	0		64	64		0.00		G	NM_001146197		103385281	-1	20		46		tier1	no_errors	ENST00000322527	ensembl	human	known	74_37	silent	30.30		SNP	0.000	A	20	46
MYO1F	4542	genome.wustl.edu	37	19	8601415	8601415	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8601415G>A	ENST00000338257.8	-	18	2133	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	622	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGCGGCGGTAGGCGAAGCCGG	0.647													ENSG00000142347																																					0													52.0	64.0	60.0					19																	8601415		2018	4174	6192	SO:0001819	synonymous_variant	0			-	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1866C>T	19.37:g.8601415G>A			Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.A622	ENST00000338257.8	37	c.1866	CCDS42494.1	19																																																																																			-	MYO1F	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	0	0		47	47		0.00		G			8601415	-1	30		40		tier1	no_errors	ENST00000338257	ensembl	human	known	74_37	silent	42.86		SNP	0.999	A	30	40
WEE2	494551	genome.wustl.edu	37	7	141420740	141420740	+	Missense_Mutation	SNP	C	C	T	rs201995482		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:141420740C>T	ENST00000397541.2	+	5	1170	c.764C>T	c.(763-765)tCg>tTg	p.S255L	WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CATAGGAATTCGGCTTTGCAT	0.403													ENSG00000214102																																					0								C	LEU/SER	0,3758		0,0,1879	145.0	138.0	140.0		764	-5.8	0.0	7		140	1,8217		0,1,4108	no	missense	WEE2	NM_001105558.1	145	0,1,5987	TT,TC,CC		0.0122,0.0,0.0084	benign	255/568	141420740	1,11975	1879	4109	5988	SO:0001583	missense	0			-	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.764C>T	7.37:g.141420740C>T	ENSP00000380675:p.Ser255Leu			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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom	p.S255L	ENST00000397541.2	37	c.764	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831169	0.50845	0.0	1.22E-4	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.66280	-0.2;-0.2	5.32	-5.85	0.02311	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.454951	0.19240	N	0.119199	T	0.37461	0.1004	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09487	-1.0672	10	0.24483	T	0.36	.	15.7237	0.77736	0.0:0.5834:0.0:0.4166	.	255	P0C1S8	WEE2_HUMAN	L	255;30	ENSP00000380675:S255L;ENSP00000420388:S30L	ENSP00000380675:S255L	S	+	2	0	WEE2	141067209	0.128000	0.22383	0.000000	0.03702	0.964000	0.63967	0.461000	0.21940	-0.970000	0.03569	-0.946000	0.02672	TCG	rs201995482	WEE2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom		0.403	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	0	0		46	46		0.00		C	NM_001105558		141420740	+1	15		69		tier1	no_errors	ENST00000397541	ensembl	human	known	74_37	missense	17.86		SNP	0.360	T	15	69
EFCAB1	79645	genome.wustl.edu	37	8	49642353	49642353	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:49642353G>A	ENST00000262103.3	-	4	477	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	EFCAB1_ENST00000523092.1_Missense_Mutation_p.L81F|EFCAB1_ENST00000433756.1_Missense_Mutation_p.L81F|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	133	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TGTTTGAGAAGGCTGTTCTTC	0.333													ENSG00000034239																																					0													109.0	104.0	106.0					8																	49642353		2202	4300	6502	SO:0001583	missense	0			-		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.397C>T	8.37:g.49642353G>A	ENSP00000262103:p.Leu133Phe		B4DSB4|E7EVN7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.L133F	ENST00000262103.3	37	c.397	CCDS6145.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.150109|4.150109	0.78001|0.78001	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000522254	T;T;T|.	0.72942|.	-0.7;-0.7;-0.7|.	5.46|5.46	5.46|5.46	0.80206|0.80206	EF-hand-like domain (1);|.	0.052910|.	0.85682|.	D|.	0.000000|.	T|T	0.76969|0.76969	0.4062|0.4062	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.911;1.0|.	P;D|.	0.79784|.	0.646;0.993|.	T|T	0.76669|0.76669	-0.2874|-0.2874	10|5	0.54805|.	T|.	0.06|.	.|.	16.8609|16.8609	0.86018|0.86018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81;133|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	F|L	81;133;133;81|50	ENSP00000400873:L81F;ENSP00000262103:L133F;ENSP00000430765:L81F|.	ENSP00000262103:L133F|.	L|P	-|-	1|2	0|0	EFCAB1|EFCAB1	49804906|49804906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.399000|6.399000	0.73248|0.73248	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CTT|CCT	-	EFCAB1	-	pfscan_EF_hand_dom,prints_Recoverin		0.333	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	0	0		98	98		0.00		G	NM_024593		49642353	-1	33		77		tier1	no_errors	ENST00000262103	ensembl	human	known	74_37	missense	30.00		SNP	1.000	A	33	77
MRPS21	54460	genome.wustl.edu	37	1	150280620	150280620	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:150280620C>A	ENST00000369084.5	+	2	669	c.222C>A	c.(220-222)ttC>ttA	p.F74L	MRPS21_ENST00000309092.7_Missense_Mutation_p.F74L	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	74					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGATCAACTTCTTGATGCGAA	0.547													ENSG00000187145																																					0													55.0	50.0	52.0					1																	150280620		2203	4300	6503	SO:0001583	missense	0			-	AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"""Mitochondrial ribosomal proteins / small subunits"""	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.222C>A	1.37:g.150280620C>A	ENSP00000358080:p.Phe74Leu		Q5TB11|Q9BST6	Missense_Mutation	SNP	pfam_Ribosomal_S21,tigrfam_Ribosomal_S21	p.F74L	ENST00000369084.5	37	c.222	CCDS950.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396449	0.62177	.	.	ENSG00000187145	ENST00000309092;ENST00000369084	T;T	0.35048	1.33;1.33	4.94	3.97	0.46021	.	.	.	.	.	T	0.17619	0.0423	.	.	.	0.58432	D	0.999997	B	0.19935	0.04	B	0.20384	0.029	T	0.06899	-1.0801	8	0.62326	D	0.03	.	11.8747	0.52539	0.0:0.9066:0.0:0.0934	.	74	P82921	RT21_HUMAN	L	74	ENSP00000312395:F74L;ENSP00000358080:F74L	ENSP00000312395:F74L	F	+	3	2	MRPS21	148547244	0.924000	0.31332	1.000000	0.80357	0.991000	0.79684	1.269000	0.33074	1.177000	0.42855	0.655000	0.94253	TTC	-	MRPS21	-	NULL		0.547	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MRPS21	HGNC	protein_coding	OTTHUMT00000035813.1	0	0		45	45		0.00		C	NM_018997		150280620	+1	33		20		tier1	no_errors	ENST00000309092	ensembl	human	known	74_37	missense	62.26		SNP	1.000	A	33	20
FOXM1	2305	genome.wustl.edu	37	12	2977887	2977887	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:2977887G>T	ENST00000359843.3	-	4	756	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.Q230K|FOXM1_ENST00000342628.2_Missense_Mutation_p.Q230K	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	230					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACAGAGTTCTGCCAGGACGCT	0.512													ENSG00000111206																																					0													150.0	133.0	139.0					12																	2977887		2203	4300	6503	SO:0001583	missense	0			-	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.688C>A	12.37:g.2977887G>T	ENSP00000352901:p.Gln230Lys		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q230K	ENST00000359843.3	37	c.688	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249393	0.59103	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92858	-3.0;-3.12;-3.02	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.461165	0.25277	N	0.031840	D	0.88097	0.6345	L	0.29908	0.895	0.42644	D	0.993423	B;B;B;B;B	0.18968	0.032;0.015;0.025;0.015;0.02	B;B;B;B;B	0.24394	0.012;0.021;0.028;0.021;0.053	T	0.82993	-0.0181	10	0.21014	T	0.42	.	18.7398	0.91769	0.0:0.0:1.0:0.0	.	229;230;230;230;230	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	K	230	ENSP00000342307:Q230K;ENSP00000354492:Q230K;ENSP00000352901:Q230K	ENSP00000342307:Q230K	Q	-	1	0	FOXM1	2848148	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	3.530000	0.53539	2.656000	0.90262	0.655000	0.94253	CAG	-	FOXM1	-	NULL		0.512	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	0	0		75	75		0.00		G	NM_021953		2977887	-1	35		54		tier1	no_errors	ENST00000342628	ensembl	human	known	74_37	missense	39.33		SNP	1.000	T	35	54
COL12A1	1303	genome.wustl.edu	37	6	75884929	75884929	+	Silent	SNP	G	G	A	rs372378385		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:75884929G>A	ENST00000322507.8	-	13	2844	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	COL12A1_ENST00000483888.2_Silent_p.L845L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.L845L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	845	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATATGTGACGAGATACTGTT	0.473													ENSG00000111799																																					0								G	,	0,3792		0,0,1896	194.0	186.0	189.0		2535,	-11.6	0.0	6		189	1,8221		0,1,4110	no	coding-synonymous,intron	COL12A1	NM_004370.5,NM_080645.2	,	0,1,6006	AA,AG,GG		0.0122,0.0,0.0083	,	845/3064,	75884929	1,12013	1896	4111	6007	SO:0001819	synonymous_variant	0			-	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2535C>T	6.37:g.75884929G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,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.L845	ENST00000322507.8	37	c.2535	CCDS43482.1	6																																																																																			-	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	0	0		63	63		0.00		G	NM_004370		75884929	-1	19		54		tier1	no_errors	ENST00000322507	ensembl	human	known	74_37	silent	26.03		SNP	0.002	A	19	54
WDR66	144406	genome.wustl.edu	37	12	122398649	122398649	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:122398649G>A	ENST00000288912.4	+	14	3146	c.2292G>A	c.(2290-2292)ggG>ggA	p.G764G	WDR66_ENST00000397454.2_Silent_p.G764G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	764							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGCCTTGGGACAGACAGGC	0.517													ENSG00000158023																									Esophageal Squamous(85;849 1794 49757 52143)												0													85.0	83.0	83.0					12																	122398649		1969	4162	6131	SO:0001819	synonymous_variant	0			-	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2292G>A	12.37:g.122398649G>A			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G764	ENST00000288912.4	37	c.2292	CCDS41853.1	12																																																																																			-	WDR66	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.517	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	0	0		55	55		0.00		G	NM_144668		122398649	+1	26		30		tier1	no_errors	ENST00000288912	ensembl	human	known	74_37	silent	46.43		SNP	0.000	A	26	30
CHEK2P2	646096	genome.wustl.edu	37	15	20496719	20496719	+	RNA	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:20496719T>A	ENST00000555186.1	+	0	772					NR_038836.1				checkpoint kinase 2 pseudogene 2																		GAAATGTACCTTCTTTCACTC	0.408													ENSG00000259156																																					0																																												0			-			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496719T>A				R	SNP	-	NULL	ENST00000555186.1	37	NULL		15																																																																																			-	CHEK2P2	-	-		0.408	CHEK2P2-002	KNOWN	basic	processed_transcript	CHEK2P2	HGNC	pseudogene	OTTHUMT00000414654.1	0	0		101	101		0.00		T	NR_038836		20496719	+1	21		44		tier1	no_errors	ENST00000555186	ensembl	human	known	74_37	rna	32.31		SNP	0.003	A	21	44
FOLR3	2352	genome.wustl.edu	37	11	71850435	71850435	+	Silent	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:71850435G>T	ENST00000445078.2	+	4	593	c.522G>T	c.(520-522)ctG>ctT	p.L174L	FOLR3_ENST00000442948.2_Silent_p.L133L|FOLR3_ENST00000456237.1_Silent_p.L176L			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	132					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACGTGCCCCTGTGCAAAGAGG	0.567													ENSG00000110203																																					0													25.0	24.0	25.0					11																	71850435		2199	4289	6488	SO:0001819	synonymous_variant	0			-	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.522G>T	11.37:g.71850435G>T			J3KQ90|Q05C14	Silent	SNP	pfam_Folate_rcpt-like	p.L176	ENST00000445078.2	37	c.528		11																																																																																			-	FOLR3	-	pfam_Folate_rcpt-like		0.567	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	0	0		82	82		0.00		G	NM_000804		71850435	+1	32		61		tier1	no_errors	ENST00000456237	ensembl	human	known	74_37	silent	34.41		SNP	1.000	T	32	61
TTI1	9675	genome.wustl.edu	37	20	36641177	36641177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:36641177G>A	ENST00000373448.2	-	3	1280	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	TTI1_ENST00000449821.1_Nonsense_Mutation_p.Q348*|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Nonsense_Mutation_p.Q348*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	348					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CACTGGGCTTGGATTTCAGGA	0.468													ENSG00000101407																																					0													132.0	134.0	134.0					20																	36641177		2203	4300	6503	SO:0001587	stop_gained	0			-	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1042C>T	20.37:g.36641177G>A	ENSP00000362547:p.Gln348*		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.Q348*	ENST00000373448.2	37	c.1042	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.319515	0.95682	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.64	5.64	0.86602	.	0.170867	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-13.9071	18.8715	0.92317	0.0:0.0:1.0:0.0	.	.	.	.	X	348	.	ENSP00000362546:Q348X	Q	-	1	0	TTI1	36074591	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.403000	0.66338	2.937000	0.99478	0.650000	0.86243	CAA	-	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.468	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	0	0		28	28		0.00		G	NM_014657		36641177	-1	16		37		tier1	no_errors	ENST00000373447	ensembl	human	known	74_37	nonsense	29.09		SNP	1.000	A	16	37
ALOXE3	59344	genome.wustl.edu	37	17	8020268	8020268	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:8020268C>T	ENST00000448843.2	-	3	518	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ALOXE3_ENST00000318227.3_Missense_Mutation_p.E192K|ALOXE3_ENST00000380149.1_Missense_Mutation_p.E216K	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	60	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCACCCAGCTCCGCTGTGCAA	0.587													ENSG00000179148																																					0													69.0	49.0	56.0					17																	8020268		2203	4300	6503	SO:0001583	missense	0			-	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.178G>A	17.37:g.8020268C>T	ENSP00000400581:p.Glu60Lys		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C	p.E192K	ENST00000448843.2	37	c.574	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275378	0.40194	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.63255	-0.03;-0.03;-0.03	5.36	5.36	0.76844	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.404697	0.28914	N	0.013738	T	0.63534	0.2519	L	0.56769	1.78	0.42468	D	0.992814	B;B;B	0.25563	0.129;0.123;0.123	B;B;B	0.29440	0.102;0.102;0.102	T	0.64300	-0.6440	10	0.72032	D	0.01	-15.5831	18.217	0.89889	0.0:1.0:0.0:0.0	.	192;60;60	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	K	216;192;60	ENSP00000369494:E216K;ENSP00000314879:E192K;ENSP00000400581:E60K	ENSP00000314879:E192K	E	-	1	0	ALOXE3	7960993	0.409000	0.25368	0.943000	0.38184	0.031000	0.12232	2.112000	0.41892	2.662000	0.90505	0.555000	0.69702	GAG	-	ALOXE3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom		0.587	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	0	0		35	35		0.00		C			8020268	-1	11		63		tier1	no_errors	ENST00000318227	ensembl	human	known	74_37	missense	14.86		SNP	0.983	T	11	63
RICTOR	253260	genome.wustl.edu	37	5	38962592	38962592	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:38962592G>T	ENST00000357387.3	-	18	1693	c.1663C>A	c.(1663-1665)Ctt>Att	p.L555I	RICTOR_ENST00000296782.5_Missense_Mutation_p.L555I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CATACCTTAAGAATGGTCCCT	0.294													ENSG00000164327																																					0													46.0	48.0	47.0					5																	38962592		2197	4284	6481	SO:0001583	missense	0			-		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1663C>A	5.37:g.38962592G>T	ENSP00000349959:p.Leu555Ile			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L555I	ENST00000357387.3	37	c.1663	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415736	0.83449	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.50277	0.76;0.75	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.44542	1.39	0.58432	D	0.999996	D;D	0.67145	0.965;0.996	P;D	0.75484	0.79;0.986	T	0.61441	-0.7062	10	0.87932	D	0	-12.9698	12.6118	0.56556	0.0763:0.0:0.9237:0.0	.	555;555	Q6R327;Q6R327-3	RICTR_HUMAN;.	I	555	ENSP00000349959:L555I;ENSP00000296782:L555I	ENSP00000296782:L555I	L	-	1	0	RICTOR	38998349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.510000	0.60455	2.623000	0.88846	0.563000	0.77884	CTT	-	RICTOR	-	NULL		0.294	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	0	0		59	59		0.00		G	NM_152756		38962592	-1	30		51		tier1	no_errors	ENST00000296782	ensembl	human	known	74_37	missense	37.04		SNP	1.000	T	30	51
RPL10A	4736	genome.wustl.edu	37	6	35436188	35436188	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35436188C>T	ENST00000322203.6	+	0	4				RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a						anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						AGTCTCTTTTCCGGTTAGCGC	0.602											OREG0017378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000198755																																					0													98.0	88.0	92.0					6																	35436188		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.-24C>T	6.37:g.35436188C>T		855	B2R801|P52859|P53025|Q5TZT6|Q8J013	R	SNP	-	NULL	ENST00000322203.6	37	NULL	CCDS4806.1	6																																																																																			-	RPL10A	-	-		0.602	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10A	HGNC	protein_coding	OTTHUMT00000040283.1	0	0		35	35		0.00		C	NM_007104		35436188	+1	13		34		tier1	no_errors	ENST00000467020	ensembl	human	known	74_37	rna	27.66		SNP	0.961	T	13	34
PCLO	27445	genome.wustl.edu	37	7	82544878	82544878	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82544878G>A	ENST00000333891.9	-	7	12761	c.12424C>T	c.(12424-12426)Ctt>Ttt	p.L4142F	PCLO_ENST00000423517.2_Missense_Mutation_p.L4142F|PCLO_ENST00000437081.1_Missense_Mutation_p.L862F	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						AGACCAGCAAGGTGATCTAAG	0.413													ENSG00000186472																																					0													132.0	123.0	126.0					7																	82544878		1891	4114	6005	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.12424C>T	7.37:g.82544878G>A	ENSP00000334319:p.Leu4142Phe			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.L4142F	ENST00000333891.9	37	c.12424	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927772	0.34002	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18810	2.19;2.19	5.57	5.57	0.84162	.	.	.	.	.	T	0.45418	0.1341	M	0.66939	2.045	0.50171	D	0.999857	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.37337	-0.9710	9	0.87932	D	0	.	14.7801	0.69760	0.071:0.0:0.929:0.0	.	4073;4142;4142	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	F	4142;4142;862	ENSP00000334319:L4142F;ENSP00000388393:L4142F	ENSP00000334319:L4142F	L	-	1	0	PCLO	82382814	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.788000	0.55446	2.614000	0.88457	0.557000	0.71058	CTT	-	PCLO	-	NULL		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		64	64		0.00		G	NM_014510		82544878	-1	15		45		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	25.00		SNP	1.000	A	15	45
PRG4	10216	genome.wustl.edu	37	1	186276983	186276983	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:186276983G>A	ENST00000445192.2	+	7	2177	c.2132G>A	c.(2131-2133)gGg>gAg	p.G711E	PRG4_ENST00000367483.4_Missense_Mutation_p.G670E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.G668E|PRG4_ENST00000367485.4_Missense_Mutation_p.G618E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	711	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G711V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAAGGGACTGCTCCA	0.587													ENSG00000116690																																					1	Substitution - Missense(1)	lung(1)											163.0	176.0	172.0					1																	186276983		2203	4300	6503	SO:0001583	missense	0			-	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2132G>A	1.37:g.186276983G>A	ENSP00000399679:p.Gly711Glu		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.G711E	ENST00000445192.2	37	c.2132	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	2.210	-0.380902	0.05000	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05025	3.51;3.62;3.51;3.63	1.73	-3.46	0.04767	.	1.015200	0.07918	N	0.975452	T	0.01976	0.0062	N	0.02315	-0.6	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45731	-0.9241	9	.	.	.	.	3.0448	0.06149	0.5619:0.0:0.2398:0.1983	.	577;618;711;670	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	668;577;670;618;711	ENSP00000356456:G668E;ENSP00000356453:G670E;ENSP00000356455:G618E;ENSP00000399679:G711E	.	G	+	2	0	PRG4	184543606	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-2.696000	0.00827	-1.321000	0.02281	0.064000	0.15345	GGG	-	PRG4	-	NULL		0.587	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	1	1		133	133		0.74		G	NM_005807		186276983	+1	91		121		tier1	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	42.72		SNP	0.000	A	91	121
PLEC	5339	genome.wustl.edu	37	8	144991328	144991328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144991328G>A	ENST00000322810.4	-	32	13241	c.13072C>T	c.(13072-13074)Cag>Tag	p.Q4358*	PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q4225*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q4189*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q4221*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q4221*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q4207*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q4244*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q4199*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q4248*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4358	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCGGTACTGGTCCAGTGCC	0.652													ENSG00000178209																																					0													50.0	64.0	59.0					8																	144991328		2136	4229	6365	SO:0001587	stop_gained	0			-	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13072C>T	8.37:g.144991328G>A	ENSP00000323856:p.Gln4358*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q4358*	ENST00000322810.4	37	c.13072	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	54	22.329381	0.99947	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.24	5.24	0.73138	.	0.190111	0.33691	U	0.004646	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.6231	0.91328	0.0:0.0:1.0:0.0	.	.	.	.	X	4221;4225;4221;4189;4358;4199;4207;4248;4244	.	ENSP00000323856:Q4358X	Q	-	1	0	PLEC	145063316	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.402000	0.73260	2.726000	0.93360	0.549000	0.68633	CAG	-	PLEC	-	NULL		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	0	0		19	19		0.00		G	NM_000445		144991328	-1	4		18		tier1	no_errors	ENST00000322810	ensembl	human	known	74_37	nonsense	18.18		SNP	1.000	A	4	18
DHDDS	79947	genome.wustl.edu	37	1	26793713	26793713	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:26793713C>T	ENST00000236342.7	+	9	858				DHDDS_ENST00000525682.2_Intron|DHDDS_ENST00000360009.2_Intron|DHDDS_ENST00000526219.1_Intron|RP3-476K8.3_ENST00000423060.1_RNA			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		tacaatcagcctgtaagcacc	0.507													ENSG00000225891																																					0																																										SO:0001627	intron_variant	0			-	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.766-1673C>T	1.37:g.26793713C>T			B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	R	SNP	-	NULL	ENST00000236342.7	37	NULL	CCDS282.1	1																																																																																			-	RP3-476K8.3	-	-		0.507	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000225891	Clone_based_vega_gene	protein_coding	OTTHUMT00000392504.1	0	0		35	35		0.00		C	NM_024887		26793713	-1	22		46		tier1	no_errors	ENST00000423060	ensembl	human	known	74_37	rna	32.35		SNP	0.003	T	22	46
ABCG4	64137	genome.wustl.edu	37	11	119024743	119024743	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:119024743G>A	ENST00000449422.2	+	3	434	c.246G>A	c.(244-246)aaG>aaA	p.K82K	ABCG4_ENST00000531739.1_Silent_p.K82K|ABCG4_ENST00000307417.3_Silent_p.K82K	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	82	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGGTTATAAGACCCTTCTCA	0.507													ENSG00000172350																																					0													106.0	113.0	111.0					11																	119024743		2200	4295	6495	SO:0001819	synonymous_variant	0			-	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.246G>A	11.37:g.119024743G>A			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K82	ENST00000449422.2	37	c.246	CCDS8415.1	11																																																																																			-	ABCG4	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.507	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	0	0		36	36		0.00		G	NM_022169		119024743	+1	24		34		tier1	no_errors	ENST00000307417	ensembl	human	known	74_37	silent	41.38		SNP	1.000	A	24	34
C2CD5	9847	genome.wustl.edu	37	12	22672105	22672105	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:22672105G>A	ENST00000333957.4	-	8	1056				C2CD5_ENST00000446597.1_Intron|C2CD5_ENST00000544930.1_Missense_Mutation_p.T92I|C2CD5_ENST00000396028.2_Missense_Mutation_p.T290I|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000542676.1_Intron|C2CD5_ENST00000536386.1_Missense_Mutation_p.T290I|C2CD5_ENST00000545552.1_Missense_Mutation_p.T290I	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5						cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TCGTGAGCCAGTAGCAGTGTG	0.522													ENSG00000111731																																					0																																										SO:0001627	intron_variant	0			-	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.801-1034C>T	12.37:g.22672105G>A			B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	NULL	p.T92I	ENST00000333957.4	37	c.275	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050306	0.36181	.	.	ENSG00000111731	ENST00000536386;ENST00000396028;ENST00000545552;ENST00000544930	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.96	5.96	0.96718	.	0.129880	0.64402	D	0.000001	T	0.41949	0.1181	.	.	.	0.41194	D	0.986323	B;B;B;B	0.16603	0.005;0.008;0.001;0.018	B;B;B;B	0.17722	0.006;0.009;0.001;0.019	T	0.15263	-1.0443	9	0.48119	T	0.1	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	290;92;290;290	F5H2A1;F5H3N1;B7ZLL0;Q86YS7-2	.;.;.;.	I	290;290;290;92	ENSP00000439392:T290I;ENSP00000379345:T290I;ENSP00000443204:T290I;ENSP00000445288:T92I	ENSP00000379345:T290I	T	-	2	0	KIAA0528	22563372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.929000	0.75852	2.832000	0.97577	0.655000	0.94253	ACT	-	C2CD5	-	NULL		0.522	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD5	HGNC	protein_coding	OTTHUMT00000402257.1	0	0		98	98		0.00		G	NM_014802		22672105	-1	23		87		tier1	no_errors	ENST00000544930	ensembl	human	known	74_37	missense	20.91		SNP	1.000	A	23	87
MIPOL1	145282	genome.wustl.edu	37	14	37737910	37737910	+	Missense_Mutation	SNP	C	C	T	rs527856974		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:37737910C>T	ENST00000327441.7	+	6	765	c.299C>T	c.(298-300)cCt>cTt	p.P100L	MIPOL1_ENST00000556451.1_Missense_Mutation_p.P69L|MIPOL1_ENST00000545536.1_Missense_Mutation_p.P69L|MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000539062.2_Missense_Mutation_p.P69L|MIPOL1_ENST00000396294.2_Missense_Mutation_p.P100L|MIPOL1_ENST00000537471.1_Missense_Mutation_p.P100L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	100						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGTATGACTCCTTGTCAAGTT	0.289													ENSG00000151338	C|||	1	0.000199681	0.0008	0.0	5008	,	,		19152	0.0		0.0	False		,,,				2504	0.0																0													117.0	124.0	122.0					14																	37737910		2203	4291	6494	SO:0001583	missense	0			-	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.299C>T	14.37:g.37737910C>T	ENSP00000333539:p.Pro100Leu		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	NULL	p.P100L	ENST00000327441.7	37	c.299	CCDS9664.1	14	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033559	0.54896	.	.	ENSG00000151338	ENST00000556615;ENST00000327441;ENST00000539062;ENST00000556451;ENST00000556753;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.47177	0.86;0.89;0.85;0.86;0.86;0.85	5.36	4.46	0.54185	.	0.442556	0.22835	N	0.055050	T	0.49287	0.1548	L	0.56769	1.78	0.80722	D	1	P;P	0.43662	0.804;0.814	B;P	0.44860	0.307;0.462	T	0.45145	-0.9281	10	0.34782	T	0.22	-0.8394	13.6048	0.62041	0.155:0.845:0.0:0.0	.	100;69	Q8TD10;Q49AL5	MIPO1_HUMAN;.	L	100;100;69;69;100;100;100;69	ENSP00000333539:P100L;ENSP00000438319:P69L;ENSP00000450479:P69L;ENSP00000379589:P100L;ENSP00000444254:P100L;ENSP00000442529:P69L	ENSP00000333539:P100L	P	+	2	0	MIPOL1	36807661	0.953000	0.32496	0.986000	0.45419	0.250000	0.25880	3.244000	0.51399	1.226000	0.43582	0.591000	0.81541	CCT	-	MIPOL1	-	NULL		0.289	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPOL1	HGNC	protein_coding	OTTHUMT00000276734.1	0	0		65	65		0.00		C	NM_138731		37737910	+1	11		35		tier1	no_errors	ENST00000327441	ensembl	human	known	74_37	missense	23.91		SNP	0.992	T	11	35
CRP	1401	genome.wustl.edu	37	1	159683514	159683514	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:159683514G>A	ENST00000255030.5	-	2	579	c.476C>T	c.(475-477)tCc>tTc	p.S159F	CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000473196.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	159	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CCCACCGAAGGAATCCTGCTC	0.522													ENSG00000132693																																					0													231.0	230.0	230.0					1																	159683514		2203	4300	6503	SO:0001583	missense	0			-	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.476C>T	1.37:g.159683514G>A	ENSP00000255030:p.Ser159Phe		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.S159F	ENST00000255030.5	37	c.476	CCDS30911.1	1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349677	0.41599	.	.	ENSG00000132693	ENST00000255030	T	0.10192	2.9	4.34	3.41	0.39046	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.600747	0.16770	N	0.200249	T	0.24431	0.0592	M	0.93507	3.425	0.09310	N	0.999996	D	0.89917	1.0	D	0.75020	0.985	T	0.16897	-1.0387	10	0.59425	D	0.04	-6.5832	7.3953	0.26934	0.0:0.186:0.622:0.192	.	159	P02741	CRP_HUMAN	F	159	ENSP00000255030:S159F	ENSP00000255030:S159F	S	-	2	0	CRP	157950138	0.000000	0.05858	0.261000	0.24466	0.821000	0.46438	0.639000	0.24690	0.772000	0.33382	0.650000	0.86243	TCC	-	CRP	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.522	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRP	HGNC	protein_coding	OTTHUMT00000085553.1	0	0		33	33		0.00		G	NM_000567		159683514	-1	17		35		tier1	no_errors	ENST00000255030	ensembl	human	known	74_37	missense	32.69		SNP	0.049	A	17	35
BPIFB6	128859	genome.wustl.edu	37	20	31627169	31627169	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31627169C>T	ENST00000349552.1	+	10	917	c.917C>T	c.(916-918)cCc>cTc	p.P306L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	306						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GTAGCTTATCCCAAGTCAAAG	0.517													ENSG00000167104																																					0													95.0	99.0	98.0					20																	31627169		2203	4300	6503	SO:0001583	missense	0			-	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.917C>T	20.37:g.31627169C>T	ENSP00000344929:p.Pro306Leu			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_C	p.P306L	ENST00000349552.1	37	c.917	CCDS13211.1	20	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671926	0.29693	.	.	ENSG00000167104	ENST00000349552	T	0.27890	1.64	4.44	-0.18	0.13295	.	0.340355	0.25247	N	0.032047	T	0.47303	0.1438	M	0.77103	2.36	0.38133	D	0.938212	D	0.63880	0.993	D	0.68039	0.955	T	0.51293	-0.8724	10	0.62326	D	0.03	.	6.8134	0.23817	0.5215:0.3191:0.1594:0.0	.	306	Q8NFQ5	BPIB6_HUMAN	L	306	ENSP00000344929:P306L	ENSP00000344929:P306L	P	+	2	0	BPIFB6	31090830	0.246000	0.23909	0.956000	0.39512	0.028000	0.11728	0.063000	0.14410	0.423000	0.26033	0.561000	0.74099	CCC	-	BPIFB6	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.517	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB6	HGNC	protein_coding	OTTHUMT00000078658.2	0	0		86	86		0.00		C	NM_174897		31627169	+1	31		68		tier1	no_errors	ENST00000349552	ensembl	human	known	74_37	missense	31.31		SNP	0.780	T	31	68
ZIC2	7546	genome.wustl.edu	37	13	100635186	100635186	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:100635186G>A	ENST00000376335.3	+	1	1161	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	290					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTCTCGGTGGAGCACGTCGG	0.577													ENSG00000043355																									Pancreas(97;119 1522 31925 44771 48764)												0													119.0	119.0	119.0					13																	100635186		2203	4300	6503	SO:0001583	missense	0			-	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.868G>A	13.37:g.100635186G>A	ENSP00000365514:p.Glu290Lys		Q5VYA9|Q9H309	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E290K	ENST00000376335.3	37	c.868	CCDS9495.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.147723	0.94603	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.91237	-2.81	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.95674	0.8593	M	0.86178	2.8	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.96227	0.9165	10	0.87932	D	0	.	18.1567	0.89693	0.0:0.0:1.0:0.0	.	290	O95409	ZIC2_HUMAN	K	290;39	ENSP00000365514:E290K	ENSP00000365514:E290K	E	+	1	0	ZIC2	99433187	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.601000	0.98297	2.610000	0.88304	0.561000	0.74099	GAG	-	ZIC2	-	smart_Znf_C2H2-like		0.577	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	0	0		42	42		0.00		G	NM_007129		100635186	+1	11		18		tier1	no_errors	ENST00000376335	ensembl	human	known	74_37	missense	36.67		SNP	1.000	A	11	18
RFX6	222546	genome.wustl.edu	37	6	117198534	117198534	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:117198534C>T	ENST00000332958.2	+	1	112	c.96C>T	c.(94-96)ctC>ctT	p.L32L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	32					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTGTGCAGCTCCTGGGCAAGG	0.667													ENSG00000185002																																					0													20.0	23.0	22.0					6																	117198534		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.96C>T	6.37:g.117198534C>T			Q5T6B3	Silent	SNP	pfam_D-bd_RFX	p.L32	ENST00000332958.2	37	c.96	CCDS5113.1	6																																																																																			-	RFX6	-	NULL		0.667	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	0	0		43	43		0.00		C	NM_173560		117198534	+1	13		77		tier1	no_errors	ENST00000332958	ensembl	human	known	74_37	silent	14.44		SNP	0.711	T	13	77
NDST4	64579	genome.wustl.edu	37	4	115856466	115856466	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:115856466A>G	ENST00000264363.2	-	6	2110	c.1432T>C	c.(1432-1434)Ttg>Ctg	p.L478L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	478	Heparan sulfate N-deacetylase 4.				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)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGAGTGAACAACCCACAAGTC	0.398													ENSG00000138653																																					0													138.0	139.0	138.0					4																	115856466		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1432T>C	4.37:g.115856466A>G			Q2KHM8	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L478	ENST00000264363.2	37	c.1432	CCDS3706.1	4																																																																																			-	NDST4	-	pfam_Heparan_SO4_deacetylase		0.398	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	0	0		78	78		0.00		A	NM_022569		115856466	-1	30		59		tier1	no_errors	ENST00000264363	ensembl	human	known	74_37	silent	33.33		SNP	0.954	G	30	59
RMND5A	64795	genome.wustl.edu	37	2	86998741	86998741	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:86998741C>T	ENST00000283632.4	+	8	1513	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	340										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CCCCATTCTTCGTCAGCAAAC	0.348													ENSG00000153561																																					0													107.0	112.0	110.0					2																	86998741		2203	4300	6503	SO:0001583	missense	0			-	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.1018C>T	2.37:g.86998741C>T	ENSP00000283632:p.Arg340Cys		D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R340C	ENST00000283632.4	37	c.1018	CCDS1991.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190607	0.78789	.	.	ENSG00000153561	ENST00000283632	T	0.17370	2.28	5.85	5.85	0.93711	Zinc finger, RING/FYVE/PHD-type (1);	0.066760	0.64402	D	0.000006	T	0.54271	0.1848	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62859	-0.6765	10	0.87932	D	0	-14.1057	20.1562	0.98114	0.0:1.0:0.0:0.0	.	340	Q9H871	RMD5A_HUMAN	C	340	ENSP00000283632:R340C	ENSP00000283632:R340C	R	+	1	0	RMND5A	86852252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.748000	0.55142	2.772000	0.95346	0.655000	0.94253	CGT	-	RMND5A	-	NULL		0.348	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND5A	HGNC	protein_coding	OTTHUMT00000252591.2	0	0		107	107		0.00		C	NM_022780		86998741	+1	21		101		tier1	no_errors	ENST00000283632	ensembl	human	known	74_37	missense	17.07		SNP	1.000	T	21	101
SCAF4	57466	genome.wustl.edu	37	21	33057903	33057903	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:33057903G>A	ENST00000286835.7	-	17	2569	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	SCAF4_ENST00000399804.1_Silent_p.F729F|SCAF4_ENST00000434667.3_Silent_p.F714F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	729						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCATTGGGTTGAATCCTGGGC	0.493													ENSG00000156304																																					0													62.0	64.0	64.0					21																	33057903		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2187C>T	21.37:g.33057903G>A			C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.F729	ENST00000286835.7	37	c.2187	CCDS33537.1	21																																																																																			-	SCAF4	-	NULL		0.493	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	0	0		45	45		0.00		G	XM_047889		33057903	-1	25		38		tier1	no_errors	ENST00000286835	ensembl	human	known	74_37	silent	39.68		SNP	1.000	A	25	38
KAT6A	7994	genome.wustl.edu	37	8	41834533	41834533	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41834533C>A	ENST00000396930.3	-	8	1899	c.1356G>T	c.(1354-1356)tgG>tgT	p.W452C	KAT6A_ENST00000406337.1_Missense_Mutation_p.W452C|KAT6A_ENST00000485568.1_Missense_Mutation_p.W452C|KAT6A_ENST00000265713.2_Missense_Mutation_p.W452C	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	452	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TACCTGTGGGCCAATCTGAAG	0.408													ENSG00000083168																																					0													107.0	105.0	106.0					8																	41834533		2203	4300	6503	SO:0001583	missense	0			-	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1356G>T	8.37:g.41834533C>A	ENSP00000380136:p.Trp452Cys		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.W452C	ENST00000396930.3	37	c.1356	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130721	0.37630	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.83673	0.29;0.29;0.29;-1.75	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000002	D	0.85932	0.5812	N	0.22421	0.69	0.80722	D	1	P;D	0.76494	0.875;0.999	B;D	0.80764	0.237;0.994	D	0.86332	0.1699	10	0.44086	T	0.13	-11.2403	19.1629	0.93541	0.0:1.0:0.0:0.0	.	452;452	A5PLL3;Q92794	.;KAT6A_HUMAN	C	452	ENSP00000265713:W452C;ENSP00000385888:W452C;ENSP00000380136:W452C;ENSP00000430606:W452C	ENSP00000265713:W452C	W	-	3	0	KAT6A	41953690	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.490000	0.73645	2.515000	0.84797	0.650000	0.86243	TGG	-	KAT6A	-	NULL		0.408	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	0	0		51	51		0.00		C	NM_006766		41834533	-1	16		26		tier1	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	38.10		SNP	1.000	A	16	26
OLFML3	56944	genome.wustl.edu	37	1	114523970	114523970	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114523970G>A	ENST00000320334.4	+	3	874	c.800G>A	c.(799-801)gGc>gAc	p.G267D	OLFML3_ENST00000369551.1_Missense_Mutation_p.G247D|OLFML3_ENST00000393300.2_Missense_Mutation_p.G247D|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	267	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CCCCCCTACGGCTTGACAGCA	0.557													ENSG00000116774																																					0													75.0	67.0	70.0					1																	114523970		2203	4300	6503	SO:0001583	missense	0			-	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.800G>A	1.37:g.114523970G>A	ENSP00000322273:p.Gly267Asp		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.G267D	ENST00000320334.4	37	c.800	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782393	0.31502	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.88741	-2.42;-2.42;-2.42	5.96	4.03	0.46877	Olfactomedin-like (3);	0.236088	0.51477	D	0.000086	T	0.82139	0.4972	L	0.44542	1.39	0.24758	N	0.992945	P;B	0.51933	0.949;0.322	P;B	0.51516	0.672;0.176	T	0.76353	-0.2990	10	0.16896	T	0.51	.	16.3763	0.83401	0.0:0.2404:0.7596:0.0	.	247;267	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	D	247;267;247	ENSP00000358564:G247D;ENSP00000322273:G267D;ENSP00000376977:G247D	ENSP00000322273:G267D	G	+	2	0	OLFML3	114325493	0.255000	0.24002	0.789000	0.31954	0.114000	0.19823	1.557000	0.36299	0.798000	0.33994	0.655000	0.94253	GGC	-	OLFML3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.557	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	0	0		30	30		0.00		G	NM_020190		114523970	+1	10		18		tier1	no_errors	ENST00000320334	ensembl	human	known	74_37	missense	35.71		SNP	0.278	A	10	18
PSMF1	9491	genome.wustl.edu	37	20	1143805	1143805	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1143805G>A	ENST00000335877.6	+	5	759	c.583G>A	c.(583-585)Gga>Aga	p.G195R	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Missense_Mutation_p.G133R|PSMF1_ENST00000246015.4_Missense_Mutation_p.G195R|PSMF1_ENST00000333082.3_Missense_Mutation_p.G195R|PSMF1_ENST00000381898.4_Missense_Mutation_p.G107R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	195	Pro-rich.				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 endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TGTTGTCGGGGGAGAAGACTT	0.507													ENSG00000125818																																					0													155.0	109.0	125.0					20																	1143805		2203	4300	6503	SO:0001583	missense	0			-	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.583G>A	20.37:g.1143805G>A	ENSP00000338039:p.Gly195Arg		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	pfam_FP_dom,pfam_PI31_Prot_Reg	p.G195R	ENST00000335877.6	37	c.583	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280803	0.59758	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.40476	1.56;1.03;1.57;1.56;1.04	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	N	0.03881	-0.34	0.80722	D	1	P;D;D;P;P	0.89917	0.909;1.0;1.0;0.733;0.543	P;D;D;B;B	0.97110	0.666;1.0;1.0;0.376;0.287	T	0.26883	-1.0090	10	0.08381	T	0.77	-10.6408	16.8273	0.85934	0.0:0.0:1.0:0.0	.	133;107;107;195;195	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;.;PSMF1_HUMAN	R	195;107;195;195;133	ENSP00000327704:G195R;ENSP00000371323:G107R;ENSP00000246015:G195R;ENSP00000338039:G195R;ENSP00000401404:G133R	ENSP00000246015:G195R	G	+	1	0	PSMF1	1091805	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.096000	0.71446	2.735000	0.93741	0.561000	0.74099	GGA	-	PSMF1	-	pfam_PI31_Prot_Reg		0.507	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	0	0		85	85		0.00		G	NM_178578		1143805	+1	28		82		tier1	no_errors	ENST00000333082	ensembl	human	known	74_37	missense	25.45		SNP	1.000	A	28	82
CHRNG	1146	genome.wustl.edu	37	2	233410306	233410306	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233410306G>A	ENST00000389494.3	+	12	1455	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	CHRNG_ENST00000389492.3_Silent_p.L426L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	478					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TCTGCTTCCTGGCCATGCTCT	0.647													ENSG00000196811																																					0													119.0	89.0	99.0					2																	233410306		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1434G>A	2.37:g.233410306G>A			B3KWM8|Q14DU4|Q53RG2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.L478	ENST00000389494.3	37	c.1434	CCDS33400.1	2																																																																																			-	CHRNG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.647	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	0	0		31	31		0.00		G	NM_005199		233410306	+1	8		42		tier1	no_errors	ENST00000389494	ensembl	human	known	74_37	silent	16.00		SNP	1.000	A	8	42
NAV2	89797	genome.wustl.edu	37	11	20065565	20065565	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:20065565C>T	ENST00000396087.3	+	14	3114	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S	NAV2_ENST00000349880.4_Silent_p.S982S|NAV2_ENST00000311043.8_Silent_p.S68S|NAV2_ENST00000360655.4_Silent_p.S918S|NAV2_ENST00000527559.2_Silent_p.S934S|NAV2_ENST00000396085.1_Silent_p.S982S|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.S936S|NAV2_ENST00000533917.1_Silent_p.S68S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1005					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						AGAGGAATTCCCTGTGGTCTG	0.532													ENSG00000166833																																					0													95.0	97.0	96.0					11																	20065565		2203	4300	6503	SO:0001819	synonymous_variant	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.3015C>T	11.37:g.20065565C>T			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1005	ENST00000396087.3	37	c.3015	CCDS58126.1	11																																																																																			-	V2	-	NULL		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	V2	HGNC	protein_coding	OTTHUMT00000324112.1	0	0		67	67		0.00		C	NM_145117		20065565	+1	39		59		tier1	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	39.80		SNP	0.996	T	39	59
YKT6	10652	genome.wustl.edu	37	7	44244217	44244217	+	Missense_Mutation	SNP	C	C	T	rs141563755		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:44244217C>T	ENST00000223369.2	+	2	242	c.155C>T	c.(154-156)tCg>tTg	p.S52L	YKT6_ENST00000496112.1_Missense_Mutation_p.S52L|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	52	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						GAGCGCTCATCGAAAGGCACT	0.483													ENSG00000106636																																					0								C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	136.0	118.0	124.0		155	2.5	0.0	7	dbSNP_134	124	0,8600		0,0,4300	no	missense	YKT6	NM_006555.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	52/199	44244217	1,13005	2203	4300	6503	SO:0001583	missense	0			-	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.155C>T	7.37:g.44244217C>T	ENSP00000223369:p.Ser52Leu		B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin	p.S52L	ENST00000223369.2	37	c.155	CCDS5482.1	7	.	.	.	.	.	.	.	.	.	.	C	11.53	1.664901	0.29604	2.27E-4	0.0	ENSG00000106636	ENST00000496112;ENST00000223369	T;T	0.24908	1.83;1.83	5.55	2.52	0.30459	Longin (2);Longin-like (1);	0.491127	0.23616	N	0.046285	T	0.22781	0.0550	L	0.58810	1.83	0.09310	N	1	B;B	0.19073	0.033;0.033	B;B	0.24006	0.05;0.022	T	0.12941	-1.0528	10	0.30078	T	0.28	-11.9865	7.4538	0.27255	0.2421:0.483:0.2749:0.0	.	52;52	B4DR94;O15498	.;YKT6_HUMAN	L	52	ENSP00000420805:S52L;ENSP00000223369:S52L	ENSP00000223369:S52L	S	+	2	0	YKT6	44210742	0.000000	0.05858	0.028000	0.17463	0.759000	0.43091	0.268000	0.18571	1.324000	0.45282	0.650000	0.86243	TCG	rs141563755	YKT6	-	superfamily_Longin-like_dom,pfscan_Longin_dom		0.483	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YKT6	HGNC	protein_coding	OTTHUMT00000251125.2	0	0		73	73		0.00		C	NM_006555		44244217	+1	20		89		tier1	no_errors	ENST00000223369	ensembl	human	known	74_37	missense	18.35		SNP	0.040	T	20	89
NOL10	79954	genome.wustl.edu	37	2	10742991	10742991	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:10742991T>G	ENST00000381685.5	-	16	1348	c.1243A>C	c.(1243-1245)Atg>Ctg	p.M415L	AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Missense_Mutation_p.M365L|NOL10_ENST00000538384.1_Missense_Mutation_p.M389L|NOL10_ENST00000345985.3_Missense_Mutation_p.M365L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	415						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GGATTTACCATCAGTTTCACC	0.294													ENSG00000115761																																					0													86.0	89.0	88.0					2																	10742991		2201	4299	6500	SO:0001583	missense	0			-	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1243A>C	2.37:g.10742991T>G	ENSP00000371101:p.Met415Leu		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.M415L	ENST00000381685.5	37	c.1243	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304883	0.40795	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.38887	1.11;2.58;2.58;2.58	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	N	0.26130	0.795	0.80722	D	1	B;B;B	0.25955	0.001;0.001;0.138	B;B;B	0.21151	0.004;0.004;0.033	T	0.06588	-1.0818	10	0.30078	T	0.28	-13.1536	15.8894	0.79279	0.0:0.0:0.0:1.0	.	389;415;365	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	L	365;415;365;389	ENSP00000263837:M365L;ENSP00000371101:M415L;ENSP00000437625:M365L;ENSP00000439663:M389L	ENSP00000263837:M365L	M	-	1	0	NOL10	10660442	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.150000	0.67090	0.533000	0.62120	ATG	-	NOL10	-	NULL		0.294	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	0	0		62	62		0.00		T	NM_024894		10742991	-1	31		37		tier1	no_errors	ENST00000381685	ensembl	human	known	74_37	missense	45.59		SNP	1.000	G	31	37
TPST2	8459	genome.wustl.edu	37	22	26937025	26937025	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:26937025G>A	ENST00000338754.4	-	3	842	c.572C>T	c.(571-573)tCc>tTc	p.S191F	TPST2_ENST00000398110.2_Missense_Mutation_p.S191F|TPST2_ENST00000403880.1_Missense_Mutation_p.S191F	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	191					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGTGATCATGGAGTGCACGGA	0.597													ENSG00000128294																																					0													94.0	76.0	82.0					22																	26937025		2203	4300	6503	SO:0001583	missense	0			-	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.572C>T	22.37:g.26937025G>A	ENSP00000339813:p.Ser191Phe		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S191F	ENST00000338754.4	37	c.572	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047599	0.75846	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868	T;T;T	0.80653	-1.4;-1.4;-1.4	5.01	5.01	0.66863	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	D	0.93096	0.7802	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95316	0.8416	10	0.87932	D	0	-39.202	17.3291	0.87258	0.0:0.0:1.0:0.0	.	191	O60704	TPST2_HUMAN	F	191;191;191;124	ENSP00000339813:S191F;ENSP00000381180:S191F;ENSP00000385192:S191F	ENSP00000339813:S191F	S	-	2	0	TPST2	25267025	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.119000	0.94362	2.327000	0.79052	0.609000	0.83330	TCC	-	TPST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.597	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	0	0		61	61		0.00		G	NM_003595		26937025	-1	42		67		tier1	no_errors	ENST00000338754	ensembl	human	known	74_37	missense	38.53		SNP	1.000	A	42	67
NLRP3	114548	genome.wustl.edu	37	1	247611742	247611742	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247611742G>C	ENST00000336119.3	+	9	3793	c.3047G>C	c.(3046-3048)aGt>aCt	p.S1016T	NLRP3_ENST00000366496.2_Missense_Mutation_p.S959T|NLRP3_ENST00000366497.2_Missense_Mutation_p.S959T|NLRP3_ENST00000348069.2_Missense_Mutation_p.S902T|NLRP3_ENST00000391827.2_Missense_Mutation_p.S959T|NLRP3_ENST00000391828.3_Missense_Mutation_p.S1016T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1016					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGACAAAAAGTGCGTTAGAA	0.448													ENSG00000162711																																					0													108.0	110.0	109.0					1																	247611742		2203	4300	6503	SO:0001583	missense	0			-	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.3047G>C	1.37:g.247611742G>C	ENSP00000337383:p.Ser1016Thr		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.S1016T	ENST00000336119.3	37	c.3047	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	G	0.555	-0.847542	0.02651	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	4.36	0.329	0.15924	.	1.494490	0.04066	N	0.307234	T	0.22282	0.0537	N	0.02721	-0.515	0.09310	N	1	B;B;B;B;B	0.16396	0.0;0.0;0.017;0.006;0.004	B;B;B;B;B	0.22601	0.006;0.001;0.04;0.03;0.011	T	0.15378	-1.0439	10	0.19147	T	0.46	.	3.6317	0.08134	0.2844:0.0:0.5437:0.1718	.	996;959;902;959;1016	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	1016;959;1016;902;959;959	ENSP00000375704:S1016T;ENSP00000355453:S959T;ENSP00000337383:S1016T;ENSP00000294752:S902T;ENSP00000355452:S959T;ENSP00000375703:S959T	ENSP00000337383:S1016T	S	+	2	0	NLRP3	245678365	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.659000	0.05323	0.073000	0.16731	-0.343000	0.07986	AGT	-	NLRP3	-	NULL		0.448	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	0	0		147	147		0.00		G	NM_004895		247611742	+1	47		133		tier1	no_errors	ENST00000336119	ensembl	human	known	74_37	missense	25.82		SNP	0.000	C	47	133
GRIK5	2901	genome.wustl.edu	37	19	42566691	42566691	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42566691G>A	ENST00000262895.3	-	4	456	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	GRIK5_ENST00000301218.4_Missense_Mutation_p.L153F|GRIK5_ENST00000593562.1_Missense_Mutation_p.L153F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	153					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				AAGGACTTGAGGATTCGGGAG	0.587													ENSG00000105737																																					0													88.0	86.0	86.0					19																	42566691		2203	4300	6503	SO:0001583	missense	0			-		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.457C>T	19.37:g.42566691G>A	ENSP00000262895:p.Leu153Phe		Q8WWG8	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.L153F	ENST00000262895.3	37	c.457	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895922	0.72639	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.85339	-1.97;-1.97	5.19	4.16	0.48862	Extracellular ligand-binding receptor (1);	0.170093	0.38272	N	0.001745	D	0.90017	0.6883	M	0.63428	1.95	0.37362	D	0.911265	D	0.89917	1.0	D	0.81914	0.995	D	0.91836	0.5479	10	0.87932	D	0	.	11.4463	0.50125	0.0882:0.0:0.9118:0.0	.	153	Q16478	GRIK5_HUMAN	F	153	ENSP00000262895:L153F;ENSP00000301218:L153F	ENSP00000262895:L153F	L	-	1	0	GRIK5	47258531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.852000	0.69488	1.200000	0.43188	0.551000	0.68910	CTC	-	GRIK5	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.587	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	0	0		41	41		0.00		G			42566691	-1	25		54		tier1	no_errors	ENST00000301218	ensembl	human	known	74_37	missense	31.65		SNP	1.000	A	25	54
ITGA2B	3674	genome.wustl.edu	37	17	42452037	42452037	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42452037C>A	ENST00000262407.5	-	28	2964	c.2933G>T	c.(2932-2934)gGg>gTg	p.G978V	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	978					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CTGAGCTTCCCCTCGGGGCAG	0.632													ENSG00000005961																																					0													49.0	54.0	52.0					17																	42452037		2203	4300	6503	SO:0001583	missense	0			-		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2933G>T	17.37:g.42452037C>A	ENSP00000262407:p.Gly978Val		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G978V	ENST00000262407.5	37	c.2933	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712156	0.48517	.	.	ENSG00000005961	ENST00000262407	T	0.57273	0.41	4.75	4.75	0.60458	.	0.000000	0.35677	N	0.003042	T	0.74129	0.3676	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78277	-0.2266	10	0.66056	D	0.02	.	15.2608	0.73621	0.0:1.0:0.0:0.0	.	978	P08514	ITA2B_HUMAN	V	978	ENSP00000262407:G978V	ENSP00000262407:G978V	G	-	2	0	ITGA2B	39807563	0.071000	0.21146	0.972000	0.41901	0.072000	0.16883	1.352000	0.34033	2.469000	0.83416	0.561000	0.74099	GGG	-	ITGA2B	-	NULL		0.632	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1	0	0		43	43		0.00		C			42452037	-1	28		31		tier1	no_errors	ENST00000262407	ensembl	human	known	74_37	missense	47.46		SNP	0.972	A	28	31
ZNF208	7757	genome.wustl.edu	37	19	22156635	22156635	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:22156635C>T	ENST00000397126.4	-	4	1349	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.388													ENSG00000160321																																					0													41.0	45.0	44.0					19																	22156635		1985	4207	6192	SO:0001583	missense	0			-	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1201G>A	19.37:g.22156635C>T	ENSP00000380315:p.Glu401Lys			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.E401K	ENST00000397126.4	37	c.1201	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394807	0.25205	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07567	3.18	2.65	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	.	.	.	0.09310	N	1	P	0.41978	0.767	B	0.42738	0.396	T	0.25187	-1.0139	8	0.51188	T	0.08	.	11.6119	0.51064	0.0:0.7975:0.2025:0.0	.	401	O43345	ZN208_HUMAN	K	401	ENSP00000380315:E401K	ENSP00000380315:E401K	E	-	1	0	ZNF208	21948475	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.115000	0.03289	1.034000	0.39945	0.306000	0.20318	GAA	-	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	0	0		39	39		0.00		C	NM_007153		22156635	-1	17		12		tier1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	58.62		SNP	0.024	T	17	12
PTPRN2	5799	genome.wustl.edu	37	7	157475569	157475569	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:157475569C>T	ENST00000389418.4	-	13	1858	c.1849G>A	c.(1849-1851)Gcg>Acg	p.A617T	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A600T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A588T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A640T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A579T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	617					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGGTGAGCGCGATGAACTTG	0.577													ENSG00000155093																																					0													112.0	114.0	113.0					7																	157475569		2203	4300	6503	SO:0001583	missense	0			-	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1849G>A	7.37:g.157475569C>T	ENSP00000374069:p.Ala617Thr		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A640T	ENST00000389418.4	37	c.1918	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	8.289	0.817263	0.16607	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03035	4.08;4.09;4.08;4.08;4.07	4.73	-0.5	0.12012	.	0.650367	0.12584	N	0.456142	T	0.01287	0.0042	N	0.03608	-0.345	0.09310	N	0.999992	B;B;P;P;B	0.39094	0.248;0.063;0.576;0.659;0.063	B;B;B;B;B	0.31390	0.009;0.004;0.129;0.036;0.004	T	0.44787	-0.9305	10	0.59425	D	0.04	.	1.2533	0.01986	0.1275:0.2734:0.2811:0.318	.	640;579;588;600;617	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	579;588;600;617;640	ENSP00000387114:A579T;ENSP00000374064:A588T;ENSP00000374067:A600T;ENSP00000374069:A617T;ENSP00000385464:A640T	ENSP00000374064:A588T	A	-	1	0	PTPRN2	157168330	0.231000	0.23751	0.094000	0.20943	0.186000	0.23388	0.525000	0.22956	0.051000	0.15978	0.655000	0.94253	GCG	-	PTPRN2	-	NULL		0.577	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	0	0		35	35		0.00		C			157475569	-1	9		43		tier1	no_errors	ENST00000404321	ensembl	human	known	74_37	missense	17.31		SNP	0.027	T	9	43
CHST3	9469	genome.wustl.edu	37	10	73766992	73766992	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:73766992C>T	ENST00000373115.4	+	3	640	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	68					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)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						ACCGACCCAGCCCTGATCTTA	0.562													ENSG00000122863																																					0													95.0	89.0	91.0					10																	73766992		2203	4300	6503	SO:0001583	missense	0			-	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.203C>T	10.37:g.73766992C>T	ENSP00000362207:p.Ala68Val		O75099|Q52M30	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.A68V	ENST00000373115.4	37	c.203	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760304	0.15914	.	.	ENSG00000122863	ENST00000373115	D	0.96459	-4.02	5.62	3.73	0.42828	.	0.355441	0.30277	N	0.009988	D	0.90817	0.7116	L	0.34521	1.04	0.19575	N	0.999969	B	0.06786	0.001	B	0.06405	0.002	T	0.80616	-0.1303	10	0.37606	T	0.19	-25.6192	3.4689	0.07559	0.2893:0.4694:0.1594:0.0819	.	68	Q7LGC8	CHST3_HUMAN	V	68	ENSP00000362207:A68V	ENSP00000362207:A68V	A	+	2	0	CHST3	73436998	0.961000	0.32948	0.897000	0.35233	0.062000	0.15995	1.089000	0.30890	1.343000	0.45638	0.655000	0.94253	GCC	-	CHST3	-	pirsf_Carbohydrate_sulfotransferase		0.562	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	0	0		46	46		0.00		C	NM_004273		73766992	+1	9		38		tier1	no_errors	ENST00000373115	ensembl	human	known	74_37	missense	19.15		SNP	0.412	T	9	38
SPAG9	9043	genome.wustl.edu	37	17	49075915	49075915	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:49075915C>T	ENST00000262013.7	-	15	1936	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	SPAG9_ENST00000357122.4_Silent_p.L562L|SPAG9_ENST00000505279.1_Silent_p.L566L|SPAG9_ENST00000510283.1_Silent_p.L419L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	576					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CATTGTACTTCAGATTAACAG	0.453													ENSG00000008294																																					0													183.0	153.0	163.0					17																	49075915		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1728G>A	17.37:g.49075915C>T			A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.L576	ENST00000262013.7	37	c.1728	CCDS45740.1	17																																																																																			-	SPAG9	-	NULL		0.453	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	0	0		99	99		0.00		C	NM_003971		49075915	-1	48		105		tier1	no_errors	ENST00000262013	ensembl	human	known	74_37	silent	31.37		SNP	0.992	T	48	105
RP1L1	94137	genome.wustl.edu	37	8	10465863	10465863	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:10465863G>A	ENST00000382483.3	-	4	5968	c.5745C>T	c.(5743-5745)gcC>gcT	p.A1915A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1995					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTCTGGCTGGGCCTCCTTTT	0.612													ENSG00000183638																																					0													129.0	144.0	139.0					8																	10465863		2018	4169	6187	SO:0001819	synonymous_variant	0			-	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5745C>T	8.37:g.10465863G>A			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A1915	ENST00000382483.3	37	c.5745	CCDS43708.1	8																																																																																			-	RP1L1	-	NULL		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	0	0		47	47		0.00		G			10465863	-1	17		41		tier1	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	29.31		SNP	0.001	A	17	41
EYA1	2138	genome.wustl.edu	37	8	72127655	72127655	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:72127655G>A	ENST00000340726.3	-	16	2203	c.1564C>T	c.(1564-1566)Cca>Tca	p.P522S	EYA1_ENST00000388741.2_Missense_Mutation_p.P488S|EYA1_ENST00000388742.4_Missense_Mutation_p.P522S|EYA1_ENST00000388740.3_Missense_Mutation_p.P489S|EYA1_ENST00000303824.7_Missense_Mutation_p.P516S|EYA1_ENST00000419131.1_Missense_Mutation_p.P487S|EYA1_ENST00000388743.2_Missense_Mutation_p.P521S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	522					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)			TTTTCTATTGGAAATACAATT	0.353													ENSG00000104313																																					0													74.0	78.0	77.0					8																	72127655		2203	4300	6503	SO:0001583	missense	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.1564C>T	8.37:g.72127655G>A	ENSP00000342626:p.Pro522Ser		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.P522S	ENST00000340726.3	37	c.1564	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.304601	0.95601	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31;-4.31;-2.59	5.52	5.52	0.82312	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.106416	0.64402	D	0.000004	D	0.97829	0.9287	M	0.66506	2.035	0.80722	D	1	D;P;P;D;D	0.54964	0.966;0.944;0.944;0.966;0.969	P;P;P;P;P	0.58780	0.5;0.669;0.536;0.5;0.845	D	0.98045	1.0384	10	0.54805	T	0.06	-13.3259	19.4345	0.94786	0.0:0.0:1.0:0.0	.	516;449;489;522;487	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	S	522;522;490;489;516;488;521;487	ENSP00000373394:P522S;ENSP00000342626:P522S;ENSP00000373392:P489S;ENSP00000303221:P516S;ENSP00000373393:P488S;ENSP00000373395:P521S;ENSP00000410176:P487S	ENSP00000303221:P516S	P	-	1	0	EYA1	72290209	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.760000	0.98935	2.587000	0.87381	0.563000	0.77884	CCA	-	EYA1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA		0.353	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	0	0		65	65		0.00		G	NM_000503, NM_172060		72127655	-1	35		56		tier1	no_errors	ENST00000340726	ensembl	human	known	74_37	missense	38.46		SNP	1.000	A	35	56
CDC40	51362	genome.wustl.edu	37	6	110514444	110514444	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:110514444T>C	ENST00000368932.1	+	3	350	c.249T>C	c.(247-249)ccT>ccC	p.P83P	CDC40_ENST00000368930.1_Silent_p.P83P|CDC40_ENST00000307731.1_Silent_p.P83P			O60508	PRP17_HUMAN	cell division cycle 40	83					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGTATAATCCTACCTATGAGA	0.348													ENSG00000168438																																					0													109.0	105.0	106.0					6																	110514444		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.249T>C	6.37:g.110514444T>C			B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P83	ENST00000368932.1	37	c.249	CCDS5081.1	6																																																																																			-	CDC40	-	NULL		0.348	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	0	0		107	107		0.00		T	NM_015891		110514444	+1	29		88		tier1	no_errors	ENST00000307731	ensembl	human	known	74_37	silent	24.79		SNP	0.911	C	29	88
KPNA1	3836	genome.wustl.edu	37	3	122145611	122145611	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:122145611G>A	ENST00000344337.6	-	0	2014				RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AAAGAGAGTGGGCCGTTCTGG	0.453													ENSG00000114030																									Melanoma(12;340 801 11196 19797)												0																																										SO:0001624	3_prime_UTR_variant	0			-	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.*221C>T	3.37:g.122145611G>A			D3DN93|Q6IBQ9|Q9BQ56	R	SNP	-	NULL	ENST00000344337.6	37	NULL	CCDS3013.1	3																																																																																			-	KP1	-	-		0.453	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KP1	HGNC	protein_coding	OTTHUMT00000355740.1	0	0		70	70		0.00		G	NM_002264		122145611	-1	26		54		tier1	no_errors	ENST00000466923	ensembl	human	known	74_37	rna	32.50		SNP	1.000	A	26	54
PPP1R3A	5506	genome.wustl.edu	37	7	113518323	113518323	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:113518323C>T	ENST00000284601.3	-	4	2892	c.2824G>A	c.(2824-2826)Gct>Act	p.A942T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	942					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGTTGGCTAGCCATGGTAGTA	0.388													ENSG00000154415																																					0													101.0	101.0	101.0					7																	113518323		2203	4299	6502	SO:0001583	missense	0			-	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2824G>A	7.37:g.113518323C>T	ENSP00000284601:p.Ala942Thr		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.A942T	ENST00000284601.3	37	c.2824	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	0	-2.675008	0.00104	.	.	ENSG00000154415	ENST00000284601	T	0.15139	2.45	5.71	-6.56	0.01848	.	1.031730	0.07649	N	0.931581	T	0.04137	0.0115	N	0.02111	-0.68	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45116	-0.9283	10	0.02654	T	1	0.0118	8.3573	0.32338	0.0:0.4069:0.2177:0.3754	.	942	Q16821	PPR3A_HUMAN	T	942	ENSP00000284601:A942T	ENSP00000284601:A942T	A	-	1	0	PPP1R3A	113305559	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.826000	0.01705	-0.725000	0.04901	-0.312000	0.09012	GCT	-	PPP1R3A	-	NULL		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	0	0		27	27		0.00		C	NM_002711		113518323	-1	7		25		tier1	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	21.88		SNP	0.000	T	7	25
KRT8P47	644743	genome.wustl.edu	37	1	44569642	44569642	+	lincRNA	SNP	C	C	T	rs528301409		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:44569642C>T	ENST00000434244.1	+	0	1639																											GGTTGGCGATCTCGTACTGCG	0.602													ENSG00000230615	C|||	1	0.000199681	0.0	0.0	5008	,	,		21432	0.0		0.0	False		,,,				2504	0.001																0																																												0			-																													1.37:g.44569642C>T				R	SNP	-	NULL	ENST00000434244.1	37	NULL		1																																																																																			-	RP5-1198O20.4	-	-		0.602	RP5-1198O20.4-001	KNOWN	basic	lincRNA	ENSG00000230615	Clone_based_vega_gene	lincRNA	OTTHUMT00000022875.2	0	0		44	44		0.00		C			44569642	+1	20		21		tier1	no_errors	ENST00000434244	ensembl	human	known	74_37	rna	48.78		SNP	1.000	T	20	21
LMTK3	114783	genome.wustl.edu	37	19	49013396	49013396	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49013396C>T	ENST00000600059.1	-	3	472	c.245G>A	c.(244-246)gGg>gAg	p.G82E	LMTK3_ENST00000270238.3_Missense_Mutation_p.G111E			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	82					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGTGTACTCCCCGGAGCAGTC	0.622													ENSG00000142235																																					0													34.0	38.0	37.0					19																	49013396		1970	4158	6128	SO:0001583	missense	0			-	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.245G>A	19.37:g.49013396C>T	ENSP00000472020:p.Gly82Glu		Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G111E	ENST00000600059.1	37	c.332		19	.	.	.	.	.	.	.	.	.	.	c	26.7	4.766341	0.90020	.	.	ENSG00000142235	ENST00000270238	T	0.76709	-1.04	4.94	4.94	0.65067	.	0.000000	0.64402	U	0.000002	D	0.82495	0.5049	L	0.34521	1.04	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.84036	0.0362	10	0.59425	D	0.04	.	16.0926	0.81101	0.0:1.0:0.0:0.0	.	82	Q96Q04	LMTK3_HUMAN	E	111	ENSP00000270238:G111E	ENSP00000270238:G111E	G	-	2	0	LMTK3	53705208	0.134000	0.22483	1.000000	0.80357	0.984000	0.73092	1.648000	0.37271	2.461000	0.83175	0.436000	0.28706	GGG	-	LMTK3	-	NULL		0.622	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	0	0		74	74		0.00		C	NM_052895		49013396	-1	20		68		tier1	no_errors	ENST00000270238	ensembl	human	known	74_37	missense	22.47		SNP	1.000	T	20	68
STON1	11037	genome.wustl.edu	37	2	48808301	48808301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:48808301C>T	ENST00000406226.1	+	3	724	c.529C>T	c.(529-531)Cga>Tga	p.R177*	STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.R177*|STON1_ENST00000404752.1_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.R177*|STON1_ENST00000309835.3_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.R177*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	177					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGTATTTTCGAGAGGACTG	0.438													ENSG00000068781																																					0													93.0	93.0	93.0					2																	48808301		2203	4300	6503	SO:0001587	stop_gained	0			-	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.529C>T	2.37:g.48808301C>T	ENSP00000384615:p.Arg177*		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.R177*	ENST00000406226.1	37	c.529	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.947777	0.97134	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.24	5.24	0.73138	.	0.919580	0.09326	N	0.817605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	ENSP00000310969:R177X	R	+	1	2	STON1-GTF2A1L;STON1	48661805	0.158000	0.22850	0.782000	0.31804	0.594000	0.36715	2.054000	0.41335	2.884000	0.98904	0.655000	0.94253	CGA	-	STON1-GTF2A1L	-	NULL		0.438	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	0	0		21	21		0.00		C	NM_006873		48808301	+1	13		13		tier1	no_errors	ENST00000309827	ensembl	human	known	74_37	nonsense	50.00		SNP	0.969	T	13	13
ARCN1	372	genome.wustl.edu	37	11	118444334	118444334	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118444334G>A	ENST00000264028.4	+	1	98				ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Intron|ARCN1_ENST00000359415.4_Splice_Site	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTTGTCAATAGATAACTTGAT	0.323													ENSG00000095139																																					0																																										SO:0001627	intron_variant	0			-	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.3+1069G>A	11.37:g.118444334G>A			B4E1X2|E9PEU4|Q52M80	Splice_Site	SNP	-	e1-1	ENST00000264028.4	37	c.1-1	CCDS8400.1	11																																																																																			-	ARCN1	-	-		0.323	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	0	0		68	68		0.00		G			118444334	+1	22		62		tier1	no_errors	ENST00000359415	ensembl	human	putative	74_37	splice_site	26.19		SNP	0.004	A	22	62
CD8BP	927	genome.wustl.edu	37	2	107107406	107107406	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:107107406C>T	ENST00000416057.1	+	0	118							A6NJW9	CD8BL_HUMAN	CD8b molecule pseudogene						immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGATGCTGTCCTGCGAGGCTA	0.532													ENSG00000254126																																					0																																												0			-			2q12.2	2012-10-03	2006-03-28	2006-03-09	ENSG00000254126	ENSG00000254126			1708	pseudogene	pseudogene			"""CD8 antigen, beta polypeptide 2, pseudogene (p37)"""	CD8B2		1541829	Standard	NG_002423		Approved			A6NJW9	OTTHUMG00000153183		2.37:g.107107406C>T				R	SNP	-	NULL	ENST00000416057.1	37	NULL		2																																																																																			-	CD8BP	-	-		0.532	CD8BP-002	KNOWN	basic	processed_transcript	CD8BP	HGNC	pseudogene	OTTHUMT00000331218.1	0	0		71	71		0.00		C	XM_166000		107107406	+1	31		45		tier1	no_errors	ENST00000416057	ensembl	human	known	74_37	rna	40.79		SNP	0.274	T	31	45
LRRC4C	57689	genome.wustl.edu	37	11	40136827	40136827	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:40136827C>T	ENST00000278198.2	-	2	2979	c.1016G>A	c.(1015-1017)aGg>aAg	p.R339K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R339K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R339K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R339K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	339	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAATGTACCTCCCCTTTAG	0.527													ENSG00000148948																																					0													80.0	68.0	72.0					11																	40136827		2203	4300	6503	SO:0001583	missense	0			-	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1016G>A	11.37:g.40136827C>T	ENSP00000278198:p.Arg339Lys		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R339K	ENST00000278198.2	37	c.1016	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	C	8.798	0.932190	0.18131	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.055394	0.64402	D	0.000001	T	0.41743	0.1172	L	0.33710	1.025	0.41583	D	0.988753	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	10	0.20519	T	0.43	.	14.5562	0.68101	0.0:0.8541:0.1459:0.0	.	339	Q9HCJ2	LRC4C_HUMAN	K	339	ENSP00000278198:R339K;ENSP00000436976:R339K;ENSP00000437132:R339K;ENSP00000434761:R339K	ENSP00000278198:R339K	R	-	2	0	LRRC4C	40093403	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.691000	0.61738	2.732000	0.93576	0.655000	0.94253	AGG	-	LRRC4C	-	NULL		0.527	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	0	0		27	27		0.00		C	NM_020929		40136827	-1	9		25		tier1	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	26.47		SNP	1.000	T	9	25
RPRD1A	55197	genome.wustl.edu	37	18	33607240	33607240	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:33607240C>T	ENST00000399022.4	-	5	691	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	RPRD1A_ENST00000588737.1_Missense_Mutation_p.E138K|RPRD1A_ENST00000590898.1_Missense_Mutation_p.E138K|RPRD1A_ENST00000319040.6_Missense_Mutation_p.E174K|RPRD1A_ENST00000357384.4_Missense_Mutation_p.E174K|RPRD1A_ENST00000337059.5_Missense_Mutation_p.E138K	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	174					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GCTGCATTTTCCAGATCTTGT	0.353													ENSG00000141425																																					0													115.0	118.0	117.0					18																	33607240		2203	4300	6503	SO:0001583	missense	0			-	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.520G>A	18.37:g.33607240C>T	ENSP00000381984:p.Glu174Lys		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	pfam_R_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.E174K	ENST00000399022.4	37	c.520	CCDS11917.1	18	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615170	0.87359	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.80616	2.505	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.974;1.0	D;P;D	0.85130	0.997;0.841;0.997	T	0.80178	-0.1490	9	0.42905	T	0.14	-16.2629	16.1081	0.81237	0.0:1.0:0.0:0.0	.	174;174;138	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	K	174;174;138;174	.	ENSP00000314602:E174K	E	-	1	0	RPRD1A	31861238	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.726000	0.68515	2.467000	0.83353	0.650000	0.86243	GAA	-	RPRD1A	-	NULL		0.353	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1A	HGNC	protein_coding	OTTHUMT00000255802.1	0	0		31	31		0.00		C	NM_018170		33607240	-1	17		8		tier1	no_errors	ENST00000357384	ensembl	human	known	74_37	missense	68.00		SNP	1.000	T	17	8
GRSF1	2926	genome.wustl.edu	37	4	71686522	71686522	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71686522G>A	ENST00000254799.6	-	0	1642				GRSF1_ENST00000545193.1_3'UTR|GRSF1_ENST00000502323.1_3'UTR|GRSF1_ENST00000439371.1_3'UTR|GRSF1_ENST00000508091.1_5'UTR	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1						anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TAATAAACTGGAACTGTATAT	0.323													ENSG00000132463																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.*82C>T	4.37:g.71686522G>A			B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	R	SNP	-	NULL	ENST00000254799.6	37	NULL	CCDS47069.1	4																																																																																			-	GRSF1	-	-		0.323	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GRSF1	HGNC	protein_coding	OTTHUMT00000362642.1	0	0		57	57		0.00		G	NM_002092		71686522	-1	24		30		tier1	no_errors	ENST00000508091	ensembl	human	known	74_37	rna	44.44		SNP	0.620	A	24	30
DNAJB8	165721	genome.wustl.edu	37	3	128181649	128181649	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:128181649G>A	ENST00000469083.1	-	2	2997	c.440C>T	c.(439-441)gCc>gTc	p.A147V	DNAJB8_ENST00000319153.3_Missense_Mutation_p.A147V|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	147					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGATGAGAAGGCCTCCATGAA	0.622													ENSG00000179407																																					0													41.0	48.0	45.0					3																	128181649		2203	4300	6503	SO:0001583	missense	0			-		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.440C>T	3.37:g.128181649G>A	ENSP00000417418:p.Ala147Val		B3KWV7	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A147V	ENST00000469083.1	37	c.440	CCDS3048.1	3	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243788	0.39697	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.44482	0.92;0.92	4.75	4.75	0.60458	.	1.289410	0.05580	N	0.572702	T	0.65811	0.2727	M	0.71581	2.175	0.37866	D	0.929909	D	0.63880	0.993	D	0.70227	0.968	T	0.50939	-0.8768	10	0.37606	T	0.19	.	13.2508	0.60050	0.0:0.0:1.0:0.0	.	147	Q8NHS0	DNJB8_HUMAN	V	147	ENSP00000417418:A147V;ENSP00000316053:A147V	ENSP00000316053:A147V	A	-	2	0	DNAJB8	129664339	1.000000	0.71417	0.997000	0.53966	0.381000	0.30169	3.476000	0.53143	2.182000	0.69389	0.561000	0.74099	GCC	-	DJB8	-	NULL		0.622	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DJB8	HGNC	protein_coding	OTTHUMT00000356933.1	0	0		51	51		0.00		G	NM_153330		128181649	-1	18		83		tier1	no_errors	ENST00000319153	ensembl	human	known	74_37	missense	17.82		SNP	1.000	A	18	83
OR5M11	219487	genome.wustl.edu	37	11	56310062	56310062	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56310062G>A	ENST00000528616.2	-	1	695	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGATCCGGAGGATGGCAGCAA	0.498													ENSG00000255223																																					0													83.0	84.0	84.0					11																	56310062		2050	4217	6267	SO:0001819	synonymous_variant	0			-	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.672C>T	11.37:g.56310062G>A			B2RNL5|B2RNL7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I224	ENST00000528616.2	37	c.672	CCDS53629.1	11																																																																																			-	OR5M11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	0	0		39	39		0.00		G	NM_001005245		56310062	-1	9		37		tier1	no_errors	ENST00000528616	ensembl	human	known	74_37	silent	19.57		SNP	0.071	A	9	37
AHSA1	10598	genome.wustl.edu	37	14	77929031	77929031	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:77929031C>T	ENST00000216479.3	+	4	561	c.401C>T	c.(400-402)gCc>gTc	p.A134V	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.A134V	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	134					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AATCTCGTGGCCTTAATGAAG	0.438													ENSG00000100591																																					0													127.0	117.0	121.0					14																	77929031		2203	4300	6503	SO:0001583	missense	0			-	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.401C>T	14.37:g.77929031C>T	ENSP00000216479:p.Ala134Val		B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N	p.A134V	ENST00000216479.3	37	c.401	CCDS9863.1	14	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499794	0.44455	.	.	ENSG00000100591	ENST00000216479;ENST00000535854	.	.	.	5.61	4.72	0.59763	Activator of Hsp90 ATPase, N-terminal (2);	0.363955	0.32503	N	0.006020	T	0.52757	0.1754	L	0.40543	1.245	0.80722	D	1	B;P	0.34864	0.131;0.473	B;B	0.38106	0.063;0.265	T	0.53549	-0.8423	9	0.45353	T	0.12	-13.0223	15.1052	0.72315	0.0:0.7324:0.2676:0.0	.	134;134	B4DUR9;O95433	.;AHSA1_HUMAN	V	134	.	ENSP00000216479:A134V	A	+	2	0	AHSA1	76998784	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.702000	0.25631	1.350000	0.45770	0.557000	0.71058	GCC	-	AHSA1	-	pfam_AHSA1_N,superfamily_AHSA1_N		0.438	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA1	HGNC	protein_coding	OTTHUMT00000414017.1	0	0		91	91		0.00		C	NM_012111		77929031	+1	46		36		tier1	no_errors	ENST00000216479	ensembl	human	known	74_37	missense	56.10		SNP	1.000	T	46	36
SEC62	7095	genome.wustl.edu	37	3	169687135	169687135	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:169687135C>T	ENST00000337002.4	+	1	94				SEC62_ENST00000480708.1_Intron|RP11-379K17.4_ENST00000469301.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)						cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TGTCACATTTCCTTCTTGGAC	0.353													ENSG00000008952																																					0																																										SO:0001627	intron_variant	0			-	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.36+2489C>T	3.37:g.169687135C>T			D3DNQ0|O00682|O00729	Missense_Mutation	SNP	NULL	p.P33S	ENST00000337002.4	37	c.97	CCDS3210.1	3																																																																																			-	SEC62	-	NULL		0.353	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC62	HGNC	protein_coding	OTTHUMT00000352043.1	0	0		49	49		0.00		C			169687135	+1	20		41		tier1	no_errors	ENST00000487736	ensembl	human	known	74_37	missense	32.79		SNP	0.164	T	20	41
APOL5	80831	genome.wustl.edu	37	22	36123190	36123190	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:36123190T>C	ENST00000249044.2	+	3	1075	c.1075T>C	c.(1075-1077)Tcc>Ccc	p.S359P		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	359					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CCAGACCTGTTCCAGCTCCCG	0.592													ENSG00000128313																																					0													33.0	38.0	36.0					22																	36123190		2200	4287	6487	SO:0001583	missense	0			-	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1075T>C	22.37:g.36123190T>C	ENSP00000249044:p.Ser359Pro		Q5TFL9|Q9UGW5	Missense_Mutation	SNP	pfam_ApoL	p.S359P	ENST00000249044.2	37	c.1075	CCDS13920.1	22	.	.	.	.	.	.	.	.	.	.	T	8.667	0.901973	0.17760	.	.	ENSG00000128313	ENST00000249044	T	0.04706	3.57	1.98	-0.902	0.10537	.	59.848300	0.00783	N	0.001287	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	10	0.66056	D	0.02	.	2.6785	0.05087	0.2728:0.5308:0.0:0.1965	.	359	Q9BWW9	APOL5_HUMAN	P	359	ENSP00000249044:S359P	ENSP00000249044:S359P	S	+	1	0	APOL5	34453136	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	-0.193000	0.09573	-0.319000	0.08652	-0.385000	0.06624	TCC	-	APOL5	-	NULL		0.592	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	HGNC	protein_coding	OTTHUMT00000318979.1	0	0		44	44		0.00		T	NM_030642		36123190	+1	16		36		tier1	no_errors	ENST00000249044	ensembl	human	known	74_37	missense	30.77		SNP	0.001	C	16	36
PTPRVP	148713	genome.wustl.edu	37	1	202156135	202156136	+	RNA	INS	-	-	CCTCGCT	rs369231344|rs139095833|rs78957599|rs368169635	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:202156135_202156136insCCTCGCT	ENST00000482597.1	+	0	3411_3412					NR_002930.2				protein tyrosine phosphatase, receptor type, V, pseudogene																		CTGCAGGCCCCcctcgctcctc	0.639													ENSG00000243323		3092	0.617412	0.3094	0.6816	5008	,	,		20478	0.6835		0.7137	False		,,,				2504	0.8211																0																																												0				AJ629456		1q32.1	2013-09-26	2010-03-16	2010-03-16	ENSG00000243323	ENSG00000243323		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	13421	pseudogene	pseudogene				PTPRV		15358244	Standard	NR_002930		Approved	OST-PTP, ESP	uc009xaa.2		OTTHUMG00000040524		1.37:g.202156136_202156142dupCCTCGCT				R	INS	-	NULL	ENST00000482597.1	37	NULL		1																																																																																				PTPRVP	-	-		0.639	PTPRVP-003	KNOWN	basic	processed_transcript	PTPRVP	HGNC	pseudogene	OTTHUMT00000334021.1									-	XM_086287		202156136	+1					tier1	no_errors	ENST00000482597	ensembl	human	known	74_37	rna			INS	0.022:0.016	CCTCGCT		
CCDC168	643677	genome.wustl.edu	37	13	103384309	103384309	+	Silent	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:103384309A>T	ENST00000322527.2	-	1	4850	c.4851T>A	c.(4849-4851)atT>atA	p.I1617I		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1617																	GCTCTGGAACAATCCGTTCTT	0.363													ENSG00000175820																																					0													110.0	87.0	94.0					13																	103384309		692	1590	2282	SO:0001819	synonymous_variant	0			-		CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.4851T>A	13.37:g.103384309A>T			Q8N800	Silent	SNP	NULL	p.I1617	ENST00000322527.2	37	c.4851		13																																																																																			-	CCDC168	-	NULL		0.363	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		0	0		46	46		0.00		A	NM_001146197		103384309	-1	7		21		tier1	no_errors	ENST00000322527	ensembl	human	known	74_37	silent	25.00		SNP	0.004	T	7	21
SCN11A	11280	genome.wustl.edu	37	3	38936064	38936064	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38936064T>C	ENST00000302328.3	-	15	2993	c.2795A>G	c.(2794-2796)gAt>gGt	p.D932G	SCN11A_ENST00000456224.3_Missense_Mutation_p.D932G|SCN11A_ENST00000444237.2_Missense_Mutation_p.D932G|SCN11A_ENST00000450244.1_Missense_Mutation_p.D932G	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	932					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)	CTGTGCATTATCTTCACCAGA	0.473													ENSG00000168356																																					0													221.0	221.0	221.0					3																	38936064		2203	4300	6503	SO:0001583	missense	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.2795A>G	3.37:g.38936064T>C	ENSP00000307599:p.Asp932Gly		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.D932G	ENST00000302328.3	37	c.2795	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	T	11.66	1.704786	0.30232	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.74	1.79	0.24919	Sodium ion transport-associated (1);	1.257310	0.05860	U	0.622750	T	0.81103	0.4753	L	0.60455	1.87	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.62315	-0.6880	10	0.35671	T	0.21	.	4.3914	0.11343	0.3054:0.0837:0.0:0.611	.	932	Q9UI33	SCNBA_HUMAN	G	932	ENSP00000307599:D932G;ENSP00000400945:D932G;ENSP00000416757:D932G;ENSP00000408028:D932G	ENSP00000307599:D932G	D	-	2	0	SCN11A	38911068	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.200000	0.17257	0.421000	0.25980	0.528000	0.53228	GAT	-	SCN11A	-	pfam_Na_trans_assoc		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	0	0		43	43		0.00		T	NM_014139		38936064	-1	25		54		tier1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	31.65		SNP	0.001	C	25	54
RAPGEF3	10411	genome.wustl.edu	37	12	48131351	48131351	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:48131351C>T	ENST00000449771.2	-	28	2859	c.2771G>A	c.(2770-2772)tGa>tAa	p.*924*	RAPGEF3_ENST00000405493.2_Silent_p.*882*|RAPGEF3_ENST00000548919.1_Silent_p.*815*|RAPGEF3_ENST00000171000.4_Silent_p.*882*|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Silent_p.*924*|RAPGEF3_ENST00000549151.1_Silent_p.*882*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	0					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.*882*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGCCCCTCCTCATGGCTCCAG	0.647													ENSG00000079337																																					1	Substitution - coding silent(1)	lung(1)											26.0	26.0	26.0					12																	48131351		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2771G>A	12.37:g.48131351C>T			A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.*924	ENST00000449771.2	37	c.2771	CCDS41775.1	12																																																																																			-	RAPGEF3	-	NULL		0.647	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	0	0		106	106		0.00		C	NM_006105		48131351	-1	18		91		tier1	no_errors	ENST00000389212	ensembl	human	known	74_37	silent	16.36		SNP	0.951	T	18	91
HHLA2	11148	genome.wustl.edu	37	3	108074095	108074095	+	Missense_Mutation	SNP	G	G	A	rs374073757		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:108074095G>A	ENST00000357759.5	+	5	966	c.552G>A	c.(550-552)atG>atA	p.M184I	HHLA2_ENST00000489514.2_Missense_Mutation_p.M184I|HHLA2_ENST00000467761.1_Missense_Mutation_p.M184I|HHLA2_ENST00000491820.1_Missense_Mutation_p.M184I|HHLA2_ENST00000467562.1_Missense_Mutation_p.M120I	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	184	Ig-like C1-type.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AAAACAACATGGAAGAAACAG	0.363													ENSG00000114455																																					0								G	ILE/MET	0,3724		0,0,1862	106.0	99.0	101.0		552	-1.7	0.0	3		101	1,8179		0,1,4089	no	missense	HHLA2	NM_007072.2	10	0,1,5951	AA,AG,GG		0.0122,0.0,0.0084	benign	184/415	108074095	1,11903	1862	4090	5952	SO:0001583	missense	0			-	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.552G>A	3.37:g.108074095G>A	ENSP00000350402:p.Met184Ile		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.M184I	ENST00000357759.5	37	c.552	CCDS46883.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.559|7.559	0.664243|0.664243	0.14710|0.14710	0.0|0.0	1.22E-4|1.22E-4	ENSG00000114455|ENSG00000114455	ENST00000482099|ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	.|T;T;T;T;T	.|0.02787	.|4.16;4.16;4.16;4.16;4.16	5.71|5.71	-1.73|-1.73	0.08081|0.08081	.|Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	.|0.990053	.|0.08214	.|N	.|0.980278	T|T	0.01489|0.01489	0.0048|0.0048	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.003;0.006;0.006	.|B;B;B	.|0.06405	.|0.002;0.002;0.002	T|T	0.49466|0.49466	-0.8937|-0.8937	5|9	.|.	.|.	.|.	-4.1049|-4.1049	5.5119|5.5119	0.16886|0.16886	0.4955:0.0:0.3709:0.1336|0.4955:0.0:0.3709:0.1336	.|.	.|120;184;184	.|B4DKN2;C9J7D0;Q9UM44	.|.;.;HHLA2_HUMAN	R|I	87|184;120;184;184;184	.|ENSP00000418284:M184I;ENSP00000418345:M120I;ENSP00000350402:M184I;ENSP00000419207:M184I;ENSP00000417856:M184I	.|.	G|M	+|+	1|3	0|0	HHLA2|HHLA2	109556785|109556785	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.079000|-0.079000	0.11357|0.11357	-0.053000|-0.053000	0.13289|0.13289	0.655000|0.655000	0.94253|0.94253	GGA|ATG	-	HHLA2	-	pfam_Ig_C1-set,pfscan_Ig-like_dom		0.363	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHLA2	HGNC	protein_coding	OTTHUMT00000353924.1	0	0		108	108		0.00		G	NM_007072		108074095	+1	34		83		tier1	no_errors	ENST00000357759	ensembl	human	known	74_37	missense	29.06		SNP	0.000	A	34	83
OSBPL3	26031	genome.wustl.edu	37	7	24903199	24903199	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:24903199G>A	ENST00000313367.2	-	8	1144	c.693C>T	c.(691-693)gcC>gcT	p.A231A	OSBPL3_ENST00000352860.1_Silent_p.A231A|OSBPL3_ENST00000431825.2_Silent_p.A231A|OSBPL3_ENST00000396429.1_Silent_p.A231A|OSBPL3_ENST00000409069.1_Silent_p.A231A|OSBPL3_ENST00000353930.1_Silent_p.A231A|OSBPL3_ENST00000396431.1_Silent_p.A231A	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	231					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTACCAGGTAGGCATGACAGT	0.562													ENSG00000070882																																					0													139.0	118.0	125.0					7																	24903199		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.693C>T	7.37:g.24903199G>A			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A231	ENST00000313367.2	37	c.693	CCDS5390.1	7																																																																																			-	OSBPL3	-	NULL		0.562	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	0	0		44	44		0.00		G			24903199	-1	21		37		tier1	no_errors	ENST00000313367	ensembl	human	known	74_37	silent	36.21		SNP	0.004	A	21	37
PRRC2C	23215	genome.wustl.edu	37	1	171506500	171506500	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:171506500C>T	ENST00000338920.4	+	15	2623	c.2386C>T	c.(2386-2388)Cac>Tac	p.H796Y	PRRC2C_ENST00000367742.3_Missense_Mutation_p.H798Y|PRRC2C_ENST00000392078.3_Missense_Mutation_p.H798Y|PRRC2C_ENST00000426496.2_Missense_Mutation_p.H796Y	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	796					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGCAAGAGATCACGCAATTTC	0.478													ENSG00000117523																																					0													70.0	59.0	63.0					1																	171506500		2203	4300	6503	SO:0001583	missense	0			-	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2386C>T	1.37:g.171506500C>T	ENSP00000343629:p.His796Tyr		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.H798Y	ENST00000338920.4	37	c.2392	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296695	0.40594	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.3	5.3	0.74995	.	0.000000	0.48286	D	0.000182	T	0.10337	0.0253	L	0.36672	1.1	0.53005	D	0.999964	D	0.63046	0.992	P	0.58660	0.843	T	0.02015	-1.1229	10	0.66056	D	0.02	.	14.7286	0.69362	0.1453:0.8547:0.0:0.0	.	796	Q9Y520-4	.	Y	798;797;796;798;796;553;555	ENSP00000375928:H798Y;ENSP00000410219:H796Y;ENSP00000356716:H798Y;ENSP00000343629:H796Y	ENSP00000343629:H796Y	H	+	1	0	PRRC2C	169773124	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.965000	0.63708	2.503000	0.84419	0.650000	0.86243	CAC	-	PRRC2C	-	NULL		0.478	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	0	0		36	36		0.00		C	NM_015172		171506500	+1	12		44		tier1	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	21.43		SNP	1.000	T	12	44
CEACAM20	125931	genome.wustl.edu	37	19	45016987	45016987	+	RNA	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45016987G>T	ENST00000454753.1	-	0	1731							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CATGACTGGGGTCCTTCTGTT	0.562											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000176395																																					0													103.0	108.0	106.0					19																	45016987		1956	4149	6105			0			-	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016987G>T		928		R	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			-	CEACAM20	-	-		0.562	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	0	0		43	43		0.00		G	NM_198444		45016987	-1	20		29		tier1	no_errors	ENST00000316962	ensembl	human	known	74_37	rna	40.82		SNP	0.000	T	20	29
MROH7	374977	genome.wustl.edu	37	1	55152086	55152086	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55152086G>A	ENST00000421030.2	+	15	2961	c.2676G>A	c.(2674-2676)aaG>aaA	p.K892K	MROH7_ENST00000339553.5_Silent_p.K892K|MROH7_ENST00000454855.2_Silent_p.K410K|MROH7_ENST00000395690.2_Silent_p.K892K|MROH7_ENST00000409996.1_Silent_p.K460K|MROH7_ENST00000545244.1_Silent_p.K460K|MROH7-TTC4_ENST00000414150.2_Silent_p.K892K	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	892						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGGACACCAAGAAGGGTGCAC	0.627													ENSG00000271723																																					0													79.0	87.0	85.0					1																	55152086		2187	4262	6449	SO:0001819	synonymous_variant	0			-	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2676G>A	1.37:g.55152086G>A			A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	superfamily_ARM-type_fold	p.K892	ENST00000421030.2	37	c.2676	CCDS41342.2	1																																																																																			-	MROH7-TTC4	-	superfamily_ARM-type_fold		0.627	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1	0	0		30	30		0.00		G	NM_198547		55152086	+1	15		35		tier1	no_errors	ENST00000414150	ensembl	human	known	74_37	silent	30.00		SNP	0.226	A	15	35
CCDC59	29080	genome.wustl.edu	37	12	82752088	82752088	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:82752088G>A	ENST00000256151.7	-	1	479	c.68C>T	c.(67-69)tCc>tTc	p.S23F	METTL25_ENST00000248306.3_5'Flank|CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CCCGACAGTGGAAACCCCTTC	0.597											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000133773																																					0													60.0	56.0	57.0					12																	82752088		2203	4300	6503	SO:0001583	missense	0			-	AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.68C>T	12.37:g.82752088G>A	ENSP00000256151:p.Ser23Phe	1216	Q9H2V5|Q9NW62	Missense_Mutation	SNP	pfam_rR_processing,prints_rR_processing	p.S23F	ENST00000256151.7	37	c.68	CCDS9023.1	12	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662459	0.67700	.	.	ENSG00000133773	ENST00000552377;ENST00000256151	.	.	.	4.85	4.85	0.62838	.	0.963848	0.08625	N	0.917812	T	0.52386	0.1731	L	0.36672	1.1	0.09310	N	1	D	0.58970	0.984	P	0.57371	0.819	T	0.48703	-0.9012	9	0.48119	T	0.1	-24.3686	14.9042	0.70706	0.0:0.0:1.0:0.0	.	23	Q9P031	TAP26_HUMAN	F	23	.	ENSP00000256151:S23F	S	-	2	0	CCDC59	81276219	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	0.547000	0.23299	2.246000	0.74042	0.585000	0.79938	TCC	-	CCDC59	-	prints_rR_processing		0.597	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC59	HGNC	protein_coding	OTTHUMT00000408186.1	0	0		54	54		0.00		G	NM_014167		82752088	-1	13		58		tier1	no_errors	ENST00000256151	ensembl	human	known	74_37	missense	18.31		SNP	0.015	A	13	58
PCDHGA5	56110	genome.wustl.edu	37	5	140743929	140743929	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140743929G>A	ENST00000518069.1	+	1	32	c.32G>A	c.(31-33)gGa>gAa	p.G11E	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	11					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGCGGAGAGCTGCTG	0.582													ENSG00000253485																																					0													35.0	45.0	42.0					5																	140743929		2092	4240	6332	SO:0001583	missense	0			-	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.32G>A	5.37:g.140743929G>A	ENSP00000429834:p.Gly11Glu		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G11E	ENST00000518069.1	37	c.32	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	10.65	1.409405	0.25378	.	.	ENSG00000253485	ENST00000518069	T	0.44881	0.91	5.42	-0.168	0.13343	.	.	.	.	.	T	0.15998	0.0385	N	0.11064	0.09	0.09310	N	1	B;B	0.27068	0.009;0.167	B;B	0.29598	0.038;0.104	T	0.26985	-1.0087	9	0.02654	T	1	.	1.931	0.03327	0.3859:0.1174:0.3671:0.1295	.	11;11	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	E	11	ENSP00000429834:G11E	ENSP00000429834:G11E	G	+	2	0	PCDHGA5	140724113	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.567000	0.05916	0.021000	0.15133	0.563000	0.77884	GGA	-	PCDHGA5	-	NULL		0.582	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	0	0		53	53		0.00		G	NM_018918		140743929	+1	23		73		tier1	no_errors	ENST00000518069	ensembl	human	known	74_37	missense	23.96		SNP	0.000	A	23	73
CR2	1380	genome.wustl.edu	37	1	207647600	207647600	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:207647600G>A	ENST00000367058.3	+	12	2267	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	CR2_ENST00000367057.3_Missense_Mutation_p.G752E|CR2_ENST00000367059.3_Missense_Mutation_p.G693E|CR2_ENST00000458541.2_Missense_Mutation_p.G666E	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	693	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGTTGACTGGACATGCTTAT	0.353													ENSG00000117322																																					0													131.0	140.0	137.0					1																	207647600		2203	4300	6503	SO:0001583	missense	0			-	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2078G>A	1.37:g.207647600G>A	ENSP00000356025:p.Gly693Glu		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G752E	ENST00000367058.3	37	c.2255	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827434	0.32329	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.66	2.73	0.32206	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.81800	0.4899	M	0.83774	2.66	0.40008	D	0.975257	D;D;D	0.71674	0.991;0.998;0.981	D;D;P	0.70227	0.959;0.968;0.897	T	0.81722	-0.0803	9	0.62326	D	0.03	.	8.4488	0.32858	0.2531:0.0:0.7469:0.0	.	693;693;752	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	E	693;752;693;666	ENSP00000356025:G693E;ENSP00000356024:G752E;ENSP00000356026:G693E;ENSP00000404222:G666E	ENSP00000356024:G752E	G	+	2	0	CR2	205714223	0.714000	0.27936	0.588000	0.28705	0.104000	0.19210	0.763000	0.26517	0.731000	0.32448	0.655000	0.94253	GGA	-	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.353	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	0	0		62	62		0.00		G	NM_001877		207647600	+1	30		74		tier1	no_errors	ENST00000367057	ensembl	human	known	74_37	missense	28.85		SNP	0.552	A	30	74
DCAF13	25879	genome.wustl.edu	37	8	104432637	104432637	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:104432637G>T	ENST00000297579.5	+	2	949	c.672G>T	c.(670-672)ttG>ttT	p.L224F	DCAF13_ENST00000519682.1_Missense_Mutation_p.L68F|DCAF13_ENST00000521716.1_Missense_Mutation_p.L68F|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Missense_Mutation_p.L68F	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	72					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCAATTGCTTGGCAAAGCATC	0.418													ENSG00000164934																																					0													80.0	77.0	78.0					8																	104432637		2203	4300	6503	SO:0001583	missense	0			-	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.672G>T	8.37:g.104432637G>T	ENSP00000297579:p.Leu224Phe		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L224F	ENST00000297579.5	37	c.672	CCDS34934.1	8	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252994	0.59212	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	T;T;T;T	0.64803	-0.12;4.74;-0.12;-0.12	5.26	3.46	0.39613	.	0.265958	0.41396	D	0.000882	T	0.68659	0.3025	M	0.87456	2.885	0.40393	D	0.979565	P	0.49253	0.921	P	0.49829	0.623	T	0.70464	-0.4864	10	0.48119	T	0.1	-15.448	5.1816	0.15163	0.1545:0.0:0.5646:0.2809	.	72	B3KME9	.	F	224;68;68;72;68	ENSP00000297579:L224F;ENSP00000430645:L68F;ENSP00000430883:L68F;ENSP00000430411:L68F	ENSP00000297579:L224F	L	+	3	2	DCAF13	104501813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.534000	0.36051	1.222000	0.43521	0.655000	0.94253	TTG	-	DCAF13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.418	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380797.2	0	0		62	62		0.00		G	NM_015420		104432637	+1	34		55		tier1	no_errors	ENST00000297579	ensembl	human	known	74_37	missense	38.20		SNP	1.000	T	34	55
PCDHA9	9752	genome.wustl.edu	37	5	140229445	140229445	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140229445C>T	ENST00000532602.1	+	1	2398	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.F455F|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	455	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGCGTTCGCGCAGTCCG	0.672													ENSG00000204961																									Melanoma(55;1800 1972 14909)												0													88.0	82.0	84.0					5																	140229445		2196	4269	6465	SO:0001819	synonymous_variant	0			-	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1365C>T	5.37:g.140229445C>T			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F455	ENST00000532602.1	37	c.1365	CCDS54920.1	5																																																																																			-	PCDHA9	-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	0	0		49	49		0.00		C	NM_031857		140229445	+1	29		64		tier1	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	31.18		SNP	0.083	T	29	64
SIPA1L3	23094	genome.wustl.edu	37	19	38682938	38682938	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38682938G>A	ENST00000222345.6	+	17	5093	c.4584G>A	c.(4582-4584)gaG>gaA	p.E1528E		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1528					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGAGCAGGAGAGAGACACGG	0.617													ENSG00000105738																																					0													67.0	58.0	61.0					19																	38682938		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4584G>A	19.37:g.38682938G>A			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.E1528	ENST00000222345.6	37	c.4584	CCDS33007.1	19																																																																																			-	SIPA1L3	-	pfam_DUF3401		0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	0	0		35	35		0.00		G	XM_032278		38682938	+1	13		35		tier1	no_errors	ENST00000222345	ensembl	human	known	74_37	silent	27.08		SNP	0.972	A	13	35
SLC23A3	151295	genome.wustl.edu	37	2	220033797	220033797	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220033797C>T	ENST00000409878.3	-	4	478	c.446G>A	c.(445-447)gGa>gAa	p.G149E	SLC23A3_ENST00000396775.3_Missense_Mutation_p.G91E|SLC23A3_ENST00000455516.2_Missense_Mutation_p.G157E|SLC23A3_ENST00000295738.7_Missense_Mutation_p.G149E	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	149					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTAGGTCCCCTACAAAG	0.577													ENSG00000213901																																					0													83.0	84.0	84.0					2																	220033797		1991	4167	6158	SO:0001583	missense	0			-	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.446G>A	2.37:g.220033797C>T	ENSP00000386473:p.Gly149Glu		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.G157E	ENST00000409878.3	37	c.470	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	C	2.552	-0.303898	0.05495	.	.	ENSG00000213901	ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.42900	0.97;2.34;2.35;0.96;2.28	5.0	2.94	0.34122	.	0.497725	0.19818	N	0.105371	T	0.50905	0.1643	L	0.55103	1.725	0.09310	N	1	P;P;D;P	0.69078	0.623;0.623;0.997;0.623	B;B;P;B	0.62184	0.179;0.179;0.899;0.179	T	0.34279	-0.9835	9	.	.	.	.	7.4266	0.27102	0.4307:0.4189:0.1504:0.0	.	149;157;149;149	Q6PIS1;B7Z512;Q6PIS1-2;B7Z508	S23A3_HUMAN;.;.;.	E	91;149;149;157;149;104	ENSP00000295738:G149E;ENSP00000386473:G149E;ENSP00000406546:G157E;ENSP00000386989:G149E;ENSP00000388907:G104E	.	G	-	2	0	SLC23A3	219742041	0.000000	0.05858	0.009000	0.14445	0.434000	0.31775	0.138000	0.16016	0.483000	0.27608	0.655000	0.94253	GGA	-	SLC23A3	-	pfam_Xant/urac/vitC		0.577	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	0	0		24	24		0.00		C	NM_144712		220033797	-1	8		23		tier1	no_errors	ENST00000455516	ensembl	human	known	74_37	missense	25.81		SNP	0.001	T	8	23
RBAK	57786	genome.wustl.edu	37	7	5104176	5104176	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:5104176C>T	ENST00000353796.3	+	6	1413	c.1089C>T	c.(1087-1089)caC>caT	p.H363H	RBAK_ENST00000396912.1_Silent_p.H363H|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	363					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCACCCTGCACCAGAGGAATC	0.488													ENSG00000146587																																					0													158.0	160.0	159.0					7																	5104176		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1089C>T	7.37:g.5104176C>T			A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	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.H363	ENST00000353796.3	37	c.1089	CCDS5337.1	7																																																																																			-	RBAK	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	0	0		51	51		0.00		C	NM_021163		5104176	+1	28		52		tier1	no_errors	ENST00000353796	ensembl	human	known	74_37	silent	35.00		SNP	1.000	T	28	52
SLFN13	146857	genome.wustl.edu	37	17	33772138	33772138	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33772138G>A	ENST00000285013.6	-	3	837	c.562C>T	c.(562-564)Cct>Tct	p.P188S	SLFN13_ENST00000526861.1_Missense_Mutation_p.P188S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P188S|SLFN13_ENST00000542635.1_Missense_Mutation_p.P188S|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	188						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCATATGCAGGATTTGACTCA	0.353													ENSG00000154760																																					0													114.0	122.0	120.0					17																	33772138		2203	4300	6503	SO:0001583	missense	0			-	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.562C>T	17.37:g.33772138G>A	ENSP00000285013:p.Pro188Ser		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.P188S	ENST00000285013.6	37	c.562	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.664998	0.00765	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.01821	4.62;4.62;4.62	3.39	-2.62	0.06152	.	0.631717	0.13183	N	0.407305	T	0.01222	0.0040	L	0.28458	0.855	0.09310	N	1	B	0.19445	0.036	B	0.19391	0.025	T	0.48317	-0.9046	10	0.14656	T	0.56	.	4.0903	0.09967	0.5029:0.1921:0.305:0.0	.	188	Q68D06	SLN13_HUMAN	S	188	ENSP00000285013:P188S;ENSP00000434439:P188S;ENSP00000444016:P188S	ENSP00000285013:P188S	P	-	1	0	SLFN13	30796251	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.638000	0.05452	-0.360000	0.08138	0.514000	0.50259	CCT	-	SLFN13	-	NULL		0.353	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	0	0		34	34		0.00		G	NM_144682		33772138	-1	15		35		tier1	no_errors	ENST00000285013	ensembl	human	known	74_37	missense	30.00		SNP	0.005	A	15	35
PPP2R5E	5529	genome.wustl.edu	37	14	63842777	63842777	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:63842777C>T	ENST00000337537.3	-	14	1956	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.D447N|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.D376N	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	452					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AACTCCAGATCCTCCAATTTT	0.353													ENSG00000154001																																					0													238.0	204.0	215.0					14																	63842777		2203	4300	6503	SO:0001583	missense	0			-	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.1354G>A	14.37:g.63842777C>T	ENSP00000337641:p.Asp452Asn		A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.D452N	ENST00000337537.3	37	c.1354	CCDS9758.1	14	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434522	0.62955	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	N	0.08118	0	0.80722	D	1	B;B	0.29835	0.258;0.258	B;B	0.28709	0.093;0.093	T	0.35101	-0.9802	9	0.42905	T	0.14	-9.8479	20.1996	0.98256	0.0:1.0:0.0:0.0	.	447;452	B7ZKK9;Q16537	.;2A5E_HUMAN	N	452;447;376	.	ENSP00000337641:D452N	D	-	1	0	PPP2R5E	62912530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.776000	0.95493	0.650000	0.86243	GAT	-	PPP2R5E	-	pfam_PP2A_B56,pirsf_PP2A_B56		0.353	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	HGNC	protein_coding	OTTHUMT00000276973.1	0	0		76	76		0.00		C	NM_006246		63842777	-1	29		23		tier1	no_errors	ENST00000337537	ensembl	human	known	74_37	missense	55.77		SNP	1.000	T	29	23
SVEP1	79987	genome.wustl.edu	37	9	113171131	113171131	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113171131T>C	ENST00000401783.2	-	38	7085	c.6749A>G	c.(6748-6750)cAc>cGc	p.H2250R	SVEP1_ENST00000374469.1_Missense_Mutation_p.H2227R|SVEP1_ENST00000297826.5_Missense_Mutation_p.H176R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2250	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGTGCCAGTGGCGATTGGC	0.493													ENSG00000165124																																					0													139.0	145.0	143.0					9																	113171131		2040	4204	6244	SO:0001583	missense	0			-	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6749A>G	9.37:g.113171131T>C	ENSP00000384917:p.His2250Arg		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.H2250R	ENST00000401783.2	37	c.6749	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734760	0.30774	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.62364	0.03;0.03;0.03	5.95	5.95	0.96441	Complement control module (2);Sushi/SCR/CCP (3);	0.192687	0.56097	D	0.000025	T	0.45856	0.1363	N	0.13198	0.31	0.80722	D	1	P	0.39352	0.669	B	0.38106	0.265	T	0.43081	-0.9413	10	0.14656	T	0.56	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	2250	Q4LDE5	SVEP1_HUMAN	R	2250;2227;176	ENSP00000384917:H2250R;ENSP00000363593:H2227R;ENSP00000297826:H176R	ENSP00000297826:H176R	H	-	2	0	SVEP1	112210952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.055000	0.71103	2.279000	0.76181	0.533000	0.62120	CAC	-	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		0	0		85	85		0.00		T			113171131	-1	30		90		tier1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	25.00		SNP	1.000	C	30	90
SPSB3	90864	genome.wustl.edu	37	16	1831411	1831411	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1831411C>T	ENST00000566339.1	-	2	404	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	NUBP2_ENST00000565987.1_5'Flank|SPSB3_ENST00000301717.4_Missense_Mutation_p.R25Q|NUBP2_ENST00000543305.1_5'Flank|NUBP2_ENST00000568706.1_5'Flank|NUBP2_ENST00000565134.1_5'Flank|NUBP2_ENST00000262302.9_5'Flank	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	25					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGCCACGGCCCGGGCATCTGC	0.632													ENSG00000162032																																					0													39.0	38.0	38.0					16																	1831411		2198	4300	6498	SO:0001583	missense	0			-		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.74G>A	16.37:g.1831411C>T	ENSP00000457206:p.Arg25Gln		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.R25Q	ENST00000566339.1	37	c.74	CCDS32365.1	16	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499152	0.44455	.	.	ENSG00000162032	ENST00000301717	T	0.48522	0.81	4.18	3.19	0.36642	.	0.000000	0.64402	D	0.000002	T	0.50086	0.1595	M	0.67953	2.075	0.38842	D	0.95607	D;D	0.56746	0.97;0.977	P;B	0.47915	0.561;0.312	T	0.58725	-0.7586	10	0.51188	T	0.08	-35.7182	11.2024	0.48749	0.0:0.9051:0.0:0.0949	.	25;25	B7Z7H9;Q6PJ21	.;SPSB3_HUMAN	Q	25	ENSP00000301717:R25Q	ENSP00000301717:R25Q	R	-	2	0	SPSB3	1771412	1.000000	0.71417	0.043000	0.18650	0.401000	0.30781	2.797000	0.47877	2.172000	0.68678	0.462000	0.41574	CGG	-	SPSB3	-	NULL		0.632	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB3	HGNC	protein_coding	OTTHUMT00000433512.1	0	0		57	57		0.00		C	NM_080861		1831411	-1	29		60		tier1	no_errors	ENST00000301717	ensembl	human	known	74_37	missense	32.58		SNP	0.993	T	29	60
GPR123	84435	genome.wustl.edu	37	10	134906509	134906509	+	Intron	SNP	A	A	C	rs574057749		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:134906509A>C	ENST00000392607.3	+	3	439				GPR123_ENST00000607359.1_Silent_p.R594R	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123						G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCAGGAAAGAAGGTTCCTCAG	0.602													ENSG00000197177																																					0													41.0	44.0	43.0					10																	134906509		1568	3580	5148	SO:0001627	intron_variant	0			-	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.4-3969A>C	10.37:g.134906509A>C			A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.R594	ENST00000392607.3	37	c.1780	CCDS41580.1	10																																																																																			-	GPR123	-	NULL		0.602	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	0	0		124	124		0.00		A			134906509	+1	30		129		tier1	no_errors	ENST00000607359	ensembl	human	putative	74_37	silent	18.87		SNP	0.018	C	30	129
HNF1A	6927	genome.wustl.edu	37	12	121434601	121434601	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:121434601G>A	ENST00000402929.1	+	6	1500	c.1365G>A	c.(1363-1365)caG>caA	p.Q455Q	HNF1A_ENST00000400024.2_Intron|HNF1A_ENST00000257555.6_Intron|HNF1A_ENST00000541395.1_Intron|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000543427.1_Silent_p.Q338Q|HNF1A_ENST00000544413.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	0					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCAACCGCAGAATCCAGGAG	0.552									Hepatic Adenoma, Familial Clustering of				ENSG00000135100																																					0																																										SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	-	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000402929.1:c.1365G>A	12.37:g.121434601G>A			A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_D-bd_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q338	ENST00000402929.1	37	c.1014		12																																																																																			-	HNF1A	-	NULL		0.552	HNF1A-003	PUTATIVE	basic	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320959.3	0	0		26	26		0.00		G	NM_000545		121434601	+1	22		21		tier1	no_errors	ENST00000543427	ensembl	human	known	74_37	silent	51.16		SNP	0.001	A	22	21
BAI3	577	genome.wustl.edu	37	6	69949033	69949033	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:69949033G>A	ENST00000370598.1	+	20	3550	c.2729G>A	c.(2728-2730)aGa>aAa	p.R910K	BAI3_ENST00000238918.8_Missense_Mutation_p.R116K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	910					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CGCTCTGAGAGATCCATAATA	0.368													ENSG00000135298																																					0													187.0	181.0	183.0					6																	69949033		2203	4298	6501	SO:0001583	missense	0			-	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2729G>A	6.37:g.69949033G>A	ENSP00000359630:p.Arg910Lys		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R910K	ENST00000370598.1	37	c.2729	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771855	0.90108	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.55588	0.51;1.22	5.26	4.39	0.52855	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	M	0.81942	2.565	0.80722	D	1	B;P;D	0.76494	0.0;0.92;0.999	B;D;D	0.80764	0.001;0.92;0.994	T	0.72896	-0.4153	10	0.72032	D	0.01	.	13.8407	0.63437	0.0739:0.0:0.9261:0.0	.	116;910;910	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	K	910;116	ENSP00000359630:R910K;ENSP00000238918:R116K	ENSP00000238918:R116K	R	+	2	0	BAI3	70005754	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.869000	0.99810	1.209000	0.43321	0.655000	0.94253	AGA	-	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	0	0		69	69		0.00		G			69949033	+1	11		43		tier1	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	20.37		SNP	1.000	A	11	43
TTLL1	25809	genome.wustl.edu	37	22	43459916	43459916	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:43459916C>T	ENST00000266254.7	-	7	890	c.650G>A	c.(649-651)gGg>gAg	p.G217E	TTLL1_ENST00000331018.7_Missense_Mutation_p.G217E	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	217	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CCGGCAAAACCCAAGCTTGTA	0.453													ENSG00000100271																																					0													189.0	178.0	181.0					22																	43459916		2203	4300	6503	SO:0001583	missense	0			-	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.650G>A	22.37:g.43459916C>T	ENSP00000266254:p.Gly217Glu		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.G217E	ENST00000266254.7	37	c.650	CCDS14043.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.463781|4.463781	0.84425|0.84425	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000331018;ENST00000266254|ENST00000495814	T;T|.	0.09445|.	2.98;2.98|.	5.98|5.98	4.95|4.95	0.65309|0.65309	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89241|0.89241	0.6659|0.6659	H|H	0.98802|0.98802	4.335|4.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.93562|0.93562	0.6896|0.6896	10|7	0.87932|0.72032	D|D	0|0.01	.|.	15.6515|15.6515	0.77099|0.77099	0.0:0.8636:0.1364:0.0|0.0:0.8636:0.1364:0.0	.|.	217;217|.	O95922-4;O95922|.	.;TTLL1_HUMAN|.	E|S	217|143	ENSP00000333734:G217E;ENSP00000266254:G217E|.	ENSP00000266254:G217E|ENSP00000418269:G143S	G|G	-|-	2|1	0|0	TTLL1|TTLL1	41789860|41789860	1.000000|1.000000	0.71417|0.71417	0.809000|0.809000	0.32408|0.32408	0.949000|0.949000	0.60115|0.60115	5.750000|5.750000	0.68712|0.68712	1.514000|1.514000	0.48869|0.48869	0.591000|0.591000	0.81541|0.81541	GGG|GGT	-	TTLL1	-	pfam_TTL/TTLL_fam		0.453	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	0	0		61	61		0.00		C	NM_012263		43459916	-1	43		52		tier1	no_errors	ENST00000266254	ensembl	human	known	74_37	missense	45.26		SNP	0.999	T	43	52
SLFN13	146857	genome.wustl.edu	37	17	33772137	33772137	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33772137G>A	ENST00000285013.6	-	3	838	c.563C>T	c.(562-564)cCt>cTt	p.P188L	SLFN13_ENST00000526861.1_Missense_Mutation_p.P188L|SLFN13_ENST00000533791.1_Missense_Mutation_p.P188L|SLFN13_ENST00000542635.1_Missense_Mutation_p.P188L|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	188						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCATATGCAGGATTTGACTC	0.348													ENSG00000154760																																					0													114.0	122.0	119.0					17																	33772137		2203	4300	6503	SO:0001583	missense	0			-	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.563C>T	17.37:g.33772137G>A	ENSP00000285013:p.Pro188Leu		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.P188L	ENST00000285013.6	37	c.563	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	G	6.161	0.397927	0.11696	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.01705	4.68;4.68;4.68	3.39	0.0369	0.14194	.	0.631717	0.13183	N	0.407305	T	0.01489	0.0048	L	0.35341	1.055	0.09310	N	1	P	0.48162	0.906	B	0.43445	0.42	T	0.42515	-0.9447	10	0.09843	T	0.71	.	5.1157	0.14833	0.4867:0.0:0.5133:0.0	.	188	Q68D06	SLN13_HUMAN	L	188	ENSP00000285013:P188L;ENSP00000434439:P188L;ENSP00000444016:P188L	ENSP00000285013:P188L	P	-	2	0	SLFN13	30796250	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.056000	0.11787	0.188000	0.20168	-0.351000	0.07748	CCT	-	SLFN13	-	NULL		0.348	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	0	0		35	35		0.00		G	NM_144682		33772137	-1	14		35		tier1	no_errors	ENST00000285013	ensembl	human	known	74_37	missense	28.57		SNP	0.000	A	14	35
HAP1	9001	genome.wustl.edu	37	17	39888488	39888488	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39888488C>T	ENST00000310778.5	-	3	717	c.708G>A	c.(706-708)aaG>aaA	p.K236K	RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Silent_p.K236K|HAP1_ENST00000341193.5_Silent_p.K244K|HAP1_ENST00000393939.2_Silent_p.K236K|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	236	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTACCTCCTCCTTGGCTGAGC	0.602													ENSG00000173805																																					0													66.0	64.0	64.0					17																	39888488		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.708G>A	17.37:g.39888488C>T			A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	pfam_HAP1_N	p.K236	ENST00000310778.5	37	c.708		17																																																																																			-	HAP1	-	pfam_HAP1_N		0.602	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	0	0		75	75		0.00		C	NM_003949		39888488	-1	33		69		tier1	no_errors	ENST00000310778	ensembl	human	known	74_37	silent	32.35		SNP	1.000	T	33	69
WWC1	23286	genome.wustl.edu	37	5	167850770	167850770	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:167850770G>A	ENST00000265293.4	+	11	2009	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	WWC1_ENST00000521089.1_Missense_Mutation_p.E503K	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	503					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|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)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CACCATCCACGAGGATGAGGT	0.642													ENSG00000113645																																					0													64.0	57.0	60.0					5																	167850770		2203	4300	6503	SO:0001583	missense	0			-	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1507G>A	5.37:g.167850770G>A	ENSP00000265293:p.Glu503Lys		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.E503K	ENST00000265293.4	37	c.1507	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.764095|3.764095	0.69878|0.69878	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895;ENST00000524228	T;T|.	0.47528|.	0.84;0.84|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.056407|.	0.64402|.	D|.	0.000001|.	T|T	0.71247|0.71247	0.3317|0.3317	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.60160|.	0.987;0.974;0.974;0.974|.	P;P;P;B|.	0.48921|.	0.533;0.595;0.595;0.369|.	T|T	0.68637|0.68637	-0.5356|-0.5356	10|5	0.26408|.	T|.	0.33|.	.|.	18.8007|18.8007	0.92015|0.92015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	503;409;409;503|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	K|Q	503|464;279	ENSP00000265293:E503K;ENSP00000427772:E503K|.	ENSP00000265293:E503K|.	E|R	+|+	1|2	0|0	WWC1|WWC1	167783348|167783348	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.452000|0.452000	0.32318|0.32318	9.863000|9.863000	0.99569|0.99569	2.437000|2.437000	0.82529|0.82529	0.655000|0.655000	0.94253|0.94253	GAG|CGA	-	WWC1	-	NULL		0.642	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	0	0		19	19		0.00		G	NM_015238		167850770	+1	14		16		tier1	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	43.75		SNP	1.000	A	14	16
ADAM21P1	145241	genome.wustl.edu	37	14	70713787	70713787	+	RNA	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:70713787T>C	ENST00000530196.1	-	0	731					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CAGCAAATTTTGGTTCCAGAG	0.443													ENSG00000235812																																					0																																												0			-			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713787T>C				R	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			-	ADAM21P1	-	-		0.443	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	0	0		61	61		0.00		T	NG_002467		70713787	-1	33		25		tier1	no_errors	ENST00000530196	ensembl	human	known	74_37	rna	56.90		SNP	0.018	C	33	25
POLQ	10721	genome.wustl.edu	37	3	121207022	121207022	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:121207022C>A	ENST00000264233.5	-	16	4884	c.4756G>T	c.(4756-4758)Gta>Tta	p.V1586L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1586					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)		CTAGGAGATACTACAGTATGA	0.373								DNA polymerases (catalytic subunits)					ENSG00000051341																									Pancreas(152;907 1925 26081 31236 36904)												0													139.0	133.0	135.0					3																	121207022		2203	4300	6503	SO:0001583	missense	0			-	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4756G>T	3.37:g.121207022C>A	ENSP00000264233:p.Val1586Leu		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_D-dir_D_pol_A_palm_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_D-dir_D_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_D_polymerase_A	p.V1586L	ENST00000264233.5	37	c.4756	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	4.128	0.022055	0.08006	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48522	0.81	6.17	2.1	0.27182	.	0.988395	0.08256	N	0.973841	T	0.29158	0.0725	L	0.29908	0.895	0.09310	N	1	B;B	0.33171	0.278;0.4	B;B	0.30029	0.023;0.11	T	0.23332	-1.0191	10	0.30078	T	0.28	.	0.9131	0.01298	0.2697:0.3786:0.1312:0.2206	.	1586;758	O75417;O75417-2	DPOLQ_HUMAN;.	L	1209;1586;1722	ENSP00000264233:V1586L	ENSP00000264233:V1586L	V	-	1	0	POLQ	122689712	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.057000	0.14279	0.431000	0.26258	0.655000	0.94253	GTA	-	POLQ	-	NULL		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	0	0		31	31		0.00		C	NM_199420		121207022	-1	4		21		tier1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	16.00		SNP	0.000	A	4	21
CALCR	799	genome.wustl.edu	37	7	93101772	93101772	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:93101772T>A	ENST00000394441.1	-	5	659	c.344A>T	c.(343-345)aAa>aTa	p.K115I	CALCR_ENST00000426151.1_Missense_Mutation_p.K115I|CALCR_ENST00000360249.4_Missense_Mutation_p.K115I|CALCR_ENST00000421592.1_Missense_Mutation_p.K115I|CALCR_ENST00000359558.2_Missense_Mutation_p.K133I	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	133					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CCAAACACCTTTTTCATCACA	0.318													ENSG00000004948																																					0													161.0	144.0	150.0					7																	93101772		2203	4299	6502	SO:0001583	missense	0			-	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.344A>T	7.37:g.93101772T>A	ENSP00000377959:p.Lys115Ile		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.K133I	ENST00000394441.1	37	c.398	CCDS5631.1	7	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948106	0.34377	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.55	-1.48	0.08745	.	.	.	.	.	T	0.48447	0.1500	L	0.34521	1.04	0.09310	N	1	B;B	0.25904	0.137;0.009	B;B	0.29440	0.091;0.102	T	0.46020	-0.9221	9	0.87932	D	0	.	7.8636	0.29524	0.0:0.1352:0.4719:0.3929	.	133;115	F5H605;A4D1G6	.;.	I	133;115;115;115;115;115	ENSP00000352561:K133I;ENSP00000353385:K115I;ENSP00000399552:K115I;ENSP00000377959:K115I;ENSP00000389295:K115I	ENSP00000352561:K133I	K	-	2	0	CALCR	92939708	0.047000	0.20315	0.000000	0.03702	0.049000	0.14656	1.381000	0.34362	-0.393000	0.07739	-1.148000	0.01847	AAA	-	CALCR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.318	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	HGNC	protein_coding	OTTHUMT00000254661.2	0	0		61	61		0.00		T	NM_001742		93101772	-1	23		71		tier1	no_errors	ENST00000359558	ensembl	human	known	74_37	missense	24.47		SNP	0.001	A	23	71
PIGG	54872	genome.wustl.edu	37	4	517561	517561	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:517561C>T	ENST00000453061.2	+	9	2034	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	PIGG_ENST00000310340.5_Missense_Mutation_p.S635F|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.S510F|PIGG_ENST00000504346.1_Missense_Mutation_p.S554F	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	643					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CCCTCTACCTCCGAAGTGCTC	0.637													ENSG00000174227																																					0													44.0	42.0	43.0					4																	517561		2203	4299	6502	SO:0001583	missense	0			-		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1928C>T	4.37:g.517561C>T	ENSP00000415203:p.Ser643Phe		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S643F	ENST00000453061.2	37	c.1928	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	C	5.860	0.342771	0.11069	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.10192	3.21;3.21;2.9;2.9	5.02	1.77	0.24775	.	3.294330	0.00853	N	0.001849	T	0.08891	0.0220	L	0.29908	0.895	0.09310	N	0.999995	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.003	T	0.35574	-0.9783	10	0.10377	T	0.69	.	6.7924	0.23707	0.0:0.3347:0.0:0.6653	.	510;643;635	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	F	635;643;554;510	ENSP00000311750:S635F;ENSP00000415203:S643F;ENSP00000424800:S554F;ENSP00000372494:S510F	ENSP00000311750:S635F	S	+	2	0	PIGG	507561	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.124000	0.15728	0.246000	0.21394	0.655000	0.94253	TCC	-	PIGG	-	NULL		0.637	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	0	0		17	17		0.00		C	NM_017733		517561	+1	13		30		tier1	no_errors	ENST00000453061	ensembl	human	known	74_37	missense	30.23		SNP	0.005	T	13	30
DTX2	113878	genome.wustl.edu	37	7	76112410	76112410	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:76112410C>T	ENST00000324432.5	+	5	1364	c.854C>T	c.(853-855)tCc>tTc	p.S285F	DTX2_ENST00000430490.2_Missense_Mutation_p.S285F|DTX2_ENST00000413936.2_Missense_Mutation_p.S285F|DTX2_ENST00000446820.2_Missense_Mutation_p.S285F|DTX2_ENST00000446600.1_Missense_Mutation_p.S194F|DTX2_ENST00000307569.8_Missense_Mutation_p.S285F	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	285					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCCAGCCTCTCCCACCTGGGA	0.692													ENSG00000091073																																					0													23.0	27.0	26.0					7																	76112410		2144	4202	6346	SO:0001583	missense	0			-		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.854C>T	7.37:g.76112410C>T	ENSP00000322885:p.Ser285Phe		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.S285F	ENST00000324432.5	37	c.854	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	17.23	3.337515	0.60963	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.13089	2.63;2.62;2.63;2.63;2.63;2.62	4.79	2.89	0.33648	.	0.822631	0.10881	N	0.623769	T	0.23133	0.0559	L	0.46157	1.445	0.33083	D	0.536847	D;D;D	0.65815	0.995;0.989;0.981	P;P;P	0.59643	0.861;0.73;0.635	T	0.27640	-1.0068	10	0.62326	D	0.03	-19.8504	5.5984	0.17339	0.1949:0.7015:0.0:0.1036	.	194;285;285	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	F	285;285;194;194;285;285;285	ENSP00000322885:S285F;ENSP00000305242:S285F;ENSP00000397648:S194F;ENSP00000390218:S285F;ENSP00000411986:S285F;ENSP00000392545:S285F	ENSP00000305242:S285F	S	+	2	0	AC005522.1	75950346	0.977000	0.34250	1.000000	0.80357	0.981000	0.71138	2.080000	0.41586	0.398000	0.25338	0.561000	0.74099	TCC	-	DTX2	-	NULL		0.692	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	0	0		19	19		0.00		C			76112410	+1	17		17		tier1	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	50.00		SNP	0.997	T	17	17
LMX1A	4009	genome.wustl.edu	37	1	165182896	165182896	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:165182896G>A	ENST00000342310.3	-	5	1033	c.651C>T	c.(649-651)tcC>tcT	p.S217S	RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000367893.4_Silent_p.S217S|LMX1A_ENST00000489443.2_5'Flank|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000294816.2_Silent_p.S217S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	217					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGGCTTGGAGGATACTTCAA	0.557													ENSG00000162761																																					0													174.0	158.0	163.0					1																	165182896		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.651C>T	1.37:g.165182896G>A			B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.S217	ENST00000342310.3	37	c.651	CCDS1247.1	1																																																																																			-	LMX1A	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.557	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMX1A	HGNC	protein_coding	OTTHUMT00000083668.2	0	0		62	62		0.00		G	NM_177398		165182896	-1	29		71		tier1	no_errors	ENST00000294816	ensembl	human	known	74_37	silent	29.00		SNP	0.997	A	29	71
LDHAL6CP	121498	genome.wustl.edu	37	12	63397952	63397952	+	lincRNA	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:63397952T>G	ENST00000552996.1	-	0	1070				LDHAL6CP_ENST00000550738.1_RNA																							AAAAACCGTGTTATTGGAAGC	0.443													ENSG00000250517																																					0																																												0			-																													12.37:g.63397952T>G				R	SNP	-	NULL	ENST00000552996.1	37	NULL		12																																																																																			-	LDHAL6CP	-	-		0.443	RP11-848D3.5-001	KNOWN	basic	lincRNA	LDHAL6CP	HGNC	lincRNA	OTTHUMT00000406731.1	0	0		53	53		0.00		T			63397952	+1	12		67		tier1	no_errors	ENST00000550738	ensembl	human	known	74_37	rna	15.19		SNP	1.000	G	12	67
HPS4	89781	genome.wustl.edu	37	22	26861486	26861486	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:26861486G>A	ENST00000398145.2	-	10	1354	c.738C>T	c.(736-738)atC>atT	p.I246I	HPS4_ENST00000398141.1_Silent_p.I259I|HPS4_ENST00000336873.5_Silent_p.I246I|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Silent_p.I241I	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	246					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CAAAAACAGGGATAATCTGGA	0.517									Hermansky-Pudlak syndrome				ENSG00000100099																																					0													128.0	114.0	119.0					22																	26861486		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	-		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.738C>T	22.37:g.26861486G>A			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	NULL	p.I259	ENST00000398145.2	37	c.777	CCDS13835.1	22																																																																																			-	HPS4	-	NULL		0.517	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	0	0		30	30		0.00		G	NM_022081		26861486	-1	17		46		tier1	no_errors	ENST00000398141	ensembl	human	known	74_37	silent	26.98		SNP	0.469	A	17	46
SRPK1	6732	genome.wustl.edu	37	6	35838095	35838095	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35838095T>A	ENST00000373825.2	-	10	1239	c.954A>T	c.(952-954)aaA>aaT	p.K318N	SRPK1_ENST00000373822.1_Missense_Mutation_p.K211N|SRPK1_ENST00000423325.2_Missense_Mutation_p.K302N					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GTGGGTTCTCTTTCAAGGGTC	0.378													ENSG00000096063																									NSCLC(31;67 978 16289 24856 26454)												0													115.0	106.0	109.0					6																	35838095		1824	4069	5893	SO:0001583	missense	0			-	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.954A>T	6.37:g.35838095T>A	ENSP00000362931:p.Lys318Asn			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.K318N	ENST00000373825.2	37	c.954	CCDS47415.1	6	.	.	.	.	.	.	.	.	.	.	T	11.86	1.764686	0.31228	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.28454	1.62;1.62;1.61;1.67	5.61	3.13	0.36017	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.29172	N	0.877099	B;B	0.11235	0.0;0.004	B;B	0.06405	0.002;0.002	T	0.30851	-0.9964	9	0.36615	T	0.2	-8.752	6.4101	0.21686	0.1385:0.0744:0.0:0.7871	.	302;318	B4DS61;Q96SB4	.;SRPK1_HUMAN	N	318;334;302;211;56	ENSP00000362931:K318N;ENSP00000354674:K334N;ENSP00000391069:K302N;ENSP00000362928:K211N	ENSP00000354674:K334N	K	-	3	2	SRPK1	35946073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.455000	0.44988	0.971000	0.38288	0.454000	0.30748	AAA	-	SRPK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.378	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3	0	0		52	52		0.00		T	NM_003137		35838095	-1	10		35		tier1	no_errors	ENST00000373825	ensembl	human	known	74_37	missense	22.22		SNP	1.000	A	10	35
TMEM231	79583	genome.wustl.edu	37	16	75579824	75579824	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:75579824C>T	ENST00000258173.6	-	3	414	c.338G>A	c.(337-339)gGg>gAg	p.G113E	TMEM231_ENST00000568377.1_Missense_Mutation_p.G142E|TMEM231_ENST00000565067.1_Missense_Mutation_p.G113E|RP11-77K12.7_ENST00000460606.1_5'Flank|TMEM231_ENST00000569294.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	113					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCCGTCTTCCCATCCTGGTT	0.507													ENSG00000205084																																					0													8.0	7.0	8.0					16																	75579824		1781	3996	5777	SO:0001583	missense	0			-		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.338G>A	16.37:g.75579824C>T	ENSP00000258173:p.Gly113Glu		A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP	pfam_TMEM231	p.G142E	ENST00000258173.6	37	c.425	CCDS45530.1	16	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227372	0.79576	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	T;T	0.67523	-0.27;-0.27	3.94	3.94	0.45596	.	0.100273	0.64402	D	0.000002	D	0.82393	0.5027	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.86013	0.1502	10	0.87932	D	0	-25.8343	15.4423	0.75195	0.0:1.0:0.0:0.0	.	142;113;142	B3KU85;Q9H6L2;G5E9E3	.;TM231_HUMAN;.	E	113;142	ENSP00000258173:G113E;ENSP00000381184:G142E	ENSP00000258173:G113E	G	-	2	0	TMEM231	74137325	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.967000	0.76079	2.146000	0.66826	0.460000	0.39030	GGG	-	TMEM231	-	pfam_TMEM231		0.507	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM231	HGNC	protein_coding	OTTHUMT00000435481.2	0	0		45	45		0.00		C	NM_001077416		75579824	-1	12		14		tier1	no_errors	ENST00000568377	ensembl	human	known	74_37	missense	46.15		SNP	1.000	T	12	14
DGKH	160851	genome.wustl.edu	37	13	42773788	42773788	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:42773788G>A	ENST00000337343.4	+	19	2393	c.2372G>A	c.(2371-2373)aGa>aAa	p.R791K	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.R791K|DGKH_ENST00000538674.1_Missense_Mutation_p.R546K|DGKH_ENST00000261491.5_Missense_Mutation_p.R791K|DGKH_ENST00000536612.1_Missense_Mutation_p.R655K|DGKH_ENST00000379274.2_Missense_Mutation_p.R655K	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	791					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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATAATAAAAGAGAGGAGCAC	0.294													ENSG00000102780																																					0													21.0	23.0	22.0					13																	42773788		2173	4274	6447	SO:0001583	missense	0			-	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2372G>A	13.37:g.42773788G>A	ENSP00000337572:p.Arg791Lys		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R791K	ENST00000337343.4	37	c.2372	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.332374	0.95733	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.79	5.79	0.91817	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.87811	0.6271	H	0.94734	3.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.999;0.997;0.999	D	0.90385	0.4391	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	546;655;791;791	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	K	791;791;791;655;655;546	ENSP00000440823:R791K;ENSP00000337572:R791K;ENSP00000261491:R791K;ENSP00000368576:R655K;ENSP00000445114:R655K;ENSP00000441308:R546K	ENSP00000261491:R791K	R	+	2	0	DGKH	41671788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.827000	0.99397	2.727000	0.93392	0.591000	0.81541	AGA	-	DGKH	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.294	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	0	0		75	75		0.00		G	NM_178009		42773788	+1	16		50		tier1	no_errors	ENST00000337343	ensembl	human	known	74_37	missense	24.24		SNP	1.000	A	16	50
TMPRSS9	360200	genome.wustl.edu	37	19	2416595	2416595	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:2416595G>A	ENST00000332578.3	+	11	1703	c.1703G>A	c.(1702-1704)gGg>gAg	p.G568E		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	568	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTGGGCGGGAGCCCGGTG	0.687													ENSG00000178297																																					0													39.0	39.0	39.0					19																	2416595		2203	4296	6499	SO:0001583	missense	0			-	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1703G>A	19.37:g.2416595G>A	ENSP00000330264:p.Gly568Glu		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G568E	ENST00000332578.3	37	c.1703	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585474	0.46110	.	.	ENSG00000178297	ENST00000332578	D	0.89681	-2.55	5.17	5.17	0.71159	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000021	D	0.83977	0.5371	N	0.12182	0.205	0.31479	N	0.667396	D	0.54207	0.965	P	0.55345	0.774	T	0.79227	-0.1890	10	0.10111	T	0.7	.	13.0178	0.58768	0.0:0.1625:0.8374:0.0	.	568	Q7Z410	TMPS9_HUMAN	E	568	ENSP00000330264:G568E	ENSP00000330264:G568E	G	+	2	0	TMPRSS9	2367595	0.084000	0.21492	0.987000	0.45799	0.415000	0.31203	0.937000	0.28951	2.415000	0.81967	0.484000	0.47621	GGG	-	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.687	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	0	0		25	25		0.00		G	NM_182973		2416595	+1	12		43		tier1	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	21.82		SNP	0.659	A	12	43
ZNF534	147658	genome.wustl.edu	37	19	52942154	52942154	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:52942154C>T	ENST00000332323.6	+	4	1541	c.1480C>T	c.(1480-1482)Ctt>Ttt	p.L494F	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.L481F|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	494					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)|lung(1)|prostate(1)|skin(1)	4						GAATTCAAACCTTCAACGACA	0.413													ENSG00000198633																																					0													38.0	35.0	36.0					19																	52942154		692	1591	2283	SO:0001583	missense	0			-	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1480C>T	19.37:g.52942154C>T	ENSP00000327538:p.Leu494Phe		Q76KX9	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.L494F	ENST00000332323.6	37	c.1480	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497505	0.44455	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.52057	0.68;0.68	1.8	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64461	0.2600	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.843;0.999	T	0.65977	-0.6037	9	0.54805	T	0.06	.	10.5681	0.45184	0.0:1.0:0.0:0.0	.	481;494	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	F	494;481;493	ENSP00000327538:L494F;ENSP00000391358:L481F	ENSP00000327538:L494F	L	+	1	0	ZNF534	57633966	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.076000	0.11412	0.972000	0.38314	0.453000	0.30009	CTT	-	ZNF534	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	0	0		80	80		0.00		C	NM_182512		52942154	+1	13		51		tier1	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	20.31		SNP	0.344	T	13	51
SLFN13	146857	genome.wustl.edu	37	17	33767962	33767962	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33767962G>A	ENST00000285013.6	-	6	2621	c.2346C>T	c.(2344-2346)aaC>aaT	p.N782N	SLFN13_ENST00000526861.1_Silent_p.N782N|SLFN13_ENST00000533791.1_Silent_p.N782N|SLFN13_ENST00000542635.1_Silent_p.N782N|SLFN13_ENST00000534689.1_Silent_p.N464N|SLFN13_ENST00000360502.2_Silent_p.N464N	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	782						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCAAAGTAAAGTTTTTAATAA	0.438													ENSG00000154760																																					0													75.0	76.0	76.0					17																	33767962		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2346C>T	17.37:g.33767962G>A			E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.N782	ENST00000285013.6	37	c.2346	CCDS32620.1	17																																																																																			-	SLFN13	-	superfamily_P-loop_NTPase		0.438	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	0	0		30	30		0.00		G	NM_144682		33767962	-1	14		24		tier1	no_errors	ENST00000285013	ensembl	human	known	74_37	silent	36.84		SNP	0.005	A	14	24
GUCY1B3	2983	genome.wustl.edu	37	4	156724875	156724875	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:156724875G>A	ENST00000264424.8	+	11	1595	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E480K|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E437K|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E437K|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E485K|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E472K|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E527K	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	505	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GGACATGATGGAAATTGCTGG	0.423													ENSG00000061918																																					0													76.0	78.0	78.0					4																	156724875		1950	4158	6108	SO:0001583	missense	0			-	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1513G>A	4.37:g.156724875G>A	ENSP00000264424:p.Glu505Lys		B7Z426|Q86WY5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E505K	ENST00000264424.8	37	c.1513	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043880	0.75732	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	L	0.28608	0.87	0.80722	D	1	B;B;B;B;B	0.19073	0.033;0.007;0.026;0.026;0.005	B;B;B;B;B	0.21546	0.032;0.011;0.035;0.019;0.02	T	0.66304	-0.5957	10	0.12766	T	0.61	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	485;527;480;472;505	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	K	437;527;485;480;505;472;437	ENSP00000427226:E437K;ENSP00000426786:E527K;ENSP00000426319:E485K;ENSP00000422313:E480K;ENSP00000264424:E505K;ENSP00000420842:E472K;ENSP00000425065:E437K	ENSP00000264424:E505K	E	+	1	0	GUCY1B3	156944325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.805000	0.99149	2.793000	0.96121	0.655000	0.94253	GAA	-	GUCY1B3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.423	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	0	0		49	49		0.00		G			156724875	+1	15		50		tier1	no_errors	ENST00000264424	ensembl	human	known	74_37	missense	23.08		SNP	1.000	A	15	50
PHIP	55023	genome.wustl.edu	37	6	79707142	79707142	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:79707142A>G	ENST00000275034.4	-	19	2357	c.2190T>C	c.(2188-2190)gcT>gcC	p.A730A		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	730					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGGCTACACCAGCTGATAGCT	0.468													ENSG00000146247																																					0													153.0	135.0	141.0					6																	79707142		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2190T>C	6.37:g.79707142A>G			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.A730	ENST00000275034.4	37	c.2190	CCDS4987.1	6																																																																																			-	PHIP	-	NULL		0.468	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	0	0		28	28		0.00		A			79707142	-1	12		17		tier1	no_errors	ENST00000275034	ensembl	human	known	74_37	silent	41.38		SNP	0.926	G	12	17
ZNF732	654254	genome.wustl.edu	37	4	265861	265861	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:265861G>A	ENST00000419098.1	-	4	795	c.785C>T	c.(784-786)tCc>tTc	p.S262F		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						AAGGGTTGAGGACCTATTAAA	0.373													ENSG00000186777																																					0													59.0	51.0	54.0					4																	265861		692	1591	2283	SO:0001583	missense	0			-	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.785C>T	4.37:g.265861G>A	ENSP00000415774:p.Ser262Phe			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.S262F	ENST00000419098.1	37	c.785	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	6.446	0.450374	0.12223	.	.	ENSG00000186777	ENST00000419098	T	0.16196	2.36	0.937	-0.906	0.10524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16428	0.0395	M	0.76574	2.34	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.35176	-0.9799	9	0.20519	T	0.43	.	5.5301	0.16980	0.0:0.5979:0.4021:0.0	.	262	B4DXR9	ZN732_HUMAN	F	262	ENSP00000415774:S262F	ENSP00000415774:S262F	S	-	2	0	ZNF732	255861	0.000000	0.05858	0.086000	0.20670	0.079000	0.17450	-2.831000	0.00743	0.392000	0.25172	0.393000	0.25936	TCC	-	ZNF732	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	0	0		39	39		0.00		G	NM_001137608		265861	-1	19		35		tier1	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	35.19		SNP	0.000	A	19	35
GIGYF1	64599	genome.wustl.edu	37	7	100284304	100284304	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100284304C>T	ENST00000275732.5	-	7	1871	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	221					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCGCCGTCTCGCCGGGGCCC	0.687													ENSG00000146830																																					0													26.0	31.0	30.0					7																	100284304		2200	4289	6489	SO:0001583	missense	0			-	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.662G>A	7.37:g.100284304C>T	ENSP00000275732:p.Arg221Gln		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R221Q	ENST00000275732.5	37	c.662	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	32	5.156060	0.94686	.	.	ENSG00000146830	ENST00000275732	D	0.83755	-1.76	4.96	4.96	0.65561	.	0.071472	0.53938	D	0.000053	D	0.86239	0.5885	L	0.55990	1.75	0.48975	D	0.999735	D	0.76494	0.999	P	0.56751	0.805	D	0.85224	0.1028	10	0.37606	T	0.19	-8.0326	15.7405	0.77891	0.0:1.0:0.0:0.0	.	221	O75420	PERQ1_HUMAN	Q	221	ENSP00000275732:R221Q	ENSP00000275732:R221Q	R	-	2	0	GIGYF1	100122240	0.837000	0.29446	1.000000	0.80357	0.489000	0.33432	4.956000	0.63645	2.571000	0.86741	0.563000	0.77884	CGA	-	GIGYF1	-	NULL		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	0	0		34	34		0.00		C	NM_022574		100284304	-1	23		26		tier1	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	46.94		SNP	1.000	T	23	26
ZNF844	284391	genome.wustl.edu	37	19	12186142	12186142	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12186142G>A	ENST00000439326.3	+	4	382	c.207G>A	c.(205-207)gaG>gaA	p.E69E	ZNF844_ENST00000441304.2_Missense_Mutation_p.R49K	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	69	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(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TTCTGGGAGAGAGAGTTGATG	0.323													ENSG00000223547																																					0													57.0	56.0	56.0					19																	12186142		692	1591	2283	SO:0001819	synonymous_variant	0			-	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.207G>A	19.37:g.12186142G>A			Q5JPI8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.R49K	ENST00000439326.3	37	c.146	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	G	7.021	0.558790	0.13436	.	.	ENSG00000223547	ENST00000441304	T	0.00691	5.84	1.56	0.49	0.16861	.	.	.	.	.	T	0.01029	0.0034	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48885	-0.8995	6	0.72032	D	0.01	.	4.3817	0.11297	0.1564:0.2335:0.6102:0.0	.	.	.	.	K	49	ENSP00000402097:R49K	ENSP00000402097:R49K	R	+	2	0	ZNF844	12047142	0.894000	0.30519	0.001000	0.08648	0.002000	0.02628	1.655000	0.37345	0.216000	0.20781	-0.279000	0.10071	AGA	-	ZNF844	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.323	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	0	0		121	121		0.00		G			12186142	+1	40		61		tier1	no_errors	ENST00000441304	ensembl	human	putative	74_37	missense	39.60		SNP	0.047	A	40	61
PTPN14	5784	genome.wustl.edu	37	1	214706579	214706579	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:214706579G>A	ENST00000366956.5	-	1	41				PTPN14_ENST00000491277.1_5'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14						lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCAGACCCAGGAAGAGGCGCA	0.642													ENSG00000152104																									Colon(92;557 1424 24372 34121 40073)												0																																										SO:0001627	intron_variant	0			-	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.153+17946C>T	1.37:g.214706579G>A			Q5VSI0	R	SNP	-	NULL	ENST00000366956.5	37	NULL	CCDS1514.1	1																																																																																			-	PTPN14	-	-		0.642	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	0	0		24	24		0.00		G	NM_005401		214706579	-1	19		21		tier1	no_errors	ENST00000491277	ensembl	human	putative	74_37	rna	47.50		SNP	0.012	A	19	21
ALDOA	226	genome.wustl.edu	37	16	30079987	30079987	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30079987C>T	ENST00000566897.1	+	7	1497	c.345C>T	c.(343-345)ccC>ccT	p.P115P	ALDOA_ENST00000563060.2_Silent_p.P115P|ALDOA_ENST00000569798.1_Silent_p.P115P|ALDOA_ENST00000395240.3_Silent_p.P115P|ALDOA_ENST00000395248.1_Silent_p.P169P|ALDOA_ENST00000569545.1_Silent_p.P115P|ALDOA_ENST00000338110.5_Silent_p.P115P|ALDOA_ENST00000564595.2_Silent_p.P169P|ALDOA_ENST00000564546.1_Silent_p.P115P|ALDOA_ENST00000412304.2_Silent_p.P115P			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	115					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCGTGGTCCCCCTGGCAGGGA	0.562													ENSG00000149925																																					0													137.0	117.0	124.0					16																	30079987		2197	4300	6497	SO:0001819	synonymous_variant	0			-	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.345C>T	16.37:g.30079987C>T			B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	pfam_Aldolase_I	p.P115	ENST00000566897.1	37	c.345	CCDS10668.1	16																																																																																			-	ALDOA	-	pfam_Aldolase_I		0.562	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	0	0		66	66		0.00		C	NM_000034		30079987	+1	33		72		tier1	no_errors	ENST00000338110	ensembl	human	known	74_37	silent	31.43		SNP	0.999	T	33	72
SLC30A3	7781	genome.wustl.edu	37	2	27480070	27480070	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:27480070G>A	ENST00000233535.4	-	5	1081	c.729C>T	c.(727-729)ctC>ctT	p.L243L	SLC30A3_ENST00000447008.2_Silent_p.L238L	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	243					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCTGCAGGAGGTCCCCCA	0.632													ENSG00000115194																																					0													72.0	69.0	70.0					2																	27480070		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.729C>T	2.37:g.27480070G>A			Q8TC03	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L243	ENST00000233535.4	37	c.729	CCDS1743.1	2																																																																																			-	SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.632	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	0	0		73	73		0.00		G			27480070	-1	23		121		tier1	no_errors	ENST00000233535	ensembl	human	known	74_37	silent	15.97		SNP	0.993	A	23	121
SESTD1	91404	genome.wustl.edu	37	2	179977557	179977557	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179977557G>A	ENST00000428443.3	-	17	2171	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	619							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCTCTTCTGGACAGTCCTGC	0.398													ENSG00000187231																																					0													95.0	98.0	97.0					2																	179977557		2203	4300	6503	SO:0001583	missense	0			-	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1855C>T	2.37:g.179977557G>A	ENSP00000415332:p.Pro619Ser		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.P619S	ENST00000428443.3	37	c.1855	CCDS33338.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993446	0.74703	.	.	ENSG00000187231	ENST00000428443	T	0.04706	3.57	5.34	5.34	0.76211	.	0.240454	0.41938	D	0.000786	T	0.10809	0.0264	N	0.14661	0.345	0.58432	D	0.999994	D;D	0.89917	0.967;1.0	P;D	0.80764	0.901;0.994	T	0.49634	-0.8919	9	.	.	.	-11.8595	19.0384	0.92987	0.0:0.0:1.0:0.0	.	619;619	Q86VW0;B3KTX3	SESD1_HUMAN;.	S	619	ENSP00000415332:P619S	.	P	-	1	0	SESTD1	179685802	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.159000	0.77483	2.478000	0.83669	0.460000	0.39030	CCA	-	SESTD1	-	NULL		0.398	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	0	0		34	34		0.00		G	NM_178123		179977557	-1	5		28		tier1	no_errors	ENST00000428443	ensembl	human	known	74_37	missense	15.15		SNP	1.000	A	5	28
ZNF679	168417	genome.wustl.edu	37	7	63726669	63726669	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:63726669C>T	ENST00000421025.1	+	5	927	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ZNF679_ENST00000255746.4_Missense_Mutation_p.P220S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	220					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(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGCGGCAAACCCTTCAACTG	0.383													ENSG00000197123																																					0													62.0	63.0	62.0					7																	63726669		692	1591	2283	SO:0001583	missense	0			-	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.658C>T	7.37:g.63726669C>T	ENSP00000416809:p.Pro220Ser			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.P220S	ENST00000421025.1	37	c.658	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	C	2.740	-0.262429	0.05791	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.00801	5.68;5.68	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00271	0.0008	N	0.00072	-2.265	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46205	-0.9208	9	0.44086	T	0.13	.	2.2236	0.03979	0.3217:0.3552:0.3232:0.0	.	220	Q8IYX0	ZN679_HUMAN	S	220	ENSP00000416809:P220S;ENSP00000255746:P220S	ENSP00000255746:P220S	P	+	1	0	ZNF679	63364104	0.000000	0.05858	0.026000	0.17262	0.026000	0.11368	-0.552000	0.06020	0.191000	0.20236	0.194000	0.17425	CCC	-	ZNF679	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	0	0		78	78		0.00		C	NM_153363		63726669	+1	15		79		tier1	no_errors	ENST00000255746	ensembl	human	known	74_37	missense	15.96		SNP	0.006	T	15	79
BARX1	56033	genome.wustl.edu	37	9	96715201	96715201	+	Silent	SNP	C	C	T	rs142710643		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:96715201C>T	ENST00000253968.6	-	2	717	c.492G>A	c.(490-492)caG>caA	p.Q164Q	RP11-231K24.2_ENST00000453045.1_lincRNA|BARX1_ENST00000401724.1_Silent_p.Q10Q	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	164					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|digestive system development (GO:0055123)|epithelial cell differentiation (GO:0030855)|negative regulation of Wnt signaling pathway (GO:0030178)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)	1						AAAGGTACTTCTGCTTCTCGA	0.642													ENSG00000131668	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18931	0.0		0.0	False		,,,				2504	0.0																0								C		4,4396		0,4,2196	67.0	42.0	50.0		492	4.0	1.0	9	dbSNP_134	50	0,8596		0,0,4298	no	coding-synonymous	BARX1	NM_021570.3		0,4,6494	TT,TC,CC		0.0,0.0909,0.0308		164/255	96715201	4,12992	2200	4298	6498	SO:0001819	synonymous_variant	0			-		CCDS35070.2	9q22.32	2011-06-20	2007-07-09		ENSG00000131668	ENSG00000131668		"""Homeoboxes / ANTP class : NKL subclass"""	955	protein-coding gene	gene with protein product		603260	"""BarH-like homeobox 1"""				Standard	NM_021570		Approved		uc010mrh.3	Q9HBU1	OTTHUMG00000020255	ENST00000253968.6:c.492G>A	9.37:g.96715201C>T			Q6P2R4|Q96GH8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.Q164	ENST00000253968.6	37	c.492	CCDS35070.2	9																																																																																			rs142710643	BARX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.642	BARX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX1	HGNC	protein_coding	OTTHUMT00000053164.4	0	0		14	14		0.00		C			96715201	-1	8		11		tier1	no_errors	ENST00000253968	ensembl	human	known	74_37	silent	42.11		SNP	1.000	T	8	11
SGSM1	129049	genome.wustl.edu	37	22	25251312	25251312	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:25251312C>T	ENST00000400359.4	+	7	591	c.584C>T	c.(583-585)cCc>cTc	p.P195L	SGSM1_ENST00000400358.4_Missense_Mutation_p.P195L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	195						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGACCGATCCCTCGGCTGAC	0.632													ENSG00000167037																																					0													31.0	34.0	33.0					22																	25251312		2084	4210	6294	SO:0001583	missense	0			-	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.584C>T	22.37:g.25251312C>T	ENSP00000383212:p.Pro195Leu		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	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.P195L	ENST00000400359.4	37	c.584	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025124	0.75390	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.12774	2.65;2.65	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.97110	0.998;0.994;1.0;0.998;0.981	T	0.36720	-0.9736	10	0.87932	D	0	-2.9356	16.2209	0.82257	0.0:1.0:0.0:0.0	.	195;170;328;195;170	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	L	170;195;195	ENSP00000383211:P195L;ENSP00000383212:P195L	ENSP00000383211:P195L	P	+	2	0	SGSM1	23581312	1.000000	0.71417	0.984000	0.44739	0.570000	0.35934	7.712000	0.84684	2.124000	0.65301	0.579000	0.79373	CCC	-	SGSM1	-	NULL		0.632	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	0	0		26	26		0.00		C	XM_059318		25251312	+1	11		23		tier1	no_errors	ENST00000400359	ensembl	human	known	74_37	missense	32.35		SNP	1.000	T	11	23
ATP2A1	487	genome.wustl.edu	37	16	28912048	28912048	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:28912048G>A	ENST00000357084.3	+	15	2178	c.1911G>A	c.(1909-1911)cgG>cgA	p.R637R	ATP2A1_ENST00000536376.1_Silent_p.R512R|ATP2A1_ENST00000395503.4_Silent_p.R637R	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	637					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCATCTGCCGGCGAATTGGCA	0.642													ENSG00000196296																																					0													92.0	75.0	81.0					16																	28912048		2197	4300	6497	SO:0001819	synonymous_variant	0			-		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1911G>A	16.37:g.28912048G>A			A8K5J9|B3KY17|O14984	Silent	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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.R637	ENST00000357084.3	37	c.1911	CCDS10643.1	16																																																																																			-	ATP2A1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA		0.642	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	0	0		65	65		0.00		G	NM_004320		28912048	+1	34		55		tier1	no_errors	ENST00000357084	ensembl	human	known	74_37	silent	38.20		SNP	0.116	A	34	55
USP37	57695	genome.wustl.edu	37	2	219360518	219360518	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219360518C>T	ENST00000258399.3	-	14	1849	c.1437G>A	c.(1435-1437)ttG>ttA	p.L479L	USP37_ENST00000418019.1_Silent_p.L479L|USP37_ENST00000415516.1_Silent_p.L407L|USP37_ENST00000454775.1_Silent_p.L479L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	479	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTCAAACTCCAAATTAGTAA	0.343													ENSG00000135913																																					0													99.0	98.0	99.0					2																	219360518		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1437G>A	2.37:g.219360518C>T			A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.L479	ENST00000258399.3	37	c.1437	CCDS2418.1	2																																																																																			-	USP37	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.343	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	0	0		93	93		0.00		C	NM_020935		219360518	-1	14		95		tier1	no_errors	ENST00000258399	ensembl	human	known	74_37	silent	12.84		SNP	1.000	T	14	95
PCLO	27445	genome.wustl.edu	37	7	82763807	82763807	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82763807C>T	ENST00000333891.9	-	3	3396	c.3059G>A	c.(3058-3060)aGa>aAa	p.R1020K	PCLO_ENST00000423517.2_Missense_Mutation_p.R1020K	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						TGTTTCTGTTCTTTTTACTGT	0.433													ENSG00000186472																																					0													86.0	84.0	85.0					7																	82763807		1837	4083	5920	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.3059G>A	7.37:g.82763807C>T	ENSP00000334319:p.Arg1020Lys			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.R1020K	ENST00000333891.9	37	c.3059	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320724	0.23994	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.75477	-0.94;-0.94	6.0	2.13	0.27403	.	.	.	.	.	T	0.51652	0.1687	N	0.08118	0	0.54753	D	0.999984	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.38887	-0.9640	9	0.87932	D	0	.	6.917	0.24365	0.1248:0.6816:0.0:0.1936	.	1020;1020	Q9Y6V0-5;Q9Y6V0-6	.;.	K	966;1020;1020	ENSP00000334319:R1020K;ENSP00000388393:R1020K	ENSP00000334319:R1020K	R	-	2	0	PCLO	82601743	0.446000	0.25665	0.974000	0.42286	0.830000	0.47004	0.883000	0.28200	0.110000	0.17919	-0.140000	0.14226	AGA	-	PCLO	-	superfamily_Znf_FYVE_PHD		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		84	84		0.00		C	NM_014510		82763807	-1	18		83		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	17.82		SNP	0.854	T	18	83
CD8BP	927	genome.wustl.edu	37	2	107107405	107107405	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:107107405C>T	ENST00000416057.1	+	0	117							A6NJW9	CD8BL_HUMAN	CD8b molecule pseudogene						immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GTGATGCTGTCCTGCGAGGCT	0.527													ENSG00000254126																																					0																																												0			-			2q12.2	2012-10-03	2006-03-28	2006-03-09	ENSG00000254126	ENSG00000254126			1708	pseudogene	pseudogene			"""CD8 antigen, beta polypeptide 2, pseudogene (p37)"""	CD8B2		1541829	Standard	NG_002423		Approved			A6NJW9	OTTHUMG00000153183		2.37:g.107107405C>T				R	SNP	-	NULL	ENST00000416057.1	37	NULL		2																																																																																			-	CD8BP	-	-		0.527	CD8BP-002	KNOWN	basic	processed_transcript	CD8BP	HGNC	pseudogene	OTTHUMT00000331218.1	0	0		70	70		0.00		C	XM_166000		107107405	+1	31		45		tier1	no_errors	ENST00000416057	ensembl	human	known	74_37	rna	40.79		SNP	0.244	T	31	45
PSG9	5678	genome.wustl.edu	37	19	43716598	43716598	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:43716598G>A	ENST00000418820.2	-	0	1092				CEACAMP10_ENST00000489959.1_RNA			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ggaattggaggaactagtaga	0.403													ENSG00000241104																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000418820.2:c.*13C>T	19.37:g.43716598G>A			B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	R	SNP	-	NULL	ENST00000418820.2	37	NULL		19																																																																																			-	CEACAMP10	-	-		0.403	PSG9-011	PUTATIVE	basic	protein_coding	CEACAMP10	HGNC	protein_coding	OTTHUMT00000463916.1	0	0		45	45		0.00		G	NM_002784		43716598	-1	38		31		tier1	no_errors	ENST00000489959	ensembl	human	known	74_37	rna	55.07		SNP	0.118	A	38	31
BCL11A	53335	genome.wustl.edu	37	2	60687935	60687935	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:60687935C>T	ENST00000335712.6	-	4	2339	c.2112G>A	c.(2110-2112)ggG>ggA	p.G704G	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.G670G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.G373G|BCL11A_ENST00000358510.4_Silent_p.G670G|BCL11A_ENST00000356842.4_Silent_p.G704G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	704					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGTCCAGCTCCCCGGGCGGTG	0.647			T	IGH@	B-CLL								ENSG00000119866																												Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													34.0	41.0	39.0					2																	60687935		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2112G>A	2.37:g.60687935C>T			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G704	ENST00000335712.6	37	c.2112	CCDS1862.1	2																																																																																			-	BCL11A	-	NULL		0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	0	0		39	39		0.00		C	NM_022893		60687935	-1	15		39		tier1	no_errors	ENST00000335712	ensembl	human	known	74_37	silent	27.78		SNP	1.000	T	15	39
RADIL	55698	genome.wustl.edu	37	7	4862080	4862080	+	Silent	SNP	G	G	A	rs370334624		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:4862080G>A	ENST00000399583.3	-	6	1747	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000538469.1_Silent_p.I280I	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	520	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ATTTCTGCTGGATAAAGTACA	0.587													ENSG00000157927																																					0													43.0	50.0	48.0					7																	4862080		1968	4151	6119	SO:0001819	synonymous_variant	0			-	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1560C>T	7.37:g.4862080G>A			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.I520	ENST00000399583.3	37	c.1560	CCDS43544.1	7																																																																																			-	RADIL	-	pfscan_Dilute		0.587	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	0	0		32	32		0.00		G	NM_018059		4862080	-1	16		27		tier1	no_errors	ENST00000399583	ensembl	human	known	74_37	silent	37.21		SNP	0.833	A	16	27
HLA-DRB5	3127	genome.wustl.edu	37	6	32487164	32487164	+	Missense_Mutation	SNP	G	G	A	rs111541713	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32487164G>A	ENST00000374975.3	-	3	697	c.635C>T	c.(634-636)cCt>cTt	p.P212L		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CACTGTGAGAGGGCTCGTCAC	0.493													ENSG00000198502																																					0													71.0	82.0	78.0					6																	32487164		1871	3700	5571	SO:0001583	missense	0			-		CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.635C>T	6.37:g.32487164G>A	ENSP00000364114:p.Pro212Leu			Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.P212L	ENST00000374975.3	37	c.635	CCDS4751.1	6	.	.	.	.	.	.	.	.	.	.	.	10.31	1.316031	0.23908	.	.	ENSG00000198502	ENST00000374975	T	0.18960	2.18	4.36	3.44	0.39384	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.151509	0.64402	D	0.000010	T	0.42539	0.1207	H	0.95260	3.645	0.26034	N	0.981707	D;P	0.76494	0.999;0.77	D;B	0.66602	0.945;0.324	T	0.47849	-0.9085	10	0.87932	D	0	.	11.287	0.49228	0.0:0.0:0.8161:0.1839	.	139;212	Q29973;Q30154	.;DRB5_HUMAN	L	212	ENSP00000364114:P212L	ENSP00000364114:P212L	P	-	2	0	HLA-DRB5	32595142	0.994000	0.37717	0.035000	0.18076	0.115000	0.19883	1.967000	0.40491	1.149000	0.42402	0.556000	0.70494	CCT	rs111541713	HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.493	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	0	0		91	91		0.00		G	NM_002125		32487164	-1	47		79		tier1	no_errors	ENST00000374975	ensembl	human	known	74_37	missense	37.30		SNP	0.118	A	47	79
TNFRSF19	55504	genome.wustl.edu	37	13	24233223	24233223	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:24233223C>T	ENST00000382258.4	+	6	684	c.480C>T	c.(478-480)tcC>tcT	p.S160S	TNFRSF19_ENST00000248484.4_Silent_p.S160S|TNFRSF19_ENST00000403372.2_Silent_p.S28S|TNFRSF19_ENST00000382263.3_Silent_p.S160S	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	160					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGATCGCGTCCACGGCCTCCA	0.587													ENSG00000127863																																					0													66.0	61.0	63.0					13																	24233223		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.480C>T	13.37:g.24233223C>T			A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.S160	ENST00000382258.4	37	c.480	CCDS9302.1	13																																																																																			-	TNFRSF19	-	prints_TNFR_19		0.587	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	0	0		26	26		0.00		C	NM_018647		24233223	+1	4		19		tier1	no_errors	ENST00000382258	ensembl	human	known	74_37	silent	17.39		SNP	1.000	T	4	19
DSPP	1834	genome.wustl.edu	37	4	88533801	88533801	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:88533801A>T	ENST00000282478.7	+	3	496	c.463A>T	c.(463-465)Aat>Tat	p.N155Y	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N155Y			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	155					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGCAACACTAATGGAAATAC	0.443													ENSG00000152591																																					0													113.0	108.0	110.0					4																	88533801		2001	4177	6178	SO:0001583	missense	0			-	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.463A>T	4.37:g.88533801A>T	ENSP00000282478:p.Asn155Tyr		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.N155Y	ENST00000282478.7	37	c.463	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508497	0.27036	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.92446	-3.04;-3.04	4.81	-2.33	0.06724	.	1.919890	0.03319	N	0.191706	D	0.84474	0.5480	N	0.24115	0.695	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.70378	-0.4888	10	0.72032	D	0.01	-0.5427	3.0288	0.06099	0.5732:0.1112:0.2121:0.1035	.	155	Q9NZW4	DSPP_HUMAN	Y	155	ENSP00000382213:N155Y;ENSP00000282478:N155Y	ENSP00000282478:N155Y	N	+	1	0	DSPP	88752825	0.118000	0.22208	0.000000	0.03702	0.000000	0.00434	0.786000	0.26844	-0.575000	0.05982	-1.811000	0.00612	AAT	-	DSPP	-	NULL		0.443	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	0	0		45	45		0.00		A	NM_014208		88533801	+1	22		44		tier1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	33.33		SNP	0.000	T	22	44
C6orf47	57827	genome.wustl.edu	37	6	31628399	31628399	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31628399C>T	ENST00000375911.1	-	0	150				Y_RNA_ENST00000364337.1_RNA|C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47							cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CTAAGATGTCCTCAGAGATCC	0.637													ENSG00000227198																																					0																																										SO:0001623	5_prime_UTR_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.-675G>A	6.37:g.31628399C>T			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	R	SNP	-	NULL	ENST00000375911.1	37	NULL	CCDS34399.1	6																																																																																			-	C6orf47-AS1	-	-		0.637	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf47-AS1	HGNC	protein_coding	OTTHUMT00000076324.1	0	0		27	27		0.00		C	NM_021184		31628399	+1	29		21		tier1	no_errors	ENST00000422049	ensembl	human	known	74_37	rna	58.00		SNP	0.301	T	29	21
OPCML	4978	genome.wustl.edu	37	11	132306560	132306560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:132306560C>A	ENST00000331898.7	-	5	1356	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	OPCML_ENST00000374778.4_Nonsense_Mutation_p.E219*|OPCML_ENST00000524381.1_Nonsense_Mutation_p.E253*|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Nonsense_Mutation_p.E260*	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	260	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TACCTGGTTTCTTCCTTGAAC	0.493													ENSG00000183715																																					0													108.0	96.0	100.0					11																	132306560		2201	4297	6498	SO:0001587	stop_gained	0			-	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.778G>T	11.37:g.132306560C>A	ENSP00000330862:p.Glu260*		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E260*	ENST00000331898.7	37	c.778	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.233488	0.97399	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	.	.	.	5.68	5.68	0.88126	.	0.167769	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1514	19.3953	0.94604	0.0:1.0:0.0:0.0	.	.	.	.	X	260;253;219;227;260	.	ENSP00000330862:E260X	E	-	1	0	OPCML	131811770	1.000000	0.71417	0.995000	0.50966	0.716000	0.41182	7.487000	0.81328	2.671000	0.90904	0.650000	0.86243	GAA	-	OPCML	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.493	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	0	0		63	63		0.00		C	NM_001012393		132306560	-1	32		39		tier1	no_errors	ENST00000541867	ensembl	human	known	74_37	nonsense	45.07		SNP	1.000	A	32	39
MLST8	64223	genome.wustl.edu	37	16	2258589	2258589	+	Silent	SNP	G	G	A	rs372017388		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2258589G>A	ENST00000569417.1	+	8	1191	c.837G>A	c.(835-837)tcG>tcA	p.S279S	MLST8_ENST00000301724.10_Silent_p.S279S|MLST8_ENST00000564088.1_Silent_p.S279S|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000565250.1_Silent_p.S279S|MLST8_ENST00000397124.1_Silent_p.S279S|MLST8_ENST00000382450.4_Silent_p.S278S	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	279					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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						GCGCCTTCTCGGGGGACTCCC	0.697													ENSG00000167965																																					0								G	,,,	0,3938		0,0,1969	52.0	62.0	59.0		837,837,834,837	-9.9	0.8	16		59	1,8285		0,1,4142	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MLST8	NM_001199173.1,NM_001199174.1,NM_001199175.1,NM_022372.4	,,,	0,1,6111	AA,AG,GG		0.0121,0.0,0.0082	,,,	279/327,279/327,278/326,279/327	2258589	1,12223	1969	4143	6112	SO:0001819	synonymous_variant	0			-		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.837G>A	16.37:g.2258589G>A			B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	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.S279	ENST00000569417.1	37	c.837	CCDS10462.2	16																																																																																			-	MLST8	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.697	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLST8	HGNC	protein_coding	OTTHUMT00000250763.2	0	0		18	18		0.00		G	NM_022372		2258589	+1	9		31		tier1	no_errors	ENST00000397124	ensembl	human	known	74_37	silent	22.50		SNP	0.214	A	9	31
MYO16	23026	genome.wustl.edu	37	13	109792910	109792910	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:109792910G>A	ENST00000357550.2	+	31	4325	c.4284G>A	c.(4282-4284)ggG>ggA	p.G1428G	MYO16_ENST00000356711.2_Silent_p.G1428G	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGGACCCCGGGGAGTCCGTGT	0.736													ENSG00000041515																																					0													4.0	4.0	4.0					13																	109792910		1876	3689	5565	SO:0001819	synonymous_variant	0			-		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4284G>A	13.37:g.109792910G>A				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G1428	ENST00000357550.2	37	c.4284	CCDS32008.1	13																																																																																			-	MYO16	-	NULL		0.736	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	0	0		18	18		0.00		G	NM_015011		109792910	+1	5		13		tier1	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	27.78		SNP	0.010	A	5	13
SPTLC1	10558	genome.wustl.edu	37	9	94871067	94871067	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:94871067G>A	ENST00000262554.2	-	3	220	c.215C>T	c.(214-216)cCt>cTt	p.P72L	SPTLC1_ENST00000337841.4_Missense_Mutation_p.P72L|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	72					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTTTGGGACAGGAGGAACAAG	0.383													ENSG00000090054																																					0													25.0	29.0	28.0					9																	94871067		2196	4275	6471	SO:0001583	missense	0			-	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.215C>T	9.37:g.94871067G>A	ENSP00000262554:p.Pro72Leu		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.P72L	ENST00000262554.2	37	c.215	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040833	0.19669	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	T;T	0.67698	-0.28;-0.28	4.85	2.87	0.33458	Pyridoxal phosphate-dependent transferase, major domain (1);	0.052927	0.85682	N	0.000000	T	0.62672	0.2447	M	0.69523	2.12	0.80722	D	1	B;B;B;B	0.18610	0.029;0.007;0.002;0.029	B;B;B;B	0.24269	0.035;0.011;0.008;0.052	T	0.62139	-0.6917	10	0.46703	T	0.11	-16.1976	8.6302	0.33915	0.0832:0.0:0.7665:0.1503	.	72;72;67;72	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	L	72	ENSP00000262554:P72L;ENSP00000337635:P72L	ENSP00000262554:P72L	P	-	2	0	SPTLC1	93910888	0.991000	0.36638	0.955000	0.39395	0.362000	0.29581	1.634000	0.37123	1.179000	0.42884	-0.232000	0.12228	CCT	-	SPTLC1	-	superfamily_PyrdxlP-dep_Trfase		0.383	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	0	0		66	66		0.00		G	NM_006415		94871067	-1	29		41		tier1	no_errors	ENST00000262554	ensembl	human	known	74_37	missense	41.43		SNP	0.991	A	29	41
CTPS1	1503	genome.wustl.edu	37	1	41475838	41475838	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:41475838C>T	ENST00000372621.4	+	18	2205	c.1697C>T	c.(1696-1698)aCc>aTc	p.T566I	CTPS1_ENST00000372616.1_Missense_Mutation_p.T566I|CTPS1_ENST00000541520.1_Missense_Mutation_p.T335I	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TACAGGGACACCTATAGTGAC	0.453													ENSG00000171793																																					0													122.0	114.0	117.0					1																	41475838		2203	4300	6503	SO:0001583	missense	0			-	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1697C>T	1.37:g.41475838C>T	ENSP00000361704:p.Thr566Ile			Missense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase	p.T566I	ENST00000372621.4	37	c.1697	CCDS459.1	1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687191	0.48097	.	.	ENSG00000171793	ENST00000372621;ENST00000541520;ENST00000372616	T;T;T	0.42513	0.98;0.97;0.98	5.29	5.29	0.74685	.	0.047560	0.85682	D	0.000000	T	0.25269	0.0614	N	0.08118	0	0.80722	D	1	B;B	0.31680	0.335;0.19	B;B	0.30495	0.116;0.07	T	0.09885	-1.0654	10	0.25106	T	0.35	.	16.4387	0.83894	0.0:1.0:0.0:0.0	.	335;566	B4DR64;P17812	.;PYRG1_HUMAN	I	566;335;566	ENSP00000361704:T566I;ENSP00000442646:T335I;ENSP00000361699:T566I	ENSP00000361699:T566I	T	+	2	0	CTPS	41248425	1.000000	0.71417	0.986000	0.45419	0.781000	0.44180	5.508000	0.67006	2.462000	0.83206	0.655000	0.94253	ACC	-	CTPS1	-	NULL		0.453	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	HGNC	protein_coding	OTTHUMT00000015629.1	0	0		93	93		0.00		C	NM_001905		41475838	+1	44		92		tier1	no_errors	ENST00000372616	ensembl	human	known	74_37	missense	32.35		SNP	1.000	T	44	92
TRIM42	287015	genome.wustl.edu	37	3	140401662	140401662	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140401662G>A	ENST00000286349.3	+	2	891	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	234						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G234R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCTCCTCCGGGCCCATCCT	0.617													ENSG00000155890																																					1	Substitution - Missense(1)	skin(1)											73.0	72.0	72.0					3																	140401662		2203	4300	6503	SO:0001583	missense	0			-	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.700G>A	3.37:g.140401662G>A	ENSP00000286349:p.Gly234Arg		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.G234R	ENST00000286349.3	37	c.700	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	6.073	0.381788	0.11524	.	.	ENSG00000155890	ENST00000286349	T	0.39056	1.1	5.2	4.12	0.48240	.	0.206985	0.34178	N	0.004196	T	0.24005	0.0581	L	0.27053	0.805	0.26770	N	0.969816	B	0.25719	0.132	B	0.17722	0.019	T	0.12760	-1.0535	10	0.08599	T	0.76	-33.3162	9.5496	0.39301	0.1127:0.0:0.8873:0.0	.	234	Q8IWZ5	TRI42_HUMAN	R	234	ENSP00000286349:G234R	ENSP00000286349:G234R	G	+	1	0	TRIM42	141884352	0.962000	0.33011	0.937000	0.37676	0.942000	0.58702	1.961000	0.40432	2.435000	0.82474	0.561000	0.74099	GGG	-	TRIM42	-	smart_Znf_B-box		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	0	0		67	67		0.00		G	NM_152616		140401662	+1	35		87		tier1	no_errors	ENST00000286349	ensembl	human	known	74_37	missense	28.69		SNP	0.488	A	35	87
TRIM43	129868	genome.wustl.edu	37	2	96259841	96259841	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:96259841G>A	ENST00000272395.2	+	2	206	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	24						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTACCTGGTAGACCCTGTCAC	0.512													ENSG00000144015																																					0													99.0	98.0	99.0					2																	96259841		2201	4298	6499	SO:0001583	missense	0			-	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.70G>A	2.37:g.96259841G>A	ENSP00000272395:p.Asp24Asn		Q53TJ7	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D24N	ENST00000272395.2	37	c.70	CCDS2015.1	2	.	.	.	.	.	.	.	.	.	.	.	13.25	2.181171	0.38511	.	.	ENSG00000144015	ENST00000272395	T	0.21361	2.01	1.4	1.4	0.22301	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.36358	0.0964	L	0.49126	1.545	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06789	-1.0807	9	0.62326	D	0.03	-16.669	8.855	0.35223	0.0:0.0:1.0:0.0	.	24	Q96BQ3	TRI43_HUMAN	N	24	ENSP00000272395:D24N	ENSP00000272395:D24N	D	+	1	0	TRIM43	95623568	0.247000	0.23920	0.028000	0.17463	0.066000	0.16364	1.264000	0.33015	1.114000	0.41781	0.375000	0.23000	GAC	-	TRIM43	-	smart_Znf_RING,pfscan_Znf_RING		0.512	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	0	0		75	75		0.00		G	NM_138800		96259841	+1	16		101		tier1	no_errors	ENST00000272395	ensembl	human	known	74_37	missense	13.68		SNP	0.063	A	16	101
PXDC1	221749	genome.wustl.edu	37	6	3739153	3739153	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:3739153G>A	ENST00000380283.4	-	2	751				PXDC1_ENST00000477592.2_Intron	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1								phosphatidylinositol binding (GO:0035091)										GGTGCCCAAGGACACTGGCGT	0.532													ENSG00000168994																																					0																																										SO:0001627	intron_variant	0			-	AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.257-771C>T	6.37:g.3739153G>A			A8K0N3|Q6PGP0|Q86XB7	R	SNP	-	NULL	ENST00000380283.4	37	NULL	CCDS4486.1	6																																																																																			-	PXDC1	-	-		0.532	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDC1	HGNC	protein_coding	OTTHUMT00000039688.1	0	0		44	44		0.00		G	NM_183373		3739153	-1	17		39		tier1	no_errors	ENST00000485986	ensembl	human	known	74_37	rna	30.36		SNP	0.000	A	17	39
LOXHD1	125336	genome.wustl.edu	37	18	44113129	44113129	+	Silent	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:44113129C>A	ENST00000398722.4	-	21	3536	c.3537G>T	c.(3535-3537)ctG>ctT	p.L1179L	LOXHD1_ENST00000536736.1_Silent_p.L1457L|LOXHD1_ENST00000441551.2_Silent_p.L1251L|LOXHD1_ENST00000441893.2_Silent_p.L390L|LOXHD1_ENST00000582408.1_Silent_p.L346L|LOXHD1_ENST00000300591.6_Silent_p.L346L|LOXHD1_ENST00000579038.1_Silent_p.L250L			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1179					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						ACTTACTGTCCAGAGGCTCTT	0.517													ENSG00000167210																																					0													155.0	125.0	134.0					18																	44113129		692	1591	2283	SO:0001819	synonymous_variant	0			-	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.3537G>T	18.37:g.44113129C>A			B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom	p.L1457	ENST00000398722.4	37	c.4371		18																																																																																			-	LOXHD1	-	superfamily_Lipase_LipOase		0.517	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		0	0		50	50		0.00		C	NM_144612		44113129	-1	4		43		tier1	no_errors	ENST00000536736	ensembl	human	known	74_37	silent	8.51		SNP	1.000	A	4	43
CDKL4	344387	genome.wustl.edu	37	2	39414784	39414784	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:39414784G>A	ENST00000395035.3	-	6	718	c.719C>T	c.(718-720)cCt>cTt	p.P240L	CDKL4_ENST00000378803.1_Missense_Mutation_p.P240L			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TTCTGGCTCAGGTATACTGAT	0.308													ENSG00000205111																																					0													96.0	103.0	101.0					2																	39414784		2203	4300	6503	SO:0001583	missense	0			-		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.719C>T	2.37:g.39414784G>A	ENSP00000378476:p.Pro240Leu		Q2NME9	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.P240L	ENST00000395035.3	37	c.719		2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466257	0.84425	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.39787	2.95;1.06;1.06	5.15	5.15	0.70609	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	0.53938	D	0.000052	T	0.65037	0.2653	M	0.73598	2.24	0.80722	D	1	D;P	0.89917	1.0;0.845	D;P	0.79784	0.993;0.802	T	0.68949	-0.5274	10	0.72032	D	0.01	-19.6557	16.1422	0.81534	0.0:0.0:1.0:0.0	.	240;240	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	L	22;240;240	ENSP00000389833:P22L;ENSP00000368080:P240L;ENSP00000378476:P240L	ENSP00000368080:P240L	P	-	2	0	CDKL4	39268288	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.935000	0.87658	2.415000	0.81967	0.555000	0.69702	CCT	-	CDKL4	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.308	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	CDKL4	HGNC	protein_coding	OTTHUMT00000331655.1	0	0		84	84		0.00		G	XM_293029		39414784	-1	40		44		tier1	no_errors	ENST00000378803	ensembl	human	known	74_37	missense	47.62		SNP	1.000	A	40	44
CXCR6	10663	genome.wustl.edu	37	3	45988820	45988820	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:45988820C>T	ENST00000458629.1	+	1	2310	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	CXCR6_ENST00000304552.4_Missense_Mutation_p.L283F|CXCR6_ENST00000438735.1_Missense_Mutation_p.L283F|CXCR6_ENST00000457814.1_Missense_Mutation_p.L283F|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	283					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGGGCCTGCCTTAACCCTGT	0.502													ENSG00000172215																									Esophageal Squamous(63;1005 1117 15521 45762 47089)												0													120.0	102.0	108.0					3																	45988820		2203	4300	6503	SO:0001583	missense	0			-	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.847C>T	3.37:g.45988820C>T	ENSP00000395704:p.Leu283Phe		O00575|Q9HCA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.L283F	ENST00000458629.1	37	c.847	CCDS2735.1	3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158794	0.78226	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.059660	0.64402	D	0.000002	T	0.66056	0.2751	M	0.82923	2.615	0.47037	D	0.999299	D	0.57899	0.981	P	0.56514	0.8	T	0.70579	-0.4833	10	0.87932	D	0	.	14.0786	0.64905	0.1507:0.8493:0.0:0.0	.	283	O00574	CXCR6_HUMAN	F	283	ENSP00000396218:L283F;ENSP00000304414:L283F;ENSP00000395704:L283F;ENSP00000396886:L283F	ENSP00000304414:L283F	L	+	1	0	CXCR6	45963824	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	1.276000	0.33156	2.832000	0.97577	0.655000	0.94253	CTT	-	CXCR6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CXCR6	HGNC	protein_coding	OTTHUMT00000344395.1	0	0		59	59		0.00		C			45988820	+1	14		48		tier1	no_errors	ENST00000304552	ensembl	human	known	74_37	missense	22.58		SNP	1.000	T	14	48
PYCR1	5831	genome.wustl.edu	37	17	79891160	79891160	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79891160C>T	ENST00000329875.8	-	7	954	c.890G>A	c.(889-891)gGg>gAg	p.G297E	PYCR1_ENST00000337943.5_Intron|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Missense_Mutation_p.G324E|PYCR1_ENST00000577756.1_3'UTR|MAFG-AS1_ENST00000583492.1_RNA|MAFG-AS1_ENST00000582106.1_RNA|PYCR1_ENST00000403172.4_Missense_Mutation_p.G266E	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	297			G -> R. {ECO:0000269|PubMed:22052856}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CAGAGCGGTCCCTGCAGGGGA	0.637													ENSG00000183010																																					0													112.0	106.0	108.0					17																	79891160		2202	4299	6501	SO:0001583	missense	0			-		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.890G>A	17.37:g.79891160C>T	ENSP00000328858:p.Gly297Glu		A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	pfam_G3P_DH_D-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.G297E	ENST00000329875.8	37	c.890	CCDS11795.1	17	.	.	.	.	.	.	.	.	.	.	C	8.254	0.809667	0.16537	.	.	ENSG00000183010	ENST00000329875;ENST00000402252	T;T	0.73789	-0.75;-0.78	3.61	-3.47	0.04753	.	0.424106	0.22940	N	0.053793	T	0.45337	0.1337	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.27640	-1.0068	10	0.66056	D	0.02	.	4.25	0.10689	0.2682:0.2515:0.0:0.4804	.	324;297;297	B4DMU0;E7D7X9;P32322	.;.;P5CR1_HUMAN	E	297;324	ENSP00000328858:G297E;ENSP00000384949:G324E	ENSP00000328858:G297E	G	-	2	0	PYCR1	77484451	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.070000	0.11523	-0.396000	0.07703	-0.345000	0.07892	GGG	-	PYCR1	-	NULL		0.637	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR1	HGNC	protein_coding	OTTHUMT00000441953.1	0	0		28	28		0.00		C			79891160	-1	10		32		tier1	no_errors	ENST00000329875	ensembl	human	known	74_37	missense	23.81		SNP	0.000	T	10	32
CCDC171	203238	genome.wustl.edu	37	9	15846728	15846728	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:15846728G>A	ENST00000380701.3	+	22	3624	c.3296G>A	c.(3295-3297)aGa>aAa	p.R1099K	CCDC171_ENST00000297641.3_Missense_Mutation_p.R1099K	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1099																	ATGGAGCTGAGAAGAAAAGAT	0.463													ENSG00000164989																																					0													84.0	77.0	79.0					9																	15846728		2203	4300	6503	SO:0001583	missense	0			-	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3296G>A	9.37:g.15846728G>A	ENSP00000370077:p.Arg1099Lys		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.R1099K	ENST00000380701.3	37	c.3296	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.576810|4.576810	0.86645|0.86645	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575;ENST00000432954|ENST00000297641;ENST00000380689;ENST00000380701	.|T;T	.|0.68479	.|-0.33;-0.33	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.143817	.|0.64402	.|D	.|0.000007	T|T	0.67618|0.67618	0.2912|0.2912	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.58620	.|0.983;0.972;0.983	.|P;P;P	.|0.55391	.|0.775;0.6;0.775	T|T	0.63143|0.63143	-0.6703|-0.6703	5|10	.|0.25751	.|T	.|0.34	-14.892|-14.892	20.1064|20.1064	0.97896|0.97896	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1107;366;1099	.|B7ZM22;A6NK04;Q6TFL3	.|.;.;CI093_HUMAN	K|K	339;153|1099;366;1099	.|ENSP00000297641:R1099K;ENSP00000370077:R1099K	.|ENSP00000297641:R1099K	E|R	+|+	1|2	0|0	C9orf93|C9orf93	15836728|15836728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	6.319000|6.319000	0.72871|0.72871	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	GAA|AGA	-	CCDC171	-	NULL		0.463	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	0	0		28	28		0.00		G	NM_173550		15846728	+1	19		14		tier1	no_errors	ENST00000380701	ensembl	human	known	74_37	missense	57.58		SNP	1.000	A	19	14
COLGALT2	23127	genome.wustl.edu	37	1	183914611	183914611	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:183914611C>T	ENST00000361927.4	-	9	1595	c.1224G>A	c.(1222-1224)agG>agA	p.R408R	COLGALT2_ENST00000546159.1_Silent_p.R408R|COLGALT2_ENST00000367520.3_Silent_p.R145R|COLGALT2_ENST00000367521.1_Silent_p.R16R	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	408					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CGATTTCACCCCTTGTTAGAG	0.458													ENSG00000198756																																					0													140.0	137.0	138.0					1																	183914611		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1224G>A	1.37:g.183914611C>T			O60327|Q9BZR0	Silent	SNP	pfam_Glyco_trans_25	p.R408	ENST00000361927.4	37	c.1224	CCDS1360.1	1																																																																																			-	COLGALT2	-	pfam_Glyco_trans_25		0.458	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT2	HGNC	protein_coding	OTTHUMT00000086128.1	0	0		70	70		0.00		C	NM_015101		183914611	-1	39		58		tier1	no_errors	ENST00000361927	ensembl	human	known	74_37	silent	40.21		SNP	0.890	T	39	58
EGFEM1P	93556	genome.wustl.edu	37	3	168546942	168546942	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:168546942C>T	ENST00000483846.1	+	0	882					NR_021485.2		Q0D2K5	EGFEM_HUMAN	EGF-like and EMI domain containing 1, pseudogene																		ATGTCAGCTCCCACAGAGAAG	0.473													ENSG00000206120																																					0																																												0			-	AF086185		3q26.2	2010-09-24	2010-09-24	2010-09-24	ENSG00000206120	ENSG00000206120			25149	pseudogene	pseudogene			"""chromosome 3 open reading frame 50"", ""non-protein coding RNA 259"""	C3orf50, NCRNA00259		12477932	Standard	NR_021485		Approved		uc003ffh.4	Q0D2K5	OTTHUMG00000154721		3.37:g.168546942C>T				R	SNP	-	NULL	ENST00000483846.1	37	NULL		3																																																																																			-	EGFEM1P	-	-		0.473	EGFEM1P-007	KNOWN	basic	processed_transcript	EGFEM1P	HGNC	pseudogene	OTTHUMT00000351389.1	0	0		57	57		0.00		C	NR_021485		168546942	+1	42		67		tier1	no_errors	ENST00000382864	ensembl	human	known	74_37	rna	38.18		SNP	1.000	T	42	67
C9orf131	138724	genome.wustl.edu	37	9	35044479	35044479	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:35044479G>A	ENST00000312292.5	+	2	1900	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.G545E|C9orf131_ENST00000421362.2_Missense_Mutation_p.G570E	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	618										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCCCTCTGGGAGTCTTGTCT	0.498													ENSG00000174038																																					0													112.0	114.0	113.0					9																	35044479		2203	4300	6503	SO:0001583	missense	0			-	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1853G>A	9.37:g.35044479G>A	ENSP00000308279:p.Gly618Glu		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.G618E	ENST00000312292.5	37	c.1853	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825085	0.32237	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.13538	2.58;2.58;2.58	4.37	4.37	0.52481	.	0.782041	0.10872	N	0.624829	T	0.26593	0.0650	L	0.44542	1.39	0.21220	N	0.999752	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.63192	0.912;0.912;0.912;0.912	T	0.09422	-1.0675	10	0.33141	T	0.24	0.1925	12.5941	0.56459	0.0:0.0:1.0:0.0	.	93;618;545;570	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	E	570;545;618;93	ENSP00000393683:G570E;ENSP00000346472:G545E;ENSP00000308279:G618E	ENSP00000308279:G618E	G	+	2	0	C9orf131	35034479	0.303000	0.24463	0.123000	0.21794	0.108000	0.19459	0.835000	0.27531	2.410000	0.81850	0.655000	0.94253	GGA	-	C9orf131	-	NULL		0.498	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	0	0		30	30		0.00		G	NM_203299		35044479	+1	15		28		tier1	no_errors	ENST00000312292	ensembl	human	known	74_37	missense	34.88		SNP	0.275	A	15	28
HMHA1	23526	genome.wustl.edu	37	19	1083180	1083180	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1083180G>A	ENST00000313093.2	+	21	3014	c.2783G>A	c.(2782-2784)gGg>gAg	p.G928E	HMHA1_ENST00000536472.1_Missense_Mutation_p.G796E|HMHA1_ENST00000590214.1_Missense_Mutation_p.G955E|HMHA1_ENST00000586866.1_Missense_Mutation_p.G932E|HMHA1_ENST00000591169.1_Intron|HMHA1_ENST00000590577.1_Missense_Mutation_p.G563E|HMHA1_ENST00000543365.1_Missense_Mutation_p.G811E|HMHA1_ENST00000539243.2_Missense_Mutation_p.G944E	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	928	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)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGACCCCCGGGAACCTGGGC	0.701													ENSG00000180448																																					0													44.0	35.0	38.0					19																	1083180		2201	4299	6500	SO:0001583	missense	0			-	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2783G>A	19.37:g.1083180G>A	ENSP00000316772:p.Gly928Glu		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G928E	ENST00000313093.2	37	c.2783	CCDS32863.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.948872|3.948872	0.73787|0.73787	.|.	.|.	ENSG00000180448|ENSG00000180448	ENST00000544746|ENST00000539243;ENST00000313093;ENST00000536472;ENST00000412039;ENST00000543365	.|T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33	4.22|4.22	3.13|3.13	0.36017|0.36017	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.108848	.|0.64402	.|D	.|0.000008	.|T	.|0.17662	.|0.0424	N|N	0.04132|0.04132	-0.27|-0.27	0.36379|0.36379	D|D	0.861783|0.861783	.|D;D;D;D;D;D	.|0.76494	.|0.999;0.999;0.998;0.974;0.998;0.998	.|D;D;D;P;P;D	.|0.72338	.|0.977;0.964;0.94;0.908;0.9;0.962	.|T	.|0.26503	.|-1.0101	.|10	.|0.25106	.|T	.|0.35	.|-30.2846	12.6145|12.6145	0.56569|0.56569	0.0:0.1685:0.8315:0.0|0.0:0.1685:0.8315:0.0	.|.	.|796;944;810;563;811;928	.|F5H4A3;F6QP70;B3KXW7;B3KVA9;F5H1R4;Q92619	.|.;.;.;.;.;HMHA1_HUMAN	.|E	-1|944;928;796;922;811	.|ENSP00000439601:G944E;ENSP00000316772:G928E;ENSP00000445109:G796E;ENSP00000438979:G811E	.|ENSP00000316772:G928E	.|G	+|+	.|2	.|0	HMHA1|HMHA1	1034180|1034180	1.000000|1.000000	0.71417|0.71417	0.740000|0.740000	0.30986|0.30986	0.951000|0.951000	0.60555|0.60555	4.449000|4.449000	0.60034|0.60034	0.715000|0.715000	0.32103|0.32103	0.491000|0.491000	0.48974|0.48974	.|GGG	-	HMHA1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.701	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	0	0		27	27		0.00		G			1083180	+1	12		41		tier1	no_errors	ENST00000313093	ensembl	human	known	74_37	missense	22.64		SNP	0.995	A	12	41
NEB	4703	genome.wustl.edu	37	2	152521285	152521285	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152521285G>A	ENST00000172853.10	-	43	5478	c.5331C>T	c.(5329-5331)atC>atT	p.I1777I	NEB_ENST00000604864.1_Silent_p.I1777I|NEB_ENST00000603639.1_Silent_p.I1777I|NEB_ENST00000427231.2_Silent_p.I1777I|NEB_ENST00000409198.1_Silent_p.I1777I|NEB_ENST00000397345.3_Silent_p.I1777I			P20929	NEBU_HUMAN	nebulin	1777					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTCATGGTGATTTGGTTTA	0.418													ENSG00000183091																																					0													115.0	101.0	105.0					2																	152521285		1893	4121	6014	SO:0001819	synonymous_variant	0			-	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5331C>T	2.37:g.152521285G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.I1777	ENST00000172853.10	37	c.5331		2																																																																																			-	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		0	0		79	79		0.00		G	NM_004543		152521285	-1	39		50		tier1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	43.82		SNP	0.564	A	39	50
ZFHX2	85446	genome.wustl.edu	37	14	23992575	23992575	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23992575G>A	ENST00000419474.3	-	9	6931	c.6576C>T	c.(6574-6576)gcC>gcT	p.A2192A	ZFHX2_ENST00000606808.1_5'Flank|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	2192					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						CAGGTGCTGGGGCCAAGTCGT	0.662													ENSG00000136367																																					0																																										SO:0001819	synonymous_variant	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.6576C>T	14.37:g.23992575G>A			Q9UPU6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A2192	ENST00000419474.3	37	c.6576	CCDS55907.1	14																																																																																			-	ZFHX2	-	NULL		0.662	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	0	0		73	73		0.00		G	NM_014894		23992575	-1	44		27		tier1	no_errors	ENST00000419474	ensembl	human	known	74_37	silent	61.97		SNP	0.982	A	44	27
DNAH5	1767	genome.wustl.edu	37	5	13753556	13753556	+	Missense_Mutation	SNP	C	C	T	rs144393366		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:13753556C>T	ENST00000265104.4	-	63	10762	c.10658G>A	c.(10657-10659)cGg>cAg	p.R3553Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3553					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)					TGGAATTTTCCGGGCTTTCAT	0.403									Kartagener syndrome				ENSG00000039139																																					0								C	GLN/ARG	0,4406		0,0,2203	121.0	122.0	122.0		10658	5.8	1.0	5	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNAH5	NM_001369.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	3553/4625	13753556	2,13004	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.10658G>A	5.37:g.13753556C>T	ENSP00000265104:p.Arg3553Gln		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.R3553Q	ENST00000265104.4	37	c.10658	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502378	0.85176	0.0	2.33E-4	ENSG00000039139	ENST00000265104	T	0.56444	0.46	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.62209	1.925	0.80722	D	1	P	0.44090	0.826	B	0.32090	0.14	T	0.55730	-0.8095	10	0.44086	T	0.13	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	3553	Q8TE73	DYH5_HUMAN	Q	3553	ENSP00000265104:R3553Q	ENSP00000265104:R3553Q	R	-	2	0	DNAH5	13806556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.703000	0.68340	2.885000	0.99019	0.655000	0.94253	CGG	rs144393366	DH5	-	NULL		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH5	HGNC	protein_coding	OTTHUMT00000207057.2	0	0		58	58		0.00		C	NM_001369		13753556	-1	30		54		tier1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	35.71		SNP	1.000	T	30	54
RP1-127L4.7	0	genome.wustl.edu	37	22	32539245	32539245	+	lincRNA	SNP	T	T	C	rs576043959	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32539245T>C	ENST00000436294.1	+	0	260																											CCAAGGCTCCTCGTGGGATTC	0.493													ENSG00000239674	t|||	2	0.000399361	0.0	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.002																0																																												0			-																													22.37:g.32539245T>C				R	SNP	-	NULL	ENST00000436294.1	37	NULL		22																																																																																			-	RP1-127L4.7	-	-		0.493	RP1-127L4.7-001	KNOWN	basic	lincRNA	ENSG00000239674	Clone_based_vega_gene	lincRNA	OTTHUMT00000156190.1	0	0		9	9		0.00		T			32539245	+1	4		4		tier1	no_errors	ENST00000436294	ensembl	human	known	74_37	rna	50.00		SNP	0.001	C	4	4
BIN3	55909	genome.wustl.edu	37	8	22481521	22481521	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:22481521G>A	ENST00000276416.6	-	8	590	c.522C>T	c.(520-522)gcC>gcT	p.A174A	BIN3_ENST00000399977.4_Silent_p.A126A|BIN3_ENST00000519513.1_Silent_p.A120A|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	174	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCCTGTTCTTGGCTTCAAAGT	0.612													ENSG00000147439																																					0													30.0	36.0	34.0					8																	22481521		2009	4158	6167	SO:0001819	synonymous_variant	0			-		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.522C>T	8.37:g.22481521G>A			Q9BVG2|Q9NVY9	Silent	SNP	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom	p.A174	ENST00000276416.6	37	c.522	CCDS47825.1	8																																																																																			-	BIN3	-	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom		0.612	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	HGNC	protein_coding	OTTHUMT00000375895.1	0	0		28	28		0.00		G			22481521	-1	10		33		tier1	no_errors	ENST00000276416	ensembl	human	known	74_37	silent	23.26		SNP	0.999	A	10	33
KIF21B	23046	genome.wustl.edu	37	1	200959146	200959146	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:200959146G>A	ENST00000422435.2	-	21	3372	c.3056C>T	c.(3055-3057)tCc>tTc	p.S1019F	KIF21B_ENST00000332129.2_Missense_Mutation_p.S1019F|KIF21B_ENST00000360529.5_Missense_Mutation_p.S1019F|KIF21B_ENST00000461742.2_Missense_Mutation_p.S1019F	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1019					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGACCACGGATGTGTCTGT	0.632													ENSG00000116852																																					0													69.0	64.0	65.0					1																	200959146		2203	4300	6503	SO:0001583	missense	0			-	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3056C>T	1.37:g.200959146G>A	ENSP00000411831:p.Ser1019Phe		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.S1019F	ENST00000422435.2	37	c.3056	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378812	0.61735	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.92	4.92	0.64577	Prefoldin (1);	0.000000	0.64402	D	0.000001	D	0.91663	0.7365	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.83275	0.991;0.996;0.991;0.996	D	0.92592	0.6084	10	0.72032	D	0.01	.	18.1472	0.89661	0.0:0.0:1.0:0.0	.	1019;1019;1019;1019	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	F	1019	ENSP00000328494:S1019F;ENSP00000353724:S1019F;ENSP00000433808:S1019F;ENSP00000411831:S1019F	ENSP00000328494:S1019F	S	-	2	0	KIF21B	199225769	1.000000	0.71417	0.063000	0.19743	0.484000	0.33280	5.704000	0.68347	2.280000	0.76307	0.655000	0.94253	TCC	-	KIF21B	-	superfamily_Prefoldin		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	0	0		24	24		0.00		G	XM_371332		200959146	-1	6		37		tier1	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	13.33		SNP	0.855	A	6	37
AHNAK	79026	genome.wustl.edu	37	11	62287631	62287631	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62287631G>A	ENST00000378024.4	-	5	14532	c.14258C>T	c.(14257-14259)cCa>cTa	p.P4753L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4753					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAGCTTCTGGGCCCTTGAG	0.507													ENSG00000124942																																					0													169.0	161.0	164.0					11																	62287631		2202	4299	6501	SO:0001583	missense	0			-	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14258C>T	11.37:g.62287631G>A	ENSP00000367263:p.Pro4753Leu		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P4753L	ENST00000378024.4	37	c.14258	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954617	0.53293	.	.	ENSG00000124942	ENST00000378024	T	0.05717	3.4	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.42040	0.1185	H	0.97806	4.08	0.50632	D	0.999881	D	0.89917	1.0	D	0.97110	1.0	T	0.65413	-0.6174	10	0.59425	D	0.04	-9.6623	17.4612	0.87620	0.0:0.0:1.0:0.0	.	4753	Q09666	AHNK_HUMAN	L	4753	ENSP00000367263:P4753L	ENSP00000367263:P4753L	P	-	2	0	AHNAK	62044207	0.001000	0.12720	0.457000	0.27056	0.772000	0.43724	0.617000	0.24359	2.206000	0.71126	0.478000	0.44815	CCA	-	AHK	-	NULL		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHK	HGNC	protein_coding	OTTHUMT00000395572.1	0	0		153	153		0.00		G	NM_024060		62287631	-1	63		119		tier1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	34.43		SNP	0.942	A	63	119
ECE2	9718	genome.wustl.edu	37	3	183994374	183994374	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183994374C>T	ENST00000402825.3	+	3	480				ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.P49S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_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)			GGGGGCTTCCCCTTTCTCACC	0.687													ENSG00000145194																																					0													17.0	20.0	19.0					3																	183994374		1966	4131	6097	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.481-306C>T	3.37:g.183994374C>T			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.P49S	ENST00000402825.3	37	c.145	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315474	0.40996	.	.	ENSG00000145194	ENST00000357474	T	0.81415	-1.49	2.56	2.56	0.30785	.	1.045000	0.07803	U	0.956839	T	0.63792	0.2541	N	0.08118	0	0.09310	N	1	B;B	0.31655	0.334;0.093	B;B	0.31869	0.137;0.094	T	0.52155	-0.8613	9	.	.	.	.	10.7758	0.46348	0.0:1.0:0.0:0.0	.	49;49	B7Z1P1;O60344-5	.;.	S	49	ENSP00000350066:P49S	.	P	+	1	0	ECE2	185477068	0.001000	0.12720	0.006000	0.13384	0.848000	0.48234	1.014000	0.29950	1.762000	0.52044	0.462000	0.41574	CCT	-	ECE2	-	NULL		0.687	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	0	0		27	27		0.00		C	NM_014693		183994374	+1	21		38		tier1	no_errors	ENST00000357474	ensembl	human	novel	74_37	missense	35.59		SNP	0.072	T	21	38
SH2D7	646892	genome.wustl.edu	37	15	78390434	78390434	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:78390434C>T	ENST00000328828.5	+	3	430	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	SH2D7_ENST00000409568.2_Missense_Mutation_p.R8W	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	144										endometrium(2)|kidney(2)|lung(3)	7						TGCCTGCCCCCGGGTAGGCGC	0.617													ENSG00000183476																																					0													21.0	23.0	23.0					15																	78390434		2015	4163	6178	SO:0001583	missense	0			-		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.430C>T	15.37:g.78390434C>T	ENSP00000327846:p.Arg144Trp			Missense_Mutation	SNP	NULL	p.R8W	ENST00000328828.5	37	c.22	CCDS45315.1	15	.	.	.	.	.	.	.	.	.	.	c	16.18	3.050293	0.55218	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.58506	0.33;0.77	4.58	2.62	0.31277	SH2 motif (1);	.	.	.	.	T	0.60392	0.2265	L	0.32530	0.975	0.53005	D	0.999965	D	0.89917	1.0	D	0.76575	0.988	T	0.60362	-0.7278	9	0.87932	D	0	-3.7551	5.796	0.18387	0.3333:0.5718:0.0:0.0949	.	144	A6NKC9	SH2D7_HUMAN	W	8;144	ENSP00000386676:R8W;ENSP00000327846:R144W	ENSP00000327846:R144W	R	+	1	2	SH2D7	76177489	0.375000	0.25089	1.000000	0.80357	0.703000	0.40648	0.649000	0.24843	0.901000	0.36495	-0.333000	0.08304	CGG	-	SH2D7	-	NULL		0.617	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	0	0		8	8		0.00		C	NM_001101404		78390434	+1	8		4		tier1	no_errors	ENST00000409568	ensembl	human	putative	74_37	missense	66.67		SNP	0.999	T	8	4
CTNNA2	1496	genome.wustl.edu	37	2	80783008	80783008	+	Silent	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:80783008T>A	ENST00000402739.4	+	11	1736	c.1731T>A	c.(1729-1731)ctT>ctA	p.L577L	CTNNA2_ENST00000540488.1_Silent_p.L577L|CTNNA2_ENST00000466387.1_Silent_p.L577L|CTNNA2_ENST00000541047.1_Silent_p.L577L|CTNNA2_ENST00000361291.4_Silent_p.L611L|CTNNA2_ENST00000343114.3_Silent_p.L256L|CTNNA2_ENST00000496558.1_Silent_p.L577L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	577					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAAATTGCTTTCTGAAACAG	0.423													ENSG00000066032																																					0													133.0	125.0	127.0					2																	80783008		1879	4119	5998	SO:0001819	synonymous_variant	0			-		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1731T>A	2.37:g.80783008T>A			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.L611	ENST00000402739.4	37	c.1833		2																																																																																			-	CTN2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.423	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTN2	HGNC	protein_coding	OTTHUMT00000328511.4	0	0		36	36		0.00		T	NM_004389		80783008	+1	16		25		tier1	no_errors	ENST00000361291	ensembl	human	known	74_37	silent	39.02		SNP	0.907	A	16	25
FAM160A2	84067	genome.wustl.edu	37	11	6232677	6232677	+	3'UTR	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6232677A>T	ENST00000449352.2	-	0	3241				FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_3'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2						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						CATAAAAAGGAGCCTGTGCCC	0.468													ENSG00000051009																																					0																																										SO:0001624	3_prime_UTR_variant	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.*59T>A	11.37:g.6232677A>T			Q9C0A4|Q9H0N3|Q9H624	R	SNP	-	NULL	ENST00000449352.2	37	NULL	CCDS44530.1	11																																																																																			-	FAM160A2	-	-		0.468	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	0	0		63	63		0.00		A	NM_032127		6232677	-1	17		32		tier1	no_errors	ENST00000529360	ensembl	human	putative	74_37	rna	34.69		SNP	1.000	T	17	32
CACNA1B	774	genome.wustl.edu	37	9	140786440	140786440	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:140786440G>A	ENST00000371372.1	+	3	675				CACNA1B_ENST00000371357.1_Intron|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000277549.5_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGCCTGGTGAAAAGGGCCT	0.627													ENSG00000203987																																					0																																										SO:0001627	intron_variant	0			-	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.530+9105G>A	9.37:g.140786440G>A			B1AQK5	R	SNP	-	NULL	ENST00000371372.1	37	NULL	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	3.363	-0.129963	0.06753	.	.	ENSG00000203987	ENST00000371390	.	.	.	0.606	-0.853	0.10709	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39583	-0.9607	4	0.87932	D	0	.	.	.	.	.	.	.	.	L	144	.	ENSP00000360443:S144L	S	-	2	0	AL772363.1	139906261	0.005000	0.15991	0.000000	0.03702	0.035000	0.12851	1.432000	0.34936	-0.368000	0.08040	0.400000	0.26472	TCA	-	RP11-188C12.3	-	-		0.627	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	LOC100133077	Clone_based_vega_gene	protein_coding	OTTHUMT00000055380.1	0	0		54	54		0.00		G	NM_000718		140786440	-1	22		37		tier1	no_errors	ENST00000371390	ensembl	human	known	74_37	rna	37.29		SNP	0.000	A	22	37
RIMS2	9699	genome.wustl.edu	37	8	105263957	105263957	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:105263957C>T	ENST00000436393.2	+	28	4254	c.4013C>T	c.(4012-4014)tCc>tTc	p.S1338F	RIMS2_ENST00000339750.2_Missense_Mutation_p.S256F|RIMS2_ENST00000406091.3_Missense_Mutation_p.S1320F|RIMS2_ENST00000262231.10_Missense_Mutation_p.S1159F|RIMS2_ENST00000507740.1_Missense_Mutation_p.S1134F			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1382	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCTTCCTCCCTAGTAGAT	0.443										HNSCC(12;0.0054)			ENSG00000176406																																					0													168.0	168.0	168.0					8																	105263957		1874	4102	5976	SO:0001583	missense	0			-	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4013C>T	8.37:g.105263957C>T	ENSP00000390665:p.Ser1338Phe		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1320F	ENST00000436393.2	37	c.3959		8	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761941	0.69763	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.64	5.64	0.86602	.	.	.	.	.	D	0.89259	0.6664	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.90000	0.4114	9	0.87932	D	0	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	1338;1159;1134;1320	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	F	1357;1320;1382;1159;1134;1338;256;256	ENSP00000384892:S1320F;ENSP00000262231:S1159F;ENSP00000423559:S1134F;ENSP00000390665:S1338F;ENSP00000428478:S256F;ENSP00000342051:S256F	ENSP00000262231:S1159F	S	+	2	0	RIMS2	105333133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.809000	0.86057	2.660000	0.90430	0.655000	0.94253	TCC	-	RIMS2	-	superfamily_C2_dom		0.443	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	0	0		68	68		0.00		C	NM_001100117		105263957	+1	25		57		tier1	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	30.49		SNP	1.000	T	25	57
NRXN3	9369	genome.wustl.edu	37	14	78709968	78709968	+	IGR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:78709968G>A								RNA5SP388 (65704 upstream) : RP11-332E19.2 (35946 downstream)																							GTTAATTCTGGATCTCAAGTA	0.572													ENSG00000021645																																					0													70.0	70.0	70.0					14																	78709968		876	1991	2867	SO:0001628	intergenic_variant	0			-																													14.37:g.78709968G>A				Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.D178N		37	c.532		14	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332905	0.41297	.	.	ENSG00000021645	ENST00000330071;ENST00000332068	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	T	0.72045	0.3412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69217	-0.5203	4	.	.	.	.	15.5411	0.76048	0.0675:0.0:0.9325:0.0	.	.	.	.	N	178	.	.	D	+	1	0	NRXN3	77779721	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.745000	0.74860	2.831000	0.97527	0.650000	0.86243	GAT	-	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	0	0.572					NRXN3	HGNC			0	0		42	42		0.00		G			78709968	+1	6		9		tier1	no_errors	ENST00000554738	ensembl	human	known	74_37	missense	40.00		SNP	1.000	A	6	9
ALMS1	7840	genome.wustl.edu	37	2	73681154	73681154	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:73681154C>T	ENST00000264448.6	+	8	7608	c.7497C>T	c.(7495-7497)ctC>ctT	p.L2499L	ALMS1-IT1_ENST00000441587.2_RNA|ALMS1_ENST00000377715.1_Silent_p.L2499L|ALMS1_ENST00000409009.1_Silent_p.L2457L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2499					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAAATACTCAGAAATGCAG	0.398													ENSG00000116127																																					0													49.0	47.0	48.0					2																	73681154		1903	4112	6015	SO:0001819	synonymous_variant	0			-	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7497C>T	2.37:g.73681154C>T			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.L2499	ENST00000264448.6	37	c.7497	CCDS42697.1	2																																																																																			-	ALMS1	-	NULL		0.398	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	0	0		57	57		0.00		C	NM_015120		73681154	+1	24		28		tier1	no_errors	ENST00000264448	ensembl	human	known	74_37	silent	46.15		SNP	0.997	T	24	28
MYH14	79784	genome.wustl.edu	37	19	50735284	50735284	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50735284G>A	ENST00000596571.1	+	8	1047	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	MYH14_ENST00000598205.1_Silent_p.L357L|MYH14_ENST00000376970.2_Silent_p.L349L|MYH14_ENST00000262269.8_Silent_p.L357L|MYH14_ENST00000425460.1_Silent_p.L357L|MYH14_ENST00000440075.2_Silent_p.L357L|MYH14_ENST00000601313.1_Silent_p.L357L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	349	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAGACGCTGGAGTCGCTGC	0.667													ENSG00000105357																																					0													35.0	38.0	37.0					19																	50735284		1959	4132	6091	SO:0001819	synonymous_variant	0			-	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1047G>A	19.37:g.50735284G>A			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L357	ENST00000596571.1	37	c.1071	CCDS59411.1	19																																																																																			-	MYH14	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	0	0		65	65		0.00		G	NM_024729		50735284	+1	13		53		tier1	no_errors	ENST00000262269	ensembl	human	known	74_37	silent	19.70		SNP	1.000	A	13	53
EXOC6	54536	genome.wustl.edu	37	10	94669234	94669234	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:94669234C>T	ENST00000260762.6	+	6	523	c.509C>T	c.(508-510)cCc>cTc	p.P170L	EXOC6_ENST00000371547.4_Missense_Mutation_p.P186L|EXOC6_ENST00000371552.4_Missense_Mutation_p.P165L|EXOC6_ENST00000443748.2_Missense_Mutation_p.P170L	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	170					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GTGTACTTTCCCTGGGTTAGT	0.343													ENSG00000138190																																					0													103.0	106.0	105.0					10																	94669234		2203	4300	6503	SO:0001583	missense	0			-	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.509C>T	10.37:g.94669234C>T	ENSP00000260762:p.Pro170Leu		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.P186L	ENST00000260762.6	37	c.557	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812319	0.70912	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	M	0.75447	2.3	0.38272	D	0.942177	D;P;D;P;P	0.67145	0.996;0.666;0.983;0.937;0.937	D;B;P;P;P	0.70487	0.969;0.162;0.703;0.477;0.615	T	0.65606	-0.6127	10	0.59425	D	0.04	-6.9604	20.1438	0.98071	0.0:1.0:0.0:0.0	.	186;170;162;170;165	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	L	186;165;170;170	ENSP00000360602:P186L;ENSP00000360607:P165L;ENSP00000396206:P170L;ENSP00000260762:P170L	ENSP00000260762:P170L	P	+	2	0	EXOC6	94659214	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.525000	0.81892	2.768000	0.95171	0.650000	0.86243	CCC	-	EXOC6	-	pirsf_Sec15		0.343	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	0	0		138	138		0.00		C	NM_019053		94669234	+1	39		80		tier1	no_errors	ENST00000371547	ensembl	human	known	74_37	missense	32.77		SNP	1.000	T	39	80
ANKRD42	338699	genome.wustl.edu	37	11	82920661	82920661	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:82920661C>T	ENST00000393392.2	+	4	408				RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000526731.1_Intron|ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000531895.1_Intron|ANKRD42_ENST00000533342.1_Intron|ANKRD42_ENST00000393389.3_Intron|ANKRD42_ENST00000260047.6_Intron	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42						positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGCCCACTACCCAAGAAGCCA	0.448													ENSG00000254551																																					0																																										SO:0001627	intron_variant	0			-	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.247-681C>T	11.37:g.82920661C>T			Q49A49	R	SNP	-	NULL	ENST00000393392.2	37	NULL	CCDS8265.1	11																																																																																			-	RP11-727A23.7	-	-		0.448	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ENSG00000254551	Clone_based_vega_gene	protein_coding	OTTHUMT00000392934.1	0	0		79	79		0.00		C	NM_182603		82920661	-1	26		99		tier1	no_errors	ENST00000531869	ensembl	human	known	74_37	rna	20.63		SNP	1.000	T	26	99
HNRNPK	3190	genome.wustl.edu	37	9	86593139	86593139	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:86593139A>G	ENST00000376264.2	-	3	287	c.29T>C	c.(28-30)tTc>tCc	p.F10S	HNRNPK_ENST00000351839.3_Missense_Mutation_p.F10S|RMI1_ENST00000325875.3_5'Flank|HNRNPK_ENST00000376281.4_Missense_Mutation_p.F10S|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376263.3_Missense_Mutation_p.F10S|HNRNPK_ENST00000360384.5_Missense_Mutation_p.F10S	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	10	Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AGTGTTAGGGAAGGTTTCTTC	0.323													ENSG00000165119																																					0													85.0	86.0	86.0					9																	86593139		2203	4300	6503	SO:0001583	missense	0			-		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.29T>C	9.37:g.86593139A>G	ENSP00000365440:p.Phe10Ser		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.F10S	ENST00000376264.2	37	c.29	CCDS6667.1	9	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548971	0.86127	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T	0.57107	0.43;0.42;0.43;0.42;0.42	5.03	5.03	0.67393	ROK, N-terminal (1);	0.242810	0.44285	D	0.000478	T	0.61640	0.2363	L	0.36672	1.1	0.51482	D	0.999929	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.996;0.997;0.997;0.999;0.994;0.998;0.999	T	0.56968	-0.7891	10	0.22706	T	0.39	-2.5022	15.0437	0.71811	1.0:0.0:0.0:0.0	.	10;10;10;10;10;10;10;10	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	S	10	ENSP00000365458:F10S;ENSP00000365440:F10S;ENSP00000365439:F10S;ENSP00000317788:F10S;ENSP00000353552:F10S	ENSP00000317788:F10S	F	-	2	0	HNRNPK	85782959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.550000	0.82173	2.007000	0.58848	0.533000	0.62120	TTC	-	HNRNPK	-	pfam_ROK_N		0.323	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2	0	0		73	73		0.00		A			86593139	-1	12		62		tier1	no_errors	ENST00000376263	ensembl	human	known	74_37	missense	16.22		SNP	1.000	G	12	62
GLB1L2	89944	genome.wustl.edu	37	11	134244501	134244501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:134244501G>A	ENST00000535456.2	+	18	1901	c.1713G>A	c.(1711-1713)tgG>tgA	p.W571*	GLB1L2_ENST00000389881.3_Nonsense_Mutation_p.W571*|GLB1L2_ENST00000339772.7_Nonsense_Mutation_p.W571*|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	571					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCAAGGGCTGGGAGAAGGGGG	0.552													ENSG00000149328																																					0													126.0	126.0	126.0					11																	134244501		2201	4297	6498	SO:0001587	stop_gained	0			-		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1713G>A	11.37:g.134244501G>A	ENSP00000444628:p.Trp571*		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Nonsense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.W571*	ENST00000535456.2	37	c.1713	CCDS31724.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.598405|6.598405	0.97692|0.97692	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000525089|ENST00000339772;ENST00000535456;ENST00000389881	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47673|.	0.1458|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37291|.	-0.9712|.	3|.	.|0.02654	.|T	.|1	-13.7639|-13.7639	19.2374|19.2374	0.93866|0.93866	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	510|571	.|.	.|ENSP00000344659:W571X	G|W	+|+	1|3	0|0	GLB1L2|GLB1L2	133749711|133749711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.485000|8.485000	0.90448|0.90448	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	GGA|TGG	-	GLB1L2	-	superfamily_Galactose-bd-like		0.552	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	HGNC	protein_coding	OTTHUMT00000393629.2	0	0		36	36		0.00		G	NM_138342		134244501	+1	11		23		tier1	no_errors	ENST00000339772	ensembl	human	known	74_37	nonsense	32.35		SNP	1.000	A	11	23
RNF222	643904	genome.wustl.edu	37	17	8296715	8296715	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:8296715C>T	ENST00000399398.2	-	3	373	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	RNF222_ENST00000344001.3_Missense_Mutation_p.R22Q	NM_001146684.2	NP_001140156.1	A6NCQ9	RN222_HUMAN	ring finger protein 222	22						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)	1						CTCCAGGTCCCGGAACTTCTC	0.642													ENSG00000189051																																					0													74.0	69.0	70.0					17																	8296715		692	1591	2283	SO:0001583	missense	0			-		CCDS45608.1	17p13.1	2013-01-09			ENSG00000189051	ENSG00000189051		"""RING-type (C3HC4) zinc fingers"""	34517	protein-coding gene	gene with protein product							Standard	NM_001146684		Approved		uc010vuy.1	A6NCQ9	OTTHUMG00000132049	ENST00000399398.2:c.65G>A	17.37:g.8296715C>T	ENSP00000382330:p.Arg22Gln			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R22Q	ENST00000399398.2	37	c.65	CCDS45608.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587987	0.46110	.	.	ENSG00000189051	ENST00000344001;ENST00000399398	T;T	0.39229	1.09;1.09	4.62	3.62	0.41486	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.250779	0.27976	N	0.017096	T	0.18467	0.0443	N	0.16233	0.39	0.29438	N	0.859385	B	0.26672	0.156	B	0.17433	0.018	T	0.16867	-1.0388	10	0.07482	T	0.82	-0.9989	4.242	0.10652	0.0:0.6029:0.2115:0.1856	.	22	A6NCQ9	RN222_HUMAN	Q	22	ENSP00000343799:R22Q;ENSP00000382330:R22Q	ENSP00000343799:R22Q	R	-	2	0	RNF222	8237440	0.984000	0.35163	0.938000	0.37757	0.991000	0.79684	2.444000	0.44890	1.131000	0.42111	0.643000	0.83706	CGG	-	RNF222	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.642	RNF222-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF222	HGNC	protein_coding	OTTHUMT00000255072.2	0	0		16	16		0.00		C	NM_001146684.2		8296715	-1	8		20		tier1	no_errors	ENST00000344001	ensembl	human	known	74_37	missense	27.59		SNP	0.906	T	8	20
FLNC	2318	genome.wustl.edu	37	7	128498132	128498132	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:128498132C>T	ENST00000325888.8	+	47	8112	c.7851C>T	c.(7849-7851)tcC>tcT	p.S2617S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.S2584S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2617	Hinge 2.|Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACCAAGTCCTCCTCAAGCC	0.637													ENSG00000128591																																					0													20.0	22.0	21.0					7																	128498132		2090	4209	6299	SO:0001819	synonymous_variant	0			-	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7851C>T	7.37:g.128498132C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S2617	ENST00000325888.8	37	c.7851	CCDS43644.1	7																																																																																			-	FLNC	-	NULL		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	0	0		103	103		0.00		C			128498132	+1	61		124		tier1	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	32.62		SNP	0.002	T	61	124
NCOR2	9612	genome.wustl.edu	37	12	124841221	124841221	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:124841221G>A	ENST00000405201.1	-	23	3208	c.3208C>T	c.(3208-3210)Ccg>Tcg	p.P1070S	NCOR2_ENST00000404121.2_Missense_Mutation_p.P631S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1061S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1060S|NCOR2_ENST00000356219.3_Missense_Mutation_p.P1077S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1060S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1078					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GAGGGGTCCGGGGCATGCGGG	0.657													ENSG00000196498																																					0													23.0	28.0	27.0					12																	124841221		1918	4124	6042	SO:0001583	missense	0			-	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3208C>T	12.37:g.124841221G>A	ENSP00000384018:p.Pro1070Ser		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P1077S	ENST00000405201.1	37	c.3229	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235225	0.39498	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.29655	2.32;2.58;2.32;2.58;2.32;2.58;1.56	4.35	3.4	0.38934	.	0.193328	0.34223	N	0.004160	T	0.18002	0.0432	N	0.08118	0	0.18873	N	0.999988	P;P;P	0.48407	0.91;0.851;0.908	B;B;P	0.45753	0.388;0.297;0.492	T	0.06643	-1.0815	10	0.31617	T	0.26	-11.1214	9.8731	0.41187	0.0:0.3:0.7:0.0	.	1060;1061;1070	C9J0Q5;C9J239;C9JFD3	.;.;.	S	1070;1060;1077;1061;1069;631;1060;1078	ENSP00000384018:P1070S;ENSP00000384202:P1060S;ENSP00000348551:P1077S;ENSP00000380513:P1061S;ENSP00000385618:P631S;ENSP00000400281:P1060S;ENSP00000402808:P1078S	ENSP00000348551:P1077S	P	-	1	0	NCOR2	123407174	0.978000	0.34361	0.928000	0.36995	0.990000	0.78478	1.444000	0.35068	0.900000	0.36469	0.561000	0.74099	CCG	-	NCOR2	-	NULL		0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	0	0		45	45		0.00		G	NM_006312		124841221	-1	31		34		tier1	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	47.69		SNP	0.353	A	31	34
CCDC88A	55704	genome.wustl.edu	37	2	55535926	55535926	+	Intron	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:55535926A>G	ENST00000436346.1	-	25	5229				CCDC88A_ENST00000263630.8_Intron|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000336838.6_Intron|CCDC88A_ENST00000422883.2_Intron|AC012358.8_ENST00000366287.4_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACGATGTTTAAAGAGTTTAA	0.358													ENSG00000240401																																					0													57.0	59.0	58.0					2																	55535926		2203	4300	6503	SO:0001627	intron_variant	0			-	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4387+18T>C	2.37:g.55535926A>G			A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	R	SNP	-	NULL	ENST00000436346.1	37	NULL		2																																																																																			-	AC012358.8	-	-		0.358	CCDC88A-203	KNOWN	basic	protein_coding	ENSG00000240401	Clone_based_vega_gene	protein_coding		0	0		62	62		0.00		A	NM_017571		55535926	+1	17		63		tier1	no_errors	ENST00000366287	ensembl	human	known	74_37	rna	21.25		SNP	0.012	G	17	63
C10orf71	118461	genome.wustl.edu	37	10	50531798	50531798	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:50531798A>C	ENST00000374144.3	+	3	1496	c.1208A>C	c.(1207-1209)cAg>cCg	p.Q403P	C10orf71_ENST00000323868.4_Missense_Mutation_p.Q403P			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	403										endometrium(1)	1						GAAAAGACACAGACCAACCAG	0.463													ENSG00000177354																																					0													111.0	113.0	112.0					10																	50531798		1870	4104	5974	SO:0001583	missense	0			-	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1208A>C	10.37:g.50531798A>C	ENSP00000363259:p.Gln403Pro		A0AVL8	Missense_Mutation	SNP	NULL	p.Q403P	ENST00000374144.3	37	c.1208	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	A	8.057	0.767337	0.15983	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.15139	2.45;3.57	5.64	1.95	0.26073	.	0.441183	0.16877	N	0.195870	T	0.16428	0.0395	L	0.57536	1.79	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.18999	-1.0319	10	0.35671	T	0.21	.	8.8199	0.35018	0.5736:0.3622:0.0642:0.0	.	403	Q711Q0-3	.	P	403	ENSP00000318713:Q403P;ENSP00000363259:Q403P	ENSP00000318713:Q403P	Q	+	2	0	C10orf71	50201804	0.018000	0.18449	0.006000	0.13384	0.004000	0.04260	1.156000	0.31712	0.081000	0.16988	-0.316000	0.08728	CAG	-	C10orf71	-	NULL		0.463	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	0	0		35	35		0.00		A	NM_199459		50531798	+1	8		37		tier1	no_errors	ENST00000374144	ensembl	human	known	74_37	missense	17.78		SNP	0.000	C	8	37
HEATR1	55127	genome.wustl.edu	37	1	236719489	236719489	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:236719489G>A	ENST00000366582.3	-	38	5539	c.5425C>T	c.(5425-5427)Ctt>Ttt	p.L1809F	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1728F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1809					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTCTTTTTAAGAGATGTGAGA	0.433													ENSG00000119285																																					0													136.0	133.0	134.0					1																	236719489		2203	4300	6503	SO:0001583	missense	0			-	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5425C>T	1.37:g.236719489G>A	ENSP00000355541:p.Leu1809Phe		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L1809F	ENST00000366582.3	37	c.5425	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285540	0.40394	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.72282	-0.64;-0.64	4.81	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.070046	0.52532	D	0.000066	T	0.77552	0.4147	M	0.65975	2.015	0.80722	D	1	P;D	0.76494	0.76;0.999	B;D	0.69479	0.441;0.964	T	0.72944	-0.4138	10	0.21540	T	0.41	.	8.9796	0.35957	0.173:0.0:0.827:0.0	.	1728;1809	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	F	1809;1728	ENSP00000355541:L1809F;ENSP00000355540:L1728F	ENSP00000355540:L1728F	L	-	1	0	HEATR1	234786112	1.000000	0.71417	0.933000	0.37362	0.116000	0.19942	2.872000	0.48467	2.507000	0.84556	0.650000	0.86243	CTT	-	HEATR1	-	superfamily_ARM-type_fold		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	0	0		53	53		0.00		G	XM_375853		236719489	-1	25		43		tier1	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	36.23		SNP	0.895	A	25	43
TMEM11	8834	genome.wustl.edu	37	17	21102021	21102021	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:21102021A>G	ENST00000317635.5	-	2	666	c.195T>C	c.(193-195)acT>acC	p.T65T	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	65					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGCCAATGCGAGTGGGCTCAA	0.607													ENSG00000178307																																					0													76.0	59.0	65.0					17																	21102021		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 35"""	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.195T>C	17.37:g.21102021A>G			Q53YB2	Silent	SNP	NULL	p.T65	ENST00000317635.5	37	c.195	CCDS11216.1	17																																																																																			-	TMEM11	-	NULL		0.607	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM11	HGNC	protein_coding	OTTHUMT00000444150.2	0	0		26	26		0.00		A	NM_003876		21102021	-1	17		36		tier1	no_errors	ENST00000317635	ensembl	human	known	74_37	silent	32.08		SNP	0.296	G	17	36
MCM3AP	8888	genome.wustl.edu	37	21	47704037	47704037	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47704037G>A	ENST00000397708.1	-	2	1418	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000397691.1_5'Flank|MCM3AP_ENST00000291688.1_Silent_p.S388S|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000329319.3_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	388					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTGGAATCCGGGAAGGTGCCA	0.478													ENSG00000160294																																					0													104.0	109.0	108.0					21																	47704037		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1164C>T	21.37:g.47704037G>A			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.S388	ENST00000397708.1	37	c.1164	CCDS13734.1	21																																																																																			-	MCM3AP	-	NULL		0.478	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	0	0		63	63		0.00		G	NM_003906		47704037	-1	32		78		tier1	no_errors	ENST00000291688	ensembl	human	known	74_37	silent	29.09		SNP	0.273	A	32	78
MAST4	375449	genome.wustl.edu	37	5	66088026	66088026	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:66088026C>T	ENST00000403625.2	+	3	937				MAST4_ENST00000404260.3_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000406374.1_Intron	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTCTCTTTTCCTTGTCTTCAA	0.423													ENSG00000069020																																					0																																										SO:0001627	intron_variant	0			-	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.642+3404C>T	5.37:g.66088026C>T			A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	R	SNP	-	NULL	ENST00000403625.2	37	NULL	CCDS54861.1	5																																																																																			-	MAST4	-	-		0.423	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	0	0		69	69		0.00		C			66088026	+1	27		50		tier1	no_errors	ENST00000451144	ensembl	human	putative	74_37	rna	35.06		SNP	0.000	T	27	50
EDC4	23644	genome.wustl.edu	37	16	67914702	67914702	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:67914702C>T	ENST00000358933.5	+	18	2579	c.2340C>T	c.(2338-2340)tcC>tcT	p.S780S	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	780					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACCTGCTGTCCCCACGGCCCC	0.672													ENSG00000038358																																					0													59.0	62.0	61.0					16																	67914702		2198	4300	6498	SO:0001819	synonymous_variant	0			-	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2340C>T	16.37:g.67914702C>T			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S780	ENST00000358933.5	37	c.2340	CCDS10849.1	16																																																																																			-	EDC4	-	NULL		0.672	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	0	0		19	19		0.00		C	NM_014329		67914702	+1	11		11		tier1	no_errors	ENST00000358933	ensembl	human	known	74_37	silent	50.00		SNP	0.987	T	11	11
CEP290	80184	genome.wustl.edu	37	12	88474097	88474097	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:88474097C>T	ENST00000552810.1	-	38	5431	c.5088G>A	c.(5086-5088)caG>caA	p.Q1696Q	CEP290_ENST00000397838.3_Silent_p.Q756Q|CEP290_ENST00000309041.7_Silent_p.Q1698Q|CEP290_ENST00000547691.2_Silent_p.Q756Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1696					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CCTTTTGTGACTGGTCCAGAA	0.363													ENSG00000198707																																					0													179.0	159.0	165.0					12																	88474097		1838	4084	5922	SO:0001819	synonymous_variant	0			-	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5088G>A	12.37:g.88474097C>T			Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	NULL	p.Q1698	ENST00000552810.1	37	c.5094	CCDS55858.1	12																																																																																			-	CEP290	-	NULL		0.363	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	0	0		53	53		0.00		C	NM_025114		88474097	-1	12		40		tier1	no_errors	ENST00000309041	ensembl	human	known	74_37	silent	23.08		SNP	0.997	T	12	40
SLC22A12	116085	genome.wustl.edu	37	11	64366349	64366349	+	Missense_Mutation	SNP	C	C	T	rs548145636	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64366349C>T	ENST00000377574.1	+	6	1771	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	SLC22A12_ENST00000377567.2_Missense_Mutation_p.R234C|SLC22A12_ENST00000473690.1_Missense_Mutation_p.R121C|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R234C|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R308C	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	342					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CACCCTGCTCCGCATGCCCGG	0.662													ENSG00000197891	C|||	6	0.00119808	0.0	0.0	5008	,	,		17437	0.0		0.0	False		,,,				2504	0.0061																0													43.0	38.0	39.0					11																	64366349		2201	4297	6498	SO:0001583	missense	0			-	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1024C>T	11.37:g.64366349C>T	ENSP00000366797:p.Arg342Cys		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R342C	ENST00000377574.1	37	c.1024	CCDS8075.1	11	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485133	0.26598	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	3.84	-1.39	0.08997	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.314276	0.33180	N	0.005200	T	0.48003	0.1476	L	0.47016	1.485	0.09310	N	1	B;B;B;B	0.24043	0.045;0.096;0.051;0.096	B;B;B;B	0.19946	0.016;0.027;0.01;0.027	T	0.40794	-0.9544	10	0.52906	T	0.07	.	8.0212	0.30410	0.0:0.5302:0.0:0.4698	.	308;342;234;342	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	C	234;342;234;121;308	ENSP00000366790:R234C;ENSP00000366797:R342C;ENSP00000366795:R234C;ENSP00000438437:R121C;ENSP00000336836:R308C	ENSP00000336836:R308C	R	+	1	0	SLC22A12	64122925	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.092000	0.11129	-0.232000	0.09811	0.455000	0.32223	CGC	-	SLC22A12	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.662	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	0	0		58	58		0.00		C	NM_144585		64366349	+1	31		63		tier1	no_errors	ENST00000377574	ensembl	human	known	74_37	missense	32.98		SNP	0.000	T	31	63
RPS6KA1	6195	genome.wustl.edu	37	1	26878196	26878196	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:26878196C>T	ENST00000374168.2	+	6	604	c.450C>T	c.(448-450)ttC>ttT	p.F150F	RPS6KA1_ENST00000526792.1_Silent_p.F58F|RPS6KA1_ENST00000530003.1_Silent_p.F134F|RPS6KA1_ENST00000374162.2_Silent_p.F58F|RPS6KA1_ENST00000531382.1_Silent_p.F159F|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000374166.4_Silent_p.F150F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	150	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGGACCTCTTCACCCGGCTCT	0.602													ENSG00000117676																																					0													107.0	94.0	98.0					1																	26878196		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.450C>T	1.37:g.26878196C>T			A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F159	ENST00000374168.2	37	c.477	CCDS284.1	1																																																																																			-	RPS6KA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom		0.602	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	0	0		44	44		0.00		C	NM_002953		26878196	+1	14		55		tier1	no_errors	ENST00000531382	ensembl	human	known	74_37	silent	20.00		SNP	1.000	T	14	55
ZFAT	57623	genome.wustl.edu	37	8	135596113	135596113	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:135596113C>T	ENST00000377838.3	-	10	3023	c.2849G>A	c.(2848-2850)gGg>gAg	p.G950E	ZFAT_ENST00000520356.1_Missense_Mutation_p.G938E|ZFAT_ENST00000523399.1_Missense_Mutation_p.G888E|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Missense_Mutation_p.G938E|ZFAT_ENST00000429442.2_Missense_Mutation_p.G938E|ZFAT_ENST00000520214.1_Missense_Mutation_p.G938E	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	950					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTTCAGTGTCCCTTTTGATTT	0.443													ENSG00000066827																																					0													170.0	153.0	158.0					8																	135596113		1961	4165	6126	SO:0001583	missense	0			-	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2849G>A	8.37:g.135596113C>T	ENSP00000367069:p.Gly950Glu		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G950E	ENST00000377838.3	37	c.2849	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290412	0.80914	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.277534	0.38326	N	0.001739	T	0.24044	0.0582	L	0.34521	1.04	0.34804	D	0.737069	D;D;D	0.89917	0.991;1.0;0.961	P;D;P	0.68621	0.629;0.959;0.541	T	0.04579	-1.0941	10	0.45353	T	0.12	-34.0567	18.7762	0.91912	0.0:1.0:0.0:0.0	.	888;938;950	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	E	938;938;938;950;938;837;888	ENSP00000427879:G938E;ENSP00000427831:G938E;ENSP00000394501:G938E;ENSP00000367069:G950E;ENSP00000428483:G938E;ENSP00000429091:G888E	ENSP00000326997:G837E	G	-	2	0	ZFAT	135665295	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.793000	0.62474	2.669000	0.90835	0.563000	0.77884	GGG	-	ZFAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	0	0		92	92		0.00		C	NM_001029939		135596113	-1	43		72		tier1	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	37.39		SNP	1.000	T	43	72
GPR137	56834	genome.wustl.edu	37	11	64056753	64056753	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64056753C>T	ENST00000313074.3	+	7	1275	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000411458.1_Silent_p.A448A|KCNK4_ENST00000394525.2_5'Flank|GPR137_ENST00000539851.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000438980.2_3'UTR|KCNK4_ENST00000422670.2_5'Flank	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	390						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGCTTCTTGCCCAGGATCCTG	0.662													ENSG00000173264																																					0													105.0	108.0	106.0					11																	64056753		2201	4297	6498	SO:0001819	synonymous_variant	0			-	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1170C>T	11.37:g.64056753C>T			B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Silent	SNP	NULL	p.A390	ENST00000313074.3	37	c.1170	CCDS8066.1	11																																																																																			-	GPR137	-	NULL		0.662	GPR137-003	KNOWN	basic|CCDS	protein_coding	GPR137	HGNC	protein_coding	OTTHUMT00000396412.1	0	0		40	40		0.00		C	NM_020155		64056753	+1	25		40		tier1	no_errors	ENST00000313074	ensembl	human	known	74_37	silent	38.46		SNP	0.995	T	25	40
UGGT1	56886	genome.wustl.edu	37	2	128867235	128867235	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:128867235G>A	ENST00000259253.6	+	5	483	c.436G>A	c.(436-438)Gga>Aga	p.G146R	UGGT1_ENST00000375990.3_Missense_Mutation_p.G122R	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	146					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCACCAGAAGGATGTAATTC	0.368													ENSG00000136731																																					0													183.0	169.0	174.0					2																	128867235		2203	4300	6503	SO:0001583	missense	0			-	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.436G>A	2.37:g.128867235G>A	ENSP00000259253:p.Gly146Arg		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.G146R	ENST00000259253.6	37	c.436	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794177	0.31777	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08720	3.06;3.06	5.5	5.5	0.81552	.	0.108147	0.64402	D	0.000005	T	0.13243	0.0321	M	0.78049	2.395	0.50171	D	0.999853	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.03587	-1.1022	10	0.22109	T	0.4	.	13.6694	0.62416	0.0753:0.0:0.9247:0.0	.	122;146	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	R	122;146	ENSP00000365158:G122R;ENSP00000259253:G146R	ENSP00000259253:G146R	G	+	1	0	UGGT1	128583705	1.000000	0.71417	0.946000	0.38457	0.234000	0.25298	5.116000	0.64661	2.736000	0.93811	0.591000	0.81541	GGA	-	UGGT1	-	NULL		0.368	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	0	0		55	55		0.00		G	NM_020120		128867235	+1	28		36		tier1	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	43.75		SNP	0.824	A	28	36
ATP11A	23250	genome.wustl.edu	37	13	113488923	113488923	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:113488923G>A	ENST00000487903.1	+	15	1668	c.1580G>A	c.(1579-1581)aGg>aAg	p.R527K	ATP11A_ENST00000375630.2_Missense_Mutation_p.R527K|ATP11A_ENST00000283558.8_Missense_Mutation_p.R527K|ATP11A_ENST00000375645.3_Missense_Mutation_p.R527K			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	527					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACCTACCTAAGGCTGAAGGAC	0.418													ENSG00000068650																																					0													202.0	198.0	200.0					13																	113488923		2203	4300	6503	SO:0001583	missense	0			-	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1580G>A	13.37:g.113488923G>A	ENSP00000420387:p.Arg527Lys		Q5VXT2	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.R527K	ENST00000487903.1	37	c.1580	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.06|14.06	2.423197|2.423197	0.43020|0.43020	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|T;T;T;T	.|0.62498	.|0.02;0.02;0.02;0.02	4.84|4.84	4.84|4.84	0.62591|0.62591	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.133790	.|0.56097	.|D	.|0.000033	T|T	0.53126|0.53126	0.1777|0.1777	N|N	0.11698|0.11698	0.16|0.16	0.53688|0.53688	D|D	0.999973|0.999973	.|B;B;B	.|0.28783	.|0.222;0.001;0.0	.|B;B;B	.|0.43658	.|0.426;0.006;0.004	T|T	0.44802|0.44802	-0.9304|-0.9304	5|10	.|0.06757	.|T	.|0.87	.|.	18.3346|18.3346	0.90283|0.90283	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|527;527;527	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	S|K	502|527	.|ENSP00000420387:R527K;ENSP00000364781:R527K;ENSP00000364796:R527K;ENSP00000283558:R527K	.|ENSP00000283558:R527K	G|R	+|+	1|2	0|0	ATP11A|ATP11A	112536924|112536924	1.000000|1.000000	0.71417|0.71417	0.704000|0.704000	0.30370|0.30370	0.054000|0.054000	0.15201|0.15201	9.002000|9.002000	0.93572|0.93572	2.388000|2.388000	0.81334|0.81334	0.561000|0.561000	0.74099|0.74099	GGC|AGG	-	ATP11A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.418	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	0	0		115	115		0.00		G	NM_015205		113488923	+1	26		69		tier1	no_errors	ENST00000375630	ensembl	human	known	74_37	missense	27.37		SNP	0.998	A	26	69
TTC39A	22996	genome.wustl.edu	37	1	51761744	51761744	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:51761744G>A	ENST00000447632.2	-	13	1302				TTC39A_ENST00000262675.7_Intron|TTC39A_ENST00000451380.1_Intron|TTC39A_ENST00000534098.1_Intron|TTC39A_ENST00000371747.3_Silent_p.V419V|TTC39A_ENST00000413473.2_Intron|TTC39A_ENST00000530004.1_Intron|TTC39A_ENST00000371750.5_Intron			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A									p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CACGATGTGGGACCCACCGAA	0.602													ENSG00000085831																																					2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											59.0	67.0	64.0					1																	51761744		2045	4184	6229	SO:0001627	intron_variant	0			-	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1253+6C>T	1.37:g.51761744G>A			B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Silent	SNP	pfam_OMP_IML2_mit/TPR_39	p.V419	ENST00000447632.2	37	c.1257		1																																																																																			-	TTC39A	-	pfam_OMP_IML2_mit/TPR_39		0.602	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	0	0		68	68		0.00		G			51761744	-1	40		79		tier1	no_errors	ENST00000371747	ensembl	human	putative	74_37	silent	33.61		SNP	0.100	A	40	79
PTPRN2	5799	genome.wustl.edu	37	7	157959837	157959837	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:157959837C>T	ENST00000389418.4	-	6	705	c.696G>A	c.(694-696)aaG>aaA	p.K232K	PTPRN2_ENST00000389416.4_Silent_p.K215K|PTPRN2_ENST00000389413.3_Silent_p.K232K|PTPRN2_ENST00000404321.2_Silent_p.K255K|PTPRN2_ENST00000409483.1_Silent_p.K194K	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	232					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CACTGTCCACCTTAGGGCTGA	0.701													ENSG00000155093																																					0													40.0	36.0	37.0					7																	157959837		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.696G>A	7.37:g.157959837C>T			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.K255	ENST00000389418.4	37	c.765	CCDS5947.1	7																																																																																			-	PTPRN2	-	NULL		0.701	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	0	0		89	89		0.00		C			157959837	-1	20		110		tier1	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	15.38		SNP	0.024	T	20	110
WDR93	56964	genome.wustl.edu	37	15	90255295	90255295	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:90255295G>A	ENST00000268130.7	+	5	701	c.600G>A	c.(598-600)gaG>gaA	p.E200E	WDR93_ENST00000560294.1_Silent_p.E200E|RNU6-132P_ENST00000383863.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	200					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TAAAGATGGAGATCTCTCAAG	0.413													ENSG00000140527																																					0													86.0	87.0	87.0					15																	90255295		2200	4299	6499	SO:0001819	synonymous_variant	0			-		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.600G>A	15.37:g.90255295G>A			Q8N7Y8|Q9NP89	Silent	SNP	superfamily_WD40_repeat_dom	p.E200	ENST00000268130.7	37	c.600	CCDS32326.1	15																																																																																			-	WDR93	-	superfamily_WD40_repeat_dom		0.413	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	0	0		102	102		0.00		G	NM_020212		90255295	+1	49		41		tier1	no_errors	ENST00000268130	ensembl	human	known	74_37	silent	54.44		SNP	0.007	A	49	41
ARFGAP1	55738	genome.wustl.edu	37	20	61915813	61915813	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:61915813C>T	ENST00000370283.4	+	10	857				ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000353546.3_Intron|ARFGAP1_ENST00000519273.2_Intron|ARFGAP1_ENST00000370275.4_Intron|ARFGAP1_ENST00000547204.1_Intron|MIR4326_ENST00000582203.1_RNA	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GTGCCCTCTTCCCTCCAGGGG	0.662													ENSG00000101199																																					0																																										SO:0001627	intron_variant	0			-	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.718-405C>T	20.37:g.61915813C>T			B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	R	SNP	-	NULL	ENST00000370283.4	37	NULL	CCDS13515.1	20																																																																																			-	ARFGAP1	-	-		0.662	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP1	HGNC	protein_coding	OTTHUMT00000080134.3	0	0		51	51		0.00		C	NM_018209		61915813	+1	19		37		tier1	no_errors	ENST00000468975	ensembl	human	known	74_37	rna	33.93		SNP	0.001	T	19	37
PEG10	23089	genome.wustl.edu	37	7	94298383	94298383	+	3'UTR	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:94298383T>A	ENST00000482108.1	+	0	5994				PEG10_ENST00000465184.1_3'UTR	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGTTTTAGATTGTAGAATGG	0.353													ENSG00000242265																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.*4537T>A	7.37:g.94298383T>A			Q96A68|Q9UPV1	R	SNP	-	NULL	ENST00000482108.1	37	NULL	CCDS55126.1	7																																																																																			-	PEG10	-	-		0.353	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG10	HGNC	protein_coding	OTTHUMT00000340751.1	0	0		61	61		0.00		T	NM_015068		94298383	+1	15		69		tier1	no_errors	ENST00000465184	ensembl	human	known	74_37	rna	17.86		SNP	1.000	A	15	69
TAS2R5	54429	genome.wustl.edu	37	7	141491051	141491051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:141491051G>A	ENST00000247883.4	+	1	1035	c.890G>A	c.(889-891)tGg>tAg	p.W297*		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	297					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CGGAGATGCTGGGGCCCATGA	0.463													ENSG00000127366																																					0													79.0	84.0	82.0					7																	141491051		2203	4299	6502	SO:0001587	stop_gained	0			-	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.890G>A	7.37:g.141491051G>A	ENSP00000247883:p.Trp297*		Q645W0|Q75MV7	Nonsense_Mutation	SNP	pfam_TAS2_rcpt	p.W297*	ENST00000247883.4	37	c.890	CCDS5869.1	7	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717339	0.48622	.	.	ENSG00000127366	ENST00000247883	.	.	.	3.87	-0.483	0.12075	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	3.2624	0.06853	0.3923:0.2126:0.395:0.0	.	.	.	.	X	297	.	ENSP00000247883:W297X	W	+	2	0	TAS2R5	141137520	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.508000	0.22692	0.009000	0.14813	0.650000	0.86243	TGG	-	TAS2R5	-	NULL		0.463	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R5	HGNC	protein_coding	OTTHUMT00000349283.1	0	0		23	23		0.00		G			141491051	+1	10		40		tier1	no_errors	ENST00000247883	ensembl	human	known	74_37	nonsense	20.00		SNP	0.000	A	10	40
GPR124	25960	genome.wustl.edu	37	8	37702291	37702291	+	IGR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:37702291G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000220659.6_Missense_Mutation_p.P326L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCACCCCGGTGGCTCCTTCTC	0.617													ENSG00000104221																																					0													44.0	44.0	44.0					8																	37702291		2203	4300	6503	SO:0001628	intergenic_variant	0			-	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702291G>A			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB	p.P326L	ENST00000412232.2	37	c.977	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	2.552	-0.303832	0.05495	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	3.85	-7.71	0.01254	.	3.324610	0.00575	N	0.000309	T	0.11665	0.0284	N	0.01874	-0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	9	0.24483	T	0.36	.	3.0122	0.06048	0.0996:0.1953:0.3606:0.3445	.	326	Q9HAW0	BRF2_HUMAN	L	326;303	.	ENSP00000220659:P326L	P	-	2	0	BRF2	37821449	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-5.057000	0.00155	-2.602000	0.00450	-0.471000	0.05019	CCA	-	BRF2	-	NULL		0.617	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF2	HGNC	protein_coding	OTTHUMT00000343331.2	0	0		35	35		0.00		G			37702291	-1	8		35		tier1	no_errors	ENST00000220659	ensembl	human	known	74_37	missense	18.60		SNP	0.000	A	8	35
ADNP2	22850	genome.wustl.edu	37	18	77896525	77896525	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:77896525T>A	ENST00000262198.4	+	4	3684	c.3229T>A	c.(3229-3231)Tcc>Acc	p.S1077T		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1077					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGAACTGTTGTCCTCACTCTT	0.313													ENSG00000101544																																					0													54.0	60.0	58.0					18																	77896525		2203	4295	6498	SO:0001583	missense	0			-	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3229T>A	18.37:g.77896525T>A	ENSP00000262198:p.Ser1077Thr		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S1077T	ENST00000262198.4	37	c.3229	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432733	0.43224	.	.	ENSG00000101544	ENST00000262198	D	0.92099	-2.97	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	D	0.94621	0.8266	M	0.63843	1.955	0.09310	N	0.999995	D	0.71674	0.998	D	0.68353	0.957	D	0.89095	0.3485	9	.	.	.	-27.8575	14.423	0.67196	0.0:0.0:0.0:1.0	.	1077	Q6IQ32	ADNP2_HUMAN	T	1077	ENSP00000262198:S1077T	.	S	+	1	0	ADNP2	75997516	0.809000	0.29036	0.425000	0.26659	0.738000	0.42128	0.892000	0.28322	2.009000	0.58944	0.459000	0.35465	TCC	-	ADNP2	-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.313	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	0	0		82	82		0.00		T	NM_014913		77896525	+1	28		24		tier1	no_errors	ENST00000262198	ensembl	human	known	74_37	missense	53.85		SNP	0.115	A	28	24
CHSY3	337876	genome.wustl.edu	37	5	129520880	129520880	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:129520880C>T	ENST00000305031.4	+	3	2403	c.2045C>T	c.(2044-2046)cCc>cTc	p.P682L		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	682					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)		AACAAGTACCCCAAAGCAGAA	0.443													ENSG00000198108																																					0													71.0	66.0	68.0					5																	129520880		2203	4300	6503	SO:0001583	missense	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.2045C>T	5.37:g.129520880C>T	ENSP00000302629:p.Pro682Leu		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_Galc,pfam_Fringe-like	p.P682L	ENST00000305031.4	37	c.2045	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414556	0.62511	.	.	ENSG00000198108	ENST00000305031	T	0.18174	2.23	4.12	4.12	0.48240	.	0.000000	0.53938	D	0.000045	T	0.27313	0.0670	M	0.70595	2.14	0.80722	D	1	P	0.42123	0.771	B	0.44224	0.444	T	0.06807	-1.0806	9	.	.	.	-9.454	17.6798	0.88239	0.0:1.0:0.0:0.0	.	682	Q70JA7	CHSS3_HUMAN	L	682	ENSP00000302629:P682L	.	P	+	2	0	CHSY3	129548779	1.000000	0.71417	0.961000	0.40146	0.940000	0.58332	7.606000	0.82863	2.559000	0.86315	0.650000	0.86243	CCC	-	CHSY3	-	pfam_Chond_Galc		0.443	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	0	0		25	25		0.00		C	NM_175856		129520880	+1	9		31		tier1	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	22.50		SNP	1.000	T	9	31
PCDHGA2	56113	genome.wustl.edu	37	5	140719689	140719689	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140719689G>T	ENST00000394576.2	+	1	1151	c.1151G>T	c.(1150-1152)tGt>tTt	p.C384F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	384	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACCACCTGTTCACTCCCC	0.438													ENSG00000081853																																					0													80.0	82.0	81.0					5																	140719689		2203	4300	6503	SO:0001583	missense	0			-	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1151G>T	5.37:g.140719689G>T	ENSP00000378077:p.Cys384Phe		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C384F	ENST00000394576.2	37	c.1151	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	10.87	1.472968	0.26423	.	.	ENSG00000081853	ENST00000394576	T	0.48522	0.81	5.03	4.09	0.47781	Cadherin (4);Cadherin-like (1);	0.000000	0.45126	U	0.000390	T	0.71099	0.3300	M	0.86573	2.825	0.28458	N	0.91604	P;D	0.76494	0.906;0.999	P;D	0.79784	0.582;0.993	T	0.68078	-0.5504	10	0.87932	D	0	.	14.1736	0.65527	0.0:0.0:0.8496:0.1504	.	384;384	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	F	384	ENSP00000378077:C384F	ENSP00000378077:C384F	C	+	2	0	PCDHGA2	140699873	1.000000	0.71417	0.997000	0.53966	0.032000	0.12392	4.583000	0.60964	2.503000	0.84419	0.561000	0.74099	TGT	-	PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	0	0		66	66		0.00		G	NM_018915		140719689	+1	16		76		tier1	no_errors	ENST00000394576	ensembl	human	known	74_37	missense	17.39		SNP	0.896	T	16	76
TIMP1	7076	genome.wustl.edu	37	X	47446025	47446025	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:47446025C>T	ENST00000218388.4	+	6	729	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|MIR4769_ENST00000584126.1_RNA|TIMP1_ENST00000377017.1_Missense_Mutation_p.L123F	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	187					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						GTCCCGTCACCTTGCCTGCCT	0.607													ENSG00000102265																																					0													95.0	73.0	81.0					X																	47446025		2203	4300	6503	SO:0001583	missense	0			-		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.559C>T	X.37:g.47446025C>T	ENSP00000218388:p.Leu187Phe		Q14252|Q9UCU1	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.L187F	ENST00000218388.4	37	c.559	CCDS14281.1	X	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735240	0.30774	.	.	ENSG00000102265	ENST00000218388;ENST00000377017	D;D	0.94000	-3.33;-3.33	5.23	3.42	0.39159	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.422265	0.20281	N	0.095453	T	0.82019	0.4946	N	0.13235	0.315	0.80722	D	1	B	0.32031	0.352	B	0.27076	0.076	T	0.74150	-0.3758	10	0.10902	T	0.67	.	5.9964	0.19497	0.0:0.762:0.0:0.238	.	187	P01033	TIMP1_HUMAN	F	187;123	ENSP00000218388:L187F;ENSP00000366216:L123F	ENSP00000218388:L187F	L	+	1	0	TIMP1	47330969	0.701000	0.27806	0.995000	0.50966	0.974000	0.67602	1.461000	0.35255	0.969000	0.38237	0.523000	0.50628	CTT	-	TIMP1	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP		0.607	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP1	HGNC	protein_coding	OTTHUMT00000056423.1	0	0		12	12		0.00		C	NM_003254		47446025	+1	12		22		tier1	no_errors	ENST00000218388	ensembl	human	known	74_37	missense	35.29		SNP	0.927	T	12	22
RARRES3	5920	genome.wustl.edu	37	11	63307081	63307081	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63307081C>T	ENST00000255688.3	+	2	151	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	RARRES3_ENST00000537871.1_Intron|RARRES3_ENST00000439013.2_Missense_Mutation_p.H35Y|RARRES3_ENST00000354445.2_Missense_Mutation_p.H35Y	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	35					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CTACGTGATCCATCTGGCTCC	0.473													ENSG00000133321																																					0													105.0	109.0	108.0					11																	63307081		2194	4297	6491	SO:0001583	missense	0			-		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.103C>T	11.37:g.63307081C>T	ENSP00000255688:p.His35Tyr		B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.H35Y	ENST00000255688.3	37	c.103	CCDS41662.1	11	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209579	0.58343	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.45276	0.9;0.9;0.9	4.36	4.36	0.52297	.	0.161271	0.39341	N	0.001381	T	0.70649	0.3248	H	0.94582	3.555	0.28043	N	0.933671	D	0.89917	1.0	D	0.97110	1.0	T	0.68830	-0.5305	10	0.87932	D	0	.	9.9419	0.41585	0.2027:0.7973:0.0:0.0	.	35	Q9UL19	TIG3_HUMAN	Y	35	ENSP00000402943:H35Y;ENSP00000255688:H35Y;ENSP00000346431:H35Y	ENSP00000255688:H35Y	H	+	1	0	RARRES3	63063657	0.997000	0.39634	0.954000	0.39281	0.251000	0.25915	0.767000	0.26575	2.438000	0.82558	0.563000	0.77884	CAT	-	RARRES3	-	NULL		0.473	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARRES3	HGNC	protein_coding	OTTHUMT00000396629.1	0	0		58	58		0.00		C			63307081	+1	37		55		tier1	no_errors	ENST00000255688	ensembl	human	known	74_37	missense	40.22		SNP	0.999	T	37	55
FLG2	388698	genome.wustl.edu	37	1	152325695	152325695	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152325695C>T	ENST00000388718.5	-	3	4639	c.4567G>A	c.(4567-4569)Ggc>Agc	p.G1523S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1523					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)			CCACTTTGGCCGTGAGTGTGT	0.498													ENSG00000143520																																					0													306.0	293.0	297.0					1																	152325695		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.4567G>A	1.37:g.152325695C>T	ENSP00000373370:p.Gly1523Ser		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G1523S	ENST00000388718.5	37	c.4567	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	t	8.024	0.760287	0.15914	.	.	ENSG00000143520	ENST00000388718	T	0.13089	2.62	4.43	-3.1	0.05315	.	.	.	.	.	T	0.01800	0.0057	L	0.46157	1.445	0.09310	N	1	D	0.52996	0.957	B	0.34242	0.178	T	0.43245	-0.9403	9	0.07644	T	0.81	0.9125	5.0308	0.14409	0.0:0.4192:0.23:0.3508	.	1523	Q5D862	FILA2_HUMAN	S	1523	ENSP00000373370:G1523S	ENSP00000373370:G1523S	G	-	1	0	FLG2	150592319	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.790000	0.04604	-0.878000	0.04007	-0.382000	0.06688	GGC	-	FLG2	-	NULL		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	1	1		101	101		0.98		C	NM_001014342		152325695	-1	45		104		tier1	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	30.20		SNP	0.000	T	45	104
CR1	1378	genome.wustl.edu	37	1	207751155	207751155	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:207751155C>T	ENST00000367049.4	+	29	4543	c.4543C>T	c.(4543-4545)Cct>Tct	p.P1515S	CR1_ENST00000367053.1_Missense_Mutation_p.P1065S|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.P1065S|CR1_ENST00000367051.1_Missense_Mutation_p.P1065S|CR1_ENST00000400960.2_Missense_Mutation_p.P1065S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1065	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGGAATTCCTTGTGGGCT	0.483													ENSG00000203710																																					0													112.0	99.0	103.0					1																	207751155		1874	4114	5988	SO:0001583	missense	0			-	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4543C>T	1.37:g.207751155C>T	ENSP00000356016:p.Pro1515Ser		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P1515S	ENST00000367049.4	37	c.4543	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559494	0.27827	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	2.84	-0.396	0.12427	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.12178	0.0296	N	0.11651	0.15	0.09310	N	1	B;P;D	0.59357	0.143;0.928;0.985	B;B;P	0.52710	0.011;0.38;0.707	T	0.11084	-1.0602	9	0.09338	T	0.73	.	3.4752	0.07582	0.4427:0.4224:0.0:0.1349	.	1065;1065;1515	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	S	1065;1065;1065;1065;615;1515	ENSP00000356019:P1065S;ENSP00000356018:P1065S;ENSP00000356020:P1065S;ENSP00000383744:P1065S;ENSP00000436139:P615S;ENSP00000356016:P1515S	ENSP00000356016:P1515S	P	+	1	0	CR1	205817778	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-0.175000	0.09825	-0.066000	0.12998	-0.302000	0.09304	CCT	-	CR1	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	0	0		142	142		0.00		C	NM_000573		207751155	+1	27		185		tier1	no_errors	ENST00000367049	ensembl	human	known	74_37	missense	12.74		SNP	0.010	T	27	185
PCDH9	5101	genome.wustl.edu	37	13	67205408	67205408	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:67205408C>T	ENST00000377865.2	-	3	3408	c.3274G>A	c.(3274-3276)Gaa>Aaa	p.E1092K	RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.E1058K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E1058K|PCDH9_ENST00000544246.1_Missense_Mutation_p.E1092K			Q9HC56	PCDH9_HUMAN	protocadherin 9	1092					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCATAGAATTCGTCCTGTGGC	0.532													ENSG00000184226																																					0													124.0	115.0	118.0					13																	67205408		2203	4300	6503	SO:0001583	missense	0			-	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3274G>A	13.37:g.67205408C>T	ENSP00000367096:p.Glu1092Lys		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1092K	ENST00000377865.2	37	c.3274	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	31	5.102441	0.94245	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.57752	0.46;0.46;0.38;0.38	5.6	5.6	0.85130	.	0.418771	0.23686	N	0.045563	T	0.50582	0.1624	L	0.46157	1.445	0.48830	D	0.999711	P;P;P	0.50943	0.878;0.875;0.94	B;B;B	0.40375	0.231;0.327;0.298	T	0.58370	-0.7648	10	0.87932	D	0	.	19.601	0.95561	0.0:1.0:0.0:0.0	.	1050;1058;1092	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	K	1092;1092;1058;1058	ENSP00000442186:E1092K;ENSP00000367096:E1092K;ENSP00000401699:E1058K;ENSP00000332060:E1058K	ENSP00000332060:E1058K	E	-	1	0	PCDH9	66103409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.684000	0.68197	2.631000	0.89168	0.655000	0.94253	GAA	-	PCDH9	-	NULL		0.532	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	0	0		50	50		0.00		C	NM_203487		67205408	-1	10		42		tier1	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	19.23		SNP	1.000	T	10	42
TYK2	7297	genome.wustl.edu	37	19	10467269	10467269	+	Silent	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10467269A>T	ENST00000525621.1	-	18	3073	c.2592T>A	c.(2590-2592)cgT>cgA	p.R864R	TYK2_ENST00000524462.1_Silent_p.R679R|TYK2_ENST00000264818.6_Silent_p.R864R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	864	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGGTGAGGTCACGCAGGATGG	0.652													ENSG00000105397																																					0													116.0	82.0	94.0					19																	10467269		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2592T>A	19.37:g.10467269A>T			Q6QB10|Q96CH0	Silent	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_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.R864	ENST00000525621.1	37	c.2592	CCDS12236.1	19																																																																																			-	TYK2	-	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		0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	0	0		58	58		0.00		A			10467269	-1	16		56		tier1	no_errors	ENST00000264818	ensembl	human	known	74_37	silent	22.22		SNP	0.678	T	16	56
KDM3B	51780	genome.wustl.edu	37	5	137766111	137766111	+	Silent	SNP	C	C	T	rs541133556		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:137766111C>T	ENST00000314358.5	+	22	5267	c.5067C>T	c.(5065-5067)caC>caT	p.H1689H	KDM3B_ENST00000542866.1_Silent_p.H721H|KDM3B_ENST00000394866.1_Silent_p.H1345H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1689	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						GAGCCCCACACCAGGTGGGTT	0.502													ENSG00000120733	C|||	1	0.000199681	0.0	0.0	5008	,	,		16839	0.001		0.0	False		,,,				2504	0.0																0													108.0	103.0	105.0					5																	137766111		2203	4300	6503	SO:0001819	synonymous_variant	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.5067C>T	5.37:g.137766111C>T			A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.H1689	ENST00000314358.5	37	c.5067	CCDS34242.1	5																																																																																			-	KDM3B	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.502	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	0	0		53	53		0.00		C	NM_016604		137766111	+1	21		49		tier1	no_errors	ENST00000314358	ensembl	human	known	74_37	silent	30.00		SNP	1.000	T	21	49
ZBED5	58486	genome.wustl.edu	37	11	10875745	10875745	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:10875745G>A	ENST00000432999.2	-	3	1246	c.748C>T	c.(748-750)Cgt>Tgt	p.R250C	ZBED5_ENST00000525350.1_Intron|ZBED5_ENST00000413761.2_Missense_Mutation_p.R250C	NM_001143667.1|NM_021211.3	NP_001137139.1|NP_067034.2	Q49AG3	ZBED5_HUMAN	zinc finger, BED-type containing 5	250							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)	4						ttaattcgacgtgcaacagta	0.378													ENSG00000236287																																					0													140.0	108.0	117.0					11																	10875745		692	1591	2283	SO:0001583	missense	0			-	AF205601		11p15.3	2013-05-03			ENSG00000236287	ENSG00000236287		"""Zinc fingers, BED-type"""	30803	protein-coding gene	gene with protein product		615251				10607616, 23533661	Standard	NM_021211		Approved	Buster1	uc009ygh.3	Q49AG3	OTTHUMG00000150341	ENST00000432999.2:c.748C>T	11.37:g.10875745G>A	ENSP00000398106:p.Arg250Cys		B2RCC1|Q05D82|Q86WW3|Q9NT24|Q9UBJ4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd	p.R250C	ENST00000432999.2	37	c.748		11	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445204	0.43429	.	.	ENSG00000236287	ENST00000432999;ENST00000413761	T;T	0.13196	2.61;2.61	4.18	3.26	0.37387	.	0.000000	0.34046	N	0.004320	T	0.35038	0.0918	M	0.78637	2.42	0.37306	D	0.908917	D	0.89917	1.0	D	0.87578	0.998	T	0.40701	-0.9549	10	0.87932	D	0	.	10.1463	0.42767	0.0:0.2027:0.7973:0.0	.	250	Q49AG3	ZBED5_HUMAN	C	250	ENSP00000398106:R250C;ENSP00000415939:R250C	ENSP00000415939:R250C	R	-	1	0	ZBED5	10832321	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	3.451000	0.52964	1.340000	0.45581	0.650000	0.86243	CGT	-	ZBED5	-	NULL		0.378	ZBED5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ZBED5	HGNC	protein_coding	OTTHUMT00000317691.1	0	0		21	21		0.00		G	NM_021211		10875745	-1	11		17		tier1	no_errors	ENST00000413761	ensembl	human	putative	74_37	missense	39.29		SNP	0.997	A	11	17
ITIH5	80760	genome.wustl.edu	37	10	7618664	7618664	+	Nonsense_Mutation	SNP	C	C	T	rs377705957		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:7618664C>T	ENST00000256861.6	-	10	1808	c.1730G>A	c.(1729-1731)tGg>tAg	p.W577*	ITIH5_ENST00000298441.6_Nonsense_Mutation_p.W363*|ITIH5_ENST00000397145.2_Nonsense_Mutation_p.W577*|ITIH5_ENST00000397146.2_Nonsense_Mutation_p.W577*|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Nonsense_Mutation_p.W359*	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	577					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAGGTAGCTCCAGAGACGCTC	0.637													ENSG00000123243																																					0								C	stop/TRP,stop/TRP,stop/TRP	0,4406		0,0,2203	47.0	47.0	47.0		1730,1730,1088	5.4	1.0	10		47	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	ITIH5	NM_001001851.2,NM_030569.6,NM_032817.5	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	577/703,577/943,363/729	7618664	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			-			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1730G>A	10.37:g.7618664C>T	ENSP00000256861:p.Trp577*		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Nonsense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.W577*	ENST00000256861.6	37	c.1730		10	.	.	.	.	.	.	.	.	.	.	C	37	6.594654	0.97692	0.0	1.16E-4	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2672	19.1863	0.93645	0.0:1.0:0.0:0.0	.	.	.	.	X	577;577;363;359;577	.	ENSP00000256861:W577X	W	-	2	0	ITIH5	7658670	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	7.155000	0.77445	2.516000	0.84829	0.462000	0.41574	TGG	-	ITIH5	-	NULL		0.637	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	0	0		45	45		0.00		C	NM_030569		7618664	-1	6		48		tier1	no_errors	ENST00000256861	ensembl	human	known	74_37	nonsense	11.11		SNP	1.000	T	6	48
ABCC12	94160	genome.wustl.edu	37	16	48155692	48155692	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:48155692C>A	ENST00000311303.3	-	11	1992	c.1647G>T	c.(1645-1647)caG>caT	p.Q549H	ABCC12_ENST00000416054.1_Missense_Mutation_p.Q549H|ABCC12_ENST00000448542.1_Missense_Mutation_p.Q549H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	549	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGATCCATGCCTGCTGTGAAA	0.443													ENSG00000140798																																					0													94.0	78.0	83.0					16																	48155692		2201	4300	6501	SO:0001583	missense	0			-	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1647G>T	16.37:g.48155692C>A	ENSP00000311030:p.Gln549His		Q49AL2|Q8TAF0|Q8TEY2	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.Q549H	ENST00000311303.3	37	c.1647	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	9.024	0.985690	0.18889	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.93133	-2.69;-2.69;-3.17	5.41	-0.972	0.10300	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.059230	0.64402	N	0.000002	D	0.90456	0.7011	L	0.38649	1.16	0.45227	D	0.998231	B;P	0.43750	0.024;0.816	B;P	0.47744	0.018;0.556	D	0.87596	0.2494	10	0.87932	D	0	.	12.2771	0.54741	0.0:0.5778:0.0:0.4222	.	549;549	Q96J65-2;Q96J65	.;MRP9_HUMAN	H	549;549;491;549	ENSP00000311030:Q549H;ENSP00000401855:Q549H;ENSP00000413046:Q549H	ENSP00000311030:Q549H	Q	-	3	2	ABCC12	46713193	0.997000	0.39634	0.924000	0.36721	0.105000	0.19272	0.396000	0.20867	-0.158000	0.11040	-0.259000	0.10710	CAG	-	ABCC12	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.443	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	0	0		36	36		0.00		C	NM_033226		48155692	-1	4		46		tier1	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	8.00		SNP	0.998	A	4	46
NAV3	89795	genome.wustl.edu	37	12	78553058	78553058	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:78553058G>A	ENST00000397909.2	+	23	5034	c.4861G>A	c.(4861-4863)Gaa>Aaa	p.E1621K	NAV3_ENST00000228327.6_Missense_Mutation_p.E1621K|NAV3_ENST00000536525.2_Missense_Mutation_p.E1621K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1444K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1621						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATGACAGCGGAACAAAAGGT	0.378										HNSCC(70;0.22)			ENSG00000067798																																					0													103.0	95.0	98.0					12																	78553058		1864	4105	5969	SO:0001583	missense	0			-	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4861G>A	12.37:g.78553058G>A	ENSP00000381007:p.Glu1621Lys		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1621K	ENST00000397909.2	37	c.4861		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.291879|4.291879	0.80914|0.80914	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.94232|.	-3.38;-3.38;-3.38;-3.38;-3.38|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.40818|.	U|.	0.001009|.	T|T	0.78381|0.78381	0.4274|0.4274	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.71674|.	0.754;0.996;0.583;0.998|.	B;D;B;D|.	0.78314|.	0.41;0.987;0.118;0.991|.	T|T	0.77816|0.77816	-0.2447|-0.2447	10|5	0.87932|.	D|.	0|.	-22.2012|-22.2012	19.6223|19.6223	0.95663|0.95663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1621;1444;1621;1621|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	K|E	1621;1621;1621;1444;242;250|515	ENSP00000446132:E1621K;ENSP00000381007:E1621K;ENSP00000228327:E1621K;ENSP00000266692:E1444K;ENSP00000448303:E250K|.	ENSP00000228327:E1621K|.	E|G	+|+	1|2	0|0	NAV3|NAV3	77077189|77077189	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.997000|0.997000	0.91878|0.91878	9.063000|9.063000	0.93927|0.93927	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GAA|GGA	-	V3	-	NULL		0.378	NAV3-001	KNOWN	basic	protein_coding	V3	HGNC	protein_coding	OTTHUMT00000406812.1	0	0		56	56		0.00		G	NM_001024383		78553058	+1	29		42		tier1	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	40.85		SNP	1.000	A	29	42
LMBRD2	92255	genome.wustl.edu	37	5	36114598	36114598	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:36114598G>A	ENST00000296603.4	-	13	2030	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	523						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCAATAAAGGATAAAACTTT	0.284													ENSG00000164187																																					0													57.0	63.0	61.0					5																	36114598		2196	4284	6480	SO:0001583	missense	0			-		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1568C>T	5.37:g.36114598G>A	ENSP00000296603:p.Ser523Phe		B3KRB6|Q9NTC7	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.S523F	ENST00000296603.4	37	c.1568	CCDS34145.1	5	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969198	0.92855	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.34859	1.34	5.47	5.47	0.80525	LMBR1-like membrane protein (1);	0.048789	0.85682	D	0.000000	T	0.50616	0.1626	M	0.74258	2.255	0.80722	D	1	P	0.47106	0.89	P	0.47299	0.543	T	0.56341	-0.7995	10	0.66056	D	0.02	-9.3245	19.3362	0.94320	0.0:0.0:1.0:0.0	.	523	Q68DH5	LMBD2_HUMAN	F	523;417	ENSP00000296603:S523F	ENSP00000296603:S523F	S	-	2	0	LMBRD2	36150355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.227000	0.95236	2.568000	0.86640	0.655000	0.94253	TCC	-	LMBRD2	-	pfam_LMBR1-like_membr_prot		0.284	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	HGNC	protein_coding	OTTHUMT00000367552.1	0	0		155	155		0.00		G	NM_001007527		36114598	-1	55		121		tier1	no_errors	ENST00000296603	ensembl	human	known	74_37	missense	31.25		SNP	1.000	A	55	121
PCDHAC2	56134	genome.wustl.edu	37	5	140348419	140348419	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140348419G>A	ENST00000289269.5	+	1	2600	c.2068G>A	c.(2068-2070)Gac>Aac	p.D690N	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	690	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCTCCCTGACACTCAGAG	0.438													ENSG00000243232																									Melanoma(190;638 2083 3390 11909 52360)												0													76.0	72.0	73.0					5																	140348419		2203	4300	6503	SO:0001583	missense	0			-	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2068G>A	5.37:g.140348419G>A	ENSP00000289269:p.Asp690Asn		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D690N	ENST00000289269.5	37	c.2068	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263250	0.39995	.	.	ENSG00000243232	ENST00000289269	T	0.51574	0.7	5.91	5.91	0.95273	Cadherin (1);	0.000000	0.44285	D	0.000476	T	0.57140	0.2033	M	0.87547	2.89	0.52501	D	0.999955	B;B	0.31655	0.334;0.128	B;B	0.34346	0.18;0.03	T	0.61093	-0.7132	10	0.56958	D	0.05	.	14.4427	0.67327	0.07:0.0:0.93:0.0	.	690;690	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	N	690	ENSP00000289269:D690N	ENSP00000289269:D690N	D	+	1	0	PCDHAC2	140328603	1.000000	0.71417	0.982000	0.44146	0.827000	0.46813	5.358000	0.66064	2.794000	0.96219	0.655000	0.94253	GAC	-	PCDHAC2	-	pfscan_Cadherin		0.438	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	0	0		47	47		0.00		G	NM_018899		140348419	+1	11		49		tier1	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	17.74		SNP	0.999	A	11	49
NEAT1	283131	genome.wustl.edu	37	11	65211958	65211958	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65211958C>T	ENST00000384994.1	+	0	30					NR_030343.1				nuclear paraspeckle assembly transcript 1 (non-protein coding)																		GGCAGGGCTTCTGAGCTCCTT	0.632													ENSG00000245532																																					0													29.0	25.0	26.0					11																	65211958		1541	3543	5084			0			-	AF080092		11q13.1	2013-11-01	2009-07-24	2009-07-24	ENSG00000245532	ENSG00000245532		"""Long non-coding RNAs"", ""-"""	30815	non-coding RNA	RNA, long non-coding	"""trophoblast derived non-protein coding RNA"", ""nuclear enriched abundant transcript 1"", ""long intergenic non-protein coding RNA 84"", ""virus inducible non-coding RNA"""	612769	"""non-protein coding RNA 84"""	NCRNA00084		9253601, 9858482, 12565840	Standard	NR_028272		Approved	TncRNA, MENepsilon/beta, LINC00084, VINC	uc010rog.2		OTTHUMG00000166321		11.37:g.65211958C>T				R	SNP	-	NULL	ENST00000384994.1	37	NULL		11																																																																																			-	NEAT1	-	-		0.632	NEAT1-201	KNOWN	basic	miRNA	NEAT1	HGNC	lincRNA		0	0		57	57		0.00		C	NR_028272		65211958	+1	39		50		tier1	no_errors	ENST00000384994	ensembl	human	known	74_37	rna	42.86		SNP	0.034	T	39	50
CRTAC1	55118	genome.wustl.edu	37	10	99770920	99770920	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:99770920C>A	ENST00000370597.3	-	2	554	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	CRTAC1_ENST00000298819.4_Missense_Mutation_p.G67W|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G67W	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	67						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TCAAAGTCCCCATCATGGTCC	0.483													ENSG00000095713																																					0													156.0	128.0	138.0					10																	99770920		2203	4300	6503	SO:0001583	missense	0			-	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.199G>T	10.37:g.99770920C>A	ENSP00000359629:p.Gly67Trp		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.G67W	ENST00000370597.3	37	c.199	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951520	0.92660	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75892	-0.3157	10	0.87932	D	0	-26.4399	20.8794	0.99867	0.0:1.0:0.0:0.0	.	67;67	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	W	67;67;59;67	ENSP00000359629:G67W;ENSP00000298819:G67W;ENSP00000310810:G59W;ENSP00000359623:G67W	ENSP00000298819:G67W	G	-	1	0	CRTAC1	99760910	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.170000	0.77587	2.941000	0.99782	0.655000	0.94253	GGG	-	CRTAC1	-	NULL		0.483	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	0	0		48	48		0.00		C	NM_018058		99770920	-1	4		46		tier1	no_errors	ENST00000370597	ensembl	human	known	74_37	missense	8.00		SNP	1.000	A	4	46
PSMC2	5701	genome.wustl.edu	37	7	103008415	103008415	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:103008415G>C	ENST00000435765.1	+	13	1627	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.E406Q|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.E269Q	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	406					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)|ATP catabolic process (GO:0006200)|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)|osteoblast differentiation (GO:0001649)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATTGCTACCGAGAAGGATTT	0.423													ENSG00000161057																																					0													87.0	86.0	86.0					7																	103008415		2203	4300	6503	SO:0001583	missense	0			-	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1216G>C	7.37:g.103008415G>C	ENSP00000391211:p.Glu406Gln		A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E406Q	ENST00000435765.1	37	c.1216	CCDS5731.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482418	0.84747	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95035	-3.59;-3.59;-3.59	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	N	0.21142	0.635	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91494	0.5214	10	0.11485	T	0.65	-32.1839	19.3665	0.94464	0.0:0.0:1.0:0.0	.	406	P35998	PRS7_HUMAN	Q	406;406;269	ENSP00000391211:E406Q;ENSP00000292644:E406Q;ENSP00000445546:E269Q	ENSP00000292644:E406Q	E	+	1	0	PSMC2	102795651	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.747000	0.85070	2.573000	0.86826	0.644000	0.83932	GAG	-	PSMC2	-	superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45		0.423	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	HGNC	protein_coding	OTTHUMT00000347922.1	0	0		31	31		0.00		G	NM_002803		103008415	+1	23		27		tier1	no_errors	ENST00000292644	ensembl	human	known	74_37	missense	46.00		SNP	1.000	C	23	27
SELK	58515	genome.wustl.edu	37	3	53922480	53922480	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:53922480G>A	ENST00000495461.1	-	2	249	c.50C>T	c.(49-51)cCa>cTa	p.P17L	SELK_ENST00000541726.1_Missense_Mutation_p.P17L|SELK_ENST00000485414.1_5'UTR			Q9Y6D0	SELK_HUMAN		17					calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAATCTCCATGGAGACTGACT	0.378													ENSG00000113811																																					0													118.0	123.0	121.0					3																	53922480		2173	4283	6456	SO:0001583	missense	0			-																												ENST00000495461.1:c.50C>T	3.37:g.53922480G>A	ENSP00000418813:p.Pro17Leu		Q8IZQ3|Q9P085	Missense_Mutation	SNP	pfam_Se_SelK/SelG	p.P17L	ENST00000495461.1	37	c.50	CCDS54597.1	3	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173955	0.38413	.	.	ENSG00000113811	ENST00000495461;ENST00000541726	T;T	0.48836	0.8;0.8	5.74	4.76	0.60689	.	0.096626	0.64402	D	0.000001	T	0.23766	0.0575	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.11421	-1.0588	9	0.02654	T	1	0.2305	11.6683	0.51387	0.1165:0.0:0.8835:0.0	.	17	Q9Y6D0	SELK_HUMAN	L	17	ENSP00000418813:P17L;ENSP00000443164:P17L	ENSP00000417272:P17L	P	-	2	0	RP11-884K10.5	53897520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.319000	0.59197	2.717000	0.92951	0.655000	0.94253	CCA	-	SELK	-	pfam_Se_SelK/SelG		0.378	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELK	Uniprot_gn	protein_coding	OTTHUMT00000351659.1	0	0		59	59		0.00		G			53922480	-1	21		54		tier1	no_errors	ENST00000541726	ensembl	human	known	74_37	missense	28.00		SNP	1.000	A	21	54
PCDHA11	56138	genome.wustl.edu	37	5	140250308	140250308	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140250308C>T	ENST00000398640.2	+	1	1620	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGATGCGGGCGTGCCGCCTC	0.682													ENSG00000249158																																					0													71.0	79.0	76.0					5																	140250308		2202	4298	6500	SO:0001819	synonymous_variant	0			-	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1620C>T	5.37:g.140250308C>T			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G540	ENST00000398640.2	37	c.1620	CCDS47284.1	5																																																																																			-	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	0	0		79	79		0.00		C	NM_018902		140250308	+1	36		84		tier1	no_errors	ENST00000398640	ensembl	human	known	74_37	silent	30.00		SNP	0.146	T	36	84
OR6C6	283365	genome.wustl.edu	37	12	55688132	55688132	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55688132C>T	ENST00000358433.2	-	1	884	c.885G>A	c.(883-885)gtG>gtA	p.V295V		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	295						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)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACTTCTTTCACCTGCTGGT	0.343													ENSG00000188324																																					0													59.0	64.0	62.0					12																	55688132		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.885G>A	12.37:g.55688132C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V295	ENST00000358433.2	37	c.885	CCDS31817.1	12																																																																																			-	OR6C6	-	prints_GPCR_Rhodpsn		0.343	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	0	0		84	84		0.00		C			55688132	-1	11		59		tier1	no_errors	ENST00000358433	ensembl	human	known	74_37	silent	15.71		SNP	0.910	T	11	59
APOB	338	genome.wustl.edu	37	2	21235215	21235215	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:21235215G>A	ENST00000233242.1	-	26	4652	c.4525C>T	c.(4525-4527)Cct>Tct	p.P1509S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1509					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTGTTAGGATCCCTCTGA	0.468													ENSG00000084674																																					0													134.0	130.0	131.0					2																	21235215		2203	4300	6503	SO:0001583	missense	0			-	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4525C>T	2.37:g.21235215G>A	ENSP00000233242:p.Pro1509Ser		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P1509S	ENST00000233242.1	37	c.4525	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366734	0.24771	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00724	5.78	5.88	-7.27	0.01461	.	1.545270	0.03683	N	0.245872	T	0.00412	0.0013	N	0.03115	-0.41	0.09310	N	0.999996	B	0.12013	0.005	B	0.08055	0.003	T	0.49293	-0.8955	10	0.19147	T	0.46	.	5.5153	0.16904	0.4968:0.3002:0.1295:0.0736	.	1509	P04114	APOB_HUMAN	S	1509	ENSP00000233242:P1509S	ENSP00000233242:P1509S	P	-	1	0	APOB	21088720	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.847000	0.04331	-1.328000	0.02261	0.655000	0.94253	CCT	-	APOB	-	NULL		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	0	0		59	59		0.00		G			21235215	-1	36		76		tier1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	32.14		SNP	0.000	A	36	76
C18orf8	29919	genome.wustl.edu	37	18	21087017	21087017	+	Splice_Site	DEL	T	T	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:21087017delT	ENST00000269221.3	+	3	373	c.263delT	c.(262-264)gtg>gg	p.V88fs	C18orf8_ENST00000590868.1_Splice_Site_p.V89fs	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	88						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAAAGACTGTGGTAAGACTT	0.318													ENSG00000141452																																					0													137.0	148.0	145.0					18																	21087017		2203	4300	6503	SO:0001630	splice_region_variant	0				AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.264+1T>-	18.37:g.21087017delT			Q9BU17|Q9Y5M0	Frame_Shift_Del	DEL	pfam_Mic1,superfamily_WD40_repeat_dom	p.V88fs	ENST00000269221.3	37	c.263	CCDS32803.1	18																																																																																				C18orf8	-	superfamily_WD40_repeat_dom		0.318	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	HGNC	protein_coding	OTTHUMT00000445386.1	0	0		115	115		0.00		T	NM_013326	Frame_Shift_Del	21087017	+1	22		92		tier1	no_errors	ENST00000269221	ensembl	human	known	74_37	frame_shift_del	19.30		DEL	1.000	-	22	92
SKA3	221150	genome.wustl.edu	37	13	21732153	21732153	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:21732153C>T	ENST00000314759.5	-	7	1151	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	SKA3_ENST00000400018.3_Missense_Mutation_p.D343N	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	343					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAAGAGGGATCTGTTAAATTC	0.348													ENSG00000165480																																					0													127.0	137.0	133.0					13																	21732153		2203	4299	6502	SO:0001583	missense	0			-	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1027G>A	13.37:g.21732153C>T	ENSP00000319417:p.Asp343Asn		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	NULL	p.D343N	ENST00000314759.5	37	c.1027	CCDS31946.1	13	.	.	.	.	.	.	.	.	.	.	C	4.410	0.075848	0.08485	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.22743	1.94;1.94	5.98	4.25	0.50352	.	0.630018	0.16615	N	0.206731	T	0.11665	0.0284	N	0.17474	0.49	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.14578	0.011;0.011	T	0.23226	-1.0194	10	0.23302	T	0.38	-1.6435	7.2569	0.26181	0.0:0.7633:0.0:0.2367	.	343;343	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	N	343	ENSP00000319417:D343N;ENSP00000382896:D343N	ENSP00000319417:D343N	D	-	1	0	SKA3	20630153	0.008000	0.16893	0.017000	0.16124	0.036000	0.12997	0.936000	0.28938	1.547000	0.49401	0.591000	0.81541	GAT	-	SKA3	-	NULL		0.348	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKA3	HGNC	protein_coding	OTTHUMT00000272912.1	0	0		202	202		0.00		C	NM_145061		21732153	-1	28		154		tier1	no_errors	ENST00000314759	ensembl	human	known	74_37	missense	15.30		SNP	0.013	T	28	154
KIF1A	547	genome.wustl.edu	37	2	241659270	241659270	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:241659270G>A	ENST00000320389.7	-	44	4797	c.4639C>T	c.(4639-4641)Cct>Tct	p.P1547S	KIF1A_ENST00000498729.2_Missense_Mutation_p.P1648S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1547					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCAGGGGAAGGGAGCTTCTTG	0.677													ENSG00000130294																																					0													37.0	46.0	43.0					2																	241659270		2016	4183	6199	SO:0001583	missense	0			-	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4639C>T	2.37:g.241659270G>A	ENSP00000322791:p.Pro1547Ser		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1648S	ENST00000320389.7	37	c.4942	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446609	0.12223	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.10477	2.87;2.87	4.04	4.04	0.47022	.	0.336013	0.27739	U	0.018056	T	0.07413	0.0187	N	0.22421	0.69	0.20074	N	0.999931	B;B	0.31730	0.337;0.105	B;B	0.32624	0.149;0.036	T	0.32188	-0.9916	10	0.10377	T	0.69	.	12.9275	0.58268	0.0:0.0:0.8374:0.1626	.	1648;1547	F5H045;Q12756	.;KIF1A_HUMAN	S	1547;1648;1656	ENSP00000322791:P1547S;ENSP00000438388:P1648S	ENSP00000322791:P1547S	P	-	1	0	KIF1A	241307943	0.996000	0.38824	0.071000	0.20095	0.158000	0.22134	5.294000	0.65687	1.799000	0.52666	0.563000	0.77884	CCT	-	KIF1A	-	NULL		0.677	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	0	0		43	43		0.00		G	NM_138483		241659270	-1	14		30		tier1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	31.82		SNP	0.212	A	14	30
PPFIA3	8541	genome.wustl.edu	37	19	49649428	49649428	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49649428C>T	ENST00000334186.4	+	23	3163	c.2814C>T	c.(2812-2814)acC>acT	p.T938T	PPFIA3_ENST00000602351.1_Intron	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	938					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTCAGGAGACCAAGGAGATCA	0.652											OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000177380																																					0													42.0	43.0	43.0					19																	49649428		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2814C>T	19.37:g.49649428C>T		963	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T938	ENST00000334186.4	37	c.2814	CCDS12758.1	19																																																																																			-	PPFIA3	-	NULL		0.652	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	0	0		35	35		0.00		C	NM_003660		49649428	+1	8		45		tier1	no_errors	ENST00000334186	ensembl	human	known	74_37	silent	15.09		SNP	1.000	T	8	45
GPR78	27201	genome.wustl.edu	37	4	8588896	8588896	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:8588896C>T	ENST00000382487.4	+	3	1315	c.898C>T	c.(898-900)Ccg>Tcg	p.P300S	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	300					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCTCCGCCGGCCGTTCCGCCA	0.662													ENSG00000155269																																					0													39.0	41.0	41.0					4																	8588896		2203	4297	6500	SO:0001583	missense	0			-	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.898C>T	4.37:g.8588896C>T	ENSP00000371927:p.Pro300Ser		Q8NGV3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P300S	ENST00000382487.4	37	c.898	CCDS3403.1	4	.	.	.	.	.	.	.	.	.	.	C	4.480	0.088937	0.08583	.	.	ENSG00000155269	ENST00000382487	T	0.36340	1.26	3.25	1.39	0.22231	.	0.257080	0.32231	N	0.006400	T	0.17408	0.0418	N	0.08118	0	0.20873	N	0.999837	B	0.02656	0.0	B	0.01281	0.0	T	0.15549	-1.0433	10	0.37606	T	0.19	.	9.4467	0.38701	0.0:0.7612:0.1453:0.0935	.	300	Q96P69	GPR78_HUMAN	S	300	ENSP00000371927:P300S	ENSP00000371927:P300S	P	+	1	0	GPR78	8639796	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	2.361000	0.44160	-0.402000	0.07633	-0.797000	0.03246	CCG	-	GPR78	-	prints_GPCR_Rhodpsn		0.662	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1	0	0		109	109		0.00		C			8588896	+1	82		122		tier1	no_errors	ENST00000382487	ensembl	human	known	74_37	missense	40.20		SNP	1.000	T	82	122
PDE12	201626	genome.wustl.edu	37	3	57543205	57543205	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:57543205G>A	ENST00000311180.8	+	1	1202	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PDE12_ENST00000487257.1_Missense_Mutation_p.A367T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	367					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CGCCCTAGAGGCCTTCGGGCT	0.542													ENSG00000174840																									Colon(125;308 1634 19198 50622 50717)												0													46.0	48.0	47.0					3																	57543205		2203	4300	6503	SO:0001583	missense	0			-	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1099G>A	3.37:g.57543205G>A	ENSP00000309142:p.Ala367Thr		B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.A367T	ENST00000311180.8	37	c.1099	CCDS33772.1	3	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768437	0.49680	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.80480	-1.38;-1.38	5.42	5.42	0.78866	Endonuclease/exonuclease/phosphatase (2);	0.100986	0.64402	D	0.000002	T	0.77785	0.4182	L	0.40543	1.245	0.54753	D	0.999986	P;B	0.37548	0.599;0.232	P;B	0.45167	0.472;0.113	T	0.72763	-0.4195	10	0.16896	T	0.51	-18.3694	14.7807	0.69764	0.0:0.144:0.856:0.0	.	367;367	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	T	367	ENSP00000420626:A367T;ENSP00000309142:A367T	ENSP00000309142:A367T	A	+	1	0	PDE12	57518245	1.000000	0.71417	0.999000	0.59377	0.432000	0.31715	7.425000	0.80255	2.545000	0.85829	0.655000	0.94253	GCC	-	PDE12	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.542	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	0	0		33	33		0.00		G	NM_177966		57543205	+1	18		38		tier1	no_errors	ENST00000311180	ensembl	human	known	74_37	missense	32.14		SNP	1.000	A	18	38
DHDH	27294	genome.wustl.edu	37	19	49442736	49442736	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49442736G>A	ENST00000221403.2	+	4	437	c.397G>A	c.(397-399)Gag>Aag	p.E133K	DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Missense_Mutation_p.E133K	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	133					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TCCTGCCTCCGAGGCTCTGAG	0.567													ENSG00000104808																																					0													87.0	90.0	89.0					19																	49442736		2203	4300	6503	SO:0001583	missense	0			-	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.397G>A	19.37:g.49442736G>A	ENSP00000221403:p.Glu133Lys			Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.E133K	ENST00000221403.2	37	c.397	CCDS12741.1	19	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672909	0.29693	.	.	ENSG00000104808	ENST00000221403;ENST00000522614	T;T	0.21191	2.02;2.02	5.12	5.12	0.69794	NAD(P)-binding domain (1);	0.379942	0.29403	N	0.012241	T	0.14313	0.0346	L	0.28458	0.855	0.40433	D	0.979961	B	0.24963	0.115	B	0.10450	0.005	T	0.03829	-1.1000	10	0.06099	T	0.92	-22.156	16.4609	0.84044	0.0:0.0:1.0:0.0	.	133	Q9UQ10	DHDH_HUMAN	K	133	ENSP00000221403:E133K;ENSP00000428672:E133K	ENSP00000221403:E133K	E	+	1	0	DHDH	54134548	0.999000	0.42202	0.866000	0.34008	0.654000	0.38779	3.376000	0.52417	2.838000	0.97847	0.561000	0.74099	GAG	-	DHDH	-	NULL		0.567	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHDH	HGNC	protein_coding	OTTHUMT00000381477.1	0	0		49	49		0.00		G	NM_014475		49442736	+1	17		48		tier1	no_errors	ENST00000221403	ensembl	human	known	74_37	missense	26.15		SNP	0.988	A	17	48
ERICH6B	220081	genome.wustl.edu	37	13	46170969	46170969	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:46170969C>T	ENST00000298738.2	-	3	336	c.172G>A	c.(172-174)Gac>Aac	p.D58N		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		58	Glu-rich.									breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						TACTCTTTGTCCTCCAGAGAC	0.453													ENSG00000165837																																					0													155.0	124.0	133.0					13																	46170969		692	1591	2283	SO:0001583	missense	0			-																												ENST00000298738.2:c.172G>A	13.37:g.46170969C>T	ENSP00000298738:p.Asp58Asn		Q96MB5	Missense_Mutation	SNP	NULL	p.D58N	ENST00000298738.2	37	c.172	CCDS45045.1	13	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015262	0.35511	.	.	ENSG00000165837	ENST00000298738	T	0.07021	3.23	3.83	1.08	0.20341	.	.	.	.	.	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	1	P;P	0.46512	0.764;0.879	B;B	0.37144	0.242;0.242	T	0.37776	-0.9691	9	0.87932	D	0	.	7.7498	0.28890	0.0:0.6977:0.0:0.3023	.	58;58	A2VDI6;Q5W0A0	.;F194B_HUMAN	N	58	ENSP00000298738:D58N	ENSP00000298738:D58N	D	-	1	0	FAM194B	45068970	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.014000	0.12656	0.051000	0.15978	0.491000	0.48974	GAC	-	FAM194B	-	NULL		0.453	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194B	HGNC	protein_coding	OTTHUMT00000044781.3	0	0		74	74		0.00		C			46170969	-1	15		38		tier1	no_errors	ENST00000298738	ensembl	human	known	74_37	missense	28.30		SNP	0.001	T	15	38
C6	729	genome.wustl.edu	37	5	41149432	41149432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:41149432C>T	ENST00000263413.3	-	17	2798	c.2534G>A	c.(2533-2535)tGg>tAg	p.W845*	C6_ENST00000337836.5_Nonsense_Mutation_p.W845*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	845	C5b-binding domain.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCAAGACCCCATTCTAACTG	0.423													ENSG00000039537																																					0													163.0	157.0	159.0					5																	41149432		2203	4300	6503	SO:0001587	stop_gained	0			-	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2534G>A	5.37:g.41149432C>T	ENSP00000263413:p.Trp845*			Nonsense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.W845*	ENST00000263413.3	37	c.2534	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.269011	0.98735	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.85	4.98	0.66077	.	0.170934	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6593	15.3752	0.74598	0.0:0.932:0.0:0.068	.	.	.	.	X	845	.	ENSP00000263413:W845X	W	-	2	0	C6	41185189	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.131000	0.57970	2.768000	0.95171	0.655000	0.94253	TGG	-	C6	-	NULL		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	0	0		42	42		0.00		C			41149432	-1	8		71		tier1	no_errors	ENST00000263413	ensembl	human	known	74_37	nonsense	10.13		SNP	1.000	T	8	71
RGS12	6002	genome.wustl.edu	37	4	3319035	3319035	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:3319035C>T	ENST00000344733.5	+	2	2042	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	RGS12_ENST00000382788.3_Missense_Mutation_p.L380F|RGS12_ENST00000543385.1_Missense_Mutation_p.L380F|RGS12_ENST00000336727.3_Missense_Mutation_p.L380F	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	380					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGTCCTCCCTCCCCGTCCT	0.607													ENSG00000159788																																					0													72.0	68.0	70.0					4																	3319035		2203	4300	6503	SO:0001583	missense	0			-	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1138C>T	4.37:g.3319035C>T	ENSP00000339381:p.Leu380Phe		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.L380F	ENST00000344733.5	37	c.1138	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764888	0.31228	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.32023	1.47;1.58;1.58;1.58	4.73	3.66	0.41972	.	0.150652	0.44285	D	0.000478	T	0.38719	0.1051	M	0.72118	2.19	0.19300	N	0.999972	P;P;P	0.50443	0.82;0.893;0.935	P;B;P	0.49502	0.491;0.387;0.613	T	0.28933	-1.0028	10	0.59425	D	0.04	-27.8373	8.8305	0.35080	0.0:0.7539:0.0:0.2461	.	380;380;380	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	F	380	ENSP00000440566:L380F;ENSP00000339381:L380F;ENSP00000338509:L380F;ENSP00000372238:L380F	ENSP00000338509:L380F	L	+	1	0	RGS12	3288833	0.902000	0.30710	0.033000	0.17914	0.964000	0.63967	1.937000	0.40193	2.171000	0.68590	0.491000	0.48974	CTC	-	RGS12	-	NULL		0.607	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	0	0		39	39		0.00		C	NM_002926		3319035	+1	9		27		tier1	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	25.00		SNP	0.013	T	9	27
MUC16	94025	genome.wustl.edu	37	19	9068865	9068865	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9068865G>A	ENST00000397910.4	-	3	18784	c.18581C>T	c.(18580-18582)tCa>tTa	p.S6194L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6196	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						GGTTGTTTCTGAATCTACAAA	0.483													ENSG00000181143																																					0													96.0	99.0	98.0					19																	9068865		2074	4208	6282	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.18581C>T	19.37:g.9068865G>A	ENSP00000381008:p.Ser6194Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S6194L	ENST00000397910.4	37	c.18581	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.925	0.171783	0.09391	.	.	ENSG00000181143	ENST00000397910	T	0.32023	1.47	0.899	0.899	0.19271	.	.	.	.	.	T	0.37972	0.1023	L	0.43152	1.355	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.46925	-0.9156	8	0.87932	D	0	.	5.1134	0.14821	0.0:0.0:1.0:0.0	.	6194	B5ME49	.	L	6194	ENSP00000381008:S6194L	ENSP00000381008:S6194L	S	-	2	0	MUC16	8929865	0.078000	0.21339	0.003000	0.11579	0.002000	0.02628	1.981000	0.40628	0.786000	0.33708	0.385000	0.25706	TCA	-	MUC16	-	NULL		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0		81	81		0.00		G	NM_024690		9068865	-1	38		49		tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	43.18		SNP	0.009	A	38	49
SLC25A6	293	genome.wustl.edu	37	X	1508618	1508618	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:1508618G>A	ENST00000381401.5	-	2	828	c.114C>T	c.(112-114)gtC>gtT	p.V38V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	38					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGGCGTGCTGGACCTGGGGGA	0.587													ENSG00000169100																																					0													86.0	80.0	82.0					X																	1508618		2203	4296	6499	SO:0001819	synonymous_variant	0			-	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.114C>T	X.37:g.1508618G>A			Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.V38	ENST00000381401.5	37	c.114	CCDS14114.1	X																																																																																			-	SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.587	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	0	0		49	49		0.00		G	NM_001636		1508618	-1	46		65		tier1	no_errors	ENST00000381401	ensembl	human	known	74_37	silent	41.44		SNP	0.833	A	46	65
TRMT10A	93587	genome.wustl.edu	37	4	100480404	100480404	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:100480404G>A	ENST00000273962.3	-	2	404	c.92C>T	c.(91-93)cCa>cTa	p.P31L	TRMT10A_ENST00000394877.3_Missense_Mutation_p.P31L|TRMT10A_ENST00000394876.2_Missense_Mutation_p.P31L	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	31					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										ACCTAATCTTGGCTTCTGGCT	0.378													ENSG00000145331																																					0													250.0	228.0	236.0					4																	100480404		2203	4300	6503	SO:0001583	missense	0			-	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.92C>T	4.37:g.100480404G>A	ENSP00000273962:p.Pro31Leu		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tR_m1G_MeTrfase,pirsf_tR_MeTfrase_TRM10	p.P31L	ENST00000273962.3	37	c.92	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	G	8.919	0.960680	0.18583	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.47869	2.19;2.19;2.19;1.44;0.83	5.65	1.77	0.24775	.	1.818770	0.02563	N	0.097018	T	0.42040	0.1185	L	0.53249	1.67	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	10	0.44086	T	0.13	-0.3638	1.268	0.02015	0.2071:0.1124:0.3352:0.3453	.	31	Q8TBZ6	RG9D2_HUMAN	L	31	ENSP00000378343:P31L;ENSP00000273962:P31L;ENSP00000378342:P31L;ENSP00000397551:P31L;ENSP00000423628:P31L	ENSP00000273962:P31L	P	-	2	0	RG9MTD2	100699427	0.144000	0.22641	0.049000	0.19019	0.377000	0.30045	0.709000	0.25734	0.004000	0.14682	0.655000	0.94253	CCA	-	TRMT10A	-	pirsf_tR_MeTfrase_TRM10		0.378	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	0	0		67	67		0.00		G	NM_152292		100480404	-1	20		54		tier1	no_errors	ENST00000273962	ensembl	human	known	74_37	missense	27.03		SNP	0.004	A	20	54
ANK2	287	genome.wustl.edu	37	4	114262846	114262846	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:114262846T>C	ENST00000357077.4	+	33	3949	c.3896T>C	c.(3895-3897)tTc>tCc	p.F1299S	ANK2_ENST00000264366.6_Missense_Mutation_p.F1266S|ANK2_ENST00000506722.1_Missense_Mutation_p.F1290S|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000510275.2_5'Flank|ANK2_ENST00000394537.3_Missense_Mutation_p.F1299S|ANK2_ENST00000509550.1_Missense_Mutation_p.F475S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1299	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTAATAGGTTCTGGCTGATA	0.328													ENSG00000145362																																					0													96.0	101.0	100.0					4																	114262846		2203	4300	6503	SO:0001583	missense	0			-	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3896T>C	4.37:g.114262846T>C	ENSP00000349588:p.Phe1299Ser		Q01485|Q08AC7|Q08AC8|Q7Z3L5	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.F1299S	ENST00000357077.4	37	c.3896	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649585	0.87958	.	.	ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;1.61;1.61;-0.83	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000048	D	0.87896	0.6293	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.995;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.997;0.997;0.962;0.999;0.999	D	0.90089	0.4176	10	0.87932	D	0	.	15.6316	0.76912	0.0:0.0:0.0:1.0	.	475;1266;311;1299;1299;1290	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;ANK2_HUMAN;.;.;.;.	S	1212;1290;345;1314;1299;1299;1266;1290;475	ENSP00000421011:F1212S;ENSP00000421067:F1290S;ENSP00000424722:F1314S;ENSP00000378044:F1299S;ENSP00000349588:F1299S;ENSP00000264366:F1266S;ENSP00000426944:F475S	ENSP00000264366:F1266S	F	+	2	0	ANK2	114482295	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.040000	0.89188	2.091000	0.63221	0.402000	0.26972	TTC	-	ANK2	-	NULL		0.328	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	0	0		80	80		0.00		T	NM_001148		114262846	+1	18		57		tier1	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	24.00		SNP	1.000	C	18	57
ACADM	34	genome.wustl.edu	37	1	76198762	76198762	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:76198762G>A	ENST00000370841.4	+	4	723				ACADM_ENST00000543667.1_Intron|ACADM_ENST00000420607.2_Intron|ACADM_ENST00000370834.5_Missense_Mutation_p.A105T|ACADM_ENST00000541113.1_Intron	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain						cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	ACTTTTGGAAGCTTGCACTCT	0.393													ENSG00000117054																																					0													94.0	92.0	93.0					1																	76198762		876	1991	2867	SO:0001627	intron_variant	0			-	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.286+155G>A	1.37:g.76198762G>A			Q5T4U4|Q9NYF1	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A105T	ENST00000370841.4	37	c.313	CCDS668.1	1	.	.	.	.	.	.	.	.	.	.	G	8.190	0.795834	0.16327	.	.	ENSG00000117054	ENST00000370834	D	0.97430	-4.38	3.64	1.77	0.24775	.	1.982770	0.03742	U	0.255119	D	0.89750	0.6805	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.82384	-0.0484	9	0.87932	D	0	.	5.9372	0.19173	0.2396:0.0:0.7604:0.0	.	105	Q5T4U5	.	T	105	ENSP00000359871:A105T	ENSP00000359871:A105T	A	+	1	0	ACADM	75971350	0.017000	0.18338	0.003000	0.11579	0.024000	0.10985	0.223000	0.17719	0.539000	0.28788	0.591000	0.81541	GCT	-	ACADM	-	superfamily_AcylCoA_DH/oxidase_NM_dom		0.393	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	HGNC	protein_coding	OTTHUMT00000026967.1	0	0		48	48		0.00		G			76198762	+1	24		27		tier1	no_errors	ENST00000370834	ensembl	human	novel	74_37	missense	47.06		SNP	0.003	A	24	27
CLSTN2	64084	genome.wustl.edu	37	3	140178488	140178488	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140178488C>T	ENST00000458420.3	+	7	1289	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	RP11-68L1.1_ENST00000483759.2_RNA|RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	367					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCCAAAGTCCCCGATGGGAT	0.572										HNSCC(16;0.037)			ENSG00000158258																									GBM(45;858 913 3709 36904 37282)												0													82.0	70.0	74.0					3																	140178488		2203	4300	6503	SO:0001583	missense	0			-	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1099C>T	3.37:g.140178488C>T	ENSP00000402460:p.Pro367Ser		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P367S	ENST00000458420.3	37	c.1099	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541285	0.85917	.	.	ENSG00000158258	ENST00000458420	T	0.77098	-1.07	5.4	5.4	0.78164	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90211	0.4264	10	0.59425	D	0.04	-0.0453	16.6778	0.85284	0.0:1.0:0.0:0.0	.	367	Q9H4D0	CSTN2_HUMAN	S	367	ENSP00000402460:P367S	ENSP00000402460:P367S	P	+	1	0	CLSTN2	141661178	1.000000	0.71417	0.993000	0.49108	0.748000	0.42578	7.818000	0.86416	2.547000	0.85894	0.650000	0.86243	CCC	-	CLSTN2	-	superfamily_ConA-like_lec_gl_sf		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	0	0		71	71		0.00		C	NM_022131		140178488	+1	28		47		tier1	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	37.33		SNP	1.000	T	28	47
C14orf39	317761	genome.wustl.edu	37	14	60928072	60928072	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:60928072C>T	ENST00000321731.3	-	13	1276	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	373					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CGGCAAATACCTTTATCCCCT	0.299													ENSG00000179008																																					0													60.0	58.0	59.0					14																	60928072		2202	4299	6501	SO:0001630	splice_region_variant	0			-	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1117+1G>A	14.37:g.60928072C>T			Q08AQ4	Missense_Mutation	SNP	NULL	p.D373N	ENST00000321731.3	37	c.1117	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330683	0.81690	.	.	ENSG00000179008	ENST00000321731	T	0.31769	1.48	5.06	5.06	0.68205	.	0.085942	0.50627	D	0.000119	T	0.52661	0.1748	M	0.67953	2.075	0.35738	D	0.818454	D	0.89917	1.0	D	0.87578	0.998	T	0.62450	-0.6852	9	.	.	.	-14.3389	13.927	0.63968	0.0:1.0:0.0:0.0	.	373	Q8N1H7	S6OS1_HUMAN	N	373	ENSP00000324920:D373N	.	D	-	1	0	C14orf39	59997825	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.669000	0.46825	2.323000	0.78572	0.650000	0.86243	GAT	-	C14orf39	-	NULL		0.299	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	0	0		220	220		0.00		C	NM_174978	Missense_Mutation	60928072	-1	67		89		tier1	no_errors	ENST00000321731	ensembl	human	known	74_37	missense	42.68		SNP	1.000	T	67	89
HOXA3	3200	genome.wustl.edu	37	7	27149780	27149780	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:27149780T>A	ENST00000396352.4	-	2	679	c.480A>T	c.(478-480)aaA>aaT	p.K160N	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.K160N	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	160					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTCGAGACTCTTTCATCCAGG	0.567													ENSG00000105997																									Esophageal Squamous(136;1368 1743 5685 7935 50360)												0													115.0	115.0	115.0					7																	27149780		2203	4300	6503	SO:0001583	missense	0			-		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.480A>T	7.37:g.27149780T>A	ENSP00000379640:p.Lys160Asn		A4D181	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.K160N	ENST00000396352.4	37	c.480	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341969	0.61073	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	T;T	0.08282	3.11;3.11	5.83	-1.07	0.09968	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	M	0.89414	3.03	0.58432	D	0.999992	B	0.22541	0.071	B	0.15052	0.012	T	0.02991	-1.1085	10	0.87932	D	0	.	5.5913	0.17303	0.1132:0.2765:0.0:0.6102	.	160	O43365	HXA3_HUMAN	N	160;160;2	ENSP00000379640:K160N;ENSP00000324884:K160N	ENSP00000324884:K160N	K	-	3	2	HOXA3	27116305	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	1.536000	0.36072	-0.406000	0.07588	0.533000	0.62120	AAA	-	HOXA3	-	NULL		0.567	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	0	0		44	44		0.00		T			27149780	-1	12		37		tier1	no_errors	ENST00000317201	ensembl	human	known	74_37	missense	24.49		SNP	1.000	A	12	37
ACAD11	84129	genome.wustl.edu	37	3	132358400	132358400	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:132358400T>C	ENST00000264990.6	-	5	1609	c.638A>G	c.(637-639)gAc>gGc	p.D213G	ACAD11_ENST00000481970.2_Missense_Mutation_p.D213G|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.D213G	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	213					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						CTCTTCATTGTCATTATCGGG	0.403													ENSG00000240303																																					0													97.0	93.0	95.0					3																	132358400		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.638A>G	3.37:g.132358400T>C	ENSP00000264990:p.Asp213Gly		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.D213G	ENST00000264990.6	37	c.638	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793165	0.70452	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.30981	1.51;1.51;1.51	5.61	5.61	0.85477	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.58722	0.2142	M	0.81614	2.55	0.80722	D	1	P;D	0.71674	0.943;0.998	P;D	0.77004	0.867;0.989	T	0.64317	-0.6436	9	0.72032	D	0.01	.	15.8027	0.78468	0.0:0.0:0.0:1.0	.	213;213	D6RDI8;Q709F0	.;ACD11_HUMAN	G	213	ENSP00000347636:D213G;ENSP00000264990:D213G;ENSP00000420907:D213G	ENSP00000264990:D213G	D	-	2	0	ACAD11	133841090	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.359000	0.79477	2.129000	0.65627	0.459000	0.35465	GAC	-	ACAD11	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.403	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	0	0		58	58		0.00		T	NM_032169		132358400	-1	23		52		tier1	no_errors	ENST00000264990	ensembl	human	known	74_37	missense	30.67		SNP	1.000	C	23	52
ERI2	112479	genome.wustl.edu	37	16	20809073	20809073	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:20809073C>T	ENST00000357967.4	-	9	2091	c.2049G>A	c.(2047-2049)ttG>ttA	p.L683L	ERI2_ENST00000389345.5_Silent_p.L418L|ERI2_ENST00000563117.1_Silent_p.L590L|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000564349.1_Silent_p.L590L|ERI2_ENST00000569729.1_3'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	683							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						GCCTGAGTCTCAAAGAATTTT	0.363													ENSG00000196678																																					0													100.0	89.0	92.0					16																	20809073		692	1590	2282	SO:0001819	synonymous_variant	0			-	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.2049G>A	16.37:g.20809073C>T			Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Silent	SNP	pfam_Exonuclease_RNaseT/D_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L683	ENST00000357967.4	37	c.2049	CCDS45436.1	16																																																																																			-	ERI2	-	NULL		0.363	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	HGNC	protein_coding		0	0		101	101		0.00		C	NM_080663		20809073	-1	42		90		tier1	no_errors	ENST00000357967	ensembl	human	known	74_37	silent	31.58		SNP	0.956	T	42	90
PRKCE	5581	genome.wustl.edu	37	2	46231735	46231735	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:46231735G>A	ENST00000306156.3	+	8	1348	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	PRKCE_ENST00000394874.1_Missense_Mutation_p.E64K	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	341					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	ACCATCTGAGGAAGATCGATC	0.562													ENSG00000171132																																					0													51.0	54.0	53.0					2																	46231735		1933	3882	5815	SO:0001583	missense	0			-		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1021G>A	2.37:g.46231735G>A	ENSP00000306124:p.Glu341Lys		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.E341K	ENST00000306156.3	37	c.1021	CCDS1824.1	2	.	.	.	.	.	.	.	.	.	.	G	1.862	-0.462359	0.04508	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.67523	-0.27;0.49	5.06	4.19	0.49359	.	0.286327	0.32836	N	0.005585	T	0.41419	0.1158	N	0.08118	0	0.41232	D	0.986585	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	10	0.02654	T	1	.	13.5686	0.61832	0.0747:0.0:0.9253:0.0	.	341	Q02156	KPCE_HUMAN	K	341;64	ENSP00000306124:E341K;ENSP00000378341:E64K	ENSP00000306124:E341K	E	+	1	0	PRKCE	46085239	1.000000	0.71417	0.986000	0.45419	0.005000	0.04900	6.973000	0.76116	1.354000	0.45846	-0.136000	0.14681	GAA	-	PRKCE	-	pirsf_Prot_kin_PKC_delta		0.562	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	0	0		43	43		0.00		G			46231735	+1	17		34		tier1	no_errors	ENST00000306156	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	17	34
RXFP2	122042	genome.wustl.edu	37	13	32332464	32332464	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:32332464T>C	ENST00000298386.2	+	2	235	c.164T>C	c.(163-165)cTt>cCt	p.L55P	RXFP2_ENST00000380314.1_Missense_Mutation_p.L55P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	55	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGTGGGAATCTTACCAAGTGC	0.498													ENSG00000133105																																					0													170.0	159.0	162.0					13																	32332464		2203	4300	6503	SO:0001583	missense	0			-	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.164T>C	13.37:g.32332464T>C	ENSP00000298386:p.Leu55Pro		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.L55P	ENST00000298386.2	37	c.164	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055466	0.75960	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	D;D	0.90955	-2.76;-2.76	5.44	5.44	0.79542	.	0.392895	0.26939	N	0.021737	D	0.89894	0.6847	L	0.31752	0.955	0.58432	D	0.999999	P;P	0.51933	0.949;0.949	P;P	0.56865	0.808;0.808	D	0.88112	0.2826	10	0.27082	T	0.32	.	13.5018	0.61459	0.0:0.0:0.0:1.0	.	55;55	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	P	55	ENSP00000369670:L55P;ENSP00000298386:L55P	ENSP00000298386:L55P	L	+	2	0	RXFP2	31230464	0.817000	0.29147	0.901000	0.35422	0.994000	0.84299	4.964000	0.63701	2.073000	0.62155	0.524000	0.50904	CTT	-	RXFP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_Relaxin_rcpt		0.498	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	0	0		63	63		0.00		T	NM_130806		32332464	+1	14		43		tier1	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	24.56		SNP	0.984	C	14	43
ZNF233	353355	genome.wustl.edu	37	19	44777825	44777825	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44777825G>A	ENST00000391958.2	+	5	1139	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	ZNF233_ENST00000334152.1_Missense_Mutation_p.G320R|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	338					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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AGTCAGCACAGGAGAGAACCT	0.502													ENSG00000159915																																					0													82.0	76.0	78.0					19																	44777825		2203	4300	6503	SO:0001583	missense	0			-	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1012G>A	19.37:g.44777825G>A	ENSP00000375820:p.Gly338Arg		B2RN78|B2RN79|Q86WL8	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.G338R	ENST00000391958.2	37	c.1012	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	G	30	5.051838	0.93793	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.20738	2.05;2.05	4.45	4.45	0.53987	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37073	0.0990	L	0.46819	1.47	0.43390	D	0.9955	D	0.76494	0.999	P	0.61722	0.893	T	0.21552	-1.0242	9	0.87932	D	0	-2.474	16.217	0.82237	0.0:0.0:1.0:0.0	.	338	A6NK53	ZN233_HUMAN	R	320;338;259	ENSP00000334957:G320R;ENSP00000375820:G338R	ENSP00000280305:G259R	G	+	1	0	ZNF233	49469665	0.993000	0.37304	0.496000	0.27539	0.311000	0.27955	3.458000	0.53014	2.181000	0.69327	0.609000	0.83330	GGA	-	ZNF233	-	NULL		0.502	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	0	0		39	39		0.00		G	NM_181756		44777825	+1	9		39		tier1	no_errors	ENST00000391958	ensembl	human	known	74_37	missense	18.75		SNP	1.000	A	9	39
EPS8L3	79574	genome.wustl.edu	37	1	110306520	110306520	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110306520G>A	ENST00000361965.4	-	0	6				EPS8L3_ENST00000361852.4_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_5'UTR	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3							cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGCTGGTGGTGGAAGGACAGC	0.647													ENSG00000198758																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.-101C>T	1.37:g.110306520G>A			A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	R	SNP	-	NULL	ENST00000361965.4	37	NULL	CCDS814.1	1																																																																																			-	EPS8L3	-	-		0.647	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	0	0		101	101		0.00		G	NM_024526		110306520	-1	30		152		tier1	no_errors	ENST00000472325	ensembl	human	known	74_37	rna	16.48		SNP	0.000	A	30	152
SLC17A6	57084	genome.wustl.edu	37	11	22384297	22384297	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:22384297G>A	ENST00000263160.3	+	6	1111	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	225					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.G225K(1)|p.G225E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCCTATGCCGGAGCTGTGATT	0.398													ENSG00000091664																																					2	Substitution - Missense(2)	lung(1)|skin(1)											234.0	197.0	210.0					11																	22384297		2203	4300	6503	SO:0001583	missense	0			-	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.674G>A	11.37:g.22384297G>A	ENSP00000263160:p.Gly225Glu		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G225E	ENST00000263160.3	37	c.674	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424388	0.83667	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.77877	-1.13	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95459	0.8541	10	0.87932	D	0	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	225	Q9P2U8	VGLU2_HUMAN	E	225;113	ENSP00000263160:G225E	ENSP00000263160:G225E	G	+	2	0	SLC17A6	22340873	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	9.813000	0.99286	2.765000	0.95021	0.650000	0.86243	GGA	-	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	0	0		55	55		0.00		G	NM_020346		22384297	+1	15		35		tier1	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	30.00		SNP	1.000	A	15	35
ANKRD42	338699	genome.wustl.edu	37	11	82909572	82909572	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:82909572G>A	ENST00000393392.2	+	2	272	c.110G>A	c.(109-111)gGa>gAa	p.G37E	ANKRD42_ENST00000526731.1_Missense_Mutation_p.G37E|ANKRD42_ENST00000528722.1_5'UTR|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G37E|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G37E|ANKRD42_ENST00000393389.3_Missense_Mutation_p.G37E|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G37E	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	37					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GTACGAGCTGGAGATGTAAAG	0.388													ENSG00000137494																																					0													127.0	112.0	117.0					11																	82909572		2203	4300	6503	SO:0001583	missense	0			-	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.110G>A	11.37:g.82909572G>A	ENSP00000377051:p.Gly37Glu		Q49A49	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.G37E	ENST00000393392.2	37	c.110	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052441	0.75960	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T	0.72835	0.0;1.86;0.0;1.86;-0.65;-0.69	5.97	5.05	0.67936	Ankyrin repeat-containing domain (4);	0.095117	0.46442	D	0.000284	D	0.85741	0.5767	M	0.86268	2.805	0.40670	D	0.982207	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;0.998;0.998;0.998;1.0	D	0.88191	0.2877	9	.	.	.	-8.9551	16.8395	0.85964	0.0:0.1288:0.8712:0.0	.	37;37;302;128;37	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	E	356;37;37;37;37;37;37	ENSP00000377049:G37E;ENSP00000260047:G37E;ENSP00000433585:G37E;ENSP00000434666:G37E;ENSP00000377051:G37E;ENSP00000435790:G37E	.	G	+	2	0	ANKRD42	82587220	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.580000	0.74040	1.513000	0.48852	0.655000	0.94253	GGA	-	ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.388	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	0	0		66	66		0.00		G	NM_182603		82909572	+1	30		66		tier1	no_errors	ENST00000393392	ensembl	human	known	74_37	missense	31.25		SNP	1.000	A	30	66
DNMT3L	29947	genome.wustl.edu	37	21	45674502	45674502	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:45674502C>T	ENST00000418993.1	-	8	1174	c.691G>A	c.(691-693)Gat>Aat	p.D231N	DNMT3L_ENST00000270172.3_Missense_Mutation_p.D231N	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	231					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTACTCACATCCTTCCTCACT	0.567													ENSG00000142182																																					0													127.0	102.0	110.0					21																	45674502		2203	4299	6502	SO:0001583	missense	0			-	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.691G>A	21.37:g.45674502C>T	ENSP00000412862:p.Asp231Asn		E9PB42|Q9BUJ4	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.D231N	ENST00000418993.1	37	c.691	CCDS46650.1	21	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125963	0.20959	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.78364	-1.17;-1.17;-1.17	3.68	3.68	0.42216	.	0.127825	0.52532	D	0.000069	T	0.73885	0.3644	L	0.41356	1.27	0.33895	D	0.637839	P;P	0.45011	0.848;0.848	P;P	0.51777	0.679;0.679	T	0.73688	-0.3904	10	0.11182	T	0.66	-18.5806	11.1079	0.48214	0.0:1.0:0.0:0.0	.	231;231	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	N	231;231;216	ENSP00000270172:D231N;ENSP00000412862:D231N;ENSP00000400242:D216N	ENSP00000270172:D231N	D	-	1	0	DNMT3L	44498930	0.018000	0.18449	0.994000	0.49952	0.214000	0.24535	0.656000	0.24948	2.080000	0.62538	0.561000	0.74099	GAT	-	DNMT3L	-	NULL		0.567	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	HGNC	protein_coding	OTTHUMT00000195820.1	0	0		36	36		0.00		C	NM_013369		45674502	-1	19		45		tier1	no_errors	ENST00000270172	ensembl	human	known	74_37	missense	29.69		SNP	0.991	T	19	45
PIK3C2B	5287	genome.wustl.edu	37	1	204438496	204438496	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:204438496C>T	ENST00000367187.3	-	3	991	c.435G>A	c.(433-435)ggG>ggA	p.G145G	PIK3C2B_ENST00000424712.2_Silent_p.G145G	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	145	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCTCTATGTCCCCTGGTCCTG	0.582													ENSG00000133056																																					0													47.0	53.0	51.0					1																	204438496		2203	4300	6503	SO:0001819	synonymous_variant	0			-	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.435G>A	1.37:g.204438496C>T			O95666|Q5SW99	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.G145	ENST00000367187.3	37	c.435	CCDS1446.1	1																																																																																			-	PIK3C2B	-	NULL		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	0	0		26	26		0.00		C	NM_002646		204438496	-1	14		34		tier1	no_errors	ENST00000367187	ensembl	human	known	74_37	silent	29.17		SNP	0.001	T	14	34
HYKK	123688	genome.wustl.edu	37	15	78825620	78825620	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:78825620G>T	ENST00000569878.1	+	4	730	c.730G>T	c.(730-732)Gct>Tct	p.A244S	HYKK_ENST00000563233.1_Intron|HYKK_ENST00000408962.2_Intron|HYKK_ENST00000388988.4_Missense_Mutation_p.A244S			A2RU49	HYKK_HUMAN	hydroxylysine kinase	244						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										CTCTGGAAATGCTGAATATCA	0.363													ENSG00000188266																																					0													90.0	83.0	85.0					15																	78825620		1891	4113	6004	SO:0001583	missense	0			-	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.730G>T	15.37:g.78825620G>T	ENSP00000455459:p.Ala244Ser		B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.A244S	ENST00000569878.1	37	c.730	CCDS42063.1	15	.	.	.	.	.	.	.	.	.	.	G	3.544	-0.093033	0.07053	.	.	ENSG00000188266	ENST00000388988	T	0.29655	1.56	5.85	-1.01	0.10169	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.689830	0.14529	N	0.313974	T	0.12603	0.0306	N	0.17674	0.51	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.28650	-1.0037	10	0.09590	T	0.72	-0.7035	2.2294	0.03993	0.357:0.2233:0.3238:0.0959	.	244	A2RU49	AGPD1_HUMAN	S	244	ENSP00000373640:A244S	ENSP00000373640:A244S	A	+	1	0	AGPHD1	76612675	0.000000	0.05858	0.014000	0.15608	0.669000	0.39330	0.103000	0.15292	-0.138000	0.11434	-0.137000	0.14449	GCT	-	HYKK	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.363	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HYKK	HGNC	protein_coding	OTTHUMT00000435834.1	0	0		56	56		0.00		G	NM_001013619		78825620	+1	4		46		tier1	no_errors	ENST00000388988	ensembl	human	known	74_37	missense	8.00		SNP	0.000	T	4	46
PIK3R6	146850	genome.wustl.edu	37	17	8726794	8726794	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:8726794G>A	ENST00000311434.9	-	14	1775	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	512					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCACAGTCCGGGATGTGTCCA	0.522													ENSG00000174083																																					0													90.0	97.0	95.0					17																	8726794		1985	4182	6167	SO:0001819	synonymous_variant	0			-	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1536C>T	17.37:g.8726794G>A			Q658R3	Silent	SNP	pfam_PI3K_1B_gamma_p101_su	p.S512	ENST00000311434.9	37	c.1536		17																																																																																			-	PIK3R6	-	pfam_PI3K_1B_gamma_p101_su		0.522	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		0	0		72	72		0.00		G	NM_001010855		8726794	-1	27		76		tier1	no_errors	ENST00000311434	ensembl	human	known	74_37	silent	26.21		SNP	0.032	A	27	76
XYLT2	64132	genome.wustl.edu	37	17	48434521	48434521	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48434521C>T	ENST00000017003.2	+	9	1898	c.1849C>T	c.(1849-1851)Ccg>Tcg	p.P617S	XYLT2_ENST00000507602.1_Missense_Mutation_p.P617S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	617					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGCCCAGGGGCCGGCAGAGAC	0.647													ENSG00000015532																																					0													38.0	40.0	39.0					17																	48434521		2203	4300	6503	SO:0001583	missense	0			-	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1849C>T	17.37:g.48434521C>T	ENSP00000017003:p.Pro617Ser		Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.P617S	ENST00000017003.2	37	c.1849	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	5.405	0.259971	0.10239	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.38887	1.11;1.11	4.92	4.92	0.64577	.	0.557806	0.19335	N	0.116807	T	0.17109	0.0411	N	0.01048	-1.04	0.33714	D	0.616131	B	0.11235	0.004	B	0.17098	0.017	T	0.12066	-1.0562	10	0.10377	T	0.69	-18.1071	16.4828	0.84162	0.0:1.0:0.0:0.0	.	617	Q9H1B5	XYLT2_HUMAN	S	617	ENSP00000017003:P617S;ENSP00000426501:P617S	ENSP00000017003:P617S	P	+	1	0	XYLT2	45789520	0.227000	0.23707	1.000000	0.80357	0.972000	0.66771	0.732000	0.26072	2.560000	0.86352	0.655000	0.94253	CCG	-	XYLT2	-	pfam_XylT		0.647	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	0	0		94	94		0.00		C	NM_022167		48434521	+1	49		90		tier1	no_errors	ENST00000017003	ensembl	human	known	74_37	missense	35.25		SNP	0.941	T	49	90
PCDHB5	26167	genome.wustl.edu	37	5	140516693	140516693	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140516693C>T	ENST00000231134.5	+	1	1894	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTATC	0.716													ENSG00000113209																																					0													27.0	32.0	30.0					5																	140516693		2199	4295	6494	SO:0001819	synonymous_variant	0			-	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1677C>T	5.37:g.140516693C>T			Q549F4|Q9UFU9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F559	ENST00000231134.5	37	c.1677	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	C	1.468	-0.560605	0.03939	.	.	ENSG00000113209	ENST00000537936	.	.	.	4.42	2.51	0.30379	.	.	.	.	.	T	0.44746	0.1308	.	.	.	0.22701	N	0.998837	.	.	.	.	.	.	T	0.36114	-0.9761	5	0.62326	D	0.03	.	9.8594	0.41105	0.0:0.5253:0.3906:0.0841	.	.	.	.	L	343	.	ENSP00000446220:S343L	S	+	2	0	PCDHB5	140496877	0.000000	0.05858	1.000000	0.80357	0.484000	0.33280	-1.969000	0.01506	0.955000	0.37878	0.194000	0.17425	TCG	-	PCDHB5	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	0	0		75	75		0.00		C	NM_015669		140516693	+1	21		108		tier1	no_errors	ENST00000231134	ensembl	human	known	74_37	silent	16.15		SNP	0.353	T	21	108
SLIT3	6586	genome.wustl.edu	37	5	168244462	168244462	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:168244462G>A	ENST00000519560.1	-	8	1055	c.636C>T	c.(634-636)ctC>ctT	p.L212L	SLIT3_ENST00000332966.8_Silent_p.L212L|SLIT3_ENST00000404867.3_Silent_p.L212L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	212					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)			GGTTGGAGTGGAGGCGCCTGG	0.622													ENSG00000184347																									Ovarian(29;311 847 10864 17279 24903)												0													50.0	46.0	47.0					5																	168244462		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.636C>T	5.37:g.168244462G>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.L212	ENST00000519560.1	37	c.636	CCDS4369.1	5																																																																																			-	SLIT3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.622	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	0	0		47	47		0.00		G	NM_003062		168244462	-1	14		39		tier1	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	26.42		SNP	0.879	A	14	39
MASP1	5648	genome.wustl.edu	37	3	186954286	186954286	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:186954286G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000296280.6_Missense_Mutation_p.P458L|MASP1_ENST00000392472.2_Missense_Mutation_p.P345L|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAAGAGGCCAGGCTCAGCATT	0.602													ENSG00000127241																																					0													96.0	97.0	97.0					3																	186954286		2203	4300	6503	SO:0001627	intron_variant	0			-	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+4982C>T	3.37:g.186954286G>A			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.P458L	ENST00000337774.5	37	c.1373	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116684	0.37339	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541896	D;D	0.88975	-2.45;-2.45	6.07	5.19	0.71726	.	0.373338	0.31381	N	0.007743	T	0.80914	0.4715	N	0.20685	0.6	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.17433	0.018;0.005	T	0.74601	-0.3611	10	0.21014	T	0.42	.	13.5816	0.61907	0.0749:0.0:0.9251:0.0	.	345;458	P48740-4;P48740-2	.;.	L	458;345;345	ENSP00000296280:P458L;ENSP00000376264:P345L	ENSP00000296280:P458L	P	-	2	0	MASP1	188436980	1.000000	0.71417	0.911000	0.35937	0.821000	0.46438	7.564000	0.82326	1.549000	0.49425	0.655000	0.94253	CCT	-	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.602	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	0	0		41	41		0.00		G	NM_001879		186954286	-1	26		30		tier1	no_errors	ENST00000296280	ensembl	human	known	74_37	missense	46.43		SNP	1.000	A	26	30
LAD1	3898	genome.wustl.edu	37	1	201356224	201356224	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:201356224G>A	ENST00000391967.2	-	3	566	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	LAD1_ENST00000367313.3_Missense_Mutation_p.L103F	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	89						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CGTGTTCTGAGGATGCTCTGG	0.622													ENSG00000159166																																					0													41.0	39.0	40.0					1																	201356224		2203	4300	6503	SO:0001583	missense	0			-	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.265C>T	1.37:g.201356224G>A	ENSP00000375829:p.Leu89Phe		O95614|Q96GD8	Missense_Mutation	SNP	pirsf_Ladinin_1	p.L103F	ENST00000391967.2	37	c.307	CCDS1410.1	1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697322	0.68386	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.29397	1.65;1.57	4.96	4.96	0.65561	.	0.079354	0.51477	D	0.000087	T	0.51907	0.1702	M	0.67953	2.075	0.34933	D	0.74959	D;D	0.76494	0.998;0.999	D;D	0.71656	0.974;0.972	T	0.65076	-0.6256	10	0.56958	D	0.05	-13.7142	13.6891	0.62535	0.0:0.0:1.0:0.0	.	103;89	E9PDI4;O00515	.;LAD1_HUMAN	F	89;103	ENSP00000375829:L89F;ENSP00000356282:L103F	ENSP00000356282:L103F	L	-	1	0	LAD1	199622847	0.129000	0.22400	0.929000	0.37066	0.566000	0.35808	1.593000	0.36686	2.293000	0.77203	0.563000	0.77884	CTC	-	LAD1	-	pirsf_Ladinin_1		0.622	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	HGNC	protein_coding	OTTHUMT00000086946.1	0	0		26	26		0.00		G	NM_005558		201356224	-1	11		26		tier1	no_errors	ENST00000367313	ensembl	human	known	74_37	missense	29.73		SNP	0.978	A	11	26
LMOD2	442721	genome.wustl.edu	37	7	123296237	123296237	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:123296237G>A	ENST00000458573.2	+	1	377	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	LMOD2_ENST00000456238.2_Missense_Mutation_p.E74K	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	74	Glu-rich.					cytoskeleton (GO:0005856)											GGCCTATTGGGAAAAGGAGTC	0.552													ENSG00000170807																																					0													38.0	45.0	43.0					7																	123296237		1876	4099	5975	SO:0001583	missense	0			-	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.220G>A	7.37:g.123296237G>A	ENSP00000411932:p.Glu74Lys		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.E74K	ENST00000458573.2	37	c.220	CCDS47693.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.245164	0.95272	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.38401	1.14;1.14	5.67	5.67	0.87782	.	0.000000	0.35466	N	0.003195	T	0.63674	0.2531	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61466	-0.7057	10	0.40728	T	0.16	-13.3625	19.7629	0.96329	0.0:0.0:1.0:0.0	.	74	Q6P5Q4	LMOD2_HUMAN	K	74	ENSP00000411932:E74K;ENSP00000398975:E74K	ENSP00000405123:E74K	E	+	1	0	LMOD2	123083473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.666000	0.90696	0.561000	0.74099	GAA	-	LMOD2	-	pfam_Tropomodulin		0.552	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	0	0		87	87		0.00		G			123296237	+1	31		53		tier1	no_errors	ENST00000458573	ensembl	human	known	74_37	missense	36.90		SNP	1.000	A	31	53
SEC61B	10952	genome.wustl.edu	37	9	101992687	101992687	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:101992687G>A	ENST00000223641.4	+	4	335	c.272G>A	c.(271-273)gGc>gAc	p.G91D	SEC61B_ENST00000498603.1_Missense_Mutation_p.G37D	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit	91					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)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CACATTTGGGGCAAGTACACT	0.393													ENSG00000106803																																					0													273.0	250.0	258.0					9																	101992687		2203	4299	6502	SO:0001583	missense	0			-	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354	ENST00000223641.4:c.272G>A	9.37:g.101992687G>A	ENSP00000223641:p.Gly91Asp		P38390|P38391|Q6IBC1	Missense_Mutation	SNP	pfam_SecG/Sec61-beta/Sbh1,pirsf_SecG/Sec61-beta/Sbh1	p.G91D	ENST00000223641.4	37	c.272	CCDS6741.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.258844	0.95368	.	.	ENSG00000106803	ENST00000223641	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84946	0.0868	8	0.87932	D	0	.	19.7125	0.96102	0.0:0.0:1.0:0.0	.	91	P60468	SC61B_HUMAN	D	91	.	ENSP00000223641:G91D	G	+	2	0	SEC61B	101032508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.242000	0.95408	2.767000	0.95098	0.650000	0.86243	GGC	-	SEC61B	-	pfam_SecG/Sec61-beta/Sbh1,pirsf_SecG/Sec61-beta/Sbh1		0.393	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61B	HGNC	protein_coding	OTTHUMT00000053391.1	0	0		61	61		0.00		G	NM_006808		101992687	+1	34		60		tier1	no_errors	ENST00000223641	ensembl	human	known	74_37	missense	36.17		SNP	1.000	A	34	60
THEMIS2	9473	genome.wustl.edu	37	1	28208830	28208830	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:28208830C>T	ENST00000373921.3	+	4	999	c.995C>T	c.(994-996)cCc>cTc	p.P332L	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	332	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGGGAGTTCCCCACGGCCTAT	0.667													ENSG00000130775																																					0													16.0	20.0	19.0					1																	28208830		1966	4159	6125	SO:0001583	missense	0			-	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.995C>T	1.37:g.28208830C>T	ENSP00000363031:p.Pro332Leu		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	NULL	p.P332L	ENST00000373921.3	37	c.995	CCDS41290.1	1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323228	0.41096	.	.	ENSG00000130775	ENST00000442118;ENST00000373921	T;T	0.13901	2.55;2.55	5.23	4.27	0.50696	.	0.569455	0.21042	N	0.081149	T	0.20210	0.0486	L	0.53780	1.695	0.80722	D	1	P	0.38677	0.642	B	0.43225	0.412	T	0.01697	-1.1293	10	0.54805	T	0.06	-8.6836	15.4678	0.75416	0.1387:0.8613:0.0:0.0	.	332	Q5TEJ8	THMS2_HUMAN	L	195;332	ENSP00000413725:P195L;ENSP00000363031:P332L	ENSP00000363031:P332L	P	+	2	0	C1orf38	28081417	0.000000	0.05858	1.000000	0.80357	0.778000	0.44026	0.935000	0.28924	2.610000	0.88304	0.491000	0.48974	CCC	-	THEMIS2	-	NULL		0.667	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	0	0		94	94		0.00		C	NM_004848		28208830	+1	62		100		tier1	no_errors	ENST00000373921	ensembl	human	known	74_37	missense	38.04		SNP	0.966	T	62	100
TCHHL1	126637	genome.wustl.edu	37	1	152058561	152058561	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152058561C>T	ENST00000368806.1	-	3	1661	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	533							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCAGGGTCCTCCCCCTGGTAA	0.507													ENSG00000182898																																					0													131.0	120.0	124.0					1																	152058561		2203	4300	6503	SO:0001583	missense	0			-		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1597G>A	1.37:g.152058561C>T	ENSP00000357796:p.Glu533Lys		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.E533K	ENST00000368806.1	37	c.1597	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	18.11	3.551628	0.65311	.	.	ENSG00000182898	ENST00000368806	T	0.33654	1.4	5.45	-2.67	0.06059	.	0.781386	0.10838	N	0.628617	T	0.11922	0.0290	L	0.54323	1.7	0.09310	N	1	B	0.23316	0.083	B	0.26517	0.07	T	0.36792	-0.9733	10	0.30078	T	0.28	-1.4011	6.0549	0.19807	0.0:0.3304:0.1687:0.501	.	533	Q5QJ38	TCHL1_HUMAN	K	533	ENSP00000357796:E533K	ENSP00000357796:E533K	E	-	1	0	TCHHL1	150325185	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.382000	0.07408	-0.269000	0.09298	0.650000	0.86243	GAG	-	TCHHL1	-	NULL		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	0	0		38	38		0.00		C	XM_060104		152058561	-1	19		36		tier1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	34.55		SNP	0.000	T	19	36
IRF2BP2	359948	genome.wustl.edu	37	1	234742890	234742893	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	TCTC	TCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:234742890_234742893delTCTC	ENST00000366609.3	-	2	1784_1787	c.1754_1757delGAGA	c.(1753-1758)agagacfs	p.RD585fs	IRF2BP2_ENST00000366610.3_Frame_Shift_Del_p.RD569fs|IRF2BP2_ENST00000491430.1_5'Flank|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			AAGTCACGAGTCTCTCTCTTTTTT	0.402													ENSG00000168264																																					0																																										SO:0001589	frameshift_variant	0				AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1754_1757delGAGA	1.37:g.234742894_234742897delTCTC	ENSP00000355568:p.Arg585fs		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Frame_Shift_Del	DEL	pfam_Interferon_reg_fac2-bd1_2_Znf	p.R585fs	ENST00000366609.3	37	c.1757_1754	CCDS1602.1	1																																																																																				IRF2BP2	-	NULL		0.402	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	IRF2BP2	HGNC	protein_coding	OTTHUMT00000092705.1	0	0		64	64		0.00		TCTC	NM_182972		234742893	-1	23		61		tier1	no_errors	ENST00000366609	ensembl	human	novel	74_37	frame_shift_del	27.38		DEL	1.000:1.000:1.000:1.000	-	23	61
PRB4	5545	genome.wustl.edu	37	12	11461538	11461538	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:11461538C>T	ENST00000535904.1	-	3	412	c.379G>A	c.(379-381)Gga>Aga	p.G127R	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000279575.1_Missense_Mutation_p.G127R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	148	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.		Missing (in allele M and allele S).			extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTGCCTCCTTGTGGGGGT	0.602										HNSCC(22;0.051)			ENSG00000230657																																					0													162.0	181.0	175.0					12																	11461538		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.379G>A	12.37:g.11461538C>T	ENSP00000442834:p.Gly127Arg		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.G127R	ENST00000535904.1	37	c.379	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	1.960	-0.439108	0.04636	.	.	ENSG00000230657	ENST00000279575;ENST00000535904	T;T	0.06068	3.35;3.35	0.796	-1.59	0.08453	.	.	.	.	.	T	0.08179	0.0204	M	0.79693	2.465	0.09310	N	1	B	0.23540	0.087	B	0.13407	0.009	T	0.33317	-0.9873	9	0.62326	D	0.03	.	2.3847	0.04363	0.0:0.4021:0.3234:0.2745	.	127	E9PAL0	.	R	127	ENSP00000279575:G127R;ENSP00000442834:G127R	ENSP00000279575:G127R	G	-	1	0	PRB4	11352805	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.157000	0.16402	-0.906000	0.03866	0.197000	0.17608	GGA	-	PRB4	-	NULL		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	0	0		74	74		0.00		C	NM_002723		11461538	-1	21		34		tier1	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	38.18		SNP	0.013	T	21	34
CYP2C18	1562	genome.wustl.edu	37	10	96495123	96495123	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:96495123G>A	ENST00000285979.6	+	9	1594	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Silent_p.K406K	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	465					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTGACCCAAAGGATATTGACA	0.493													ENSG00000108242																																					0													205.0	188.0	194.0					10																	96495123		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1395G>A	10.37:g.96495123G>A			B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.K465	ENST00000285979.6	37	c.1395	CCDS7435.1	10																																																																																			-	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.493	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	0	0		62	62		0.00		G	NM_000772		96495123	+1	18		69		tier1	no_errors	ENST00000285979	ensembl	human	known	74_37	silent	20.69		SNP	0.002	A	18	69
ZNF671	79891	genome.wustl.edu	37	19	58232718	58232718	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:58232718C>A	ENST00000317398.6	-	4	831	c.736G>T	c.(736-738)Ggt>Tgt	p.G246C	ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Missense_Mutation_p.G148C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTCTCCTACCTTTCCCACAT	0.527													ENSG00000083814																																					0													81.0	76.0	78.0					19																	58232718		2203	4300	6503	SO:0001583	missense	0			-		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.736G>T	19.37:g.58232718C>A	ENSP00000321848:p.Gly246Cys		A6NF07|Q9H5E9	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.G246C	ENST00000317398.6	37	c.736	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944750	0.02304	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.01647	4.74;4.71	1.43	-2.85	0.05734	.	.	.	.	.	T	0.00384	0.0012	N	0.00081	-2.22	0.09310	N	1	B	0.23591	0.088	B	0.16722	0.016	T	0.30534	-0.9975	9	0.02654	T	1	.	5.193	0.15220	0.154:0.6112:0.0:0.2348	.	246	Q8TAW3	ZN671_HUMAN	C	246;148	ENSP00000321848:G246C;ENSP00000338670:G148C	ENSP00000321848:G246C	G	-	1	0	ZNF671	62924530	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.350000	0.02624	-2.673000	0.00413	-1.583000	0.00853	GGT	-	ZNF671	-	NULL		0.527	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	0	0		35	35		0.00		C	NM_024833		58232718	-1	9		27		tier1	no_errors	ENST00000317398	ensembl	human	known	74_37	missense	25.00		SNP	0.000	A	9	27
AP2M1	1173	genome.wustl.edu	37	3	183897988	183897988	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183897988C>T	ENST00000292807.5	+	4	520	c.372C>T	c.(370-372)tcC>tcT	p.S124S	AP2M1_ENST00000411763.2_Silent_p.S149S|AP2M1_ENST00000439647.1_Silent_p.S124S|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.S124S	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACAGAATTCCGAGACAGGCG	0.512													ENSG00000161203																																					0													61.0	62.0	61.0					3																	183897988		1948	4143	6091	SO:0001819	synonymous_variant	0			-	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.372C>T	3.37:g.183897988C>T			A6NE12|D3DNT1|P20172|P53679	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.S124	ENST00000292807.5	37	c.372	CCDS43177.1	3																																																																																			-	AP2M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.512	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	0	0		58	58		0.00		C	NM_004068		183897988	+1	22		47		tier1	no_errors	ENST00000292807	ensembl	human	known	74_37	silent	31.88		SNP	0.050	T	22	47
MIEF1	54471	genome.wustl.edu	37	22	39909964	39909964	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:39909964C>T	ENST00000325301.2	+	6	1452	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	MIEF1_ENST00000404569.1_Missense_Mutation_p.P343L|MIEF1_ENST00000402881.1_Missense_Mutation_p.P343L	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	343					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										AGCCTGCGTCCCGCGGAGACG	0.627											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000100335																																					0													56.0	55.0	56.0					22																	39909964		2203	4300	6503	SO:0001583	missense	0			-	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1028C>T	22.37:g.39909964C>T	ENSP00000327124:p.Pro343Leu	889	Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.P343L	ENST00000325301.2	37	c.1028	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857674	0.32791	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.06849	3.25;3.25;3.25	6.07	6.07	0.98685	.	0.156902	0.64402	D	0.000018	T	0.07908	0.0198	L	0.34521	1.04	0.53688	D	0.999974	B;P	0.39352	0.042;0.669	B;B	0.34931	0.038;0.192	T	0.35549	-0.9784	10	0.29301	T	0.29	-15.8867	16.051	0.80763	0.0:0.8667:0.1333:0.0	.	343;343	Q9NQG6;B0QY95	MID51_HUMAN;.	L	343	ENSP00000385110:P343L;ENSP00000327124:P343L;ENSP00000385191:P343L	ENSP00000327124:P343L	P	+	2	0	SMCR7L	38239910	1.000000	0.71417	0.984000	0.44739	0.917000	0.54804	4.747000	0.62141	2.884000	0.98904	0.655000	0.94253	CCC	-	MIEF1	-	NULL		0.627	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF1	HGNC	protein_coding	OTTHUMT00000321325.1	0	0		48	48		0.00		C	NM_019008		39909964	+1	24		40		tier1	no_errors	ENST00000325301	ensembl	human	known	74_37	missense	37.50		SNP	0.995	T	24	40
COMMD9	29099	genome.wustl.edu	37	11	36310951	36310951	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:36310951C>T	ENST00000263401.5	-	1	28	c.12G>A	c.(10-12)ctG>ctA	p.L4L	COMMD9_ENST00000532705.1_Silent_p.L4L|COMMD9_ENST00000452374.2_Silent_p.L4L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	4										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTCCGCTGTCAGGGCAGCCA	0.627													ENSG00000110442																																					0													39.0	26.0	30.0					11																	36310951		2132	4125	6257	SO:0001819	synonymous_variant	0			-	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.12G>A	11.37:g.36310951C>T			E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	pfam_HCaRG	p.L4	ENST00000263401.5	37	c.12	CCDS7900.1	11																																																																																			-	COMMD9	-	NULL		0.627	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD9	HGNC	protein_coding	OTTHUMT00000389196.1	0	0		42	42		0.00		C	NM_014186		36310951	-1	8		31		tier1	no_errors	ENST00000263401	ensembl	human	known	74_37	silent	20.00		SNP	0.127	T	8	31
CLEC16A	23274	genome.wustl.edu	37	16	11133720	11133720	+	Missense_Mutation	SNP	C	C	A	rs200579398		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:11133720C>A	ENST00000409790.1	+	14	1877	c.1647C>A	c.(1645-1647)aaC>aaA	p.N549K	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.N531K	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATGAACAACGCTGCCCAGC	0.587													ENSG00000038532																																					1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											48.0	51.0	50.0					16																	11133720		2064	4200	6264	SO:0001583	missense	0			-	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1647C>A	16.37:g.11133720C>A	ENSP00000387122:p.Asn549Lys			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.N549K	ENST00000409790.1	37	c.1647	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	4.161	0.028423	0.08054	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.39592	1.07	5.29	-4.59	0.03400	.	0.396495	0.31427	N	0.007680	T	0.13030	0.0316	N	0.02539	-0.55	0.80722	D	1	B;B	0.17465	0.005;0.022	B;B	0.17433	0.009;0.018	T	0.15607	-1.0431	10	0.14656	T	0.56	-24.0164	9.3097	0.37895	0.1197:0.1409:0.0:0.7393	.	549;531	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	K	549;549;531	ENSP00000387122:N549K	ENSP00000386495:N531K	N	+	3	2	CLEC16A	11041221	0.140000	0.22579	0.968000	0.41197	0.995000	0.86356	-1.042000	0.03539	-0.644000	0.05465	-0.137000	0.14449	AAC	-	CLEC16A	-	NULL		0.587	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	0	0		44	44		0.00		C	NM_015226		11133720	+1	21		57		tier1	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	26.92		SNP	0.790	A	21	57
UNC13C	440279	genome.wustl.edu	37	15	54305772	54305772	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:54305772T>C	ENST00000260323.11	+	1	672	c.672T>C	c.(670-672)aaT>aaC	p.N224N	UNC13C_ENST00000537900.1_Silent_p.N224N|UNC13C_ENST00000545554.1_Silent_p.N224N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	224					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAGACAAATGCCCTGGAGC	0.428													ENSG00000137766																																					0													79.0	79.0	79.0					15																	54305772		1883	4101	5984	SO:0001819	synonymous_variant	0			-	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.672T>C	15.37:g.54305772T>C			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.N224	ENST00000260323.11	37	c.672	CCDS45264.1	15																																																																																			-	UNC13C	-	NULL		0.428	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	0	0		57	57		0.00		T	NM_173166		54305772	+1	19		17		tier1	no_errors	ENST00000260323	ensembl	human	known	74_37	silent	52.78		SNP	0.000	C	19	17
MICAL1	64780	genome.wustl.edu	37	6	109769155	109769155	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:109769155G>T	ENST00000358807.3	-	14	2178	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	MICAL1_ENST00000358577.3_Missense_Mutation_p.Q537K|MICAL1_ENST00000368952.4_Missense_Mutation_p.Q642K	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	623					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGGGAGGCCTGGCTGACAGGG	0.587													ENSG00000135596																																					0													34.0	35.0	35.0					6																	109769155		2203	4300	6503	SO:0001583	missense	0			-	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1867C>A	6.37:g.109769155G>T	ENSP00000351664:p.Gln623Lys		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.Q642K	ENST00000358807.3	37	c.1924	CCDS5076.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.869|6.869	0.529632|0.529632	0.13127|0.13127	.|.	.|.	ENSG00000135596|ENSG00000135596	ENST00000433205|ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	.|T;T;T	.|0.48201	.|0.82;0.82;0.84	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.497156	.|0.20430	.|N	.|0.092496	T|T	0.22551|0.22551	0.0544|0.0544	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.50943	.|0.839;0.94;0.435	.|B;P;B	.|0.47402	.|0.2;0.546;0.104	T|T	0.18840|0.18840	-1.0324|-1.0324	5|10	.|0.05620	.|T	.|0.96	.|.	14.7192|14.7192	0.69294|0.69294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|642;537;623	.|B7Z3R5;Q8TDZ2-2;Q8TDZ2	.|.;.;MICA1_HUMAN	Q|K	184|623;642;537;147	.|ENSP00000351664:Q623K;ENSP00000357948:Q642K;ENSP00000351385:Q537K	.|ENSP00000351385:Q537K	P|Q	-|-	2|1	0|0	MICAL1|MICAL1	109875848|109875848	0.196000|0.196000	0.23350|0.23350	0.060000|0.060000	0.19600|0.19600	0.399000|0.399000	0.30720|0.30720	2.796000|2.796000	0.47869|0.47869	2.544000|2.544000	0.85801|0.85801	0.561000|0.561000	0.74099|0.74099	CCA|CAG	-	MICAL1	-	NULL		0.587	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	0	0		47	47		0.00		G	NM_022765		109769155	-1	4		44		tier1	no_errors	ENST00000368952	ensembl	human	known	74_37	missense	8.33		SNP	0.044	T	4	44
PKDCC	91461	genome.wustl.edu	37	2	42281194	42281194	+	Missense_Mutation	SNP	C	C	T	rs138808294		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:42281194C>T	ENST00000294964.5	+	3	961	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						GAGCCTGGGCCGCCTCCTCCA	0.627													ENSG00000162878																																					0								C	CYS/ARG	0,4406		0,0,2203	64.0	69.0	67.0		781	5.1	1.0	2	dbSNP_134	67	3,8597	3.0+/-9.4	0,3,4297	yes	missense	PKDCC	NM_138370.2	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	261/494	42281194	3,13003	2203	4300	6503	SO:0001583	missense	0			-		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.781C>T	2.37:g.42281194C>T	ENSP00000294964:p.Arg261Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.R261C	ENST00000294964.5	37	c.781	CCDS33186.2	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166441	0.78339	0.0	3.49E-4	ENSG00000162878	ENST00000294964	.	.	.	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.80799	-0.1221	9	0.72032	D	0.01	-22.7271	17.4887	0.87696	0.0:1.0:0.0:0.0	.	261	Q504Y2	PKDCC_HUMAN	C	261	.	ENSP00000294964:R261C	R	+	1	0	PKDCC	42134698	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.700000	0.68318	2.367000	0.80283	0.561000	0.74099	CGC	rs138808294	PKDCC	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom		0.627	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	HGNC	protein_coding	OTTHUMT00000325745.3	0	0		43	43		0.00		C			42281194	+1	19		39		tier1	no_errors	ENST00000294964	ensembl	human	known	74_37	missense	32.76		SNP	1.000	T	19	39
TET3	200424	genome.wustl.edu	37	2	74315101	74315101	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:74315101G>A	ENST00000409262.3	+	4	2419	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	807					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTCTACCAGGAGCTCACCGA	0.647													ENSG00000187605																																					0													22.0	28.0	26.0					2																	74315101		2052	4194	6246	SO:0001583	missense	0			-		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2419G>A	2.37:g.74315101G>A	ENSP00000386869:p.Glu807Lys		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.E807K	ENST00000409262.3	37	c.2419	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.397083	0.96009	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.38722	1.12	4.9	4.9	0.64082	TET cysteine-rich domain (1);	0.111275	0.64402	D	0.000013	T	0.60779	0.2295	L	0.59436	1.845	0.58432	D	0.999998	D	0.76494	0.999	D	0.68765	0.96	T	0.62277	-0.6888	10	0.62326	D	0.03	.	17.3702	0.87374	0.0:0.0:1.0:0.0	.	807	O43151	TET3_HUMAN	K	807	ENSP00000386869:E807K	ENSP00000233310:E807K	E	+	1	0	TET3	74168609	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.543000	0.98089	2.698000	0.92095	0.650000	0.86243	GAG	-	TET3	-	NULL		0.647	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	0	0		97	97		0.00		G			74315101	+1	46		76		tier1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	37.70		SNP	1.000	A	46	76
GNA11	2767	genome.wustl.edu	37	19	3094702	3094702	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3094702C>T	ENST00000078429.4	+	1	295	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	18					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGAAGGAGTCCAAGCGGATC	0.721			Mis		uveal melanoma								ENSG00000088256																												Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0													23.0	24.0	24.0					19																	3094702		2198	4300	6498	SO:0001583	missense	0			-	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.53C>T	19.37:g.3094702C>T	ENSP00000078429:p.Ser18Phe		O15109|Q14350|Q6IB00	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_Q,prints_Fungi_Gprotein_alpha	p.S18F	ENST00000078429.4	37	c.53	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	24.1	4.490105	0.84962	.	.	ENSG00000088256	ENST00000078429	D	0.89050	-2.46	3.3	3.3	0.37823	.	0.000000	0.53938	U	0.000050	D	0.88081	0.6341	L	0.59912	1.85	0.47698	D	0.999496	P	0.37176	0.586	B	0.42495	0.389	D	0.89142	0.3517	10	0.87932	D	0	.	12.4012	0.55414	0.0:1.0:0.0:0.0	.	18	P29992	GNA11_HUMAN	F	18	ENSP00000078429:S18F	ENSP00000078429:S18F	S	+	2	0	GNA11	3045702	0.363000	0.24989	0.998000	0.56505	0.942000	0.58702	4.911000	0.63328	1.558000	0.49541	0.305000	0.20034	TCC	-	G11	-	pfam_Gprotein_alpha_su,prints_Gprotein_alpha_Q		0.721	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G11	HGNC	protein_coding	OTTHUMT00000452261.2	0	0		17	17		0.00		C	NM_002067		3094702	+1	20		19		tier1	no_errors	ENST00000078429	ensembl	human	known	74_37	missense	51.28		SNP	1.000	T	20	19
REXO1L1P	254958	genome.wustl.edu	37	8	86575311	86575311	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:86575311G>A	ENST00000379010.2	-	1	415	c.416C>T	c.(415-417)cCc>cTc	p.P139L		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						GTGCATCTGGGGCACCCAGAG	0.647													ENSG00000205176																																					0													1.0	1.0	1.0					8																	86575311		140	729	869	SO:0001583	missense	0			-																												ENST00000379010.2:c.416C>T	8.37:g.86575311G>A	ENSP00000368295:p.Pro139Leu			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.P139L	ENST00000379010.2	37	c.416		8	.	.	.	.	.	.	.	.	.	.	G	7.558	0.664053	0.14710	.	.	ENSG00000205176	ENST00000379010	T	0.26957	1.7	0.404	0.404	0.16355	.	.	.	.	.	T	0.13798	0.0334	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.28996	-1.0026	6	0.87932	D	0	.	.	.	.	.	.	.	.	L	139	ENSP00000368295:P139L	ENSP00000368295:P139L	P	-	2	0	REXO1L1	86762563	0.075000	0.21258	0.005000	0.12908	0.029000	0.11900	1.125000	0.31332	0.460000	0.27045	0.194000	0.17425	CCC	-	REXO1L1	-	NULL		0.647	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	REXO1L1	HGNC	protein_coding	OTTHUMT00000381106.1	0	0		34	34		0.00		G			86575311	-1	11		38		tier1	no_errors	ENST00000379010	ensembl	human	putative	74_37	missense	22.00		SNP	0.005	A	11	38
C2orf71	388939	genome.wustl.edu	37	2	29294164	29294164	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:29294164G>A	ENST00000331664.5	-	1	2963	c.2964C>T	c.(2962-2964)ccC>ccT	p.P988P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	988					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCCCACAGGGGGGCTTCTCT	0.637													ENSG00000179270																																					0													38.0	42.0	41.0					2																	29294164		1909	4111	6020	SO:0001819	synonymous_variant	0			-		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2964C>T	2.37:g.29294164G>A				Silent	SNP	NULL	p.P988	ENST00000331664.5	37	c.2964	CCDS42669.1	2																																																																																			-	C2orf71	-	NULL		0.637	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	0	0		40	40		0.00		G	NM_001029883		29294164	-1	17		42		tier1	no_errors	ENST00000331664	ensembl	human	known	74_37	silent	28.81		SNP	0.011	A	17	42
RAI1	10743	genome.wustl.edu	37	17	17701767	17701767	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:17701767C>T	ENST00000353383.1	+	3	5974	c.5505C>T	c.(5503-5505)gtC>gtT	p.V1835V	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1835					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCGGCGGCGTCTACCTGGTGG	0.677													ENSG00000108557																																					0													21.0	21.0	21.0					17																	17701767		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5505C>T	17.37:g.17701767C>T			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	smart_Znf_PHD	p.V1835	ENST00000353383.1	37	c.5505	CCDS11188.1	17																																																																																			-	RAI1	-	NULL		0.677	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	0	0		34	34		0.00		C	NM_030665		17701767	+1	15		45		tier1	no_errors	ENST00000353383	ensembl	human	known	74_37	silent	25.00		SNP	1.000	T	15	45
IGFBP4	3487	genome.wustl.edu	37	17	38610308	38610308	+	Silent	SNP	C	C	T	rs367907472		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:38610308C>T	ENST00000269593.4	+	3	911	c.636C>T	c.(634-636)ccC>ccT	p.P212P	IGFBP4_ENST00000542955.1_Silent_p.P112P	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	212	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACTTCCACCCCAAGCAGGTGG	0.647													ENSG00000141753																									GBM(160;940 3581 26177)												0													112.0	106.0	108.0					17																	38610308		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.636C>T	17.37:g.38610308C>T			A0N9W2|B4E351|Q5U012|Q9UCL6	Silent	SNP	pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-4	p.P212	ENST00000269593.4	37	c.636	CCDS11367.1	17																																																																																			-	IGFBP4	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata		0.647	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBP4	HGNC	protein_coding	OTTHUMT00000257134.1	0	0		44	44		0.00		C	NM_001552		38610308	+1	15		38		tier1	no_errors	ENST00000269593	ensembl	human	known	74_37	silent	28.30		SNP	1.000	T	15	38
TGFB1	7040	genome.wustl.edu	37	19	41854266	41854266	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41854266G>A	ENST00000221930.5	-	2	1316	c.450C>T	c.(448-450)ctC>ctT	p.L150L	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	150	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CTGCCCGGGAGAGCAACACGG	0.512													ENSG00000105329																																					0													133.0	122.0	126.0					19																	41854266		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.450C>T	19.37:g.41854266G>A			A8K792|Q9UCG4	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta	p.L150	ENST00000221930.5	37	c.450	CCDS33031.1	19																																																																																			-	TGFB1	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_TGFb1		0.512	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB1	HGNC	protein_coding	OTTHUMT00000463500.2	0	0		55	55		0.00		G			41854266	-1	13		35		tier1	no_errors	ENST00000221930	ensembl	human	known	74_37	silent	27.08		SNP	0.751	A	13	35
FCRL5	83416	genome.wustl.edu	37	1	157504547	157504547	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157504547G>A	ENST00000361835.3	-	8	1695	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	FCRL5_ENST00000356953.4_Missense_Mutation_p.P513L|FCRL5_ENST00000368191.3_Missense_Mutation_p.P428L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P513L|FCRL5_ENST00000368189.3_Missense_Mutation_p.P513L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	513	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCTCCACAGGGGCATGTCCTC	0.507													ENSG00000143297																																					0													62.0	62.0	62.0					1																	157504547		2203	4300	6503	SO:0001583	missense	0			-	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1538C>T	1.37:g.157504547G>A	ENSP00000354691:p.Pro513Leu		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P513L	ENST00000361835.3	37	c.1538	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	0.165	-1.077667	0.01903	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	3.54	-7.08	0.01558	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01454	0.0047	N	0.16098	0.37	0.09310	N	1	B;B;B;B;B;B	0.17667	0.023;0.008;0.002;0.005;0.017;0.009	B;B;B;B;B;B	0.25291	0.059;0.023;0.01;0.003;0.01;0.012	T	0.47156	-0.9139	9	0.27785	T	0.31	.	7.7222	0.28740	0.7107:0.1251:0.1642:0.0	.	544;428;513;513;513;513	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	L	513;513;513;428;513	ENSP00000354691:P513L;ENSP00000349434:P513L;ENSP00000357173:P513L;ENSP00000357174:P428L;ENSP00000357172:P513L	ENSP00000349434:P513L	P	-	2	0	FCRL5	155771171	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.177000	0.03096	-1.845000	0.01176	0.313000	0.20887	CCC	-	FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	0	0		33	33		0.00		G	NM_031281		157504547	-1	14		49		tier1	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	22.22		SNP	0.000	A	14	49
SVIL	6840	genome.wustl.edu	37	10	29839542	29839542	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:29839542G>A	ENST00000355867.4	-	6	1563	c.811C>T	c.(811-813)Cct>Tct	p.P271S	SVIL_ENST00000375400.3_Missense_Mutation_p.P271S|SVIL_ENST00000375398.2_Missense_Mutation_p.P271S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	271					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.P271T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGGGCCTCAGGGGATAGCTGT	0.597													ENSG00000197321																																					1	Substitution - Missense(1)	lung(1)											28.0	34.0	32.0					10																	29839542		2198	4295	6493	SO:0001583	missense	0			-	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.811C>T	10.37:g.29839542G>A	ENSP00000348128:p.Pro271Ser		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.P271S	ENST00000355867.4	37	c.811	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.127046	0.01770	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.39406	1.3;1.08;1.08	5.28	-10.6	0.00265	.	1.495500	0.03578	N	0.229639	T	0.10078	0.0247	N	0.00841	-1.15	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.15065	-1.0450	9	.	.	.	0.0923	3.4662	0.07550	0.135:0.1583:0.1881:0.5186	.	271;271	O95425-2;O95425	.;SVIL_HUMAN	S	271	ENSP00000364549:P271S;ENSP00000364547:P271S;ENSP00000348128:P271S	.	P	-	1	0	SVIL	29879548	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.608000	0.02068	-3.239000	0.00207	-2.033000	0.00422	CCT	-	SVIL	-	NULL		0.597	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	0	0		78	78		0.00		G			29839542	-1	42		58		tier1	no_errors	ENST00000355867	ensembl	human	known	74_37	missense	42.00		SNP	0.000	A	42	58
APOBEC3B	9582	genome.wustl.edu	37	22	39388229	39388229	+	Intron	SNP	C	C	T	rs572392139	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:39388229C>T	ENST00000333467.3	+	7	1179				APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Silent_p.P403P|APOBEC3B_ENST00000407298.3_Intron	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B						defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					cttgccttcccctctgctcag	0.682													ENSG00000179750																																					0																																										SO:0001627	intron_variant	0			-	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.1134+75C>T	22.37:g.39388229C>T			B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.P403	ENST00000333467.3	37	c.1209	CCDS13982.1	22																																																																																			-	APOBEC3B	-	NULL		0.682	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	HGNC	protein_coding	OTTHUMT00000321233.1	0	0		40	40		0.00		C	NM_004900		39388229	+1	14		46		tier1	no_errors	ENST00000402182	ensembl	human	putative	74_37	silent	23.33		SNP	0.001	T	14	46
VAV2	7410	genome.wustl.edu	37	9	136634551	136634551	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136634551G>A	ENST00000371850.3	-	28	2453	c.2422C>T	c.(2422-2424)Ccc>Tcc	p.P808S	VAV2_ENST00000371851.1_Missense_Mutation_p.P798S|VAV2_ENST00000406606.3_Intron	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	808					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)		GACCAGAAGGGAGCGGAGGGG	0.632													ENSG00000160293																																					0													47.0	46.0	46.0					9																	136634551		1564	3579	5143	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.2422C>T	9.37:g.136634551G>A	ENSP00000360916:p.Pro808Ser		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.P808S	ENST00000371850.3	37	c.2422	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406202	0.83230	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000325440	T;T	0.17213	2.29;2.29	4.29	4.29	0.51040	Src homology-3 domain (1);	0.000000	0.64402	D	0.000002	T	0.28928	0.0718	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03060	-1.1077	10	0.31617	T	0.26	.	15.7299	0.77792	0.0:0.0:1.0:0.0	.	808	P52735	VAV2_HUMAN	S	808;798;798	ENSP00000360916:P808S;ENSP00000360917:P798S	ENSP00000317258:P798S	P	-	1	0	VAV2	135624372	1.000000	0.71417	0.975000	0.42487	0.965000	0.64279	9.064000	0.93933	1.943000	0.56356	0.313000	0.20887	CCC	-	VAV2	-	superfamily_SH3_domain		0.632	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	0	0		56	56		0.00		G			136634551	-1	32		51		tier1	no_errors	ENST00000371850	ensembl	human	known	74_37	missense	38.55		SNP	1.000	A	32	51
GPR158	57512	genome.wustl.edu	37	10	25887658	25887658	+	Missense_Mutation	SNP	G	G	A	rs139042739	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:25887658G>A	ENST00000376351.3	+	11	3462	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1035					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTGGCTTCTGAAATGGAGAA	0.453													ENSG00000151025																																					0								G	LYS/GLU	7,4399	12.9+/-30.5	0,7,2196	68.0	67.0	68.0		3103	4.4	1.0	10	dbSNP_134	68	0,8600		0,0,4300	yes	missense	GPR158	NM_020752.2	56	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	1035/1216	25887658	7,12999	2203	4300	6503	SO:0001583	missense	0			-	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3103G>A	10.37:g.25887658G>A	ENSP00000365529:p.Glu1035Lys		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.E1035K	ENST00000376351.3	37	c.3103	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111290	0.56398	0.001589	0.0	ENSG00000151025	ENST00000376351	T	0.33865	1.39	5.27	4.37	0.52481	.	0.152932	0.44688	D	0.000438	T	0.38506	0.1043	M	0.66939	2.045	0.31578	N	0.655438	P	0.40834	0.73	B	0.38803	0.282	T	0.52801	-0.8527	10	0.49607	T	0.09	.	14.0565	0.64772	0.073:0.0:0.927:0.0	.	1035	Q5T848	GP158_HUMAN	K	1035	ENSP00000365529:E1035K	ENSP00000365529:E1035K	E	+	1	0	GPR158	25927664	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	6.778000	0.75043	1.198000	0.43158	0.655000	0.94253	GAA	rs139042739	GPR158	-	NULL		0.453	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	0	0		25	25		0.00		G	XM_166110		25887658	+1	9		19		tier1	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	32.14		SNP	1.000	A	9	19
GALNT14	79623	genome.wustl.edu	37	2	31133827	31133827	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:31133827G>A	ENST00000349752.5	-	15	2238	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	GALNT14_ENST00000356174.3_Silent_p.I500I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Silent_p.I498I|GALNT14_ENST00000324589.5_Silent_p.I538I|GALNT14_ENST00000406653.1_Silent_p.I513I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	533	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTGACGACGATTTCCTTGC	0.557													ENSG00000158089																																					0													195.0	154.0	168.0					2																	31133827		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1599C>T	2.37:g.31133827G>A			B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I533	ENST00000349752.5	37	c.1599	CCDS1773.2	2																																																																																			-	GALNT14	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.557	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	0	0		28	28		0.00		G	NM_024572		31133827	-1	7		33		tier1	no_errors	ENST00000349752	ensembl	human	known	74_37	silent	17.50		SNP	0.038	A	7	33
DNAH6	1768	genome.wustl.edu	37	2	84831570	84831570	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:84831570C>T	ENST00000237449.6	+	18	2984	c.2976C>T	c.(2974-2976)acC>acT	p.T992T	DNAH6_ENST00000398278.2_Silent_p.T992T|DNAH6_ENST00000389394.3_Silent_p.T992T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	992	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTCCATTAACCTTGGAGAGGC	0.438													ENSG00000115423																																					0													76.0	68.0	71.0					2																	84831570		692	1591	2283	SO:0001819	synonymous_variant	0			-	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2976C>T	2.37:g.84831570C>T			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T992	ENST00000237449.6	37	c.2976	CCDS46348.1	2																																																																																			-	DH6	-	pfam_Dynein_heavy_dom-2		0.438	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH6	HGNC	protein_coding	OTTHUMT00000328537.2	0	0		80	80		0.00		C	NM_001370		84831570	+1	21		75		tier1	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	21.88		SNP	1.000	T	21	75
PRDM10	56980	genome.wustl.edu	37	11	129827661	129827661	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:129827661G>A	ENST00000360871.3	-	3	445	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	PRDM10_ENST00000358825.5_Missense_Mutation_p.H72Y|PRDM10_ENST00000528746.1_Missense_Mutation_p.H72Y	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCCACCGGGTGGATGTACACC	0.488													ENSG00000170325																																					0													138.0	124.0	129.0					11																	129827661		2201	4297	6498	SO:0001583	missense	0			-	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.214C>T	11.37:g.129827661G>A	ENSP00000354118:p.His72Tyr		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H72Y	ENST00000360871.3	37	c.214	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444480	0.83993	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.58506	0.88;0.88;2.22;1.0;0.33	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.993	D;D;D	0.80764	0.994;0.986;0.968	T	0.71310	-0.4631	10	0.87932	D	0	-29.4146	19.951	0.97199	0.0:0.0:1.0:0.0	.	72;72;72	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	Y	72	ENSP00000351686:H72Y;ENSP00000354118:H72Y;ENSP00000431262:H72Y;ENSP00000432093:H72Y;ENSP00000436681:H72Y	ENSP00000351686:H72Y	H	-	1	0	PRDM10	129332871	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	9.476000	0.97823	2.723000	0.93209	0.650000	0.86243	CAC	-	PRDM10	-	NULL		0.488	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	0	0		63	63		0.00		G	NM_199437		129827661	-1	36		46		tier1	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	43.37		SNP	1.000	A	36	46
TOP1MT	116447	genome.wustl.edu	37	8	144407684	144407684	+	Missense_Mutation	SNP	T	T	C	rs200673353	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144407684T>C	ENST00000329245.4	-	5	537	c.503A>G	c.(502-504)gAa>gGa	p.E168G	TOP1MT_ENST00000523676.1_Missense_Mutation_p.E70G|TOP1MT_ENST00000521193.1_Missense_Mutation_p.E70G|TOP1MT_ENST00000519148.1_Missense_Mutation_p.E70G	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	168					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CTGAAGTTTTTCTGCCTCTTC	0.468													ENSG00000184428	T|||	2	0.000399361	0.0008	0.0014	5008	,	,		21459	0.0		0.0	False		,,,				2504	0.0																0													115.0	116.0	116.0					8																	144407684		2202	4300	6502	SO:0001583	missense	0			GMAF=0.0005	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.503A>G	8.37:g.144407684T>C	ENSP00000328835:p.Glu168Gly		B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	pfam_TopoI_D-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_D-bd_euk,superfamily_D_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.E168G	ENST00000329245.4	37	c.503	CCDS6400.1	8	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	16.07	3.018240	0.54576	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	3.25	3.25	0.37280	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.138001	0.32258	U	0.006346	T	0.59155	0.2173	M	0.86740	2.835	0.49051	D	0.999747	P	0.38167	0.621	P	0.45195	0.473	T	0.65442	-0.6167	10	0.72032	D	0.01	.	10.7462	0.46181	0.0:0.0:0.0:1.0	.	168	Q969P6	TOP1M_HUMAN	G	168;70;70;70;70;70	ENSP00000328835:E168G;ENSP00000428369:E70G;ENSP00000429169:E70G;ENSP00000429181:E70G;ENSP00000427998:E70G;ENSP00000429177:E70G	ENSP00000328835:E168G	E	-	2	0	TOP1MT	144479059	0.999000	0.42202	0.697000	0.30258	0.537000	0.34900	5.000000	0.63940	1.094000	0.41399	0.496000	0.49642	GAA	rs200673353	TOP1MT	-	pfam_TopoI_D-bd_euk,superfamily_TopoI_D-bd_euk		0.468	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	HGNC	protein_coding	OTTHUMT00000381247.3	0	0		55	55		0.00		T	NM_052963		144407684	-1	12		32		tier1	no_errors	ENST00000329245	ensembl	human	known	74_37	missense	27.27		SNP	1.000	C	12	32
GDF5	8200	genome.wustl.edu	37	20	34025454	34025454	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34025454G>A	ENST00000374372.1	-	3	758	c.255C>T	c.(253-255)ggC>ggT	p.G85G	GDF5_ENST00000374369.3_Silent_p.G85G			P43026	GDF5_HUMAN	growth differentiation factor 5	85					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCTGTGTCAGGCCTCCTGTCT	0.652													ENSG00000125965																																					0													44.0	44.0	44.0					20																	34025454		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.255C>T	20.37:g.34025454G>A			E1P5Q2|Q96SB1	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.G85	ENST00000374372.1	37	c.255	CCDS13254.1	20																																																																																			-	GDF5	-	NULL		0.652	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	0	0		16	16		0.00		G			34025454	-1	16		39		tier1	no_errors	ENST00000374369	ensembl	human	known	74_37	silent	29.09		SNP	0.999	A	16	39
GPRC5C	55890	genome.wustl.edu	37	17	72436505	72436505	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:72436505C>T	ENST00000392627.1	+	2	1851	c.725C>T	c.(724-726)gCc>gTc	p.A242V	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A209V|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	197					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCAGGCTGGGCCGTGGCCTCC	0.642													ENSG00000170412																																					0													46.0	44.0	45.0					17																	72436505		2201	4299	6500	SO:0001583	missense	0			-	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.725C>T	17.37:g.72436505C>T	ENSP00000376403:p.Ala242Val		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A242V	ENST00000392627.1	37	c.725	CCDS11699.1	17	.	.	.	.	.	.	.	.	.	.	C	2.495	-0.316517	0.05422	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.87966	-2.32	5.79	-3.03	0.05429	GPCR, family 3, C-terminal (2);	0.902461	0.09773	N	0.757766	T	0.68970	0.3059	N	0.05230	-0.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.54470	-0.8289	10	0.23891	T	0.37	-5.0343	8.538	0.33375	0.0:0.3066:0.1338:0.5596	.	197;197;209	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	V	197;242;209;197	ENSP00000376405:A209V	ENSP00000340595:A242V	A	+	2	0	GPRC5C	69948100	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.671000	0.05250	-0.267000	0.09325	0.561000	0.74099	GCC	-	GPRC5C	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.642	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145094.2	0	0		15	15		0.00		C			72436505	+1	11		21		tier1	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	34.38		SNP	0.003	T	11	21
AZIN2	113451	genome.wustl.edu	37	1	33547798	33547798	+	5'UTR	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:33547798G>C	ENST00000294517.6	+	0	535				ADC_ENST00000398167.1_5'UTR|ADC_ENST00000373440.1_5'Flank|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_5'UTR|ADC_ENST00000373441.1_5'Flank|ADC_ENST00000358680.3_5'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN							agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TACTTTCTAAGGCGGCGGCTG	0.657													ENSG00000142920																																					0																																										SO:0001623	5_prime_UTR_variant	0			-																												ENST00000294517.6:c.-53G>C	1.37:g.33547798G>C			B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	R	SNP	-	NULL	ENST00000294517.6	37	NULL	CCDS375.1	1																																																																																			-	ADC	-	-		0.657	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	0	0		96	96		0.00		G			33547798	+1	27		139		tier1	no_errors	ENST00000462920	ensembl	human	known	74_37	rna	16.17		SNP	1.000	C	27	139
CCNC	892	genome.wustl.edu	37	6	100016559	100016559	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:100016559C>T	ENST00000520429.1	-	0	290				CCNC_ENST00000523985.1_5'Flank|CCNC_ENST00000523799.1_Intron|CCNC_ENST00000518714.1_5'Flank|RP1-199J3.7_ENST00000607332.1_RNA|CCNC_ENST00000369220.4_5'Flank|CCNC_ENST00000482541.2_5'Flank|CCNC_ENST00000520371.1_5'UTR|CCNC_ENST00000521017.1_5'Flank	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C						gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGGATGGCCCCCTAGTCTCCT	0.647													ENSG00000272017																									GBM(57;273 1020 40094 44454 49348)												0																																										SO:0001623	5_prime_UTR_variant	0			-		CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.-156G>A	6.37:g.100016559C>T			B4DPZ1|Q9H543	R	SNP	-	NULL	ENST00000520429.1	37	NULL	CCDS34502.1	6																																																																																			-	RP1-199J3.7	-	-		0.647	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000272017	Clone_based_vega_gene	protein_coding	OTTHUMT00000041613.2	0	0		43	43		0.00		C	NM_005190		100016559	+1	13		41		tier1	no_errors	ENST00000607332	ensembl	human	known	74_37	rna	24.07		SNP	0.051	T	13	41
ARHGEF10L	55160	genome.wustl.edu	37	1	18023602	18023602	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:18023602C>T	ENST00000361221.3	+	29	3726	c.3567C>T	c.(3565-3567)tcC>tcT	p.S1189S	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.S1150S|ARHGEF10L_ENST00000452522.1_Silent_p.S1150S|ARHGEF10L_ENST00000167825.4_Silent_p.S892S|ARHGEF10L_ENST00000375408.3_Silent_p.S962S	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1189						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGCTGCTCTCCATGCGGGAGC	0.677													ENSG00000074964																																					0													13.0	14.0	14.0					1																	18023602		2188	4282	6470	SO:0001819	synonymous_variant	0			-	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3567C>T	1.37:g.18023602C>T			B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.S1189	ENST00000361221.3	37	c.3567	CCDS182.1	1																																																																																			-	ARHGEF10L	-	NULL		0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	0	0		14	14		0.00		C	NM_018125		18023602	+1	4		12		tier1	no_errors	ENST00000361221	ensembl	human	known	74_37	silent	25.00		SNP	0.945	T	4	12
PTPRZ1	5803	genome.wustl.edu	37	7	121650587	121650587	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:121650587C>T	ENST00000393386.2	+	12	1898	c.1487C>T	c.(1486-1488)cCc>cTc	p.P496L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P496L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	496					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTGATGTTCCCAATACATCT	0.428													ENSG00000106278																																					0													112.0	99.0	103.0					7																	121650587		2203	4300	6503	SO:0001583	missense	0			-	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1487C>T	7.37:g.121650587C>T	ENSP00000377047:p.Pro496Leu		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,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,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P496L	ENST00000393386.2	37	c.1487	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	2.711	-0.268733	0.05716	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.40756	1.06;1.02	5.81	1.37	0.22104	.	0.679148	0.14643	N	0.307053	T	0.19565	0.0470	N	0.21448	0.665	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.17745	-1.0359	10	0.08599	T	0.76	.	1.6565	0.02782	0.1786:0.4225:0.1114:0.2875	.	496;496	C9JFM0;P23471	.;PTPRZ_HUMAN	L	496	ENSP00000377047:P496L;ENSP00000410000:P496L	ENSP00000377047:P496L	P	+	2	0	PTPRZ1	121437823	0.162000	0.22906	0.670000	0.29842	0.718000	0.41266	0.265000	0.18515	0.790000	0.33803	0.655000	0.94253	CCC	-	PTPRZ1	-	NULL		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	0	0		63	63		0.00		C	NM_002851		121650587	+1	13		59		tier1	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	18.06		SNP	0.064	T	13	59
SNAP29	9342	genome.wustl.edu	37	22	21224625	21224625	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21224625G>A	ENST00000215730.7	+	2	366	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	80					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GTTTCCCCAGGAGCTCGCCCG	0.532													ENSG00000099940																																					0													77.0	71.0	73.0					22																	21224625		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.238-1G>A	22.37:g.21224625G>A				Missense_Mutation	SNP	pfam_T_SRE_dom,pfam_SP-25,smart_T_SRE_dom,pfscan_T_SRE_dom	p.E80K	ENST00000215730.7	37	c.238	CCDS13784.1	22	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991613	0.93106	.	.	ENSG00000099940	ENST00000215730	T	0.76186	-1.0	5.58	5.58	0.84498	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87215	0.2250	9	.	.	.	-31.1718	19.5775	0.95450	0.0:0.0:1.0:0.0	.	80	O95721	SNP29_HUMAN	K	80	ENSP00000215730:E80K	.	E	+	1	0	SNAP29	19554625	1.000000	0.71417	0.983000	0.44433	0.230000	0.25150	9.776000	0.99001	2.625000	0.88918	0.591000	0.81541	GAG	-	SP29	-	smart_T_SRE_dom		0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP29	HGNC	protein_coding	OTTHUMT00000320000.4	0	0		39	39		0.00		G	NM_004782	Missense_Mutation	21224625	+1	31		48		tier1	no_errors	ENST00000215730	ensembl	human	known	74_37	missense	39.24		SNP	1.000	A	31	48
APOF	319	genome.wustl.edu	37	12	56755347	56755347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56755347G>A	ENST00000398189.3	-	2	720	c.643C>T	c.(643-645)Cga>Tga	p.R215*	STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Nonsense_Mutation_p.R197*|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	215					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCCCCATCTCGGCCTCGTTCC	0.552													ENSG00000175336																																					0													62.0	63.0	63.0					12																	56755347		1964	4154	6118	SO:0001587	stop_gained	0			-	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.643C>T	12.37:g.56755347G>A	ENSP00000381250:p.Arg215*		Q8TC13	Nonsense_Mutation	SNP	NULL	p.R215*	ENST00000398189.3	37	c.643	CCDS44923.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944304	0.92593	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	.	.	.	5.4	4.49	0.54785	.	1.274000	0.06119	N	0.668495	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0193	12.8767	0.57994	0.0:0.0:0.8367:0.1633	.	.	.	.	X	215;197	.	ENSP00000381250:R215X	R	-	1	2	APOF	55041614	0.995000	0.38212	0.994000	0.49952	0.882000	0.50991	0.726000	0.25984	1.391000	0.46566	0.655000	0.94253	CGA	-	APOF	-	NULL		0.552	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	HGNC	protein_coding	OTTHUMT00000410076.1	0	0		42	42		0.00		G			56755347	-1	14		52		tier1	no_errors	ENST00000398189	ensembl	human	known	74_37	nonsense	21.21		SNP	0.975	A	14	52
FLG	2312	genome.wustl.edu	37	1	152275690	152275690	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152275690G>A	ENST00000368799.1	-	3	11707	c.11672C>T	c.(11671-11673)tCt>tTt	p.S3891F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3891	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)			CTGCTCCCGAGAAGATCCATG	0.547									Ichthyosis				ENSG00000143631																																					0													96.0	100.0	99.0					1																	152275690		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.11672C>T	1.37:g.152275690G>A	ENSP00000357789:p.Ser3891Phe		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S3891F	ENST00000368799.1	37	c.11672	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	3.040	-0.197657	0.06219	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.17	-2.77	0.05877	.	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.09310	N	1	B	0.24963	0.115	B	0.20767	0.031	T	0.44528	-0.9322	9	0.56958	D	0.05	.	2.5587	0.04766	0.2692:0.0:0.3459:0.3849	.	3891	P20930	FILA_HUMAN	F	3891	ENSP00000357789:S3891F	ENSP00000357789:S3891F	S	-	2	0	FLG	150542314	0.968000	0.33430	0.000000	0.03702	0.000000	0.00434	0.711000	0.25764	-0.773000	0.04596	-1.815000	0.00603	TCT	-	FLG	-	NULL		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	0	0		93	93		0.00		G	NM_002016		152275690	-1	40		117		tier1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	25.48		SNP	0.000	A	40	117
NTM	50863	genome.wustl.edu	37	11	132016333	132016333	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:132016333G>A	ENST00000374786.1	+	2	804	c.325G>A	c.(325-327)Gac>Aac	p.D109N	NTM_ENST00000374791.3_Missense_Mutation_p.D109N|NTM_ENST00000425719.2_Missense_Mutation_p.D109N|NTM_ENST00000539799.1_Missense_Mutation_p.D109N|NTM_ENST00000374784.1_Missense_Mutation_p.D109N|NTM_ENST00000427481.2_Missense_Mutation_p.D100N	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	109	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGATGTGTATGACGAGGGCCC	0.577													ENSG00000182667																																					0													173.0	119.0	137.0					11																	132016333		2201	4297	6498	SO:0001583	missense	0			-	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.325G>A	11.37:g.132016333G>A	ENSP00000363918:p.Asp109Asn		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D109N	ENST00000374786.1	37	c.325	CCDS8491.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.597833	0.96602	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.58	5.58	0.84498	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.045498	0.85682	D	0.000000	D	0.83004	0.5160	H	0.96662	3.86	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.99;0.999;0.99;0.998;0.999	D;D;D;D;D;D	0.83275	0.996;0.996;0.993;0.996;0.986;0.993	D	0.88521	0.3096	10	0.87932	D	0	-30.9792	19.5604	0.95369	0.0:0.0:1.0:0.0	.	109;100;109;109;109;109	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	N	109;109;100;100;109;109;109	ENSP00000363923:D109N;ENSP00000437668:D109N;ENSP00000448104:D100N;ENSP00000416320:D100N;ENSP00000363918:D109N;ENSP00000396722:D109N;ENSP00000363916:D109N	ENSP00000363916:D109N	D	+	1	0	NTM	131521543	1.000000	0.71417	0.957000	0.39632	0.992000	0.81027	9.852000	0.99516	2.631000	0.89168	0.655000	0.94253	GAC	-	NTM	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	0	0		53	53		0.00		G	NM_016522		132016333	+1	32		44		tier1	no_errors	ENST00000539799	ensembl	human	known	74_37	missense	42.11		SNP	1.000	A	32	44
KLHL30	377007	genome.wustl.edu	37	2	239049494	239049494	+	Silent	SNP	C	C	T	rs575723025		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:239049494C>T	ENST00000409223.1	+	2	206	c.99C>T	c.(97-99)gcC>gcT	p.A33A	KLHL30_ENST00000305959.4_Silent_p.A15A			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCAAGCTGGCCGACGTCACAC	0.662													ENSG00000168427	C|||	1	0.000199681	0.0	0.0014	5008	,	,		17372	0.0		0.0	False		,,,				2504	0.0																0													21.0	24.0	23.0					2																	239049494		2132	4242	6374	SO:0001819	synonymous_variant	0			-		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.99C>T	2.37:g.239049494C>T			Q6ZUS1	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A33	ENST00000409223.1	37	c.99	CCDS46555.2	2																																																																																			-	KLHL30	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	0	0		38	38		0.00		C	NM_198582		239049494	+1	9		54		tier1	no_errors	ENST00000409223	ensembl	human	known	74_37	silent	14.29		SNP	0.916	T	9	54
KCNK5	8645	genome.wustl.edu	37	6	39159488	39159488	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:39159488G>A	ENST00000359534.3	-	5	1016	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	226					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGAGCTCCACGAAGTAGCGGT	0.572													ENSG00000164626																																					0													86.0	96.0	93.0					6																	39159488		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.678C>T	6.37:g.39159488G>A			B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.F226	ENST00000359534.3	37	c.678	CCDS4841.1	6																																																																																			-	KCNK5	-	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TASK		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	0	0		43	43		0.00		G	NM_003740		39159488	-1	13		70		tier1	no_errors	ENST00000359534	ensembl	human	known	74_37	silent	15.66		SNP	0.929	A	13	70
ZNF572	137209	genome.wustl.edu	37	8	125989596	125989596	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:125989596G>A	ENST00000319286.5	+	3	1240	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	362					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)			CTGAATATGAGGAAAGTTTGG	0.383										HNSCC(60;0.17)			ENSG00000180938																																					0													83.0	81.0	82.0					8																	125989596		2203	4300	6503	SO:0001819	synonymous_variant	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.1086G>A	8.37:g.125989596G>A			A1L4F1|Q8N1Q0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E362	ENST00000319286.5	37	c.1086	CCDS6354.1	8																																																																																			-	ZNF572	-	NULL		0.383	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	0	0		44	44		0.00		G	NM_152412		125989596	+1	11		38		tier1	no_errors	ENST00000319286	ensembl	human	known	74_37	silent	22.45		SNP	0.158	A	11	38
BRSK1	84446	genome.wustl.edu	37	19	55817697	55817697	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55817697C>T	ENST00000309383.1	+	17	2245	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	BRSK1_ENST00000590333.1_Silent_p.V672V|BRSK1_ENST00000326848.7_Silent_p.V351V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	656					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCCCTCCGTCTTCCAAAAGC	0.642													ENSG00000160469																																					0													60.0	58.0	59.0					19																	55817697		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1968C>T	19.37:g.55817697C>T			F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.V672	ENST00000309383.1	37	c.2016	CCDS12921.1	19																																																																																			-	BRSK1	-	NULL		0.642	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRSK1	HGNC	protein_coding	OTTHUMT00000452787.1	0	0		50	50		0.00		C	NM_032430		55817697	+1	31		32		tier1	no_errors	ENST00000590333	ensembl	human	known	74_37	silent	49.21		SNP	1.000	T	31	32
TSIX	9383	genome.wustl.edu	37	X	73044726	73044726	+	lincRNA	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:73044726A>G	ENST00000604411.1	+	0	32687				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TAGAGGATAAACTTTCCTCTT	0.284													ENSG00000229807																																					0													28.0	29.0	29.0					X																	73044726		873	1987	2860			0			-			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73044726A>G				R	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			-	XIST	-	-		0.284	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	0	0		41	41		0.00		A	NR_003255		73044726	-1	31		8		tier1	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	79.49		SNP	0.001	G	31	8
EPHA5	2044	genome.wustl.edu	37	4	66230811	66230811	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:66230811A>T	ENST00000273854.3	-	12	2760	c.2160T>A	c.(2158-2160)gaT>gaA	p.D720E	EPHA5_ENST00000354839.4_Missense_Mutation_p.D698E|EPHA5_ENST00000432638.2_Missense_Mutation_p.D557E|EPHA5_ENST00000511294.1_Missense_Mutation_p.D721E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	720	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACCTAGGAAATCTCTGCGTT	0.388										TSP Lung(17;0.13)			ENSG00000145242																																					0													230.0	222.0	225.0					4																	66230811		2203	4300	6503	SO:0001583	missense	0			-	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2160T>A	4.37:g.66230811A>T	ENSP00000273854:p.Asp720Glu		Q7Z3F2	Missense_Mutation	SNP	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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D720E	ENST00000273854.3	37	c.2160	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880311	0.72294	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.76	3.34	0.38264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.78666	0.4319	N	0.04669	-0.19	0.46823	D	0.999218	D;D;D;D	0.67145	0.988;0.986;0.985;0.996	D;D;D;D	0.81914	0.984;0.995;0.973;0.979	T	0.78306	-0.2255	10	0.46703	T	0.11	.	10.1327	0.42689	0.8671:0.0:0.1329:0.0	.	699;721;698;720	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	E	720;557;698;721	ENSP00000273854:D720E;ENSP00000389208:D557E;ENSP00000346899:D698E;ENSP00000427638:D721E	ENSP00000273854:D720E	D	-	3	2	EPHA5	65913406	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.492000	0.45311	0.461000	0.27071	-0.911000	0.02809	GAT	-	EPHA5	-	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_ephrin_rcpt,pfscan_Prot_kinase_dom		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	0	0		100	100		0.00		A	NM_004439		66230811	-1	20		64		tier1	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	23.81		SNP	1.000	T	20	64
ZNF208	7757	genome.wustl.edu	37	19	22156497	22156497	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:22156497G>A	ENST00000397126.4	-	4	1487	c.1339C>T	c.(1339-1341)Cac>Tac	p.H447Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTGTGAATTTTCTTA	0.378													ENSG00000160321																																					0													84.0	91.0	89.0					19																	22156497		2140	4259	6399	SO:0001583	missense	0			-	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1339C>T	19.37:g.22156497G>A	ENSP00000380315:p.His447Tyr			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.H447Y	ENST00000397126.4	37	c.1339	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059525	0.36373	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.67523	-0.27	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79251	0.4414	.	.	.	0.29362	N	0.86461	D	0.63046	0.992	D	0.76071	0.987	T	0.73139	-0.4077	8	0.54805	T	0.06	.	12.3838	0.55322	0.0:0.0:1.0:0.0	.	447	O43345	ZN208_HUMAN	Y	447	ENSP00000380315:H447Y	ENSP00000380315:H447Y	H	-	1	0	ZNF208	21948337	1.000000	0.71417	0.098000	0.21074	0.005000	0.04900	5.196000	0.65136	1.150000	0.42419	0.306000	0.20318	CAC	-	ZNF208	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	0	0		44	44		0.00		G	NM_007153		22156497	-1	11		43		tier1	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	20.37		SNP	0.991	A	11	43
ZNF730	100129543	genome.wustl.edu	37	19	23329011	23329011	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:23329011A>T	ENST00000597761.2	+	4	1364	c.1165A>T	c.(1165-1167)Att>Ttt	p.I389F		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	389					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ACATAAGATAATTCATACTGT	0.333													ENSG00000183850																																					0																																										SO:0001583	missense	0			-	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1165A>T	19.37:g.23329011A>T	ENSP00000472959:p.Ile389Phe			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.I389F	ENST00000597761.2	37	c.1165	CCDS59371.1	19	.	.	.	.	.	.	.	.	.	.	A	11.82	1.751915	0.31046	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.819	0.819	0.18785	.	.	.	.	.	T	0.50000	0.1590	M	0.66297	2.02	0.31674	N	0.644017	.	.	.	.	.	.	T	0.57888	-0.7733	6	0.87932	D	0	.	4.8077	0.13328	0.6847:0.3153:0.0:0.0	.	.	.	.	F	389	.	ENSP00000329365:I389F	I	+	1	0	ZNF730	23120851	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	0.416000	0.21198	0.243000	0.21327	0.240000	0.17902	ATT	-	ZNF730	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.333	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	0	0		60	60		0.00		A	XM_001719792		23329011	+1	11		46		tier1	no_errors	ENST00000597761	ensembl	human	known	74_37	missense	19.30		SNP	1.000	T	11	46
RRP12	23223	genome.wustl.edu	37	10	99131848	99131848	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:99131848G>A	ENST00000370992.4	-	20	2436	c.2325C>T	c.(2323-2325)acC>acT	p.T775T	RRP12_ENST00000315563.6_Silent_p.T675T|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.T714T|RRP12_ENST00000536831.1_Silent_p.T493T	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	775						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGGGCCGGATGGTGGAGTATA	0.632													ENSG00000052749																																					0													77.0	62.0	67.0					10																	99131848		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2325C>T	10.37:g.99131848G>A			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.T775	ENST00000370992.4	37	c.2325	CCDS7457.1	10																																																																																			-	RRP12	-	superfamily_ARM-type_fold		0.632	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	0	0		31	31		0.00		G	NM_015179		99131848	-1	6		40		tier1	no_errors	ENST00000370992	ensembl	human	known	74_37	silent	13.04		SNP	0.994	A	6	40
PRMT5	10419	genome.wustl.edu	37	14	23396033	23396033	+	Intron	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23396033A>T	ENST00000324366.8	-	5	674				PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000553897.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000216350.8_Intron|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Intron	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)		ACTGCACATGAACAGTCACCC	0.438													ENSG00000237054																																					0													119.0	102.0	108.0					14																	23396033		2203	4300	6503	SO:0001627	intron_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.451-10T>A	14.37:g.23396033A>T			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	R	SNP	-	NULL	ENST00000324366.8	37	NULL	CCDS9579.1	14																																																																																			-	PRMT5-AS1	-	-		0.438	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5-AS1	HGNC	protein_coding	OTTHUMT00000071674.3	0	0		46	46		0.00		A			23396033	+1	23		11		tier1	no_errors	ENST00000587245	ensembl	human	known	74_37	rna	67.65		SNP	0.000	T	23	11
USP37	57695	genome.wustl.edu	37	2	219360517	219360517	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219360517C>T	ENST00000258399.3	-	14	1850	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	USP37_ENST00000418019.1_Missense_Mutation_p.E480K|USP37_ENST00000415516.1_Missense_Mutation_p.E408K|USP37_ENST00000454775.1_Missense_Mutation_p.E480K	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	480	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACCTCAAACTCCAAATTAGTA	0.343													ENSG00000135913																																					0													100.0	99.0	99.0					2																	219360517		2203	4300	6503	SO:0001583	missense	0			-	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1438G>A	2.37:g.219360517C>T	ENSP00000258399:p.Glu480Lys		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.E480K	ENST00000258399.3	37	c.1438	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.813555	0.96975	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.107361	0.64402	D	0.000007	T	0.57725	0.2073	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.992	T	0.60332	-0.7284	10	0.87932	D	0	-14.9404	19.3648	0.94458	0.0:1.0:0.0:0.0	.	408;480	Q86T82-2;Q86T82	.;UBP37_HUMAN	K	480;480;408;480	ENSP00000258399:E480K;ENSP00000393662:E480K;ENSP00000400902:E408K;ENSP00000396585:E480K	ENSP00000258399:E480K	E	-	1	0	USP37	219068761	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.780000	0.85658	2.583000	0.87209	0.591000	0.81541	GAG	-	USP37	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.343	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	0	0		92	92		0.00		C	NM_020935		219360517	-1	13		100		tier1	no_errors	ENST00000258399	ensembl	human	known	74_37	missense	11.50		SNP	1.000	T	13	100
MEFV	4210	genome.wustl.edu	37	16	3294266	3294266	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3294266C>T	ENST00000219596.1	-	8	1786	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	MEFV_ENST00000541159.1_Missense_Mutation_p.E372K|MEFV_ENST00000339854.4_Missense_Mutation_p.E403K|MEFV_ENST00000536379.1_Missense_Mutation_p.E372K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	583	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TTGAACATTTCCATTTCTGAA	0.517													ENSG00000103313																																					0													92.0	72.0	79.0					16																	3294266		2197	4300	6497	SO:0001583	missense	0			-	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1747G>A	16.37:g.3294266C>T	ENSP00000219596:p.Glu583Lys		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.E583K	ENST00000219596.1	37	c.1747	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119959	0.20877	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64260	-0.09;0.34;0.11;0.33	5.76	3.82	0.43975	B30.2/SPRY domain (1);	0.146313	0.31660	N	0.007262	T	0.39835	0.1093	N	0.21097	0.63	0.22911	N	0.998575	P	0.43169	0.8	B	0.34180	0.177	T	0.25641	-1.0126	10	0.33940	T	0.23	-11.9148	7.8944	0.29697	0.0:0.8194:0.0:0.1806	.	583	O15553	MEFV_HUMAN	K	583;583;403;372;372;372	ENSP00000219596:E583K;ENSP00000339639:E403K;ENSP00000438711:E372K;ENSP00000445079:E372K	ENSP00000219596:E583K	E	-	1	0	MEFV	3234267	0.926000	0.31397	0.988000	0.46212	0.195000	0.23768	0.870000	0.28010	1.450000	0.47717	-0.251000	0.11542	GAA	-	MEFV	-	pfscan_B30.2/SPRY		0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	0	0		62	62		0.00		C	NM_000243		3294266	-1	34		46		tier1	no_errors	ENST00000219596	ensembl	human	known	74_37	missense	42.50		SNP	0.991	T	34	46
GMDS	2762	genome.wustl.edu	37	6	1960164	1960164	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:1960164G>A	ENST00000380815.4	-	6	849	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	GMDS_ENST00000530927.1_Missense_Mutation_p.R164C	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	194					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TACGCCTCACGGAAGTTCACC	0.383													ENSG00000112699																																					0													81.0	79.0	80.0					6																	1960164		2203	4300	6503	SO:0001583	missense	0			-	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.580C>T	6.37:g.1960164G>A	ENSP00000370194:p.Arg194Cys		E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.R194C	ENST00000380815.4	37	c.580	CCDS4474.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132701	0.77662	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.93906	-3.31;-3.31	5.95	5.95	0.96441	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98928	1.0786	10	0.72032	D	0.01	-3.6284	15.0189	0.71613	0.0:0.0:0.8245:0.1755	.	194	O60547	GMDS_HUMAN	C	164;194	ENSP00000436726:R164C;ENSP00000370194:R194C	ENSP00000370194:R194C	R	-	1	0	GMDS	1905163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.668000	0.54554	2.825000	0.97269	0.655000	0.94253	CGT	-	GMDS	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase		0.383	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	HGNC	protein_coding	OTTHUMT00000043380.3	0	0		61	61		0.00		G			1960164	-1	14		35		tier1	no_errors	ENST00000380815	ensembl	human	known	74_37	missense	28.57		SNP	1.000	A	14	35
MSLNL	401827	genome.wustl.edu	37	16	830165	830165	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:830165G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.P279L			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGGGCACCTGGAATAAGGTG	0.692													ENSG00000162006																																					0													18.0	23.0	21.0					16																	830165		1936	4133	6069	SO:0001627	intron_variant	0			-			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-3C>T	16.37:g.830165G>A				Missense_Mutation	SNP	pfam_Mesothelin	p.P279L	ENST00000442466.1	37	c.836		16	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430572	0.62844	.	.	ENSG00000162006	ENST00000293892	T	0.13778	2.56	4.44	3.47	0.39725	.	1.613290	0.03737	N	0.254380	T	0.12817	0.0311	.	.	.	0.30863	N	0.733307	.	.	.	.	.	.	T	0.27088	-1.0084	6	.	.	.	.	6.3339	0.21285	0.0995:0.1891:0.7115:0.0	.	.	.	.	L	279	ENSP00000293892:P279L	.	P	-	2	0	MSLNL	770166	0.001000	0.12720	0.401000	0.26359	0.011000	0.07611	0.647000	0.24812	1.211000	0.43351	0.563000	0.77884	CCA	-	MSLNL	-	NULL		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		0	0		120	120		0.00		G	NM_001025190		830165	-1	33		105		tier1	no_errors	ENST00000293892	ensembl	human	known	74_37	missense	23.91		SNP	0.583	A	33	105
BTBD11	121551	genome.wustl.edu	37	12	108045475	108045475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:108045475C>T	ENST00000280758.5	+	16	3544	c.3016C>T	c.(3016-3018)Cag>Tag	p.Q1006*	BTBD11_ENST00000357167.4_Nonsense_Mutation_p.Q543*|Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000420571.2_Nonsense_Mutation_p.Q887*|BTBD11_ENST00000494235.2_Nonsense_Mutation_p.Q85*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1006						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						TAAGTTTTTCCAGCTGGAGGC	0.428													ENSG00000151136																																					0													98.0	95.0	96.0					12																	108045475		2203	4300	6503	SO:0001587	stop_gained	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.3016C>T	12.37:g.108045475C>T	ENSP00000280758:p.Gln1006*		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	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.Q1006*	ENST00000280758.5	37	c.3016	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.075285	0.98044	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	.	.	.	X	1006;887;543;85	.	ENSP00000280758:Q1006X	Q	+	1	0	BTBD11	106569605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.535000	0.85469	0.655000	0.94253	CAG	-	BTBD11	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.428	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	0	0		48	48		0.00		C	NM_152322		108045475	+1	7		49		tier1	no_errors	ENST00000280758	ensembl	human	known	74_37	nonsense	12.50		SNP	1.000	T	7	49
ADAM21	8747	genome.wustl.edu	37	14	70926145	70926145	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:70926145G>A	ENST00000603540.1	+	2	2187	c.1929G>A	c.(1927-1929)ggG>ggA	p.G643G	ADAM21_ENST00000267499.3_Silent_p.G643G|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	643	EGF-like.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATATGAAGGGGATCTGCAATA	0.522													ENSG00000139985																																					0													132.0	116.0	121.0					14																	70926145		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1929G>A	14.37:g.70926145G>A			O43507|Q2VPC6|Q32MR0	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G643	ENST00000603540.1	37	c.1929	CCDS9804.1	14																																																																																			-	ADAM21	-	NULL		0.522	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	0	0		85	85		0.00		G			70926145	+1	24		59		tier1	no_errors	ENST00000267499	ensembl	human	known	74_37	silent	28.92		SNP	0.067	A	24	59
TNRC18	84629	genome.wustl.edu	37	7	5391714	5391714	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:5391714C>T	ENST00000430969.1	-	17	5554	c.5206G>A	c.(5206-5208)Gag>Aag	p.E1736K	TNRC18_ENST00000399537.4_Missense_Mutation_p.E1736K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1736							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCGTCTTCCTCTGAGTCCGTA	0.493													ENSG00000182095																																					0													38.0	34.0	35.0					7																	5391714		1568	3582	5150	SO:0001583	missense	0			-	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5206G>A	7.37:g.5391714C>T	ENSP00000395538:p.Glu1736Lys		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E1736K	ENST00000430969.1	37	c.5206	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	c	18.11	3.550669	0.65311	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.57752	2.35;2.35;0.38	5.03	5.03	0.67393	.	0.000000	0.36972	N	0.002307	T	0.55705	0.1937	M	0.68952	2.095	0.41980	D	0.990792	P;P	0.45348	0.799;0.856	B;B	0.42214	0.38;0.283	T	0.60151	-0.7319	10	0.38643	T	0.18	.	18.3528	0.90344	0.0:1.0:0.0:0.0	.	791;1736	A8MSW5;O15417	.;TNC18_HUMAN	K	1736;1736;791;226	ENSP00000382452:E1736K;ENSP00000395538:E1736K;ENSP00000395990:E226K	ENSP00000382452:E1736K	E	-	1	0	TNRC18	5358240	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	5.655000	0.67981	2.348000	0.79779	0.561000	0.74099	GAG	-	TNRC18	-	NULL		0.493	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		0	0		37	37		0.00		C			5391714	-1	13		30		tier1	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	30.23		SNP	1.000	T	13	30
LYST	1130	genome.wustl.edu	37	1	235972736	235972736	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:235972736A>G	ENST00000389794.3	-	5	1556	c.1382T>C	c.(1381-1383)gTt>gCt	p.V461A	LYST_ENST00000389793.2_Missense_Mutation_p.V461A|LYST_ENST00000536965.1_Missense_Mutation_p.V461A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	461					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTCGGGAGGAACTCCATCTCT	0.378													ENSG00000143669																																					0													72.0	72.0	72.0					1																	235972736		2203	4300	6503	SO:0001583	missense	0			-	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1382T>C	1.37:g.235972736A>G	ENSP00000374444:p.Val461Ala		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	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.V461A	ENST00000389794.3	37	c.1382	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.218807	0.39201	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.67171	-0.25;-0.25;2.57	5.14	1.56	0.23342	.	0.376195	0.30676	N	0.009102	T	0.66237	0.2769	L	0.44542	1.39	0.09310	N	1	D;B	0.58620	0.983;0.019	P;B	0.55391	0.775;0.015	T	0.58521	-0.7622	10	0.51188	T	0.08	.	9.0824	0.36561	0.7904:0.0:0.2096:0.0	.	461;461	Q99698-3;Q99698	.;LYST_HUMAN	A	461	ENSP00000374444:V461A;ENSP00000374443:V461A;ENSP00000438315:V461A	ENSP00000374443:V461A	V	-	2	0	LYST	234039359	0.000000	0.05858	0.019000	0.16419	0.667000	0.39255	0.118000	0.15605	0.097000	0.17492	0.533000	0.62120	GTT	-	LYST	-	superfamily_ARM-type_fold		0.378	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	0	0		41	41		0.00		A			235972736	-1	9		51		tier1	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	15.00		SNP	0.064	G	9	51
SLC4A11	83959	genome.wustl.edu	37	20	3210075	3210075	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3210075C>G	ENST00000380056.3	-	14	1861	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.R589P|SLC4A11_ENST00000380059.3_Missense_Mutation_p.R632P	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	605	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CAGGATCTCTCGCACGCAGGG	0.667													ENSG00000088836																									NSCLC(190;922 2139 10266 10292 38692)												0													63.0	59.0	60.0					20																	3210075		2203	4300	6503	SO:0001583	missense	0			-	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1814G>C	20.37:g.3210075C>G	ENSP00000369396:p.Arg605Pro		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.R632P	ENST00000380056.3	37	c.1895	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091710	0.55968	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;D	0.86562	-2.14;-2.14;-2.14	4.9	4.9	0.64082	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95274	0.8467	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.993	D	0.96614	0.9454	10	0.87932	D	0	.	18.0724	0.89413	0.0:1.0:0.0:0.0	.	589;632;605	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	P	632;605;589	ENSP00000369399:R632P;ENSP00000369396:R605P;ENSP00000441370:R589P	ENSP00000369396:R605P	R	-	2	0	SLC4A11	3158075	1.000000	0.71417	0.304000	0.25085	0.102000	0.19082	7.770000	0.85390	2.261000	0.74972	0.462000	0.41574	CGA	-	SLC4A11	-	pfam_HCO3_transpt_C		0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	0	0		51	51		0.00		C			3210075	-1	25		58		tier1	no_errors	ENST00000380059	ensembl	human	known	74_37	missense	30.12		SNP	1.000	G	25	58
POPDC3	64208	genome.wustl.edu	37	6	105606260	105606260	+	3'UTR	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:105606260A>T	ENST00000254765.3	-	0	1239				BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3						regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AACATTAGGGAGCTCTTTTTT	0.299													ENSG00000132429																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.*85T>A	6.37:g.105606260A>T			B2RA98|Q5T3Y8|Q8TBW6	R	SNP	-	NULL	ENST00000254765.3	37	NULL	CCDS5052.1	6																																																																																			-	POPDC3	-	-		0.299	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POPDC3	HGNC	protein_coding	OTTHUMT00000041651.1	0	0		36	36		0.00		A	NM_022361		105606260	-1	18		24		tier1	no_errors	ENST00000474760	ensembl	human	known	74_37	rna	42.86		SNP	0.085	T	18	24
OR5M1	390168	genome.wustl.edu	37	11	56380052	56380052	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56380052G>A	ENST00000526538.1	-	1	926	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	309						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTTTATGAAAGGATTTTCCCC	0.378													ENSG00000255012																																					0													136.0	135.0	135.0					11																	56380052		1849	4096	5945	SO:0001819	synonymous_variant	0			-	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.927C>T	11.37:g.56380052G>A			Q6IF60|Q96RB6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S309	ENST00000526538.1	37	c.927	CCDS53631.1	11																																																																																			-	OR5M1	-	NULL		0.378	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	0	0		82	82		0.00		G	NM_001004740		56380052	-1	20		63		tier1	no_errors	ENST00000526538	ensembl	human	known	74_37	silent	24.10		SNP	0.000	A	20	63
PPP1R13L	10848	genome.wustl.edu	37	19	45899668	45899668	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45899668G>A	ENST00000418234.2	-	5	817	c.739C>T	c.(739-741)Ccg>Tcg	p.P247S	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P247S	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	247	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGGCTTTCGGAGGCCGCCGG	0.657													ENSG00000104881																									Pancreas(61;1447 1663 31419 50578)												0													53.0	59.0	57.0					19																	45899668		2203	4300	6503	SO:0001583	missense	0			-	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.739C>T	19.37:g.45899668G>A	ENSP00000403902:p.Pro247Ser		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.P247S	ENST00000418234.2	37	c.739	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	G	6.631	0.484950	0.12641	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.56941	0.43;0.43	4.31	4.31	0.51392	.	0.272597	0.36591	N	0.002504	T	0.50565	0.1623	N	0.12182	0.205	0.31226	N	0.696891	D;B	0.89917	1.0;0.384	D;B	0.87578	0.998;0.242	T	0.48670	-0.9015	10	0.17832	T	0.49	.	12.1596	0.54098	0.0:0.0:1.0:0.0	.	247;247	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	S	247	ENSP00000403902:P247S;ENSP00000354218:P247S	ENSP00000354218:P247S	P	-	1	0	PPP1R13L	50591508	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	6.011000	0.70760	2.238000	0.73509	0.561000	0.74099	CCG	-	PPP1R13L	-	NULL		0.657	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	0	0		92	92		0.00		G	NM_006663		45899668	-1	16		104		tier1	no_errors	ENST00000360957	ensembl	human	known	74_37	missense	13.33		SNP	1.000	A	16	104
DNAJC11	55735	genome.wustl.edu	37	1	6699997	6699997	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:6699997C>T	ENST00000377577.5	-	11	1341	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Silent_p.L368L|DNAJC11_ENST00000377573.5_Silent_p.L316L|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	406						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTGATGATCAGACGGTGCA	0.522													ENSG00000007923																																					0													97.0	88.0	91.0					1																	6699997		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1218G>A	1.37:g.6699997C>T			Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L406	ENST00000377577.5	37	c.1218	CCDS87.1	1																																																																																			-	DJC11	-	NULL		0.522	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DJC11	HGNC	protein_coding	OTTHUMT00000004216.3	0	0		47	47		0.00		C	NM_018198		6699997	-1	11		30		tier1	no_errors	ENST00000377577	ensembl	human	known	74_37	silent	26.83		SNP	0.028	T	11	30
SEMA5A	9037	genome.wustl.edu	37	5	9063076	9063076	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:9063076G>A	ENST00000382496.5	-	18	3106	c.2441C>T	c.(2440-2442)cCc>cTc	p.P814L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	814	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTTGGGTTCGGGGTTGTTGCA	0.567													ENSG00000112902																																					0													110.0	88.0	95.0					5																	9063076		2203	4300	6503	SO:0001583	missense	0			-	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2441C>T	5.37:g.9063076G>A	ENSP00000371936:p.Pro814Leu		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.P814L	ENST00000382496.5	37	c.2441	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049080	0.93740	.	.	ENSG00000112902	ENST00000382496	T	0.54479	0.57	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.82245	0.4995	H	0.97564	4.03	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.87814	0.2633	10	0.59425	D	0.04	.	17.2182	0.86950	0.0:0.0:1.0:0.0	.	814	Q13591	SEM5A_HUMAN	L	814	ENSP00000371936:P814L	ENSP00000371936:P814L	P	-	2	0	SEMA5A	9116076	1.000000	0.71417	0.992000	0.48379	0.890000	0.51754	9.550000	0.98110	2.659000	0.90383	0.655000	0.94253	CCC	-	SEMA5A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.567	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	0	0		62	62		0.00		G			9063076	-1	11		76		tier1	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	12.36		SNP	1.000	A	11	76
NOTCH3	4854	genome.wustl.edu	37	19	15276890	15276890	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15276890G>A	ENST00000263388.2	-	30	5450	c.5375C>T	c.(5374-5376)cCg>cTg	p.P1792L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1792					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGCATTAGCGGGGTGAAGCC	0.532													ENSG00000074181																																					0													48.0	48.0	48.0					19																	15276890		2203	4300	6503	SO:0001583	missense	0			-	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5375C>T	19.37:g.15276890G>A	ENSP00000263388:p.Pro1792Leu		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P1792L	ENST00000263388.2	37	c.5375	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	30	5.053539	0.93793	.	.	ENSG00000074181	ENST00000263388	T	0.57752	0.38	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.000000	0.32015	N	0.006715	T	0.77232	0.4100	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.81756	-0.0787	10	0.87932	D	0	.	17.6214	0.88083	0.0:0.0:1.0:0.0	.	1792	Q9UM47	NOTC3_HUMAN	L	1792	ENSP00000263388:P1792L	ENSP00000263388:P1792L	P	-	2	0	NOTCH3	15137890	1.000000	0.71417	0.962000	0.40283	0.938000	0.57974	9.519000	0.98025	2.688000	0.91661	0.655000	0.94253	CCG	-	NOTCH3	-	pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.532	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	0	0		36	36		0.00		G	NM_000435		15276890	-1	8		30		tier1	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	21.05		SNP	1.000	A	8	30
LAP3	51056	genome.wustl.edu	37	4	17600148	17600148	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:17600148C>T	ENST00000226299.4	+	10	1421	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.P352S	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	383					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CACGTTTAACCCGAAGGTCAT	0.498													ENSG00000002549																																					0													204.0	154.0	171.0					4																	17600148		2203	4300	6503	SO:0001583	missense	0			-	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1147C>T	4.37:g.17600148C>T	ENSP00000226299:p.Pro383Ser		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB	p.P383S	ENST00000226299.4	37	c.1147	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775672	0.49786	.	.	ENSG00000002549	ENST00000226299	T	0.46451	0.87	5.05	5.05	0.67936	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.049642	0.85682	D	0.000000	T	0.73102	0.3544	H	0.96080	3.765	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.80973	-0.1143	10	0.87932	D	0	-15.4748	11.7708	0.51958	0.1363:0.7321:0.1316:0.0	.	383	P28838	AMPL_HUMAN	S	383	ENSP00000226299:P383S	ENSP00000226299:P383S	P	+	1	0	LAP3	17209246	1.000000	0.71417	0.621000	0.29145	0.053000	0.15095	3.799000	0.55529	2.485000	0.83878	0.563000	0.77884	CCG	-	LAP3	-	pfam_Peptidase_M17_C		0.498	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	0	0		55	55		0.00		C			17600148	+1	25		31		tier1	no_errors	ENST00000226299	ensembl	human	known	74_37	missense	44.64		SNP	1.000	T	25	31
IQSEC2	23096	genome.wustl.edu	37	X	53268415	53268415	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:53268415G>A	ENST00000375368.5	-	10	3247	c.3047C>T	c.(3046-3048)cCc>cTc	p.P1016L	IQSEC2_ENST00000375365.2_Missense_Mutation_p.P821L|IQSEC2_ENST00000396435.3_Missense_Mutation_p.P1026L			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1016	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TTCCACGAGGGGGAAAGACTG	0.507											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000124313																																					0													114.0	103.0	107.0					X																	53268415		2203	4300	6503	SO:0001583	missense	0			-	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3047C>T	X.37:g.53268415G>A	ENSP00000364517:p.Pro1016Leu	991	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.P1026L	ENST00000375368.5	37	c.3077		X	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950090	0.92660	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.41065	1.01;1.01;1.01	5.61	5.61	0.85477	.	0.167225	0.53938	N	0.000056	T	0.55369	0.1916	L	0.47716	1.5	0.80722	D	1	B;D	0.67145	0.111;0.996	B;P	0.59948	0.065;0.866	T	0.54330	-0.8310	10	0.49607	T	0.09	.	17.3444	0.87306	0.0:0.0:1.0:0.0	.	1026;821	Q5JU85-2;Q5JU85-3	.;.	L	1026;1016;821	ENSP00000379712:P1026L;ENSP00000364517:P1016L;ENSP00000364514:P821L	ENSP00000364514:P821L	P	-	2	0	IQSEC2	53285140	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.863000	0.62983	2.363000	0.80096	0.511000	0.50034	CCC	-	IQSEC2	-	smart_Pleckstrin_homology		0.507	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		0	0		63	63		0.00		G	XM_291345		53268415	-1	68		25		tier1	no_errors	ENST00000396435	ensembl	human	known	74_37	missense	73.12		SNP	1.000	A	68	25
ST18	9705	genome.wustl.edu	37	8	53076550	53076550	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:53076550G>A	ENST00000276480.7	-	13	2079	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	466					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCATACCTGTGGGCCTGGTCA	0.512													ENSG00000147488																																					0													103.0	99.0	101.0					8																	53076550		2203	4300	6503	SO:0001583	missense	0			-	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1396C>T	8.37:g.53076550G>A	ENSP00000276480:p.His466Tyr		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.H466Y	ENST00000276480.7	37	c.1396	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084425	0.36758	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.45668	0.93;0.89	5.46	5.46	0.80206	.	0.050006	0.85682	D	0.000000	T	0.48370	0.1496	L	0.54323	1.7	0.46701	D	0.999168	P;P	0.50710	0.938;0.668	P;B	0.49140	0.601;0.246	T	0.26780	-1.0093	10	0.15066	T	0.55	.	19.6691	0.95903	0.0:0.0:1.0:0.0	.	466;466	E5RHS3;O60284	.;ST18_HUMAN	Y	466	ENSP00000276480:H466Y;ENSP00000428521:H466Y	ENSP00000276480:H466Y	H	-	1	0	ST18	53239103	1.000000	0.71417	0.976000	0.42696	0.833000	0.47200	5.768000	0.68858	2.721000	0.93114	0.591000	0.81541	CAC	-	ST18	-	NULL		0.512	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	0	0		58	58		0.00		G			53076550	-1	24		81		tier1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	22.86		SNP	1.000	A	24	81
CYSLTR2	57105	genome.wustl.edu	37	13	49280957	49280957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:49280957G>T	ENST00000282018.3	+	1	7	c.4G>T	c.(4-6)Gag>Tag	p.E2*		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	2					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACCCAGCATGGAGAGAAAATT	0.368													ENSG00000152207																																					0													62.0	65.0	64.0					13																	49280957		2203	4300	6503	SO:0001587	stop_gained	0			-	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.4G>T	13.37:g.49280957G>T	ENSP00000282018:p.Glu2*		Q9HCQ2	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt	p.E2*	ENST00000282018.3	37	c.4	CCDS9412.1	13	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493839	0.64186	.	.	ENSG00000152207	ENST00000282018	.	.	.	5.35	1.58	0.23477	.	2.244820	0.02567	U	0.097405	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	5.1079	0.14794	0.2999:0.2723:0.4278:0.0	.	.	.	.	X	2	.	ENSP00000282018:E2X	E	+	1	0	CYSLTR2	48178958	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.201000	0.17276	0.427000	0.26145	0.655000	0.94253	GAG	-	CYSLTR2	-	NULL		0.368	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	HGNC	protein_coding	OTTHUMT00000044894.1	0	0		69	69		0.00		G			49280957	+1	11		48		tier1	no_errors	ENST00000282018	ensembl	human	known	74_37	nonsense	18.64		SNP	0.000	T	11	48
PTGIS	5740	genome.wustl.edu	37	20	48129663	48129663	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:48129663G>A	ENST00000244043.4	-	8	1189	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	387					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GCTCAGGAAGGGGAAGAGGAG	0.607													ENSG00000124212																																					0													93.0	93.0	93.0					20																	48129663		2203	4300	6503	SO:0001583	missense	0			-		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1160C>T	20.37:g.48129663G>A	ENSP00000244043:p.Pro387Leu		Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.P387L	ENST00000244043.4	37	c.1160	CCDS13419.1	20	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040897	0.93685	.	.	ENSG00000124212	ENST00000244043	T	0.63096	-0.02	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80874	-0.1187	10	0.87932	D	0	-9.0479	16.5218	0.84319	0.0:0.0:1.0:0.0	.	387	Q16647	PTGIS_HUMAN	L	387	ENSP00000244043:P387L	ENSP00000244043:P387L	P	-	2	0	PTGIS	47563070	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.190000	0.94934	2.202000	0.70862	0.561000	0.74099	CCC	-	PTGIS	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I		0.607	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIS	HGNC	protein_coding	OTTHUMT00000080496.2	0	0		27	27		0.00		G			48129663	-1	9		23		tier1	no_errors	ENST00000244043	ensembl	human	known	74_37	missense	28.12		SNP	1.000	A	9	23
PDE5A	8654	genome.wustl.edu	37	4	120486517	120486517	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:120486517G>T	ENST00000354960.3	-	5	1271	c.952C>A	c.(952-954)Cag>Aag	p.Q318K	PDE5A_ENST00000394439.1_Missense_Mutation_p.Q266K|PDE5A_ENST00000264805.5_Missense_Mutation_p.Q276K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	318					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TCATAGAGCTGAGCATTATGA	0.313													ENSG00000138735																																					0													82.0	76.0	78.0					4																	120486517		2203	4299	6502	SO:0001583	missense	0			-	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.952C>A	4.37:g.120486517G>T	ENSP00000347046:p.Gln318Lys		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Q318K	ENST00000354960.3	37	c.952	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896919	0.72639	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.70282	-0.47;-0.47;-0.47	5.56	4.71	0.59529	GAF (1);	0.230621	0.37669	N	0.001981	T	0.77896	0.4199	L	0.48362	1.52	0.80722	D	1	P;D	0.61080	0.739;0.989	B;P	0.62014	0.348;0.897	T	0.79075	-0.1952	10	0.51188	T	0.08	.	15.6765	0.77332	0.0:0.0:0.8615:0.1385	.	318;276	O76074;O76074-2	PDE5A_HUMAN;.	K	318;266;276	ENSP00000347046:Q318K;ENSP00000377957:Q266K;ENSP00000264805:Q276K	ENSP00000264805:Q276K	Q	-	1	0	PDE5A	120705965	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	7.196000	0.77805	1.458000	0.47871	-0.293000	0.09583	CAG	-	PDE5A	-	smart_GAF		0.313	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	0	0		41	41		0.00		G	NM_001083		120486517	-1	12		24		tier1	no_errors	ENST00000354960	ensembl	human	known	74_37	missense	33.33		SNP	1.000	T	12	24
TTN	7273	genome.wustl.edu	37	2	179637996	179637996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179637996C>T	ENST00000591111.1	-	33	7919	c.7695G>A	c.(7693-7695)tgG>tgA	p.W2565*	TTN_ENST00000359218.5_Nonsense_Mutation_p.W2519*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W2519*|TTN_ENST00000589042.1_Nonsense_Mutation_p.W2565*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W2565*|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.W2565*|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W2519*			Q8WZ42	TITIN_HUMAN	titin	12888					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)			CCTTAAAATTCCACAGGACAT	0.343													ENSG00000155657																																					0													42.0	44.0	44.0					2																	179637996		2203	4300	6503	SO:0001587	stop_gained	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.7695G>A	2.37:g.179637996C>T	ENSP00000465570:p.Trp2565*		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	Nonsense_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.W2565*	ENST00000591111.1	37	c.7695		2	.	.	.	.	.	.	.	.	.	.	C	50	16.475385	0.99864	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	.	.	.	X	2565;2519;2519;2519;2519;2565	.	ENSP00000340554:W2519X	W	-	3	0	TTN	179346241	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.685000	0.91497	0.650000	0.86243	TGG	-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		66	66		0.00		C	NM_133378		179637996	-1	11		53		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	17.19		SNP	1.000	T	11	53
C4orf22	255119	genome.wustl.edu	37	4	81866076	81866076	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:81866076C>T	ENST00000358105.3	+	5	638	c.589C>T	c.(589-591)Ctt>Ttt	p.L197F	C4orf22_ENST00000508675.1_Missense_Mutation_p.L214F	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	197								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CAGAAAAATTCTTAATGTGGA	0.333													ENSG00000197826																																					1	Substitution - Missense(1)	large_intestine(1)											71.0	75.0	73.0					4																	81866076		2203	4297	6500	SO:0001583	missense	0			-	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.589C>T	4.37:g.81866076C>T	ENSP00000350818:p.Leu197Phe		E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	NULL	p.L214F	ENST00000358105.3	37	c.640	CCDS3587.1	4	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153887	0.57259	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.34472	1.36;1.36	5.57	3.66	0.41972	.	0.083419	0.45361	D	0.000370	T	0.47210	0.1433	L	0.59436	1.845	0.38359	D	0.944554	D;B	0.59357	0.985;0.363	P;B	0.62014	0.897;0.281	T	0.43048	-0.9415	10	0.38643	T	0.18	.	8.0694	0.30680	0.208:0.704:0.0:0.088	.	214;197	E7EQ13;Q6V702	.;CD022_HUMAN	F	197;214	ENSP00000350818:L197F;ENSP00000425786:L214F	ENSP00000350818:L197F	L	+	1	0	C4orf22	82085100	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	0.775000	0.26689	2.618000	0.88619	0.655000	0.94253	CTT	-	C4orf22	-	NULL		0.333	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	HGNC	protein_coding	OTTHUMT00000252629.2	0	0		67	67		0.00		C	NM_152770		81866076	+1	9		51		tier1	no_errors	ENST00000508675	ensembl	human	known	74_37	missense	15.00		SNP	1.000	T	9	51
HMGXB3	22993	genome.wustl.edu	37	5	149389794	149389794	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149389794C>T	ENST00000502717.1	+	4	897	c.433C>T	c.(433-435)Cct>Tct	p.P145S	HMGXB3_ENST00000503427.1_Missense_Mutation_p.P145S	NM_014983.2	NP_055798	Q12766	HMGX3_HUMAN	HMG box domain containing 3	391	Arg-rich.				phosphorylation (GO:0016310)	nucleus (GO:0005634)	DNA binding (GO:0003677)|kinase activity (GO:0016301)			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						CCGGAGCTGCCCTCAGCTAGA	0.582													ENSG00000113716																																					0													61.0	55.0	57.0					5																	149389794		692	1591	2283	SO:0001583	missense	0			-	D83778	CCDS54935.1	5q33.1	2011-07-01		2009-01-05	ENSG00000113716	ENSG00000113716		"""High mobility group / Non-canonical"""	28982	protein-coding gene	gene with protein product				HMGX3		8724849	Standard	NM_014983		Approved	SMF, KIAA0194	uc003lrk.4	Q12766	OTTHUMG00000163493	ENST00000502717.1:c.433C>T	5.37:g.149389794C>T	ENSP00000421917:p.Pro145Ser		G5E9Y4|Q86UG3|Q9UMF4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P145S	ENST00000502717.1	37	c.433	CCDS54935.1	5	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025319	0.35701	.	.	ENSG00000113716	ENST00000503427;ENST00000502717	.	.	.	5.91	4.11	0.48088	.	0.456452	0.25383	N	0.031068	T	0.17916	0.0430	N	0.08118	0	0.27659	N	0.947134	P	0.39282	0.666	B	0.33339	0.162	T	0.06844	-1.0804	9	0.87932	D	0	-3.5613	10.4377	0.44445	0.0:0.7969:0.1329:0.0702	.	391	Q12766	HMGX3_HUMAN	S	145	.	ENSP00000421917:P145S	P	+	1	0	HMGXB3	149369987	0.930000	0.31532	1.000000	0.80357	0.995000	0.86356	0.527000	0.22987	0.822000	0.34565	0.655000	0.94253	CCT	-	HMGXB3	-	NULL		0.582	HMGXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGXB3	HGNC	protein_coding	OTTHUMT00000373771.1	0	0		27	27		0.00		C	XM_001717202		149389794	+1	25		34		tier1	no_errors	ENST00000502717	ensembl	human	known	74_37	missense	42.37		SNP	0.991	T	25	34
UGT8	7368	genome.wustl.edu	37	4	115544185	115544185	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:115544185A>C	ENST00000310836.6	+	2	671	c.149A>C	c.(148-150)cAc>cCc	p.H50P	UGT8_ENST00000394511.3_Missense_Mutation_p.H50P	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	50					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GAGAGAGGCCACCATACAGTG	0.493													ENSG00000174607																																					0													100.0	90.0	93.0					4																	115544185		2203	4300	6503	SO:0001583	missense	0			-	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.149A>C	4.37:g.115544185A>C	ENSP00000311648:p.His50Pro		B3KXU7|O00196	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H50P	ENST00000310836.6	37	c.149	CCDS3705.1	4	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072993	0.76415	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.10477	2.87;2.87;2.87	5.3	5.3	0.74995	.	0.092424	0.85682	D	0.000000	T	0.42449	0.1203	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54523	-0.8281	10	0.87932	D	0	.	15.5386	0.76021	1.0:0.0:0.0:0.0	.	50	Q16880	CGT_HUMAN	P	50	ENSP00000311648:H50P;ENSP00000421446:H50P;ENSP00000378019:H50P	ENSP00000311648:H50P	H	+	2	0	UGT8	115763634	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.147000	0.94646	2.137000	0.66172	0.528000	0.53228	CAC	-	UGT8	-	pfam_UDP_glucos_trans		0.493	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	0	0		50	50		0.00		A	NM_003360		115544185	+1	17		68		tier1	no_errors	ENST00000310836	ensembl	human	known	74_37	missense	19.77		SNP	1.000	C	17	68
PHLDB2	90102	genome.wustl.edu	37	3	111603786	111603786	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:111603786G>A	ENST00000431670.2	+	2	1273	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	PHLDB2_ENST00000393925.3_Missense_Mutation_p.E288K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E288K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E288K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E315K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E288K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E288K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	288						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAAACTTGGGGAAAAGGATCT	0.443													ENSG00000144824																																					0													62.0	61.0	62.0					3																	111603786		2203	4300	6503	SO:0001583	missense	0			-		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.862G>A	3.37:g.111603786G>A	ENSP00000405405:p.Glu288Lys		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E288K	ENST00000431670.2	37	c.862	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148122	0.57151	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.33654	1.43;1.45;1.44;1.4;1.45;1.44	5.4	5.4	0.78164	.	0.295525	0.39020	N	0.001485	T	0.38772	0.1053	L	0.44542	1.39	0.35843	D	0.82616	B;P;P;B;B	0.49559	0.084;0.675;0.925;0.277;0.449	B;B;P;B;B	0.47162	0.036;0.23;0.54;0.116;0.154	T	0.38628	-0.9652	10	0.30854	T	0.27	.	16.4564	0.84019	0.0:0.0:1.0:0.0	.	288;288;288;288;315	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	K	315;315;288;288;288;288;288;288;288	ENSP00000377500:E315K;ENSP00000405405:E288K;ENSP00000405292:E288K;ENSP00000418296:E288K;ENSP00000377502:E288K;ENSP00000418319:E288K	ENSP00000352764:E315K	E	+	1	0	PHLDB2	113086476	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.950000	0.70265	2.703000	0.92315	0.655000	0.94253	GAA	-	PHLDB2	-	NULL		0.443	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	0	0		46	46		0.00		G	NM_145753		111603786	+1	14		33		tier1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	29.79		SNP	0.998	A	14	33
FERMT1	55612	genome.wustl.edu	37	20	6088260	6088260	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:6088260G>A	ENST00000217289.4	-	6	1556	c.768C>T	c.(766-768)tcC>tcT	p.S256S	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	256	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GTTCCATAAGGGAGCGTGAGG	0.338													ENSG00000101311																																					0													57.0	56.0	57.0					20																	6088260		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.768C>T	20.37:g.6088260G>A			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S256	ENST00000217289.4	37	c.768	CCDS13098.1	20																																																																																			-	FERMT1	-	pfam_FERM_N,smart_Band_41_domain		0.338	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	0	0		77	77		0.00		G	NM_017671		6088260	-1	32		62		tier1	no_errors	ENST00000217289	ensembl	human	known	74_37	silent	34.04		SNP	0.950	A	32	62
HECTD4	283450	genome.wustl.edu	37	12	112631418	112631418	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:112631418G>A	ENST00000430131.2	-	56	8689	c.7544C>T	c.(7543-7545)tCc>tTc	p.S2515F	HECTD4_ENST00000377560.5_Missense_Mutation_p.S2765F|HECTD4_ENST00000550722.1_Missense_Mutation_p.S2791F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2515					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)										GCAGTTCTGGGAATGGATGCA	0.572													ENSG00000173064																																					0													58.0	68.0	65.0					12																	112631418		2048	4206	6254	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.7544C>T	12.37:g.112631418G>A	ENSP00000404379:p.Ser2515Phe		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.S2765F	ENST00000430131.2	37	c.8294		12	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414209	0.62511	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.50001	0.76;0.76;0.76	5.41	4.49	0.54785	.	.	.	.	.	T	0.35393	0.0930	N	0.14661	0.345	0.43326	D	0.99535	P	0.37864	0.61	B	0.38712	0.28	T	0.33266	-0.9875	9	0.59425	D	0.04	.	15.9201	0.79556	0.0:0.1356:0.8644:0.0	.	2515	Q9Y4D8	K0614_HUMAN	F	2765;2515;2791	ENSP00000366783:S2765F;ENSP00000404379:S2515F;ENSP00000449784:S2791F	ENSP00000366783:S2765F	S	-	2	0	C12orf51	111115801	1.000000	0.71417	0.585000	0.28666	0.997000	0.91878	5.716000	0.68437	1.246000	0.43901	0.591000	0.81541	TCC	-	HECTD4	-	NULL		0.572	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		0	0		52	52		0.00		G	NM_173813		112631418	-1	10		46		tier1	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	17.54		SNP	0.993	A	10	46
LIPK	643414	genome.wustl.edu	37	10	90490889	90490889	+	Silent	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:90490889A>C	ENST00000404190.1	+	3	373	c.373A>C	c.(373-375)Aga>Cga	p.R125R		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	125					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CACTTGGTCCAGAAAACACCT	0.433													ENSG00000204021																																					0													69.0	69.0	69.0					10																	90490889		1983	4201	6184	SO:0001819	synonymous_variant	0			-		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.373A>C	10.37:g.90490889A>C			A7KIH8	Silent	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.R125	ENST00000404190.1	37	c.373	CCDS44455.1	10																																																																																			-	LIPK	-	pfam_AB_hydrolase_1		0.433	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPK	HGNC	protein_coding	OTTHUMT00000049253.2	0	0		119	119		0.00		A	XM_061222		90490889	+1	23		119		tier1	no_errors	ENST00000404190	ensembl	human	known	74_37	silent	16.20		SNP	0.887	C	23	119
CHEK2	11200	genome.wustl.edu	37	22	29091738	29091738	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:29091738C>T	ENST00000405598.1	-	12	1410	c.1219G>A	c.(1219-1221)Gct>Act	p.A407T	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.A316T|CHEK2_ENST00000544772.1_Missense_Mutation_p.A186T|CHEK2_ENST00000402731.1_Missense_Mutation_p.A378T|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.A407T|CHEK2_ENST00000348295.3_Missense_Mutation_p.A378T|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.A450T|CHEK2_ENST00000403642.1_Missense_Mutation_p.A316T|CHEK2_ENST00000404276.1_Missense_Mutation_p.A407T			O96017	CHK2_HUMAN	checkpoint kinase 2	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAGTCCACAGCACGGTTATAC	0.443			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					ENSG00000183765																											yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													40.0	40.0	40.0					22																	29091738		2203	4298	6501	SO:0001583	missense	0			-	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1219G>A	22.37:g.29091738C>T	ENSP00000386087:p.Ala407Thr		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom	p.A450T	ENST00000405598.1	37	c.1348	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029326	0.75504	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.53423	0.94;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.94	5.73	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047167	0.85682	D	0.000000	T	0.59018	0.2163	L	0.46819	1.47	0.80722	D	1	D;P;D;D;P;P	0.71674	0.995;0.719;0.998;0.996;0.482;0.829	P;P;D;P;B;B	0.64776	0.748;0.48;0.929;0.858;0.141;0.389	T	0.57242	-0.7845	10	0.46703	T	0.11	-30.0349	14.6473	0.68769	0.1459:0.854:0.0:0.0	.	316;186;407;378;407;450	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	T	378;316;90;186;407;407;407;450;316;378	ENSP00000329012:A378T;ENSP00000372021:A316T;ENSP00000442458:A186T;ENSP00000329178:A407T;ENSP00000385747:A407T;ENSP00000386087:A407T;ENSP00000372023:A450T;ENSP00000384919:A316T;ENSP00000384835:A378T	ENSP00000329178:A407T	A	-	1	0	CHEK2	27421738	1.000000	0.71417	0.861000	0.33841	0.968000	0.65278	5.149000	0.64863	2.710000	0.92621	0.650000	0.86243	GCT	-	CHEK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.443	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	0	0		72	72		0.00		C	NM_001005735		29091738	-1	27		49		tier1	no_errors	ENST00000382580	ensembl	human	known	74_37	missense	35.06		SNP	0.995	T	27	49
PRPF38B	55119	genome.wustl.edu	37	1	109241092	109241092	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:109241092C>T	ENST00000370025.4	+	5	827				PRPF38B_ENST00000370021.1_Intron	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ATTGTCAGATCAGGATATGAA	0.318													ENSG00000134186																																					0																																										SO:0001627	intron_variant	0			-	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.559-134C>T	1.37:g.109241092C>T			Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	R	SNP	-	NULL	ENST00000370025.4	37	NULL	CCDS788.1	1																																																																																			-	PRPF38B	-	-		0.318	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1	0	0		9	9		0.00		C	NM_018061		109241092	+1	6		6		tier1	no_errors	ENST00000485810	ensembl	human	known	74_37	rna	50.00		SNP	1.000	T	6	6
SULT4A1	25830	genome.wustl.edu	37	22	44237720	44237720	+	Missense_Mutation	SNP	C	C	T	rs11542810		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:44237720C>T	ENST00000330884.4	-	2	382	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.V88I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TACTCCAGGACCGGGAGCTGC	0.607													ENSG00000130540																																					0													61.0	62.0	62.0					22																	44237720		2203	4300	6503	SO:0001583	missense	0			-	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.262G>A	22.37:g.44237720C>T	ENSP00000332565:p.Val88Ile		B2R7N3|O43728	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.V88I	ENST00000330884.4	37	c.262	CCDS14051.1	22	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515357	0.44763	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	T;T	0.01685	4.69;4.69	4.4	4.4	0.53042	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	N	0.14661	0.345	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.62315	-0.6880	10	0.54805	T	0.06	.	15.943	0.79771	0.0:1.0:0.0:0.0	.	88	Q9BR01	ST4A1_HUMAN	I	88	ENSP00000332565:V88I;ENSP00000249130:V88I	ENSP00000249130:V88I	V	-	1	0	SULT4A1	42569053	1.000000	0.71417	0.938000	0.37757	0.348000	0.29142	7.204000	0.77872	1.999000	0.58509	0.650000	0.86243	GTC	-	SULT4A1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.607	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	HGNC	protein_coding	OTTHUMT00000280660.2	0	0		65	65		0.00		C	NM_014351		44237720	-1	44		81		tier1	no_errors	ENST00000330884	ensembl	human	known	74_37	missense	35.20		SNP	1.000	T	44	81
TIMM44	10469	genome.wustl.edu	37	19	8006055	8006055	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8006055G>A	ENST00000270538.3	-	2	341	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	25					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGGCTGGAAAGAAATTGGATT	0.547													ENSG00000104980																																					0													59.0	68.0	65.0					19																	8006055		2203	4300	6503	SO:0001583	missense	0			-	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.73C>T	19.37:g.8006055G>A	ENSP00000270538:p.Leu25Phe		A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44	p.L25F	ENST00000270538.3	37	c.73	CCDS12192.1	19	.	.	.	.	.	.	.	.	.	.	G	4.998	0.185407	0.09495	.	.	ENSG00000104980	ENST00000270538	T	0.78816	-1.21	5.0	3.97	0.46021	.	0.401874	0.27371	N	0.019674	T	0.65165	0.2665	L	0.31926	0.97	0.29220	N	0.874013	B	0.10296	0.003	B	0.10450	0.005	T	0.56974	-0.7890	10	0.29301	T	0.29	-12.0562	9.403	0.38444	0.0963:0.0:0.9037:0.0	.	25	O43615	TIM44_HUMAN	F	25	ENSP00000270538:L25F	ENSP00000270538:L25F	L	-	1	0	TIMM44	7912055	0.963000	0.33076	0.332000	0.25469	0.018000	0.09664	1.940000	0.40223	1.330000	0.45394	-0.137000	0.14449	CTT	-	TIMM44	-	pirsf_Tim44		0.547	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	0	0		111	111		0.00		G			8006055	-1	38		103		tier1	no_errors	ENST00000270538	ensembl	human	known	74_37	missense	26.95		SNP	0.518	A	38	103
OR4C3	256144	genome.wustl.edu	37	11	48346767	48346767	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:48346767C>T	ENST00000319856.4	+	1	296	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	65						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCAACCTATCCTTTATTGAC	0.468													ENSG00000176547																																					0													151.0	136.0	141.0					11																	48346767		2201	4298	6499	SO:0001583	missense	0			-	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.275C>T	11.37:g.48346767C>T	ENSP00000321419:p.Ser92Phe		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S92F	ENST00000319856.4	37	c.275	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465519	0.63513	.	.	ENSG00000176547	ENST00000319856	T	0.12361	2.69	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.53351	0.1791	H	0.96547	3.84	0.33973	D	0.647028	D	0.89917	1.0	D	0.97110	1.0	T	0.74609	-0.3608	10	0.87932	D	0	.	17.8871	0.88858	0.0:1.0:0.0:0.0	.	65	Q8NH37	OR4C3_HUMAN	F	92	ENSP00000321419:S92F	ENSP00000321419:S92F	S	+	2	0	OR4C3	48303343	0.517000	0.26226	0.987000	0.45799	0.618000	0.37518	4.740000	0.62087	2.829000	0.97493	0.549000	0.68633	TCC	-	OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	0	0		88	88		0.00		C	NM_001004702		48346767	+1	12		96		tier1	no_errors	ENST00000319856	ensembl	human	known	74_37	missense	11.11		SNP	0.998	T	12	96
OR2C3	81472	genome.wustl.edu	37	1	247695264	247695264	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247695264G>A	ENST00000366487.3	-	2	911	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	184						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(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCATAATGAGGGGCATCTCG	0.557													ENSG00000196242																																					0													77.0	71.0	73.0					1																	247695264		2203	4300	6503	SO:0001583	missense	0			-	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.550C>T	1.37:g.247695264G>A	ENSP00000355443:p.Leu184Phe		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L184F	ENST00000366487.3	37	c.550	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678630	0.47886	.	.	ENSG00000196242	ENST00000366487	T	0.00107	8.72	3.86	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.532223	0.14120	U	0.340094	T	0.00210	0.0006	L	0.28400	0.85	0.09310	N	1	D	0.55385	0.971	P	0.52109	0.69	T	0.58205	-0.7677	10	0.87932	D	0	.	10.3583	0.43977	0.0:0.3892:0.6108:0.0	.	184	Q8N628	OR2C3_HUMAN	F	184	ENSP00000355443:L184F	ENSP00000355443:L184F	L	-	1	0	OR2C3	245761887	0.000000	0.05858	0.980000	0.43619	0.965000	0.64279	-0.218000	0.09240	0.949000	0.37715	0.644000	0.83932	CTC	-	OR2C3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.557	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2	0	0		35	35		0.00		G	NM_198074		247695264	-1	7		35		tier1	no_errors	ENST00000366487	ensembl	human	known	74_37	missense	16.67		SNP	0.078	A	7	35
KIAA1211	57482	genome.wustl.edu	37	4	57182186	57182186	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:57182186G>A	ENST00000504228.1	+	6	2623	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E833K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E840K			Q6ZU35	K1211_HUMAN	KIAA1211	840										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGTGGAGAGGAAAAAGCCTC	0.522													ENSG00000109265																																					0													68.0	77.0	74.0					4																	57182186		2130	4260	6390	SO:0001583	missense	0			-	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2518G>A	4.37:g.57182186G>A	ENSP00000423366:p.Glu840Lys		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.E840K	ENST00000504228.1	37	c.2518	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928661	0.92389	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.19806	2.12;2.12;2.12	4.97	4.97	0.65823	.	.	.	.	.	T	0.46308	0.1386	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.992	D;D;P	0.71656	0.974;0.974;0.856	T	0.45760	-0.9239	9	0.87932	D	0	-19.6335	18.4305	0.90623	0.0:0.0:1.0:0.0	.	833;833;840	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	K	840;840;833;750	ENSP00000264229:E840K;ENSP00000423366:E840K;ENSP00000444006:E833K	ENSP00000264229:E840K	E	+	1	0	KIAA1211	56876943	1.000000	0.71417	0.988000	0.46212	0.478000	0.33099	9.080000	0.94040	2.579000	0.87056	0.561000	0.74099	GAA	-	KIAA1211	-	NULL		0.522	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	0	0		56	56		0.00		G	NM_020722		57182186	+1	25		57		tier1	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	30.49		SNP	1.000	A	25	57
PABPC4L	132430	genome.wustl.edu	37	4	135122209	135122209	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:135122209G>A	ENST00000421491.3	-	0	222				PABPC4L_ENST00000529122.2_Missense_Mutation_p.S47F			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						TTGTCCCCTGGAGTTCTTTGA	0.542													ENSG00000254535																																					0													51.0	52.0	52.0					4																	135122209		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			-	AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.-35C>T	4.37:g.135122209G>A				Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.S47F	ENST00000421491.3	37	c.140		4																																																																																			-	PABPC4L	-	NULL		0.542	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2	0	0		51	51		0.00		G	NM_001114734		135122209	-1	17		48		tier1	no_errors	ENST00000529122	ensembl	human	known	74_37	missense	26.15		SNP	0.000	A	17	48
TBC1D20	128637	genome.wustl.edu	37	20	418378	418378	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:418378C>T	ENST00000354200.4	-	0	2211				TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20						acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AAGTAAAATTCAGGATCTTAG	0.353													ENSG00000125875																																					0													34.0	29.0	30.0					20																	418378		692	1586	2278	SO:0001624	3_prime_UTR_variant	0			-	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.*852G>A	20.37:g.418378C>T			A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	R	SNP	-	NULL	ENST00000354200.4	37	NULL	CCDS13002.1	20																																																																																			-	TBC1D20	-	-		0.353	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D20	HGNC	protein_coding	OTTHUMT00000251397.2	0	0		78	78		0.00		C	NM_144628		418378	-1	25		80		tier1	no_errors	ENST00000461188	ensembl	human	known	74_37	rna	23.81		SNP	0.000	T	25	80
PADI1	29943	genome.wustl.edu	37	1	17563878	17563878	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:17563878G>A	ENST00000375471.4	+	12	1475	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	PADI1_ENST00000413717.2_Silent_p.V18V|PADI1_ENST00000536552.1_Intron|PADI1_ENST00000537499.1_Silent_p.V18V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	461					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGCACCCGTGGAGCTCTACT	0.642											OREG0013147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000142623																									Esophageal Squamous(80;414 1257 4580 27746 50832)												0													171.0	138.0	149.0					1																	17563878		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1383G>A	1.37:g.17563878G>A		89	A1L4K6|Q70SX6	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V461	ENST00000375471.4	37	c.1383	CCDS178.1	1																																																																																			-	PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.642	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	0	0		55	55		0.00		G	NM_013358		17563878	+1	24		36		tier1	no_errors	ENST00000375471	ensembl	human	known	74_37	silent	40.00		SNP	1.000	A	24	36
CHI3L1	1116	genome.wustl.edu	37	1	203148986	203148986	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:203148986C>T	ENST00000255409.3	-	9	1039	c.914G>A	c.(913-915)gGa>gAa	p.G305E		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	305					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GACTGTGGCTCCGCGGAGGAA	0.567													ENSG00000133048																																					0													128.0	111.0	117.0					1																	203148986		2203	4300	6503	SO:0001583	missense	0			-	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.914G>A	1.37:g.203148986C>T	ENSP00000255409:p.Gly305Glu		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.G305E	ENST00000255409.3	37	c.914	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292035	0.59976	.	.	ENSG00000133048	ENST00000255409	T	0.49139	0.79	4.73	4.73	0.59995	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.51477	D	0.000100	T	0.70290	0.3207	M	0.84082	2.675	0.52501	D	0.999957	D;D	0.67145	0.996;0.996	D;D	0.72338	0.912;0.977	T	0.76052	-0.3100	10	0.72032	D	0.01	-5.8233	15.206	0.73180	0.0:1.0:0.0:0.0	.	41;305	B3KTE6;P36222	.;CH3L1_HUMAN	E	305	ENSP00000255409:G305E	ENSP00000255409:G305E	G	-	2	0	CHI3L1	201415609	0.122000	0.22280	0.550000	0.28217	0.853000	0.48598	1.768000	0.38511	2.161000	0.67846	0.313000	0.20887	GGA	-	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.567	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	0	0		16	16		0.00		C	NM_001276		203148986	-1	18		16		tier1	no_errors	ENST00000255409	ensembl	human	known	74_37	missense	52.94		SNP	0.998	T	18	16
OR12D2	26529	genome.wustl.edu	37	6	29364937	29364937	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:29364937C>T	ENST00000383555.2	+	1	522	c.461C>T	c.(460-462)gCc>gTc	p.A154V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	154						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(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTTTTCCATGCCCTGCTGCAC	0.478													ENSG00000168787																																					0													155.0	149.0	151.0					6																	29364937		1511	2709	4220	SO:0001583	missense	0			-		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.461C>T	6.37:g.29364937C>T	ENSP00000373047:p.Ala154Val		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A154V	ENST00000383555.2	37	c.461	CCDS4659.1	6	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489764	0.26686	.	.	ENSG00000168787	ENST00000383555	T	0.39997	1.05	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.46718	0.1407	M	0.73430	2.235	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.34179	-0.9839	10	0.56958	D	0.05	.	6.6202	0.22798	0.1811:0.7212:0.0:0.0977	.	154	P58182	O12D2_HUMAN	V	154	ENSP00000373047:A154V	ENSP00000373047:A154V	A	+	2	0	OR12D2	29472916	0.000000	0.05858	0.428000	0.26697	0.104000	0.19210	0.811000	0.27198	2.019000	0.59389	0.205000	0.17691	GCC	-	OR12D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	HGNC	protein_coding	OTTHUMT00000076054.2	0	0		29	29		0.00		C			29364937	+1	4		21		tier1	no_errors	ENST00000383555	ensembl	human	known	74_37	missense	16.00		SNP	0.001	T	4	21
SPEN	23013	genome.wustl.edu	37	1	16199525	16199525	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16199525C>T	ENST00000375759.3	+	2	502	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	100					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CATAGCATCTCGTAGTAGAGA	0.527													ENSG00000065526																																					0													119.0	108.0	112.0					1																	16199525		2203	4300	6503	SO:0001583	missense	0			-		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.298C>T	1.37:g.16199525C>T	ENSP00000364912:p.Arg100Cys		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R100C	ENST00000375759.3	37	c.298	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962836	0.34659	.	.	ENSG00000065526	ENST00000375759	T	0.10477	2.87	5.57	5.57	0.84162	.	.	.	.	.	T	0.20618	0.0496	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01172	-1.1429	9	0.54805	T	0.06	0.022	14.7284	0.69362	0.0:0.9287:0.0:0.0713	.	100	Q96T58	MINT_HUMAN	C	100	ENSP00000364912:R100C	ENSP00000364912:R100C	R	+	1	0	SPEN	16072112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.186000	0.42593	2.635000	0.89317	0.555000	0.69702	CGT	-	SPEN	-	NULL		0.527	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	0	0		53	53		0.00		C	NM_015001		16199525	+1	24		49		tier1	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	32.88		SNP	1.000	T	24	49
BRD2	6046	genome.wustl.edu	37	6	32939437	32939437	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32939437C>T	ENST00000374825.4	+	0	463				BRD2_ENST00000374831.4_5'UTR|BRD2_ENST00000449085.2_5'Flank|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2-IT1_ENST00000415875.2_RNA|BRD2_ENST00000580234.1_3'UTR|BRD2_ENST00000395289.2_5'UTR|BRD2_ENST00000395287.1_5'Flank|BRD2_ENST00000496118.2_Missense_Mutation_p.P58L|BRD2_ENST00000443797.2_5'UTR	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2						chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						GGCCACACCCCTGGCGGGTTC	0.622													ENSG00000204256																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.-1239C>T	6.37:g.32939437C>T			A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	NULL	p.P58L	ENST00000374825.4	37	c.173	CCDS4762.1	6																																																																																			-	BRD2	-	NULL		0.622	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	0	0		45	45		0.00		C			32939437	+1	21		27		tier1	no_errors	ENST00000496118	ensembl	human	putative	74_37	missense	43.75		SNP	0.955	T	21	27
AHNAK2	113146	genome.wustl.edu	37	14	105409324	105409324	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:105409324G>A	ENST00000333244.5	-	7	12583	c.12464C>T	c.(12463-12465)tCc>tTc	p.S4155F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4155						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACATCCACGGACGCCTCCAT	0.587													ENSG00000185567																																					0													233.0	242.0	239.0					14																	105409324		1962	4141	6103	SO:0001583	missense	0			-	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12464C>T	14.37:g.105409324G>A	ENSP00000353114:p.Ser4155Phe		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S4155F	ENST00000333244.5	37	c.12464	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	14.62	2.588824	0.46110	.	.	ENSG00000185567	ENST00000333244	T	0.00768	5.72	3.42	3.42	0.39159	.	.	.	.	.	T	0.04497	0.0123	M	0.87682	2.9	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.15492	-1.0435	9	0.52906	T	0.07	.	8.9086	0.35539	0.0:0.0:0.5856:0.4144	.	4155	Q8IVF2	AHNK2_HUMAN	F	4155	ENSP00000353114:S4155F	ENSP00000353114:S4155F	S	-	2	0	AHNAK2	104480369	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	1.304000	0.33482	1.776000	0.52262	0.306000	0.20318	TCC	-	AHK2	-	NULL		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHK2	HGNC	protein_coding	OTTHUMT00000410300.1	1	1		128	128		0.77		G	NM_138420		105409324	-1	65		55		tier1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	54.17		SNP	0.005	A	65	55
CDH4	1002	genome.wustl.edu	37	20	60427860	60427860	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:60427860C>T	ENST00000360469.5	+	6	871	c.783C>T	c.(781-783)atC>atT	p.I261I	CDH4_ENST00000543233.1_Silent_p.I187I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	261	Cadherin 1. {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)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAACCCCATCGACCTGTACA	0.597													ENSG00000179242																																					0													169.0	127.0	141.0					20																	60427860		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.783C>T	20.37:g.60427860C>T			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.I261	ENST00000360469.5	37	c.783	CCDS13488.1	20																																																																																			-	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	0	0		34	34		0.00		C	NM_001794		60427860	+1	17		35		tier1	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	32.69		SNP	0.992	T	17	35
ATP1B2	482	genome.wustl.edu	37	17	7556703	7556703	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7556703C>T	ENST00000250111.4	+	2	531	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	42					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTTTATCCTCCTCTTCTACCT	0.542													ENSG00000129244																																					3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)											199.0	158.0	172.0					17																	7556703		2203	4300	6503	SO:0001583	missense	0			-	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.124C>T	17.37:g.7556703C>T	ENSP00000250111:p.Leu42Phe		A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.L42F	ENST00000250111.4	37	c.124	CCDS32550.1	17	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577058	0.86645	.	.	ENSG00000129244	ENST00000250111	T	0.43294	0.95	5.02	5.02	0.67125	.	0.249733	0.34046	N	0.004311	T	0.50990	0.1648	M	0.62723	1.935	0.58432	D	0.999996	P	0.51933	0.949	P	0.54210	0.745	T	0.53774	-0.8391	10	0.62326	D	0.03	-0.2686	9.4686	0.38829	0.0:0.9024:0.0:0.0976	.	42	P14415	AT1B2_HUMAN	F	42	ENSP00000250111:L42F	ENSP00000250111:L42F	L	+	1	0	ATP1B2	7497428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.983000	0.49345	2.326000	0.78906	0.563000	0.77884	CTC	-	ATP1B2	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta		0.542	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1B2	HGNC	protein_coding	OTTHUMT00000440234.1	0	0		44	44		0.00		C	NM_001678		7556703	+1	10		37		tier1	no_errors	ENST00000250111	ensembl	human	known	74_37	missense	21.28		SNP	1.000	T	10	37
LAP3	51056	genome.wustl.edu	37	4	17600149	17600149	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:17600149C>T	ENST00000226299.4	+	10	1422	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Missense_Mutation_p.P352L	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	383					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACGTTTAACCCGAAGGTCATC	0.498													ENSG00000002549																																					0													201.0	152.0	169.0					4																	17600149		2203	4300	6503	SO:0001583	missense	0			-	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1148C>T	4.37:g.17600149C>T	ENSP00000226299:p.Pro383Leu		B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB	p.P383L	ENST00000226299.4	37	c.1148	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664208	0.67700	.	.	ENSG00000002549	ENST00000226299	T	0.47528	0.84	5.05	5.05	0.67936	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.049642	0.85682	D	0.000000	T	0.81730	0.4884	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.89390	0.3688	10	0.87932	D	0	-15.4748	18.7729	0.91899	0.0:1.0:0.0:0.0	.	383	P28838	AMPL_HUMAN	L	383	ENSP00000226299:P383L	ENSP00000226299:P383L	P	+	2	0	LAP3	17209247	1.000000	0.71417	0.594000	0.28785	0.060000	0.15804	7.304000	0.78882	2.485000	0.83878	0.563000	0.77884	CCG	-	LAP3	-	pfam_Peptidase_M17_C		0.498	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	0	0		54	54		0.00		C			17600149	+1	24		31		tier1	no_errors	ENST00000226299	ensembl	human	known	74_37	missense	43.64		SNP	1.000	T	24	31
SUPT20H	55578	genome.wustl.edu	37	13	37596390	37596390	+	Intron	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:37596390A>C	ENST00000350612.6	-	20	1812				SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000464744.1_Intron|SUPT20H_ENST00000356185.3_Intron|SUPT20H_ENST00000475892.1_Missense_Mutation_p.D552E	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)						autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										AGCTCTGAGCATCAGGAGGGT	0.498													ENSG00000102710																																					0																																										SO:0001627	intron_variant	0			-	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1592-173T>G	13.37:g.37596390A>C			E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	pfam_Spt20	p.D552E	ENST00000350612.6	37	c.1656	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674211	0.47781	.	.	ENSG00000102710	ENST00000475892	T	0.45276	0.9	5.62	4.4	0.53042	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.80722	D	1	P	0.52692	0.955	P	0.46362	0.514	T	0.12344	-1.0551	8	0.02654	T	1	.	12.0806	0.53669	0.9315:0.0:0.0685:0.0	.	552	E7ER46	.	E	552	ENSP00000417510:D552E	ENSP00000417510:D552E	D	-	3	2	FAM48A	36494390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.388000	0.44398	1.020000	0.39573	0.455000	0.32223	GAT	-	SUPT20H	-	NULL		0.498	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	HGNC	protein_coding	OTTHUMT00000354766.1	0	0		41	41		0.00		A	NM_017569		37596390	-1	6		24		tier1	no_errors	ENST00000475892	ensembl	human	novel	74_37	missense	20.00		SNP	1.000	C	6	24
CLCN4	1183	genome.wustl.edu	37	X	10182005	10182005	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:10182005G>A	ENST00000380833.4	+	11	2252	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	CLCN4_ENST00000380829.1_Missense_Mutation_p.D590N|CLCN4_ENST00000421085.2_Missense_Mutation_p.D527N|AC003666.1_ENST00000410201.1_RNA	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	621	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACTGTCGAGGACGTGGAGAC	0.632													ENSG00000073464																									Melanoma(74;1050 1296 1576 30544 38374)												0													37.0	31.0	33.0					X																	10182005		2203	4300	6503	SO:0001583	missense	0			-	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1861G>A	X.37:g.10182005G>A	ENSP00000370213:p.Asp621Asn		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.D621N	ENST00000380833.4	37	c.1861	CCDS14137.1	X	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011548	0.54468	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94687	-3.49;-3.49;-3.49	5.29	5.29	0.74685	Cystathionine beta-synthase, core (3);	0.091236	0.64402	D	0.000001	D	0.94729	0.8299	M	0.79123	2.44	0.80722	D	1	B	0.19445	0.036	B	0.27380	0.079	D	0.92972	0.6398	10	0.72032	D	0.01	-40.9702	18.0653	0.89389	0.0:0.0:1.0:0.0	.	621	P51793	CLCN4_HUMAN	N	621;590;527	ENSP00000370213:D621N;ENSP00000370209:D590N;ENSP00000405754:D527N	ENSP00000370209:D590N	D	+	1	0	CLCN4	10142005	1.000000	0.71417	0.940000	0.37924	0.033000	0.12548	9.653000	0.98506	2.202000	0.70862	0.513000	0.50165	GAC	-	CLCN4	-	pfam_CBS_dom,smart_CBS_dom		0.632	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1	0	0		58	58		0.00		G			10182005	+1	56		29		tier1	no_errors	ENST00000380833	ensembl	human	known	74_37	missense	65.88		SNP	1.000	A	56	29
ZNF253	56242	genome.wustl.edu	37	19	20002339	20002339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:20002339C>T	ENST00000589717.1	+	4	375	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZNF253_ENST00000355650.4_Nonsense_Mutation_p.Q19*|AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	95					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)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATTCTTTCCAAATAGGGAT	0.368													ENSG00000256771																																					0													40.0	40.0	40.0					19																	20002339		2083	4241	6324	SO:0001587	stop_gained	0			-	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.283C>T	19.37:g.20002339C>T	ENSP00000468720:p.Gln95*		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q95*	ENST00000589717.1	37	c.283	CCDS42532.1	19	.	.	.	.	.	.	.	.	.	.	c	12.27	1.887906	0.33348	.	.	ENSG00000256771	ENST00000355650	.	.	.	1.92	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3533	0.02177	0.2044:0.4236:0.2033:0.1687	.	.	.	.	X	95	.	.	Q	+	1	0	ZNF253	19863339	0.000000	0.05858	0.026000	0.17262	0.078000	0.17371	-1.575000	0.02131	-0.175000	0.10725	0.298000	0.19748	CAA	-	ZNF253	-	NULL		0.368	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF253	HGNC	protein_coding	OTTHUMT00000460802.1	0	0		58	58		0.00		C	NM_021047		20002339	+1	14		29		tier1	no_errors	ENST00000589717	ensembl	human	known	74_37	nonsense	32.56		SNP	0.002	T	14	29
OR8S1	341568	genome.wustl.edu	37	12	48919765	48919765	+	Silent	SNP	G	G	A	rs528623386		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:48919765G>A	ENST00000310194.1	+	1	351	c.351G>A	c.(349-351)ggG>ggA	p.G117G	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	117						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(1)|large_intestine(4)|lung(11)|skin(4)	22						TTCTCTCAGGGATGGCCTATG	0.537													ENSG00000197376	G|||	1	0.000199681	0.0	0.0	5008	,	,		19060	0.0		0.0	False		,,,				2504	0.001																0													116.0	107.0	110.0					12																	48919765		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.351G>A	12.37:g.48919765G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G117	ENST00000310194.1	37	c.351	CCDS31789.1	12																																																																																			-	OR8S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1	0	0		42	42		0.00		G			48919765	+1	15		18		tier1	no_errors	ENST00000310194	ensembl	human	known	74_37	silent	45.45		SNP	0.188	A	15	18
LRRC49	54839	genome.wustl.edu	37	15	71329564	71329564	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:71329564G>T	ENST00000260382.5	+	15	2010	c.1750G>T	c.(1750-1752)Ggt>Tgt	p.G584C	LRRC49_ENST00000544974.2_Missense_Mutation_p.G574C|LRRC49_ENST00000443425.2_Missense_Mutation_p.G540C|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.G272C|LRRC49_ENST00000560691.1_Missense_Mutation_p.G290C|LRRC49_ENST00000560369.1_Missense_Mutation_p.G589C	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	584						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAAAAAACCTGGTATTATCAA	0.303													ENSG00000137821																																					0													83.0	91.0	88.0					15																	71329564		2199	4294	6493	SO:0001583	missense	0			-		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1750G>T	15.37:g.71329564G>T	ENSP00000260382:p.Gly584Cys		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G584C	ENST00000260382.5	37	c.1750	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230498	0.58777	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.36520	1.25;1.25;1.25	5.04	5.04	0.67666	.	0.127254	0.52532	D	0.000072	T	0.51227	0.1662	L	0.59436	1.845	0.42120	D	0.99142	D;D;D;D;P	0.67145	0.984;0.996;0.991;0.994;0.956	P;P;P;P;P	0.62435	0.8;0.902;0.902;0.794;0.694	T	0.53578	-0.8419	10	0.62326	D	0.03	-13.1423	11.7429	0.51803	0.0:0.1782:0.8218:0.0	.	589;556;540;584;574	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	C	574;584;540;556	ENSP00000439600:G574C;ENSP00000260382:G584C;ENSP00000414065:G540C	ENSP00000260382:G584C	G	+	1	0	LRRC49	69116618	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	4.405000	0.59741	2.324000	0.78689	0.655000	0.94253	GGT	-	LRRC49	-	NULL		0.303	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	0	0		61	61		0.00		G	NM_017691		71329564	+1	4		46		tier1	no_errors	ENST00000260382	ensembl	human	known	74_37	missense	8.00		SNP	0.991	T	4	46
MUC17	140453	genome.wustl.edu	37	7	100677807	100677807	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100677807C>T	ENST00000306151.4	+	3	3174	c.3110C>T	c.(3109-3111)cCt>cTt	p.P1037L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1037	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTCAACTCCTAGTGAAGGA	0.507													ENSG00000169876																																					0													515.0	404.0	441.0					7																	100677807		2203	4298	6501	SO:0001583	missense	0			-	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3110C>T	7.37:g.100677807C>T	ENSP00000302716:p.Pro1037Leu		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.P1037L	ENST00000306151.4	37	c.3110	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903701	0.33628	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.74	0.74	0.18330	.	.	.	.	.	T	0.02688	0.0081	L	0.27053	0.805	0.09310	N	1	P	0.51933	0.949	B	0.39904	0.313	T	0.50242	-0.8851	9	0.32370	T	0.25	.	7.4353	0.27152	0.0:1.0:0.0:0.0	.	1037	Q685J3	MUC17_HUMAN	L	1037	ENSP00000302716:P1037L	ENSP00000302716:P1037L	P	+	2	0	MUC17	100464527	0.001000	0.12720	0.003000	0.11579	0.027000	0.11550	0.747000	0.26290	0.720000	0.32209	0.134000	0.15878	CCT	-	MUC17	-	NULL		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	0	0		86	86		0.00		C	NM_001040105		100677807	+1	38		86		tier1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	30.65		SNP	0.058	T	38	86
NCAM2	4685	genome.wustl.edu	37	21	22881316	22881316	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:22881316G>A	ENST00000400546.1	+	16	2471	c.2222G>A	c.(2221-2223)gGa>gAa	p.G741E	NCAM2_ENST00000284894.7_Missense_Mutation_p.G599E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	741					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAATGTGTGGAAAGAAAAGT	0.443													ENSG00000154654																																					0													119.0	113.0	115.0					21																	22881316		1959	4170	6129	SO:0001583	missense	0			-		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2222G>A	21.37:g.22881316G>A	ENSP00000383392:p.Gly741Glu		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.G741E	ENST00000400546.1	37	c.2222	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443628	0.83993	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.62232	0.04;0.18	4.98	4.98	0.66077	.	0.042746	0.85682	D	0.000000	T	0.65450	0.2692	L	0.55213	1.73	0.80722	D	1	D;D	0.53619	0.961;0.961	P;P	0.47206	0.541;0.541	T	0.70956	-0.4731	10	0.87932	D	0	-16.2537	17.699	0.88289	0.0:0.0:1.0:0.0	.	599;741	B7Z5K2;O15394	.;NCAM2_HUMAN	E	741;599	ENSP00000383392:G741E;ENSP00000284894:G599E	ENSP00000284894:G599E	G	+	2	0	NCAM2	21803187	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	9.327000	0.96396	2.689000	0.91719	0.643000	0.83706	GGA	-	NCAM2	-	NULL		0.443	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	0	0		58	58		0.00		G	NM_004540		22881316	+1	15		70		tier1	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	17.65		SNP	1.000	A	15	70
RGS10	6001	genome.wustl.edu	37	10	121275051	121275051	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:121275051G>A	ENST00000369101.3	-	3	372	c.345C>T	c.(343-345)caC>caT	p.H115H	RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369103.2_Silent_p.H123H|RGS10_ENST00000392865.1_Silent_p.H109H			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	115	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.H123Q(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACATCAGAGGGTGCGGTTCTT	0.507													ENSG00000148908																																					1	Substitution - Missense(1)	breast(1)											186.0	154.0	165.0					10																	121275051		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.345C>T	10.37:g.121275051G>A			A8K408|B1AMR8|Q6IAZ6|Q96GN0	Silent	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.H123	ENST00000369101.3	37	c.369		10																																																																																			-	RGS10	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam		0.507	RGS10-002	KNOWN	basic	protein_coding	RGS10	HGNC	protein_coding	OTTHUMT00000050655.1	0	0		83	83		0.00		G	NM_002925		121275051	-1	42		52		tier1	no_errors	ENST00000369103	ensembl	human	known	74_37	silent	44.68		SNP	0.998	A	42	52
OR10W1	81341	genome.wustl.edu	37	11	58034517	58034517	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:58034517C>T	ENST00000395079.2	-	1	1215	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AGTGGGGTTCCCAATGTGTAC	0.542													ENSG00000172772																																					0													106.0	97.0	100.0					11																	58034517		2201	4295	6496	SO:0001583	missense	0			-	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.814G>A	11.37:g.58034517C>T	ENSP00000378516:p.Gly272Arg		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G272R	ENST00000395079.2	37	c.814	CCDS7968.1	11	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037970	0.54896	.	.	ENSG00000172772	ENST00000395079	T	0.00099	8.73	5.7	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.135206	0.34025	N	0.004322	T	0.00241	0.0007	L	0.55990	1.75	0.09310	N	1	P	0.50819	0.939	P	0.52267	0.694	T	0.45891	-0.9230	10	0.87932	D	0	.	8.1253	0.30995	0.1296:0.7303:0.0:0.1402	.	272	Q8NGF6	O10W1_HUMAN	R	272	ENSP00000378516:G272R	ENSP00000378516:G272R	G	-	1	0	OR10W1	57791093	0.000000	0.05858	0.025000	0.17156	0.754000	0.42855	-0.106000	0.10890	1.390000	0.46547	0.655000	0.94253	GGA	-	OR10W1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	HGNC	protein_coding	OTTHUMT00000394704.1	0	0		51	51		0.00		C	NM_207374		58034517	-1	19		45		tier1	no_errors	ENST00000395079	ensembl	human	known	74_37	missense	28.79		SNP	0.001	T	19	45
MCM3AP	8888	genome.wustl.edu	37	21	47662716	47662716	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47662716C>T	ENST00000397708.1	-	26	5680	c.5426G>A	c.(5425-5427)cGt>cAt	p.R1809H	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Splice_Site_p.R1809H|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1809					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAACCTCACCGTCCCTCTCT	0.393													ENSG00000160294																																					0													141.0	110.0	120.0					21																	47662716		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5426+1G>A	21.37:g.47662716C>T			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R1809H	ENST00000397708.1	37	c.5426	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088652	0.76756	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03607	3.87;3.87	5.84	5.84	0.93424	.	0.713403	0.14659	N	0.306044	T	0.10165	0.0249	L	0.32530	0.975	0.46044	D	0.99883	P;D	0.76494	0.955;0.999	B;P	0.59288	0.379;0.855	T	0.34477	-0.9827	9	.	.	.	0.0057	18.3151	0.90218	0.0:1.0:0.0:0.0	.	1809;304	O60318;B3KT88	MCM3A_HUMAN;.	H	1809;1809;304	ENSP00000380820:R1809H;ENSP00000291688:R1809H	.	R	-	2	0	MCM3AP	46487144	0.997000	0.39634	0.966000	0.40874	0.448000	0.32197	4.566000	0.60843	2.765000	0.95021	0.655000	0.94253	CGT	-	MCM3AP	-	NULL		0.393	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	0	0		33	33		0.00		C	NM_003906	Missense_Mutation	47662716	-1	23		57		tier1	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	28.75		SNP	0.995	T	23	57
SCAP	22937	genome.wustl.edu	37	3	47461104	47461104	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47461104G>A	ENST00000265565.5	-	13	2066	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P297S|SCAP_ENST00000545718.1_Missense_Mutation_p.P160S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	552					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TCACCCAATGGGCTCTGTTCC	0.652													ENSG00000114650																									Pancreas(149;978 1908 29304 37806 46700)												0													59.0	60.0	60.0					3																	47461104		2203	4300	6503	SO:0001583	missense	0			-	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1654C>T	3.37:g.47461104G>A	ENSP00000265565:p.Pro552Ser		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P552S	ENST00000265565.5	37	c.1654	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943735	0.92593	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.79845	-1.31;-1.26;0.87	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	L	0.50333	1.59	0.80722	D	1	P;P	0.42375	0.778;0.533	P;B	0.49085	0.6;0.277	D	0.84958	0.0875	10	0.66056	D	0.02	-19.0351	17.2444	0.87023	0.0:0.0:1.0:0.0	.	297;552	F8W921;Q12770	.;SCAP_HUMAN	S	179;552;297;160	ENSP00000265565:P552S;ENSP00000416847:P297S;ENSP00000438956:P160S	ENSP00000265565:P552S	P	-	1	0	SCAP	47436108	1.000000	0.71417	0.996000	0.52242	0.786000	0.44442	7.270000	0.78493	2.405000	0.81733	0.462000	0.41574	CCA	-	SCAP	-	NULL		0.652	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	0	0		53	53		0.00		G	NM_012235		47461104	-1	24		50		tier1	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	32.43		SNP	1.000	A	24	50
ANKRD17	26057	genome.wustl.edu	37	4	73956416	73956416	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:73956416G>A	ENST00000358602.4	-	29	7045	c.6929C>T	c.(6928-6930)cCa>cTa	p.P2310L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2059L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2197L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2310					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTAATGGTGGTCTAAAACC	0.403													ENSG00000132466																																					0													100.0	105.0	104.0					4																	73956416		2203	4299	6502	SO:0001583	missense	0			-	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6929C>T	4.37:g.73956416G>A	ENSP00000351416:p.Pro2310Leu		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.P2310L	ENST00000358602.4	37	c.6929	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121530	0.37436	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.71341	-0.56;-0.54;-0.28	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000007	T	0.70919	0.3279	L	0.52573	1.65	0.51482	D	0.999922	P;P;P;P	0.42518	0.782;0.782;0.675;0.675	B;B;B;B	0.41174	0.349;0.274;0.19;0.142	T	0.73814	-0.3864	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	2309;2059;2310;2197	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	2310;1717;2059;2197;694	ENSP00000351416:P2310L;ENSP00000332265:P2059L;ENSP00000427151:P2197L	ENSP00000332265:P2059L	P	-	2	0	ANKRD17	74175280	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.555000	0.67301	2.838000	0.97847	0.655000	0.94253	CCA	-	ANKRD17	-	NULL		0.403	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	0	0		68	68		0.00		G	NM_032217		73956416	-1	27		41		tier1	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	39.71		SNP	1.000	A	27	41
TRIP12	9320	genome.wustl.edu	37	2	230723648	230723648	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:230723648C>T	ENST00000283943.5	-	3	919	c.741G>A	c.(739-741)agG>agA	p.R247R	TRIP12_ENST00000409677.1_Silent_p.R289R|TRIP12_ENST00000543084.1_Silent_p.R289R|TRIP12_ENST00000389044.4_Silent_p.R289R|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	247					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTTCCTTTTCCCTGCTACTTC	0.493													ENSG00000153827																																					0													116.0	115.0	116.0					2																	230723648		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.741G>A	2.37:g.230723648C>T			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R247	ENST00000283943.5	37	c.741	CCDS33391.1	2																																																																																			-	TRIP12	-	NULL		0.493	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	0	0		35	35		0.00		C	NM_004238		230723648	-1	25		35		tier1	no_errors	ENST00000283943	ensembl	human	known	74_37	silent	41.67		SNP	1.000	T	25	35
YIF1B	90522	genome.wustl.edu	37	19	38796027	38796027	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38796027G>A	ENST00000339413.6	-	8	955	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	YIF1B_ENST00000337679.8_3'UTR|YIF1B_ENST00000592246.1_Missense_Mutation_p.L238F|YIF1B_ENST00000591784.1_Missense_Mutation_p.L273F|YIF1B_ENST00000592694.1_Missense_Mutation_p.L273F|YIF1B_ENST00000392124.3_Missense_Mutation_p.L273F|YIF1B_ENST00000329420.8_Missense_Mutation_p.L289F	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	304						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGTACATGAGCATAGGCTGC	0.687													ENSG00000167645																																					0													18.0	21.0	20.0					19																	38796027		2198	4289	6487	SO:0001583	missense	0			-	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.910C>T	19.37:g.38796027G>A	ENSP00000343435:p.Leu304Phe		H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	pfam_Hrf1,pfam_Yip1	p.L304F	ENST00000339413.6	37	c.910	CCDS33010.1	19	.	.	.	.	.	.	.	.	.	.	G	9.200	1.028232	0.19512	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124	T;T;T	0.49720	0.77;0.77;0.77	4.86	2.56	0.30785	.	0.172253	0.51477	N	0.000092	T	0.14743	0.0356	N	0.01086	-1.025	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.03493	-1.1031	10	0.22109	T	0.4	-5.5597	4.4772	0.11750	0.4221:0.0:0.5779:0.0	.	273;304;301	Q5BJH7-2;Q5BJH7;Q5BJH7-3	.;YIF1B_HUMAN;.	F	304;289;273	ENSP00000343435:L304F;ENSP00000329559:L289F;ENSP00000375971:L273F	ENSP00000329559:L289F	L	-	1	0	YIF1B	43487867	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	1.462000	0.35266	1.044000	0.40200	0.462000	0.41574	CTC	-	YIF1B	-	pfam_Hrf1		0.687	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1B	HGNC	protein_coding	OTTHUMT00000460511.1	0	0		39	39		0.00		G	NM_033557		38796027	-1	9		28		tier1	no_errors	ENST00000339413	ensembl	human	known	74_37	missense	24.32		SNP	1.000	A	9	28
C11orf49	79096	genome.wustl.edu	37	11	46958262	46958262	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:46958262C>T	ENST00000278460.7	+	0	0				C11orf49_ENST00000543718.1_5'Flank|C11orf49_ENST00000378618.2_5'Flank|C11orf49_ENST00000395460.2_5'Flank|C11orf49_ENST00000378615.3_5'Flank|C11orf49_ENST00000536126.1_5'UTR	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49							nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TCCCGTCCCCCTTCCGCCGCG	0.632													ENSG00000149179																																					0																																										SO:0001631	upstream_gene_variant	0			-	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725		11.37:g.46958262C>T	Exception_encountered		D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	R	SNP	-	NULL	ENST00000278460.7	37	NULL	CCDS7925.1	11																																																																																			-	C11orf49	-	-		0.632	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	0	0		75	75		0.00		C	NM_024113		46958262	+1	47		80		tier1	no_errors	ENST00000533124	ensembl	human	known	74_37	rna	37.01		SNP	0.030	T	47	80
DSCAML1	57453	genome.wustl.edu	37	11	117395666	117395666	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:117395666C>G	ENST00000321322.6	-	5	972	c.971G>C	c.(970-972)cGg>cCg	p.R324P	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R54P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	264	Ig-like C2-type 4.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGGGAGGGGCCGGCCATCCTT	0.677													ENSG00000177103																																					0													28.0	26.0	27.0					11																	117395666		2200	4295	6495	SO:0001583	missense	0			-		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.971G>C	11.37:g.117395666C>G	ENSP00000315465:p.Arg324Pro		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R324P	ENST00000321322.6	37	c.971	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305101	0.81247	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.67698	-0.28;-0.28	4.94	4.02	0.46733	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76751	0.4031	L	0.61387	1.9	0.54753	D	0.999981	D;D	0.60575	0.984;0.988	P;D	0.65140	0.888;0.932	T	0.75522	-0.3288	9	0.32370	T	0.25	.	14.7114	0.69235	0.1459:0.8541:0.0:0.0	.	54;264	G3V1B5;Q8TD84	.;DSCL1_HUMAN	P	54;324;31	ENSP00000434335:R54P;ENSP00000315465:R324P	ENSP00000315465:R324P	R	-	2	0	DSCAML1	116900876	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.710000	0.68392	1.299000	0.44798	0.555000	0.69702	CGG	-	DSCAML1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.677	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	0	0		47	47		0.00		C	NM_020693		117395666	-1	14		64		tier1	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	17.95		SNP	1.000	G	14	64
CNTN3	5067	genome.wustl.edu	37	3	74414788	74414788	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:74414788C>T	ENST00000263665.6	-	8	1039	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	338	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCCCTGCATTCCCAATAAAGA	0.453													ENSG00000113805																																					0													196.0	196.0	196.0					3																	74414788		2203	4300	6503	SO:0001583	missense	0			-	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1012G>A	3.37:g.74414788C>T	ENSP00000263665:p.Glu338Lys		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E338K	ENST00000263665.6	37	c.1012	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709483	0.68730	.	.	ENSG00000113805	ENST00000263665	T	0.67865	-0.29	5.37	4.49	0.54785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.055879	0.64402	D	0.000001	T	0.73853	0.3640	L	0.55990	1.75	0.58432	D	0.999998	D	0.65815	0.995	D	0.63488	0.915	T	0.69833	-0.5038	10	0.09590	T	0.72	.	16.0169	0.80445	0.0:0.8651:0.1349:0.0	.	338	Q9P232	CNTN3_HUMAN	K	338	ENSP00000263665:E338K	ENSP00000263665:E338K	E	-	1	0	CNTN3	74497478	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	4.698000	0.61789	1.224000	0.43551	0.591000	0.81541	GAA	-	CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.453	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	0	0		57	57		0.00		C	NM_020872		74414788	-1	31		65		tier1	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	32.29		SNP	1.000	T	31	65
FASTKD1	79675	genome.wustl.edu	37	2	170403114	170403114	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:170403114T>C	ENST00000453153.2	-	8	1661	c.1315A>G	c.(1315-1317)Att>Gtt	p.I439V	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I439V	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	439					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACGGCTTCAATTCGGGATATC	0.408													ENSG00000138399																																					0													66.0	69.0	68.0					2																	170403114		2203	4300	6503	SO:0001583	missense	0			-	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1315A>G	2.37:g.170403114T>C	ENSP00000400513:p.Ile439Val		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.I439V	ENST00000453153.2	37	c.1315	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	T	3.932	-0.015898	0.07681	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.17370	2.28;2.31	4.44	0.821	0.18799	.	0.458728	0.24256	N	0.040139	T	0.10078	0.0247	L	0.36672	1.1	0.20975	N	0.999813	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.39961	-0.9588	10	0.07175	T	0.84	-18.6467	8.013	0.30363	0.0:0.3657:0.0:0.6343	.	439;439	Q53R41-2;Q53R41	.;FAKD1_HUMAN	V	439	ENSP00000400513:I439V;ENSP00000403229:I439V	ENSP00000400513:I439V	I	-	1	0	FASTKD1	170111360	0.601000	0.26907	0.370000	0.25965	0.938000	0.57974	1.426000	0.34870	0.326000	0.23384	0.460000	0.39030	ATT	-	FASTKD1	-	NULL		0.408	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	0	0		61	61		0.00		T	NM_024622		170403114	-1	36		43		tier1	no_errors	ENST00000453153	ensembl	human	known	74_37	missense	45.57		SNP	0.586	C	36	43
ACTN4	81	genome.wustl.edu	37	19	39214831	39214831	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39214831C>T	ENST00000252699.2	+	15	1803	c.1727C>T	c.(1726-1728)aCc>aTc	p.T576I	ACTN4_ENST00000390009.3_Missense_Mutation_p.T357I|ACTN4_ENST00000424234.2_Missense_Mutation_p.T186I	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	576					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCAAGTCCACCCTGCCGGAC	0.657													ENSG00000130402																									Colon(168;199 1940 10254 46213 46384)												0													57.0	60.0	59.0					19																	39214831		2203	4300	6503	SO:0001583	missense	0			-	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1727C>T	19.37:g.39214831C>T	ENSP00000252699:p.Thr576Ile		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.T576I	ENST00000252699.2	37	c.1727	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869448	0.32977	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	M	0.87547	2.89	0.58432	D	0.999999	P	0.41232	0.743	P	0.51415	0.669	T	0.74651	-0.3594	10	0.87932	D	0	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	576	O43707	ACTN4_HUMAN	I	576;186;357;12	ENSP00000252699:T576I;ENSP00000411187:T186I;ENSP00000439497:T357I;ENSP00000398393:T12I	ENSP00000252699:T576I	T	+	2	0	ACTN4	43906671	1.000000	0.71417	0.963000	0.40424	0.090000	0.18270	7.243000	0.78219	2.106000	0.64143	0.561000	0.74099	ACC	-	ACTN4	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.657	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	0	0		83	83		0.00		C			39214831	+1	36		57		tier1	no_errors	ENST00000252699	ensembl	human	known	74_37	missense	38.71		SNP	1.000	T	36	57
CEP85L	387119	genome.wustl.edu	37	6	118786633	118786633	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:118786633C>T	ENST00000368491.3	-	13	2974	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	CEP85L_ENST00000368488.5_Missense_Mutation_p.E788K	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	785						centrosome (GO:0005813)|cytoplasm (GO:0005737)											GTCCTTAATTCATCAATGTCT	0.433													ENSG00000111860																																					0													284.0	271.0	275.0					6																	118786633		2026	4180	6206	SO:0001583	missense	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.2353G>A	6.37:g.118786633C>T	ENSP00000357477:p.Glu785Lys		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	NULL	p.E788K	ENST00000368491.3	37	c.2362	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228489	0.79576	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.09630	2.96;2.96	5.54	4.65	0.58169	.	0.056593	0.64402	D	0.000002	T	0.09024	0.0223	L	0.55481	1.735	0.45284	D	0.998286	P	0.45531	0.86	P	0.44561	0.453	T	0.03717	-1.1010	10	0.49607	T	0.09	-13.5132	16.5268	0.84333	0.0:0.869:0.131:0.0	.	785	Q5SZL2	CF204_HUMAN	K	785;788	ENSP00000357477:E785K;ENSP00000357474:E788K	ENSP00000357474:E788K	E	-	1	0	C6orf204	118893326	1.000000	0.71417	0.560000	0.28344	0.719000	0.41307	5.040000	0.64191	1.437000	0.47472	0.591000	0.81541	GAA	-	CEP85L	-	NULL		0.433	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	0	0		61	61		0.00		C	NM_001042475		118786633	-1	7		56		tier1	no_errors	ENST00000368488	ensembl	human	known	74_37	missense	11.11		SNP	1.000	T	7	56
RPL28	6158	genome.wustl.edu	37	19	55898033	55898033	+	Silent	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55898033T>G	ENST00000344063.2	+	3	806	c.177T>G	c.(175-177)ggT>ggG	p.G59G	RPL28_ENST00000428193.2_Silent_p.G59G|RPL28_ENST00000558815.1_Silent_p.G59G|RPL28_ENST00000431533.2_Silent_p.G59G|RPL28_ENST00000560583.1_Silent_p.G59G|RPL28_ENST00000558752.1_Silent_p.G59G|RPL28_ENST00000560055.1_Silent_p.G59G|RPL28_ENST00000458349.2_Silent_p.G59G|RPL28_ENST00000558131.1_Silent_p.G59G|RPL28_ENST00000559463.1_Silent_p.G59G|TMEM238_ENST00000444469.3_5'Flank			P46779	RL28_HUMAN	ribosomal protein L28	59					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		ACGGCAAAGGTGTCGTGGTGG	0.577													ENSG00000108107																																					0													90.0	100.0	97.0					19																	55898033		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.177T>G	19.37:g.55898033T>G			B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Silent	SNP	NULL	p.G59	ENST00000344063.2	37	c.177	CCDS12924.1	19																																																																																			-	RPL28	-	NULL		0.577	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	0	0		23	23		0.00		T	NM_000991		55898033	+1	5		11		tier1	no_errors	ENST00000458349	ensembl	human	known	74_37	silent	31.25		SNP	0.318	G	5	11
OR9I1	219954	genome.wustl.edu	37	11	57886531	57886531	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:57886531G>A	ENST00000302610.1	-	1	385	c.386C>T	c.(385-387)cCa>cTa	p.P129L	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	129						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(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ATAGAGCAGTGGGTTGCGAAT	0.557													ENSG00000172377																																					0													50.0	46.0	48.0					11																	57886531		2201	4296	6497	SO:0001583	missense	0			-	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.386C>T	11.37:g.57886531G>A	ENSP00000302606:p.Pro129Leu		Q6IFH0|Q96RA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P129L	ENST00000302610.1	37	c.386	CCDS31542.1	11	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472912	0.63737	.	.	ENSG00000172377	ENST00000302610	T	0.01902	4.57	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000191	T	0.19725	0.0474	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02345	-1.1173	10	0.87932	D	0	-15.7393	17.5525	0.87880	0.0:0.0:1.0:0.0	.	129	Q8NGQ6	OR9I1_HUMAN	L	129	ENSP00000302606:P129L	ENSP00000302606:P129L	P	-	2	0	OR9I1	57643107	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	9.391000	0.97249	2.809000	0.96659	0.467000	0.42956	CCA	-	OR9I1	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.557	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9I1	HGNC	protein_coding	OTTHUMT00000394539.1	0	0		47	47		0.00		G	NM_001005211		57886531	-1	11		47		tier1	no_errors	ENST00000302610	ensembl	human	known	74_37	missense	18.97		SNP	1.000	A	11	47
KDM6B	23135	genome.wustl.edu	37	17	7750915	7750915	+	Missense_Mutation	SNP	C	C	T	rs529894126		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7750915C>T	ENST00000448097.2	+	11	1640	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	KDM6B_ENST00000254846.5_Missense_Mutation_p.R437C			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	437	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCACCATGGCCGCCTGGGGCC	0.652													ENSG00000132510	C|||	1	0.000199681	0.0	0.0	5008	,	,		7561	0.001		0.0	False		,,,				2504	0.0																0													28.0	31.0	30.0					17																	7750915		2203	4300	6503	SO:0001583	missense	0			-	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1309C>T	17.37:g.7750915C>T	ENSP00000412513:p.Arg437Cys		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R437C	ENST00000448097.2	37	c.1309		17	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655466	0.47467	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.10288	2.89;2.89	4.19	4.19	0.49359	.	0.178130	0.36338	N	0.002644	T	0.16128	0.0388	N	0.14661	0.345	0.58432	D	0.999995	D	0.89917	1.0	D	0.67548	0.952	T	0.08166	-1.0735	10	0.51188	T	0.08	-4.3945	13.9239	0.63950	0.0:1.0:0.0:0.0	.	437	O15054-1	.	C	437	ENSP00000254846:R437C;ENSP00000412513:R437C	ENSP00000254846:R437C	R	+	1	0	KDM6B	7691640	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.539000	0.36104	2.343000	0.79666	0.561000	0.74099	CGC	-	KDM6B	-	NULL		0.652	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	0	0		15	15		0.00		C	XM_043272		7750915	+1	11		25		tier1	no_errors	ENST00000254846	ensembl	human	known	74_37	missense	30.56		SNP	1.000	T	11	25
RYR1	6261	genome.wustl.edu	37	19	39013745	39013745	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39013745C>T	ENST00000359596.3	+	68	10337	c.10337C>T	c.(10336-10338)tCc>tTc	p.S3446F	RYR1_ENST00000355481.4_Missense_Mutation_p.S3446F|RYR1_ENST00000360985.3_Missense_Mutation_p.S3446F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3446					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCTACTGGTCCAAGTCCCAC	0.662													ENSG00000196218																																					0													49.0	48.0	48.0					19																	39013745		2203	4300	6503	SO:0001583	missense	0			-	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10337C>T	19.37:g.39013745C>T	ENSP00000352608:p.Ser3446Phe		Q16314|Q16368|Q9NPK1|Q9P1U4	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S3446F	ENST00000359596.3	37	c.10337	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262796	0.23051	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97480	-4.39;-4.38;-4.4	2.94	1.85	0.25348	.	0.185923	0.36268	U	0.002694	D	0.96978	0.9013	M	0.77313	2.365	0.39189	D	0.962937	D;D;D	0.60160	0.987;0.987;0.978	P;P;P	0.52217	0.6;0.693;0.497	D	0.96474	0.9351	10	0.72032	D	0.01	.	11.5463	0.50696	0.0:0.6549:0.3451:0.0	.	3446;3446;3446	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	F	3446;3446;3446;366	ENSP00000352608:S3446F;ENSP00000347667:S3446F;ENSP00000354254:S3446F	ENSP00000347667:S3446F	S	+	2	0	RYR1	43705585	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.092000	0.50207	0.542000	0.28846	0.462000	0.41574	TCC	-	RYR1	-	NULL		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	0	0		22	22		0.00		C			39013745	+1	4		10		tier1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	28.57		SNP	1.000	T	4	10
ARHGAP39	80728	genome.wustl.edu	37	8	145773498	145773498	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145773498G>A	ENST00000276826.5	-	4	1173	c.972C>T	c.(970-972)atC>atT	p.I324I	ARHGAP39_ENST00000540274.1_Silent_p.I324I|ARHGAP39_ENST00000377307.2_Silent_p.I324I|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	324	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTCATCGTAGATGGGGGCCT	0.706													ENSG00000147799																																					0													23.0	27.0	26.0					8																	145773498		2034	4054	6088	SO:0001819	synonymous_variant	0			-		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.972C>T	8.37:g.145773498G>A			B4E1I1	Silent	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom	p.I324	ENST00000276826.5	37	c.972		8																																																																																			-	ARHGAP39	-	NULL		0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1	0	0		8	8		0.00		G			145773498	-1	6		8		tier1	no_errors	ENST00000377307	ensembl	human	known	74_37	silent	42.86		SNP	1.000	A	6	8
TXNRD1	7296	genome.wustl.edu	37	12	104714904	104714904	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:104714904A>T	ENST00000529546.1	+	7	686	c.461A>T	c.(460-462)aAg>aTg	p.K154M	TXNRD1_ENST00000378070.4_Missense_Mutation_p.K291M|TXNRD1_ENST00000427956.1_Missense_Mutation_p.K307M|TXNRD1_ENST00000388854.3_Missense_Mutation_p.K244M|TXNRD1_ENST00000540716.1_Missense_Mutation_p.K154M|TXNRD1_ENST00000503506.2_Missense_Mutation_p.K192M|TXNRD1_ENST00000429002.2_Missense_Mutation_p.K342M|TXNRD1_ENST00000526691.1_Missense_Mutation_p.K244M|TXNRD1_ENST00000397736.2_Missense_Mutation_p.K236M|TXNRD1_ENST00000526390.1_Missense_Mutation_p.K236M|TXNRD1_ENST00000542918.1_Missense_Mutation_p.K242M|TXNRD1_ENST00000526950.1_Missense_Mutation_p.K261M|TXNRD1_ENST00000354940.6_Missense_Mutation_p.K192M|TXNRD1_ENST00000525566.1_Missense_Mutation_p.K342M|TXNRD1_ENST00000524698.1_Missense_Mutation_p.K192M			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	342	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TGCCCGGGTAAGACCCTGGTT	0.398													ENSG00000198431																									Ovarian(139;555 1836 9186 9946 10884)												0													286.0	256.0	265.0					12																	104714904		1888	4113	6001	SO:0001583	missense	0			-		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.461A>T	12.37:g.104714904A>T	ENSP00000434919:p.Lys154Met		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/D-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.K342M	ENST00000529546.1	37	c.1025	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140405	0.77775	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.69	4.52	0.55395	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.042369	0.85682	D	0.000000	T	0.78874	0.4352	H	0.99026	4.405	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.996;0.997;0.999;0.999	D;D;D;D;D;D;D	0.78314	0.985;0.975;0.991;0.958;0.975;0.986;0.986	T	0.82548	-0.0402	10	0.87932	D	0	-26.0808	8.7055	0.34351	0.8026:0.1294:0.0679:0.0	.	242;236;342;244;192;342;307	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	M	342;342;192;244;244;192;236;154;154;192;242;291;236;307;261	ENSP00000434516:K342M;ENSP00000412045:K342M;ENSP00000421934:K192M;ENSP00000435929:K244M;ENSP00000373506:K244M;ENSP00000347020:K192M;ENSP00000435123:K236M;ENSP00000434919:K154M;ENSP00000442709:K154M;ENSP00000433425:K192M;ENSP00000440978:K242M;ENSP00000367310:K291M;ENSP00000380844:K236M;ENSP00000393328:K307M;ENSP00000432812:K261M	ENSP00000347020:K192M	K	+	2	0	TXNRD1	103239034	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	7.476000	0.81055	0.966000	0.38159	0.514000	0.50259	AAG	-	TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase		0.398	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	0	0		45	45		0.00		A	NM_003330		104714904	+1	11		30		tier1	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	25.58		SNP	1.000	T	11	30
TRPA1	8989	genome.wustl.edu	37	8	72948686	72948686	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:72948686T>C	ENST00000262209.4	-	21	2599	c.2392A>G	c.(2392-2394)Aat>Gat	p.N798D	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	798					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)	ATAAAATAATTCCTTTTCTGG	0.353													ENSG00000104321																																					0													32.0	35.0	34.0					8																	72948686		2203	4300	6503	SO:0001583	missense	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.2392A>G	8.37:g.72948686T>C	ENSP00000262209:p.Asn798Asp		A6NIN6	Missense_Mutation	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.N798D	ENST00000262209.4	37	c.2392	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	T	9.111	1.006678	0.19199	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.76839	-1.05;-1.05	4.53	4.53	0.55603	Ion transport (1);	0.221206	0.47093	D	0.000246	T	0.72914	0.3520	M	0.65975	2.015	0.31429	N	0.673309	B	0.19445	0.036	B	0.17098	0.017	T	0.72656	-0.4227	10	0.41790	T	0.15	-14.7538	8.8512	0.35201	0.0:0.0857:0.0:0.9143	.	798	O75762	TRPA1_HUMAN	D	650;798	ENSP00000428151:N650D;ENSP00000262209:N798D	ENSP00000262209:N798D	N	-	1	0	TRPA1	73111240	0.725000	0.28048	0.943000	0.38184	0.122000	0.20287	3.010000	0.49559	1.800000	0.52685	0.377000	0.23210	AAT	-	TRPA1	-	pfam_Ion_trans_dom		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	0	0		76	76		0.00		T	NM_007332		72948686	-1	21		76		tier1	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	21.65		SNP	0.949	C	21	76
MAPK8IP3	23162	genome.wustl.edu	37	16	1816257	1816257	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1816257C>T	ENST00000250894.4	+	22	2820	c.2663C>T	c.(2662-2664)cCg>cTg	p.P888L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P882L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	888					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AAGGTCAACCCGTCCCAGTCC	0.652													ENSG00000138834																																					0													40.0	52.0	48.0					16																	1816257		2110	4240	6350	SO:0001583	missense	0			-	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2663C>T	16.37:g.1816257C>T	ENSP00000250894:p.Pro888Leu		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.P888L	ENST00000250894.4	37	c.2663	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270620	0.23221	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.31247	1.5;1.5	5.09	4.07	0.47477	.	0.404947	0.28026	N	0.016900	T	0.21801	0.0525	L	0.29908	0.895	0.58432	D	0.999998	B;B;B	0.23650	0.006;0.089;0.057	B;B;B	0.19666	0.001;0.026;0.02	T	0.05451	-1.0884	10	0.49607	T	0.09	-21.5706	10.2587	0.43414	0.4341:0.5659:0.0:0.0	.	889;882;888	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	888;882	ENSP00000250894:P888L;ENSP00000348290:P882L	ENSP00000250894:P888L	P	+	2	0	MAPK8IP3	1756258	0.963000	0.33076	0.896000	0.35187	0.916000	0.54674	2.288000	0.43514	2.387000	0.81309	0.561000	0.74099	CCG	-	MAPK8IP3	-	NULL		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	0	0		31	31		0.00		C	NM_001040439		1816257	+1	23		38		tier1	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	37.70		SNP	0.928	T	23	38
SLC7A8	23428	genome.wustl.edu	37	14	23652009	23652009	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23652009C>T	ENST00000316902.7	-	1	840	c.115G>A	c.(115-117)Gag>Aag	p.E39K	SLC7A8_ENST00000469263.1_Missense_Mutation_p.E39K|C14orf164_ENST00000399910.1_5'Flank	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	39					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AATCCGATCTCTTTCTTCAGG	0.602													ENSG00000092068																																					0													129.0	112.0	118.0					14																	23652009		2203	4300	6503	SO:0001583	missense	0			-	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.115G>A	14.37:g.23652009C>T	ENSP00000320378:p.Glu39Lys		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.E39K	ENST00000316902.7	37	c.115	CCDS9590.1	14	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635609	0.67130	.	.	ENSG00000092068	ENST00000316902;ENST00000469263;ENST00000524758;ENST00000525062	D;D;D;D	0.94497	-2.56;-2.84;-2.75;-3.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	N	0.19112	0.55	0.80722	D	1	P;P	0.47350	0.894;0.752	P;P	0.48770	0.507;0.589	D	0.90491	0.4467	10	0.25751	T	0.34	.	16.7715	0.85538	0.0:1.0:0.0:0.0	.	39;39	E9PLV9;Q9UHI5	.;LAT2_HUMAN	K	39	ENSP00000320378:E39K;ENSP00000435114:E39K;ENSP00000434352:E39K;ENSP00000436665:E39K	ENSP00000320378:E39K	E	-	1	0	SLC7A8	22721849	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.138000	0.50570	2.551000	0.86045	0.462000	0.41574	GAG	-	SLC7A8	-	pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.602	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A8	HGNC	protein_coding	OTTHUMT00000071718.3	0	0		67	67		0.00		C			23652009	-1	24		31		tier1	no_errors	ENST00000316902	ensembl	human	known	74_37	missense	43.64		SNP	1.000	T	24	31
LCTL	197021	genome.wustl.edu	37	15	66855888	66855888	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:66855888G>A	ENST00000341509.5	-	4	577	c.446C>T	c.(445-447)cCc>cTc	p.P149L	LCTL_ENST00000537670.1_5'UTR|LCTL_ENST00000563438.1_5'Flank	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	149					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTCACGATGGGAGTGATGTT	0.527													ENSG00000188501																																					0													166.0	136.0	146.0					15																	66855888		2201	4299	6500	SO:0001583	missense	0			-	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.446C>T	15.37:g.66855888G>A	ENSP00000343490:p.Pro149Leu		B3KQY0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.P149L	ENST00000341509.5	37	c.446	CCDS10220.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.292489	0.95546	.	.	ENSG00000188501	ENST00000341509	T	0.48836	0.8	5.67	5.67	0.87782	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.047674	0.85682	D	0.000000	T	0.80654	0.4664	H	0.97635	4.045	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.87226	0.2257	10	0.87932	D	0	-22.1127	18.7573	0.91837	0.0:0.0:1.0:0.0	.	149	Q6UWM7	LCTL_HUMAN	L	149	ENSP00000343490:P149L	ENSP00000343490:P149L	P	-	2	0	LCTL	64642942	1.000000	0.71417	0.967000	0.41034	0.959000	0.62525	9.271000	0.95698	2.689000	0.91719	0.462000	0.41574	CCC	-	LCTL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.527	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	HGNC	protein_coding	OTTHUMT00000256921.2	0	0		37	37		0.00		G	NM_207338		66855888	-1	20		12		tier1	no_errors	ENST00000341509	ensembl	human	known	74_37	missense	62.50		SNP	1.000	A	20	12
FGFR1	2260	genome.wustl.edu	37	8	38271205	38271205	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:38271205C>T	ENST00000447712.2	-	18	3351	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	FGFR1_ENST00000532791.1_Missense_Mutation_p.E802K|FGFR1_ENST00000425967.3_Missense_Mutation_p.E835K|FGFR1_ENST00000326324.6_Missense_Mutation_p.E713K|FGFR1_ENST00000397091.5_Missense_Mutation_p.E802K|FGFR1_ENST00000397113.2_Missense_Mutation_p.E802K|FGFR1_ENST00000397108.4_Missense_Mutation_p.E802K|FGFR1_ENST00000356207.5_Missense_Mutation_p.E715K|FGFR1_ENST00000341462.5_Missense_Mutation_p.E804K|FGFR1_ENST00000335922.5_Missense_Mutation_p.E794K|FGFR1_ENST00000397103.1_Missense_Mutation_p.E715K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	804					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGGCAGGGCTCCTCGGGCAGC	0.662		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						ENSG00000077782																									Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													17.0	24.0	22.0					8																	38271205		2070	4188	6258	SO:0001583	missense	0			-	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2410G>A	8.37:g.38271205C>T	ENSP00000400162:p.Glu804Lys		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E835K	ENST00000447712.2	37	c.2503	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	C	35	5.459161	0.96240	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	T;T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.65	5.65	0.86999	.	0.091183	0.85682	D	0.000000	D	0.85513	0.5714	M	0.77820	2.39	0.80722	D	1	P;P;D;P;D	0.56968	0.94;0.94;0.963;0.94;0.978	P;P;P;P;P	0.52823	0.641;0.641;0.516;0.71;0.71	D	0.87040	0.2140	10	0.72032	D	0.01	.	19.717	0.96124	0.0:1.0:0.0:0.0	.	713;713;804;794;802	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	802;835;804;804;802;802;715;794;713;715;802	ENSP00000380280:E802K;ENSP00000393312:E835K;ENSP00000400162:E804K;ENSP00000340636:E804K;ENSP00000432972:E802K;ENSP00000380302:E802K;ENSP00000348537:E715K;ENSP00000337247:E794K;ENSP00000327229:E713K;ENSP00000380292:E715K;ENSP00000380297:E802K	ENSP00000327229:E713K	E	-	1	0	FGFR1	38390362	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.721000	0.84768	2.661000	0.90470	0.655000	0.94253	GAG	-	FGFR1	-	pirsf_FGF_rcpt_fam		0.662	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		0	0		30	30		0.00		C			38271205	-1	25		24		tier1	no_errors	ENST00000425967	ensembl	human	known	74_37	missense	51.02		SNP	1.000	T	25	24
KRT14	3861	genome.wustl.edu	37	17	39739693	39739693	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39739693C>T	ENST00000167586.6	-	6	1154	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	356	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CCAGGCTGTTCTCCAGGGATG	0.607													ENSG00000186847																																					0													44.0	45.0	44.0					17																	39739693		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1068G>A	17.37:g.39739693C>T			Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.E356	ENST00000167586.6	37	c.1068	CCDS11400.1	17																																																																																			-	KRT14	-	pfam_IF		0.607	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	0	0		46	46		0.00		C	NM_000526		39739693	-1	21		60		tier1	no_errors	ENST00000167586	ensembl	human	known	74_37	silent	25.93		SNP	1.000	T	21	60
ITGAM	3684	genome.wustl.edu	37	16	31277420	31277420	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:31277420G>A	ENST00000287497.8	+	5	454	c.379G>A	c.(379-381)Gga>Aga	p.G127R	RNU7-199P_ENST00000517067.1_RNA|ITGAM_ENST00000544665.3_Missense_Mutation_p.G127R			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	127					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTCCTGTTTGGATCCAACCT	0.607													ENSG00000169896																																					0													67.0	69.0	68.0					16																	31277420		1991	4165	6156	SO:0001583	missense	0			-	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.379G>A	16.37:g.31277420G>A	ENSP00000287497:p.Gly127Arg		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G127R	ENST00000287497.8	37	c.379	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645449	0.67358	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.61392	0.11;0.11	5.33	3.35	0.38373	.	.	.	.	.	T	0.69287	0.3094	M	0.73217	2.22	0.27959	N	0.936869	D;D	0.56035	0.974;0.974	P;P	0.61201	0.885;0.885	T	0.59637	-0.7417	9	0.41790	T	0.15	.	9.7776	0.40630	0.1668:0.0:0.8332:0.0	.	127;127	Q4VAK1;P11215	.;ITAM_HUMAN	R	127	ENSP00000441691:G127R;ENSP00000287497:G127R	ENSP00000287497:G127R	G	+	1	0	ITGAM	31184921	1.000000	0.71417	0.992000	0.48379	0.784000	0.44337	2.742000	0.47434	1.261000	0.44149	0.644000	0.83932	GGA	-	ITGAM	-	NULL		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	0	0		74	74		0.00		G	NM_000632		31277420	+1	36		67		tier1	no_errors	ENST00000544665	ensembl	human	known	74_37	missense	34.95		SNP	0.899	A	36	67
ROBO4	54538	genome.wustl.edu	37	11	124756975	124756975	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:124756975G>A	ENST00000306534.3	-	15	2818	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	ROBO4_ENST00000533054.1_Missense_Mutation_p.S633F|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	778	Pro/Ser-rich.				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)		TGAGGAGCTGGACAGGCGACT	0.652													ENSG00000154133																																					0													38.0	40.0	39.0					11																	124756975		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.2333C>T	11.37:g.124756975G>A	ENSP00000304945:p.Ser778Phe		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.S778F	ENST00000306534.3	37	c.2333	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562324	0.65538	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.81247	-1.47;-0.94	4.77	4.77	0.60923	.	1.303060	0.05819	N	0.615402	D	0.88537	0.6463	M	0.62723	1.935	0.21064	N	0.999799	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.71656	0.961;0.974;0.97	T	0.74087	-0.3778	10	0.72032	D	0.01	.	11.0916	0.48119	0.0911:0.0:0.9089:0.0	.	778;668;778	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	F	778;668;633	ENSP00000304945:S778F;ENSP00000437129:S633F	ENSP00000304945:S778F	S	-	2	0	ROBO4	124262185	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.183000	0.50918	2.216000	0.71823	0.552000	0.68991	TCC	-	ROBO4	-	NULL		0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	0	0		35	35		0.00		G	NM_019055		124756975	-1	12		47		tier1	no_errors	ENST00000306534	ensembl	human	known	74_37	missense	20.34		SNP	1.000	A	12	47
C20orf187	728434	genome.wustl.edu	37	20	11008865	11008865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:11008865C>T	ENST00000378252.1	+	2	203	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	C20orf187_ENST00000537362.1_Nonsense_Mutation_p.Q19*			Q9UGB4	CT187_HUMAN	chromosome 20 open reading frame 187	24																	TAGCCCTGTTCAGAATACAGA	0.363													ENSG00000125899																																					0																																										SO:0001587	stop_gained	0			-	AL050322		20p12.2	2013-01-15			ENSG00000125899	ENSG00000125899			16180	other	unknown							Standard			Approved	dJ727I10.1		Q9UGB4	OTTHUMG00000031881	ENST00000378252.1:c.70C>T	20.37:g.11008865C>T	ENSP00000367499:p.Gln24*			Nonsense_Mutation	SNP	NULL	p.Q24*	ENST00000378252.1	37	c.70		20	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724945	0.48833	.	.	ENSG00000125899	ENST00000378252;ENST00000537362	.	.	.	3.8	-0.0536	0.13817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.8227	0.08842	0.1983:0.5944:0.0:0.2072	.	.	.	.	X	24;19	.	ENSP00000367499:Q24X	Q	+	1	0	C20orf187	10956865	0.002000	0.14202	0.000000	0.03702	0.065000	0.16274	0.081000	0.14823	0.014000	0.14944	0.655000	0.94253	CAG	-	C20orf187	-	NULL		0.363	C20orf187-001	KNOWN	basic|appris_principal	protein_coding	C20orf187	HGNC	protein_coding	OTTHUMT00000078012.1	0	0		50	50		0.00		C			11008865	+1	17		57		tier1	no_errors	ENST00000378252	ensembl	human	known	74_37	nonsense	22.97		SNP	0.000	T	17	57
CLIP2	7461	genome.wustl.edu	37	7	73770747	73770747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:73770747C>T	ENST00000395060.1	+	4	811	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	CLIP2_ENST00000361545.5_Nonsense_Mutation_p.Q271*|CLIP2_ENST00000223398.6_Nonsense_Mutation_p.Q271*			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	271	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CAGGTACTTCCAGTGCCCACC	0.587													ENSG00000106665																																					0													111.0	96.0	101.0					7																	73770747		2203	4300	6503	SO:0001587	stop_gained	0			-	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.811C>T	7.37:g.73770747C>T	ENSP00000378500:p.Gln271*		O14527|O43611	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SRE,pfscan_CAP-Gly_domain	p.Q271*	ENST00000395060.1	37	c.811	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.614821	0.97705	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-51.9321	17.2521	0.87045	0.0:1.0:0.0:0.0	.	.	.	.	X	271	.	ENSP00000223398:Q271X	Q	+	1	0	CLIP2	73408683	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.333000	0.79214	2.644000	0.89710	0.561000	0.74099	CAG	-	CLIP2	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain		0.587	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	0	0		72	72		0.00		C	NM_003388		73770747	+1	21		97		tier1	no_errors	ENST00000223398	ensembl	human	known	74_37	nonsense	17.80		SNP	1.000	T	21	97
TRPC7	57113	genome.wustl.edu	37	5	135692516	135692516	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:135692516C>T	ENST00000513104.1	-	2	842	c.560G>A	c.(559-561)gGc>gAc	p.G187D	TRPC7_ENST00000426057.2_Missense_Mutation_p.G187D|TRPC7_ENST00000355180.3_Missense_Mutation_p.G187D	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	187					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)			GATGCGGGCGCCCTTGAGCAG	0.617													ENSG00000069018																																					0													96.0	104.0	101.0					5																	135692516		2201	4292	6493	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.560G>A	5.37:g.135692516C>T	ENSP00000426070:p.Gly187Asp		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.G187D	ENST00000513104.1	37	c.560	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349737	0.82132	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79033	-1.23;-1.23;-1.23	5.26	5.26	0.73747	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.83384	2.64	0.51233	D	0.999911	D;D;D;D	0.89917	1.0;0.999;0.987;0.995	D;D;D;D	0.87578	0.998;0.98;0.948;0.962	D	0.88397	0.3012	10	0.42905	T	0.14	-17.2625	19.0783	0.93171	0.0:1.0:0.0:0.0	.	187;187;187;187	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	D	187	ENSP00000347312:G187D;ENSP00000441628:G187D;ENSP00000426070:G187D	ENSP00000265193:G187D	G	-	2	0	TRPC7	135720415	1.000000	0.71417	0.994000	0.49952	0.666000	0.39218	7.651000	0.83577	2.731000	0.93534	0.650000	0.86243	GGC	-	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel		0.617	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	0	0		15	15		0.00		C	NM_020389		135692516	-1	12		11		tier1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	52.17		SNP	1.000	T	12	11
CACNA1A	773	genome.wustl.edu	37	19	13368324	13368324	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:13368324C>T	ENST00000360228.5	-	28	4429	c.4430G>A	c.(4429-4431)gGc>gAc	p.G1477D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G1478D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1478					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGCTGGGGCCCTGGTTCTC	0.557													ENSG00000141837																																					0													65.0	60.0	61.0					19																	13368324		1893	4114	6007	SO:0001583	missense	0			-	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4430G>A	19.37:g.13368324C>T	ENSP00000353362:p.Gly1477Asp		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.G1477D	ENST00000360228.5	37	c.4430	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718105	0.68844	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96685	-4.09	5.13	5.13	0.70059	Ion transport (1);	0.133715	0.49305	D	0.000141	D	0.98147	0.9388	M	0.83483	2.645	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	0.99243	1.0885	10	0.87932	D	0	.	17.3526	0.87328	0.0:1.0:0.0:0.0	.	1478;1481;1477	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	1477;1481;1478;1478;94	ENSP00000353362:G1477D	ENSP00000317661:G1478D	G	-	2	0	CACNA1A	13229324	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.757000	0.85209	2.387000	0.81309	0.563000	0.77884	GGC	-	CAC1A	-	pfam_Ion_trans_dom		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CAC1A	HGNC	protein_coding	OTTHUMT00000104062.2	0	0		47	47		0.00		C	NM_000068		13368324	-1	11		40		tier1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	21.15		SNP	1.000	T	11	40
ARPP21	10777	genome.wustl.edu	37	3	35729275	35729275	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:35729275G>A	ENST00000187397.4	+	6	762	c.306G>A	c.(304-306)gaG>gaA	p.E102E	ARPP21_ENST00000417925.1_Silent_p.E102E|ARPP21_ENST00000337271.5_Silent_p.E102E|ARPP21_ENST00000458225.1_Silent_p.E102E|ARPP21_ENST00000444190.1_Silent_p.E102E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	102					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCTGCAAGAGGAGGATAAAT	0.348													ENSG00000172995																																					0													65.0	70.0	68.0					3																	35729275		2199	4296	6495	SO:0001819	synonymous_variant	0			-	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.306G>A	3.37:g.35729275G>A			B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E102	ENST00000187397.4	37	c.306	CCDS2661.1	3																																																																																			-	ARPP21	-	NULL		0.348	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	0	0		139	139		0.00		G	NM_198399		35729275	+1	68		114		tier1	no_errors	ENST00000417925	ensembl	human	known	74_37	silent	36.96		SNP	1.000	A	68	114
VSTM2A	222008	genome.wustl.edu	37	7	54636898	54636898	+	3'UTR	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:54636898C>A	ENST00000407838.3	+	0	1237				VSTM2A_ENST00000402613.3_Missense_Mutation_p.P237T|VSTM2A_ENST00000498834.1_3'UTR|GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000404951.1_Missense_Mutation_p.P306T	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A							extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CCACCCTGCACCCACTGTACT	0.438													ENSG00000170419																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.*120C>A	7.37:g.54636898C>A			A4D2E9|B5MC94	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P306T	ENST00000407838.3	37	c.916	CCDS5512.2	7	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771138	0.69992	.	.	ENSG00000170419	ENST00000404951;ENST00000402613	T;T	0.69561	-0.41;0.69	6.17	6.17	0.99709	.	.	.	.	.	D	0.82879	0.5133	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84007	0.0346	8	0.87932	D	0	7.5147	16.3795	0.83443	0.0:1.0:0.0:0.0	.	306	B5MCX6	.	T	306;237	ENSP00000384701:P306T;ENSP00000384103:P237T	ENSP00000384103:P237T	P	+	1	0	VSTM2A	54604392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.623000	0.67757	2.941000	0.99782	0.655000	0.94253	CCC	-	VSTM2A	-	NULL		0.438	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1	0	0		23	23		0.00		C	NM_182546		54636898	+1	17		30		tier1	no_errors	ENST00000404951	ensembl	human	putative	74_37	missense	36.17		SNP	1.000	A	17	30
ADCY4	196883	genome.wustl.edu	37	14	24795084	24795084	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:24795084C>T	ENST00000310677.4	-	14	1778	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	ADCY4_ENST00000396747.3_Silent_p.K248K|ADCY4_ENST00000554068.2_Silent_p.K555K|ADCY4_ENST00000418030.2_Silent_p.K555K	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	555					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTTCGACTGCTTCCACTGTC	0.572													ENSG00000129467																																					0													79.0	64.0	69.0					14																	24795084		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1665G>A	14.37:g.24795084C>T			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K555	ENST00000310677.4	37	c.1665	CCDS9627.1	14																																																																																			-	ADCY4	-	pfam_Adenylate_cyclase-like		0.572	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	0	0		24	24		0.00		C			24795084	-1	15		4		tier1	no_errors	ENST00000310677	ensembl	human	known	74_37	silent	78.95		SNP	0.975	T	15	4
DNAH10	196385	genome.wustl.edu	37	12	124325906	124325906	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:124325906G>A	ENST00000409039.3	+	29	4845	c.4820G>A	c.(4819-4821)gGc>gAc	p.G1607D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1607	Stem. {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)		TTTAATGACGGCGATAGTGGA	0.522													ENSG00000197653																																					0													228.0	227.0	227.0					12																	124325906		2033	4186	6219	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.4820G>A	12.37:g.124325906G>A	ENSP00000386770:p.Gly1607Asp		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.G1607D	ENST00000409039.3	37	c.4820	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	5.562	0.288519	0.10513	.	.	ENSG00000197653	ENST00000409039	T	0.59502	0.26	5.23	4.3	0.51218	Dynein heavy chain, domain-2 (1);	0.157404	0.41823	U	0.000803	T	0.30510	0.0767	N	0.04162	-0.26	0.48452	D	0.999653	B	0.11235	0.004	B	0.20384	0.029	T	0.09530	-1.0670	10	0.08381	T	0.77	.	9.856	0.41086	0.0757:0.1414:0.7829:0.0	.	1607	Q8IVF4	DYH10_HUMAN	D	1607	ENSP00000386770:G1607D	ENSP00000386770:G1607D	G	+	2	0	DNAH10	122891859	1.000000	0.71417	0.777000	0.31699	0.009000	0.06853	3.761000	0.55242	1.148000	0.42385	0.561000	0.74099	GGC	-	DH10	-	pfam_Dynein_heavy_dom-2		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH10	HGNC	protein_coding	OTTHUMT00000335420.3	0	0		41	41		0.00		G			124325906	+1	10		34		tier1	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	22.73		SNP	0.931	A	10	34
HELQ	113510	genome.wustl.edu	37	4	84339341	84339341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:84339341delC	ENST00000295488.3	-	16	3130	c.2968delG	c.(2968-2970)gttfs	p.V990fs	HELQ_ENST00000510985.1_Frame_Shift_Del_p.V923fs	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	990					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GCTCTGTAAACCCAAAACTCC	0.373								Other identified genes with known or suspected DNA repair function					ENSG00000163312																																					0													121.0	127.0	125.0					4																	84339341		2203	4300	6503	SO:0001589	frameshift_variant	0				AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2968delG	4.37:g.84339341delC	ENSP00000295488:p.Val990fs		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Frame_Shift_Del	DEL	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V990fs	ENST00000295488.3	37	c.2968	CCDS3603.1	4																																																																																				HELQ	-	NULL		0.373	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	0	0		101	101		0.00		C	NM_133636		84339341	-1	34		87		tier1	no_errors	ENST00000295488	ensembl	human	known	74_37	frame_shift_del	28.10		DEL	1.000	-	34	87
MYT1	4661	genome.wustl.edu	37	20	62851279	62851279	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:62851279G>A	ENST00000328439.1	+	13	2549	c.2185G>A	c.(2185-2187)Gac>Aac	p.D729N	MYT1_ENST00000536311.1_Missense_Mutation_p.D756N|MYT1_ENST00000360149.4_Missense_Mutation_p.D431N	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGACGAGTGGGACCGGCCCCT	0.697													ENSG00000196132																									GBM(59;481 1041 20555 21139 33705)												0													16.0	15.0	15.0					20																	62851279		2152	4231	6383	SO:0001583	missense	0			-	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2185G>A	20.37:g.62851279G>A	ENSP00000327465:p.Asp729Asn		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D756N	ENST00000328439.1	37	c.2266	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654284	0.88056	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.49432	0.78;0.78;0.78	5.63	5.63	0.86233	Myelin transcription factor 1 (1);	0.051592	0.85682	D	0.000000	T	0.65923	0.2738	L	0.58101	1.795	0.80722	D	1	D;P;D	0.71674	0.998;0.877;0.978	D;P;P	0.68192	0.956;0.678;0.871	T	0.61907	-0.6966	10	0.38643	T	0.18	-38.0054	19.6809	0.95962	0.0:0.0:1.0:0.0	.	756;729;431	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	N	431;729;756	ENSP00000353269:D431N;ENSP00000327465:D729N;ENSP00000442412:D756N	ENSP00000327465:D729N	D	+	1	0	MYT1	62321723	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.325000	0.96381	2.644000	0.89710	0.655000	0.94253	GAC	-	MYT1	-	pfam_Myelin_TF		0.697	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	0	0		72	72		0.00		G	NM_004535		62851279	+1	26		106		tier1	no_errors	ENST00000536311	ensembl	human	known	74_37	missense	19.70		SNP	1.000	A	26	106
FBXO42	54455	genome.wustl.edu	37	1	16580201	16580201	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16580201G>A	ENST00000375592.3	-	7	1009	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	265										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CACTGCTCAAGGTCAAGGACC	0.517													ENSG00000037637																																					0													66.0	58.0	61.0					1																	16580201		2203	4300	6503	SO:0001583	missense	0			-	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.793C>T	1.37:g.16580201G>A	ENSP00000364742:p.Leu265Phe		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L265F	ENST00000375592.3	37	c.793	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893818	0.91889	.	.	ENSG00000037637	ENST00000375592	T	0.69306	-0.39	5.96	5.96	0.96718	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	L	0.52206	1.635	0.80722	D	1	D	0.63880	0.993	D	0.66084	0.941	T	0.77723	-0.2481	10	0.59425	D	0.04	-15.2888	19.4101	0.94667	0.0:0.0:1.0:0.0	.	265	Q6P3S6	FBX42_HUMAN	F	265	ENSP00000364742:L265F	ENSP00000364742:L265F	L	-	1	0	FBXO42	16452788	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.266000	0.58871	2.832000	0.97577	0.655000	0.94253	CTT	-	FBXO42	-	pfam_Kelch_2,pfam_Kelch_1		0.517	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	0	0		39	39		0.00		G			16580201	-1	24		52		tier1	no_errors	ENST00000375592	ensembl	human	known	74_37	missense	31.17		SNP	1.000	A	24	52
ILF3	3609	genome.wustl.edu	37	19	10798042	10798042	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10798042G>A	ENST00000590261.1	+	17	2080	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	ILF3_ENST00000449870.1_Missense_Mutation_p.G698R|ILF3_ENST00000318511.3_Missense_Mutation_p.G694R|ILF3_ENST00000588657.1_Missense_Mutation_p.G698R			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	694	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CAGCAACGGAGGGCATTCTGG	0.652													ENSG00000129351																																					0													13.0	14.0	14.0					19																	10798042		2134	4113	6247	SO:0001583	missense	0			-	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2080G>A	19.37:g.10798042G>A	ENSP00000468156:p.Gly694Arg		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsR-bd_dom,smart_DZF,smart_dsR-bd_dom,pfscan_dsR-bd_dom	p.G698R	ENST00000590261.1	37	c.2092	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749585	0.69533	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.19669	2.14;2.13	4.92	4.92	0.64577	.	0.256692	0.36482	N	0.002580	T	0.36110	0.0955	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.16424	-1.0403	10	0.87932	D	0	.	17.0382	0.86482	0.0:0.0:1.0:0.0	.	698;694	G5E9M5;Q12906	.;ILF3_HUMAN	R	698;694	ENSP00000404121:G698R;ENSP00000315205:G694R	ENSP00000315205:G694R	G	+	1	0	ILF3	10659042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.152000	0.71812	2.545000	0.85829	0.655000	0.94253	GGG	-	ILF3	-	NULL		0.652	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	0	0		56	56		0.00		G			10798042	+1	16		41		tier1	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	28.07		SNP	1.000	A	16	41
KLHL30	377007	genome.wustl.edu	37	2	239049493	239049493	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:239049493C>T	ENST00000409223.1	+	2	205	c.98C>T	c.(97-99)gCc>gTc	p.A33V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A15V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCAAGCTGGCCGACGTCACA	0.662													ENSG00000168427																																					0													20.0	24.0	23.0					2																	239049493		2130	4243	6373	SO:0001583	missense	0			-		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.98C>T	2.37:g.239049493C>T	ENSP00000386389:p.Ala33Val		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A33V	ENST00000409223.1	37	c.98	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	C	5.181	0.218879	0.09810	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.66099	-0.19;-0.19	5.75	4.88	0.63580	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.257753	0.39475	N	0.001349	T	0.45357	0.1338	N	0.12527	0.23	0.28573	N	0.910526	B	0.09022	0.002	B	0.15484	0.013	T	0.44559	-0.9320	10	0.51188	T	0.08	.	13.7785	0.63069	0.0:0.9249:0.0:0.0751	.	33	Q0D2K2	KLH30_HUMAN	V	33;15	ENSP00000386389:A33V;ENSP00000302386:A15V	ENSP00000302386:A15V	A	+	2	0	KLHL30	238714232	0.997000	0.39634	1.000000	0.80357	0.852000	0.48524	3.208000	0.51114	1.440000	0.47531	0.655000	0.94253	GCC	-	KLHL30	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.662	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	0	0		38	38		0.00		C	NM_198582		239049493	+1	10		54		tier1	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	15.62		SNP	0.997	T	10	54
LRRC7	57554	genome.wustl.edu	37	1	70225939	70225939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:70225939C>T	ENST00000035383.5	+	1	82	c.52C>T	c.(52-54)Cga>Tga	p.R18*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R23*|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R56*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	18						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R18*(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGATGTTTCCGAGGTGAAGA	0.463													ENSG00000033122																																					1	Substitution - Nonsense(1)	large_intestine(1)											55.0	55.0	55.0					1																	70225939		2203	4299	6502	SO:0001587	stop_gained	0			-		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.52C>T	1.37:g.70225939C>T	ENSP00000035383:p.Arg18*		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R18*	ENST00000035383.5	37	c.52	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.052384	0.99050	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8425	0.92189	0.0:1.0:0.0:0.0	.	.	.	.	X	23;56;18;18	.	ENSP00000035383:R18X	R	+	1	2	LRRC7	69998527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	CGA	-	LRRC7	-	NULL		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	0	0		51	51		0.00		C	NM_020794		70225939	+1	21		44		tier1	no_errors	ENST00000035383	ensembl	human	known	74_37	nonsense	32.31		SNP	1.000	T	21	44
NAPSA	9476	genome.wustl.edu	37	19	50865243	50865243	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50865243A>T	ENST00000253719.2	-	3	540	c.332T>A	c.(331-333)tTc>tAc	p.F111Y	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	111					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CACACTGAAGAAGTGGCATCT	0.547													ENSG00000131400																																					0													26.0	24.0	25.0					19																	50865243		2202	4293	6495	SO:0001583	missense	0			-	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.332T>A	19.37:g.50865243A>T	ENSP00000253719:p.Phe111Tyr		Q8WWD9	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.F111Y	ENST00000253719.2	37	c.332	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257992	0.59321	.	.	ENSG00000131400	ENST00000253719	T	0.29397	1.57	3.95	3.95	0.45737	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.096704	0.64402	D	0.000001	T	0.37705	0.1013	L	0.52126	1.63	0.43039	D	0.994622	P	0.51537	0.946	P	0.54060	0.741	T	0.09465	-1.0673	10	0.26408	T	0.33	.	11.0422	0.47838	1.0:0.0:0.0:0.0	.	111	O96009	NAPSA_HUMAN	Y	111	ENSP00000253719:F111Y	ENSP00000253719:F111Y	F	-	2	0	NAPSA	55557055	1.000000	0.71417	0.972000	0.41901	0.814000	0.46013	3.127000	0.50484	1.555000	0.49500	0.397000	0.26171	TTC	-	PSA	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.547	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSA	HGNC	protein_coding	OTTHUMT00000464714.1	0	0		76	76		0.00		A	NM_004851		50865243	-1	18		91		tier1	no_errors	ENST00000253719	ensembl	human	known	74_37	missense	16.51		SNP	1.000	T	18	91
CD207	50489	genome.wustl.edu	37	2	71062847	71062847	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:71062847G>A	ENST00000410009.3	-	1	105	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	20					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GGGGCCAGAGGGAGATGTTCT	0.547													ENSG00000116031																																					0													88.0	98.0	94.0					2																	71062847		2119	4252	6371	SO:0001819	synonymous_variant	0			-	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.60C>T	2.37:g.71062847G>A				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S20	ENST00000410009.3	37	c.60		2																																																																																			-	CD207	-	NULL		0.547	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	0	0		40	40		0.00		G	NM_015717		71062847	-1	11		37		tier1	no_errors	ENST00000410009	ensembl	human	known	74_37	silent	22.92		SNP	1.000	A	11	37
RHOF	54509	genome.wustl.edu	37	12	122235555	122235555	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:122235555G>A	ENST00000545544.1	-	3	737				RP11-347I19.8_ENST00000609067.1_lincRNA|AC084018.1_ENST00000539299.1_lincRNA			Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)						actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CAGCTGGGAGGGAGACGTACA	0.572													ENSG00000272849																																					0																																										SO:0001627	intron_variant	0			-	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000545544.1:c.89+2197C>T	12.37:g.122235555G>A			Q8WVB1|Q9NXH6	R	SNP	-	NULL	ENST00000545544.1	37	NULL		12																																																																																			-	RP11-347I19.8	-	-		0.572	RHOF-005	KNOWN	basic	processed_transcript	ENSG00000272849	Clone_based_vega_gene	protein_coding	OTTHUMT00000471561.1	0	0		27	27		0.00		G			122235555	+1	17		24		tier1	no_errors	ENST00000609067	ensembl	human	known	74_37	rna	41.46		SNP	0.000	A	17	24
LOC285556	285556	genome.wustl.edu	37	4	100572249	100572249	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:100572249G>A	ENST00000511828.1	-	1	3556	c.3557C>T	c.(3556-3558)tCc>tTc	p.S1186F																								TTCTGGGGAGGAAGAATTCAA	0.582													ENSG00000248713																																					0																																										SO:0001583	missense	0			-																												ENST00000511828.1:c.3557C>T	4.37:g.100572249G>A	ENSP00000427555:p.Ser1186Phe			Missense_Mutation	SNP	NULL	p.S1186F	ENST00000511828.1	37	c.3557		4	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167298	0.38315	.	.	ENSG00000248713	ENST00000511828	T	0.39056	1.1	3.82	3.82	0.43975	.	.	.	.	.	T	0.31575	0.0801	N	0.14661	0.345	.	.	.	.	.	.	.	.	.	T	0.45745	-0.9240	6	0.87932	D	0	.	8.4564	0.32901	0.0:0.1655:0.6646:0.1699	.	.	.	.	F	1186	ENSP00000427555:S1186F	ENSP00000427555:S1186F	S	-	2	0	RP11-766F14.2	100791272	0.986000	0.35501	0.841000	0.33234	0.839000	0.47603	3.364000	0.52328	2.148000	0.66965	0.313000	0.20887	TCC	-	RP11-766F14.2	-	NULL		0.582	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	0	0		83	83		0.00		G			100572249	-1	14		99		tier1	no_errors	ENST00000511828	ensembl	human	putative	74_37	missense	12.39		SNP	0.774	A	14	99
DCC	1630	genome.wustl.edu	37	18	51053024	51053024	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:51053024C>T	ENST00000442544.2	+	28	4765	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.S1016S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1383					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)		AAACAGCCTCCCTTGGGTTGG	0.473													ENSG00000187323																																					0													115.0	107.0	110.0					18																	51053024		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.4149C>T	18.37:g.51053024C>T				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.S1383	ENST00000442544.2	37	c.4149	CCDS11952.1	18																																																																																			-	DCC	-	pfam_Neogenin_C		0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	0	0		65	65		0.00		C	NM_005215		51053024	+1	25		25		tier1	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	50.00		SNP	0.980	T	25	25
PSG1	5669	genome.wustl.edu	37	19	43376179	43376179	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:43376179G>A	ENST00000436291.2	-	3	565	c.449C>T	c.(448-450)tCc>tTc	p.S150F	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000244296.2_Missense_Mutation_p.S150F|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.S150F|PSG1_ENST00000312439.6_Missense_Mutation_p.S150F	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	150	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCTGGAGATGGAGGGCTTAGG	0.502													ENSG00000231924																																					0													154.0	147.0	149.0					19																	43376179		2201	4299	6500	SO:0001583	missense	0			-		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.449C>T	19.37:g.43376179G>A	ENSP00000413041:p.Ser150Phe		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S150F	ENST00000436291.2	37	c.449	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	1.679	-0.507005	0.04231	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.12361	2.69;2.69;2.69	1.46	-2.93	0.05598	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10895	0.0266	N	0.12527	0.23	0.09310	N	1	P;P;P;B;B;B;P	0.48407	0.825;0.825;0.669;0.13;0.014;0.104;0.91	P;B;P;B;B;B;P	0.54965	0.765;0.42;0.615;0.171;0.099;0.26;0.604	T	0.13282	-1.0515	9	0.62326	D	0.03	.	2.59	0.04840	0.2107:0.0:0.3872:0.4021	.	150;150;150;150;150;150;150	O75238;P11464-4;P11464;P11464-3;Q9UPK8;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	F	150	ENSP00000413041:S150F;ENSP00000308970:S150F;ENSP00000244296:S150F	ENSP00000244296:S150F	S	-	2	0	PSG1	48068019	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	-2.527000	0.00946	-1.502000	0.01814	0.184000	0.17185	TCC	-	PSG1	-	pfscan_Ig-like_dom		0.502	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	0	0		55	55		0.00		G			43376179	-1	28		27		tier1	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	50.91		SNP	0.000	A	28	27
RP1L1	94137	genome.wustl.edu	37	8	10468038	10468038	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:10468038C>T	ENST00000382483.3	-	4	3793	c.3570G>A	c.(3568-3570)acG>acA	p.T1190T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1190					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGAAGTTCTCCGTCATGGCAT	0.627													ENSG00000183638																																					0													47.0	52.0	50.0					8																	10468038		2130	4236	6366	SO:0001819	synonymous_variant	0			-	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3570G>A	8.37:g.10468038C>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.T1190	ENST00000382483.3	37	c.3570	CCDS43708.1	8																																																																																			-	RP1L1	-	NULL		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	0	0		46	46		0.00		C			10468038	-1	23		26		tier1	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	46.94		SNP	0.000	T	23	26
SLC44A4	80736	genome.wustl.edu	37	6	31842373	31842373	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31842373G>A	ENST00000229729.6	-	7	489				SLC44A4_ENST00000544672.1_Intron|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4						acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACCACCATGGGGCTCAGCCT	0.607													ENSG00000204385																																					0																																										SO:0001627	intron_variant	0			-	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.469-76C>T	6.37:g.31842373G>A			A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	R	SNP	-	NULL	ENST00000229729.6	37	NULL	CCDS4724.2	6																																																																																			-	SLC44A4	-	-		0.607	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	0	0		24	24		0.00		G			31842373	-1	9		22		tier1	no_errors	ENST00000465707	ensembl	human	known	74_37	rna	28.12		SNP	0.004	A	9	22
COL11A2	1302	genome.wustl.edu	37	6	33157101	33157101	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33157101G>A	ENST00000374708.4	-	2	486	c.228C>T	c.(226-228)ttC>ttT	p.F76F	COL11A2_ENST00000374714.1_Silent_p.F76F|COL11A2_ENST00000374712.1_Silent_p.F76F|COL11A2_ENST00000361917.1_Silent_p.F76F|COL11A2_ENST00000357486.1_Silent_p.F76F|COL11A2_ENST00000395197.1_Silent_p.F76F|COL11A2_ENST00000341947.2_Silent_p.F76F|COL11A2_ENST00000374713.1_Silent_p.F76F|COL11A2_ENST00000395194.1_Silent_p.F76F	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	76	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCATACCTGGGAAAAGCTGGC	0.617													ENSG00000204248																									Melanoma(1;90 116 3946 5341 17093)												0													55.0	49.0	51.0					6																	33157101		1511	2709	4220	SO:0001819	synonymous_variant	0			-	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.228C>T	6.37:g.33157101G>A			A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.F76	ENST00000374708.4	37	c.228	CCDS43452.1	6																																																																																			-	COL11A2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	0	0		56	56		0.00		G			33157101	-1	20		57		tier1	no_errors	ENST00000341947	ensembl	human	known	74_37	silent	25.97		SNP	1.000	A	20	57
GGA3	23163	genome.wustl.edu	37	17	73234804	73234804	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73234804G>A	ENST00000245541.6	-	16	2206	c.1990C>T	c.(1990-1992)Ctc>Ttc	p.L664F	GGA3_ENST00000351904.7_Missense_Mutation_p.L631F|GGA3_ENST00000582486.1_Missense_Mutation_p.L592F|GGA3_ENST00000538886.1_Missense_Mutation_p.L542F|GGA3_ENST00000578348.1_Missense_Mutation_p.L542F|GGA3_ENST00000582717.1_Missense_Mutation_p.L592F	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	664	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AATGGAGAGAGTTCTGTCCCA	0.532											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000125447																																					0													115.0	110.0	111.0					17																	73234804		2203	4300	6503	SO:0001583	missense	0			-	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1990C>T	17.37:g.73234804G>A	ENSP00000245541:p.Leu664Phe	1143	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.L664F	ENST00000245541.6	37	c.1990	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007716	0.35415	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.54479	0.57;0.57;0.57	5.23	3.2	0.36748	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.234173	0.36101	N	0.002788	T	0.74913	0.3779	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.988;0.99	T	0.80587	-0.1316	10	0.87932	D	0	-21.4122	12.0928	0.53737	0.1419:0.0:0.8581:0.0	.	542;631;664	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	F	664;631;592;542	ENSP00000245541:L664F;ENSP00000326575:L631F;ENSP00000446421:L542F	ENSP00000245541:L664F	L	-	1	0	GGA3	70746399	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	3.879000	0.56138	1.437000	0.47472	0.557000	0.71058	CTC	-	GGA3	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app		0.532	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	0	0		35	35		0.00		G	NM_138619		73234804	-1	18		37		tier1	no_errors	ENST00000245541	ensembl	human	known	74_37	missense	32.73		SNP	1.000	A	18	37
SENP5	205564	genome.wustl.edu	37	3	196612776	196612776	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:196612776C>T	ENST00000323460.5	+	2	973	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.R242W	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	242					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GATTAGATTTCGGTACAGGAT	0.418													ENSG00000119231																									Ovarian(47;891 1095 11174 13858 51271)												0													42.0	47.0	45.0					3																	196612776		2200	4299	6499	SO:0001583	missense	0			-	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.724C>T	3.37:g.196612776C>T	ENSP00000327197:p.Arg242Trp		B4DY82|Q96SA5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.R242W	ENST00000323460.5	37	c.724	CCDS3322.1	3	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511232	0.64522	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.59364	0.27;0.27	5.58	5.58	0.84498	.	0.339445	0.25487	N	0.030337	T	0.66046	0.2750	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.67548	0.765;0.952	T	0.67814	-0.5573	10	0.87932	D	0	-4.7463	15.4569	0.75321	0.0:1.0:0.0:0.0	.	242;242	B4DY82;Q96HI0	.;SENP5_HUMAN	W	242	ENSP00000327197:R242W;ENSP00000390231:R242W	ENSP00000327197:R242W	R	+	1	2	SENP5	198097173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.224000	0.51238	2.793000	0.96121	0.655000	0.94253	CGG	-	SENP5	-	NULL		0.418	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP5	HGNC	protein_coding	OTTHUMT00000340524.1	0	0		41	41		0.00		C	NM_152699		196612776	+1	16		41		tier1	no_errors	ENST00000323460	ensembl	human	known	74_37	missense	28.07		SNP	1.000	T	16	41
FLNC	2318	genome.wustl.edu	37	7	128493887	128493887	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:128493887C>T	ENST00000325888.8	+	39	6741	c.6480C>T	c.(6478-6480)atC>atT	p.I2160I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2127I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2160					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCTCAAGATCCCAGGTAGAA	0.682													ENSG00000128591																																					0													29.0	36.0	34.0					7																	128493887		2056	4191	6247	SO:0001819	synonymous_variant	0			-	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6480C>T	7.37:g.128493887C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I2160	ENST00000325888.8	37	c.6480	CCDS43644.1	7																																																																																			-	FLNC	-	NULL		0.682	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	0	0		46	46		0.00		C			128493887	+1	28		56		tier1	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	33.33		SNP	1.000	T	28	56
SCARF1	8578	genome.wustl.edu	37	17	1538895	1538895	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:1538895G>A	ENST00000263071.4	-	11	1699	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A	SCARF1_ENST00000348987.3_Silent_p.A464A|SCARF1_ENST00000571272.1_Missense_Mutation_p.P538L	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	550	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCTGCCTGGGCCACAGGGA	0.652													ENSG00000074660																																					0													17.0	19.0	19.0					17																	1538895		2168	4253	6421	SO:0001819	synonymous_variant	0			-	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1650C>T	17.37:g.1538895G>A			A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P538L	ENST00000263071.4	37	c.1613	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	3.174	-0.169448	0.06461	.	.	ENSG00000074660	ENST00000434376	.	.	.	5.21	0.175	0.15045	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.20739	-1.0266	7	0.46703	T	0.11	-1.0089	3.6985	0.08374	0.1639:0.1231:0.5708:0.1422	.	538	Q14162-3	.	L	538	.	ENSP00000411167:P538L	P	-	2	0	SCARF1	1485645	0.002000	0.14202	0.052000	0.19188	0.231000	0.25187	0.363000	0.20301	0.181000	0.19994	0.555000	0.69702	CCC	-	SCARF1	-	NULL		0.652	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	0	0		25	25		0.00		G	NM_003693		1538895	-1	8		15		tier1	no_errors	ENST00000571272	ensembl	human	known	74_37	missense	34.78		SNP	0.000	A	8	15
PAX1	5075	genome.wustl.edu	37	20	21695441	21695441	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:21695441G>A	ENST00000398485.2	+	5	1659	c.1605G>A	c.(1603-1605)taG>taA	p.*535*	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	0					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TTGGGTTTTAGACTGCCGTAC	0.567													ENSG00000125813																																					0													63.0	55.0	58.0					20																	21695441		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1605G>A	20.37:g.21695441G>A			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.*535	ENST00000398485.2	37	c.1605	CCDS13146.2	20																																																																																			-	PAX1	-	NULL		0.567	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	0	0		27	27		0.00		G			21695441	+1	6		31		tier1	no_errors	ENST00000398485	ensembl	human	known	74_37	silent	16.22		SNP	0.000	A	6	31
ZNF831	128611	genome.wustl.edu	37	20	57828127	57828127	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:57828127C>T	ENST00000371030.2	+	4	4122	c.4122C>T	c.(4120-4122)acC>acT	p.T1374T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1374							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGACAAACCTTAGGAACCC	0.473													ENSG00000124203																																					0													123.0	121.0	121.0					20																	57828127		1951	4146	6097	SO:0001819	synonymous_variant	0			-	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4122C>T	20.37:g.57828127C>T			Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1374	ENST00000371030.2	37	c.4122	CCDS42894.1	20																																																																																			-	ZNF831	-	NULL		0.473	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	0	0		35	35		0.00		C	NM_178457		57828127	+1	18		49		tier1	no_errors	ENST00000371030	ensembl	human	novel	74_37	silent	26.47		SNP	0.002	T	18	49
EPM2AIP1	9852	genome.wustl.edu	37	3	37033458	37033458	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:37033458G>A	ENST00000322716.5	-	1	1337	c.1111C>T	c.(1111-1113)Cac>Tac	p.H371Y	MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	371					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.H371N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TCTGAGAAGTGGACTGTTGTT	0.393													ENSG00000178567																																					1	Substitution - Missense(1)	lung(1)											194.0	196.0	196.0					3																	37033458		1897	4126	6023	SO:0001583	missense	0			-	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1111C>T	3.37:g.37033458G>A	ENSP00000406027:p.His371Tyr		O94866|Q9H3L3	Missense_Mutation	SNP	NULL	p.H371Y	ENST00000322716.5	37	c.1111	CCDS46790.1	3	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220533	0.58560	.	.	ENSG00000178567	ENST00000322716	T	0.30448	1.53	4.64	4.64	0.57946	.	.	.	.	.	T	0.18841	0.0452	N	0.03608	-0.345	0.28825	N	0.897473	P	0.52316	0.952	P	0.50049	0.629	T	0.02404	-1.1164	9	0.02654	T	1	-20.128	15.051	0.71867	0.0:0.0:1.0:0.0	.	371	Q7L775	EPMIP_HUMAN	Y	371	ENSP00000406027:H371Y	ENSP00000406027:H371Y	H	-	1	0	EPM2AIP1	37008462	0.971000	0.33674	0.999000	0.59377	0.924000	0.55760	3.238000	0.51352	2.395000	0.81488	0.655000	0.94253	CAC	-	EPM2AIP1	-	NULL		0.393	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1	0	0		32	32		0.00		G	NM_014805		37033458	-1	11		32		tier1	no_errors	ENST00000322716	ensembl	human	known	74_37	missense	25.58		SNP	0.997	A	11	32
CHD4	1108	genome.wustl.edu	37	12	6692433	6692433	+	Nonsense_Mutation	SNP	G	G	A	rs374465950		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6692433G>A	ENST00000357008.2	-	26	4154	c.3991C>T	c.(3991-3993)Cga>Tga	p.R1331*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.R1324*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.R1328*|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Nonsense_Mutation_p.R1331*|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1331					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCCAGATTTCGGGCTAGATCT	0.522													ENSG00000111642																									Colon(32;586 792 4568 16848 45314)												0													210.0	202.0	205.0					12																	6692433		2203	4300	6503	SO:0001587	stop_gained	0			-	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3991C>T	12.37:g.6692433G>A	ENSP00000349508:p.Arg1331*		Q8IXZ5	Nonsense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1331*	ENST00000357008.2	37	c.3991	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.848031	0.99477	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3441	16.047	0.80725	0.0:0.0:0.8579:0.1421	.	.	.	.	X	1328;1324;1331;1331;1305	.	ENSP00000312419:R1331X	R	-	1	2	CHD4	6562694	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.295000	0.72744	2.832000	0.97577	0.655000	0.94253	CGA	-	CHD4	-	pfam_DUF1087		0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		0	0		49	49		0.00		G	NM_001273		6692433	-1	27		22		tier1	no_errors	ENST00000309577	ensembl	human	known	74_37	nonsense	54.00		SNP	1.000	A	27	22
UHRF1BP1	54887	genome.wustl.edu	37	6	34827037	34827037	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:34827037C>T	ENST00000192788.5	+	14	3075	c.2904C>T	c.(2902-2904)ggC>ggT	p.G968G	UHRF1BP1_ENST00000452449.2_Silent_p.G968G	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	968							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGGAAGGGCCATGAGGCAG	0.562													ENSG00000065060																																					0													38.0	41.0	40.0					6																	34827037		2047	4200	6247	SO:0001819	synonymous_variant	0			-	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2904C>T	6.37:g.34827037C>T			Q9NXE0	Silent	SNP	NULL	p.G968	ENST00000192788.5	37	c.2904	CCDS43455.1	6																																																																																			-	UHRF1BP1	-	NULL		0.562	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	0	0		35	35		0.00		C	NM_017754		34827037	+1	8		42		tier1	no_errors	ENST00000192788	ensembl	human	known	74_37	silent	15.69		SNP	0.998	T	8	42
HDLBP	3069	genome.wustl.edu	37	2	242168891	242168891	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:242168891C>T	ENST00000391975.1	-	0	4159				HDLBP_ENST00000391976.2_3'UTR|HDLBP_ENST00000310931.4_3'UTR|HDLBP_ENST00000427183.2_3'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein						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)		CCCTGCGGGACCTCGGGAAGG	0.617													ENSG00000115677																																					0																																										SO:0001624	3_prime_UTR_variant	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.*125G>A	2.37:g.242168891C>T			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	R	SNP	-	NULL	ENST00000391975.1	37	NULL	CCDS2547.1	2																																																																																			-	HDLBP	-	-		0.617	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	0	0		40	40		0.00		C	NM_203346		242168891	-1	17		21		tier1	no_errors	ENST00000484412	ensembl	human	putative	74_37	rna	44.74		SNP	0.999	T	17	21
ITPK1	3705	genome.wustl.edu	37	14	93537235	93537235	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:93537235G>A	ENST00000267615.6	-	3	294				ITPK1-AS1_ENST00000553639.1_RNA|ITPK1_ENST00000555495.1_Intron|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Intron			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AGCACTCAGTGAGACCAACTC	0.577													ENSG00000258730																																					0													85.0	77.0	80.0					14																	93537235		692	1591	2283	SO:0001627	intron_variant	0			-	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.120+5704C>T	14.37:g.93537235G>A			Q9BTL6|Q9H2E7	R	SNP	-	NULL	ENST00000267615.6	37	NULL	CCDS9907.1	14																																																																																			-	ITPK1-AS1	-	-		0.577	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1-AS1	HGNC	protein_coding	OTTHUMT00000412421.2	0	0		33	33		0.00		G	NM_014216		93537235	+1	10		19		tier1	no_errors	ENST00000553639	ensembl	human	known	74_37	rna	34.48		SNP	0.000	A	10	19
IGSF10	285313	genome.wustl.edu	37	3	151163068	151163069	+	Frame_Shift_Ins	INS	-	-	G	rs112622384		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:151163068_151163069insG	ENST00000282466.3	-	4	4699_4700	c.4700_4701insC	c.(4699-4701)ccafs	p.P1567fs		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	1567					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)			CCCAGGGAGATGGAGTTAATTT	0.401													ENSG00000152580																																					0																																										SO:0001589	frameshift_variant	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.4701dupC	3.37:g.151163070_151163070dupG	ENSP00000282466:p.Pro1567fs		Q86YJ9|Q8N772|Q8NA84	Frame_Shift_Ins	INS	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.S1568fs	ENST00000282466.3	37	c.4701_4700	CCDS3160.1	3																																																																																				IGSF10	-	NULL		0.401	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	0	0		57	57		0.00		-	NM_178822		151163069	-1	14		53		tier1	no_errors	ENST00000282466	ensembl	human	known	74_37	frame_shift_ins	20.90		INS	0.000:0.003	G	14	53
LOC728554	728554	genome.wustl.edu	37	5	177310736	177310736	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:177310736C>T	ENST00000506672.1	+	0	1033					NR_003615.2																						CAAAAGGCCTCTGCTGGCATT	0.488													ENSG00000170089																																					0																																												0			-																													5.37:g.177310736C>T				R	SNP	-	NULL	ENST00000506672.1	37	NULL		5																																																																																			-	RP11-423H2.1	-	-		0.488	RP11-423H2.1-002	KNOWN	basic	processed_transcript	LOC728554	Clone_based_vega_gene	pseudogene	OTTHUMT00000373226.1	0	0		45	45		0.00		C			177310736	+1	14		54		tier1	no_errors	ENST00000506672	ensembl	human	known	74_37	rna	20.59		SNP	1.000	T	14	54
AL359195.1	0	genome.wustl.edu	37	10	82012940	82012940	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:82012940C>T	ENST00000356374.4	+	1	3475	c.458C>T	c.(457-459)tCc>tTc	p.S153F																								TGTCTTCCCTCCAGGACCTCA	0.507													ENSG00000204038																																					0																																										SO:0001583	missense	0			-																												ENST00000356374.4:c.458C>T	10.37:g.82012940C>T	ENSP00000348738:p.Ser153Phe			Missense_Mutation	SNP	NULL	p.S153F	ENST00000356374.4	37	c.458		10	.	.	.	.	.	.	.	.	.	.	c	2.650	-0.282215	0.05642	.	.	ENSG00000204038	ENST00000356374	.	.	.	0.92	-0.364	0.12553	.	.	.	.	.	T	0.42086	0.1187	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50575	-0.8812	4	0.59425	D	0.04	.	4.3442	0.11124	0.0:0.6815:0.0:0.3185	.	.	.	.	F	153	.	ENSP00000348738:S153F	S	+	2	0	AL359195.1	82002920	0.000000	0.05858	0.021000	0.16686	0.021000	0.10359	-0.014000	0.12656	0.191000	0.20236	0.194000	0.17425	TCC	-	AL359195.1	-	NULL		0.507	AL359195.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000204038	Clone_based_ensembl_gene	protein_coding		0	0		23	23		0.00		C			82012940	+1	22		13		tier1	no_errors	ENST00000356374	ensembl	human	known	74_37	missense	62.86		SNP	0.003	T	22	13
CSPG5	10675	genome.wustl.edu	37	3	47618964	47618964	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47618964G>A	ENST00000383738.2	-	2	2650	c.552C>T	c.(550-552)ccC>ccT	p.P184P	CSPG5_ENST00000264723.4_Silent_p.P184P|CSPG5_ENST00000456150.1_Silent_p.P46P|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	184					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTTGAGGGTCGGGTGTGCTGC	0.617													ENSG00000114646																																					0													38.0	43.0	41.0					3																	47618964		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.552C>T	3.37:g.47618964G>A			Q71M39|Q71M40	Silent	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.P184	ENST00000383738.2	37	c.552	CCDS56253.1	3																																																																																			-	CSPG5	-	pfam_Chon_Sulph_att		0.617	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	0	0		83	83		0.00		G	NM_006574		47618964	-1	48		82		tier1	no_errors	ENST00000383738	ensembl	human	known	74_37	silent	36.92		SNP	0.385	A	48	82
ASPH	444	genome.wustl.edu	37	8	62430152	62430152	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:62430152G>A	ENST00000379454.4	-	24	2248	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L	ASPH_ENST00000541428.1_Silent_p.L658L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	687					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGTGCATTCGGAGCCTGCAGT	0.532													ENSG00000198363																																					0													133.0	110.0	118.0					8																	62430152		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2061C>T	8.37:g.62430152G>A			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L687	ENST00000379454.4	37	c.2061	CCDS34898.1	8																																																																																			-	ASPH	-	pfam_Asp_Arg_b-Hydrxlase		0.532	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	0	0		60	60		0.00		G	NM_004318		62430152	-1	16		49		tier1	no_errors	ENST00000379454	ensembl	human	known	74_37	silent	24.24		SNP	0.995	A	16	49
MAGEA6	4105	genome.wustl.edu	37	X	151869463	151869463	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:151869463G>A	ENST00000329342.5	+	3	378	c.153G>A	c.(151-153)ggG>ggA	p.G51G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	51										breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCACCCTGGGGGAGGTGCCTG	0.632													ENSG00000197172																																					0													4.0	5.0	5.0					X																	151869463		1854	3730	5584	SO:0001819	synonymous_variant	0			-		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.153G>A	X.37:g.151869463G>A			A8IF93|Q6NW44	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G51	ENST00000329342.5	37	c.153	CCDS14708.1	X																																																																																			-	MAGEA6	-	pfam_Melanoma_ass_antigen_N		0.632	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	0	0		14	14		0.00		G	NM_005363		151869463	+1	14		5		tier1	no_errors	ENST00000329342	ensembl	human	known	74_37	silent	73.68		SNP	0.009	A	14	5
EGF	1950	genome.wustl.edu	37	4	110880580	110880580	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:110880580G>A	ENST00000265171.5	+	6	1498	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R	EGF_ENST00000509793.1_Intron|EGF_ENST00000503392.1_Silent_p.R351R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	351	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTCGAGACCGGAAGTACTGTG	0.517													ENSG00000138798																																					0													140.0	110.0	120.0					4																	110880580		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1053G>A	4.37:g.110880580G>A			B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.R351	ENST00000265171.5	37	c.1053	CCDS3689.1	4																																																																																			-	EGF	-	pirsf_Pro-epidermal_GF,smart_EG-like_dom		0.517	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	0	0		71	71		0.00		G			110880580	+1	26		50		tier1	no_errors	ENST00000265171	ensembl	human	known	74_37	silent	34.21		SNP	0.068	A	26	50
MEX3D	399664	genome.wustl.edu	37	19	1555363	1555363	+	3'UTR	SNP	G	G	A	rs538833811	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1555363G>A	ENST00000402693.4	-	0	2154				MEX3D_ENST00000388824.6_Silent_p.P656P|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D						mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCGCCGCCGGGCTGCGGGG	0.577													ENSG00000181588																																					0													31.0	37.0	35.0					19																	1555363		2201	4298	6499	SO:0001624	3_prime_UTR_variant	0			-	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.*199C>T	19.37:g.1555363G>A			A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.P656	ENST00000402693.4	37	c.1968	CCDS32865.2	19																																																																																			-	MEX3D	-	NULL		0.577	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2	0	0		44	44		0.00		G	NM_203304		1555363	-1	12		44		tier1	no_errors	ENST00000388824	ensembl	human	known	74_37	silent	21.43		SNP	0.003	A	12	44
MGLL	11343	genome.wustl.edu	37	3	127434383	127434383	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:127434383C>T	ENST00000434178.2	-	6	1377				MGLL_ENST00000398104.1_Intron|MGLL_ENST00000265052.5_Intron|MGLL_ENST00000476682.1_5'Flank|MGLL_ENST00000398101.3_Intron|MGLL_ENST00000453507.2_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase						acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						ATCCCCTTTCCCTGCTGCTCT	0.473													ENSG00000074416																																					0																																										SO:0001627	intron_variant	0			-	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.481-4875G>A	3.37:g.127434383C>T			B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	R	SNP	-	NULL	ENST00000434178.2	37	NULL	CCDS43148.1	3																																																																																			-	MGLL	-	-		0.473	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGLL	HGNC	protein_coding	OTTHUMT00000356637.2	0	0		22	22		0.00		C	NM_007283		127434383	-1	8		12		tier1	no_errors	ENST00000479967	ensembl	human	known	74_37	rna	40.00		SNP	0.002	T	8	12
ERCC6L2	375748	genome.wustl.edu	37	9	98718251	98718251	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:98718251G>A	ENST00000288985.7	+	13	2241	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.G457R	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	646	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GATATCCTTGGGAACTGTGGA	0.338													ENSG00000182150																																					0													151.0	144.0	146.0					9																	98718251		2203	4299	6502	SO:0001583	missense	0			-	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1936G>A	9.37:g.98718251G>A	ENSP00000288985:p.Gly646Arg		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G457R	ENST00000288985.7	37	c.1369	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544860	0.86022	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	T;T	0.78126	-1.15;-1.15	4.97	4.97	0.65823	Helicase, C-terminal (1);	0.000000	0.48767	D	0.000179	D	0.90242	0.6949	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91958	0.5576	10	0.87932	D	0	-21.9053	17.529	0.87808	0.0:0.0:1.0:0.0	.	457;646	Q5T890-2;Q5T890	.;RAD26_HUMAN	R	646;457	ENSP00000288985:G646R;ENSP00000416286:G457R	ENSP00000288985:G646R	G	+	1	0	C9orf102	97758072	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.166000	0.89665	2.732000	0.93576	0.650000	0.86243	GGA	-	ERCC6L2	-	pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C		0.338	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	0	0		126	126		0.00		G	NM_001010895		98718251	+1	17		105		tier1	no_errors	ENST00000437817	ensembl	human	known	74_37	missense	13.82		SNP	1.000	A	17	105
SIGLEC1	6614	genome.wustl.edu	37	20	3677343	3677343	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3677343G>A	ENST00000344754.4	-	10	2572	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S858F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	858	Ig-like C2-type 8.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TAACTTCAGGGAGTTGGCCTC	0.592													ENSG00000088827																																					0													80.0	78.0	78.0					20																	3677343		2203	4300	6503	SO:0001583	missense	0			-	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2573C>T	20.37:g.3677343G>A	ENSP00000341141:p.Ser858Phe		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S858F	ENST00000344754.4	37	c.2573	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315573	0.23908	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.74947	-0.89;-0.89	5.03	2.07	0.26955	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.750787	0.11490	N	0.558803	T	0.60996	0.2312	L	0.27053	0.805	0.30697	N	0.750708	B;B	0.16802	0.019;0.007	B;B	0.20955	0.032;0.009	T	0.57057	-0.7876	10	0.48119	T	0.1	.	8.4882	0.33084	0.2546:0.0:0.7454:0.0	.	858;858	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	F	858	ENSP00000341141:S858F;ENSP00000202578:S858F	ENSP00000202578:S858F	S	-	2	0	SIGLEC1	3625343	1.000000	0.71417	0.993000	0.49108	0.433000	0.31745	2.361000	0.44160	0.321000	0.23259	0.655000	0.94253	TCC	-	SIGLEC1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.592	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	0	0		79	79		0.00		G	NM_023068		3677343	-1	43		68		tier1	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	38.74		SNP	1.000	A	43	68
AHNAK	79026	genome.wustl.edu	37	11	62287632	62287632	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62287632G>A	ENST00000378024.4	-	5	14531	c.14257C>T	c.(14257-14259)Cca>Tca	p.P4753S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4753					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGCTTCTGGGCCCTTGAGG	0.507													ENSG00000124942																																					0													168.0	161.0	163.0					11																	62287632		2202	4299	6501	SO:0001583	missense	0			-	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14257C>T	11.37:g.62287632G>A	ENSP00000367263:p.Pro4753Ser		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P4753S	ENST00000378024.4	37	c.14257	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164920	0.57476	.	.	ENSG00000124942	ENST00000378024	T	0.05649	3.41	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000001	T	0.40670	0.1126	H	0.97806	4.08	0.39859	D	0.973342	D	0.89917	1.0	D	0.91635	0.999	T	0.62695	-0.6800	10	0.30854	T	0.27	-9.6623	17.4612	0.87620	0.0:0.0:1.0:0.0	.	4753	Q09666	AHNK_HUMAN	S	4753	ENSP00000367263:P4753S	ENSP00000367263:P4753S	P	-	1	0	AHNAK	62044208	0.000000	0.05858	0.457000	0.27056	0.779000	0.44077	-0.606000	0.05654	2.206000	0.71126	0.478000	0.44815	CCA	-	AHK	-	NULL		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHK	HGNC	protein_coding	OTTHUMT00000395572.1	0	0		153	153		0.00		G	NM_024060		62287632	-1	61		120		tier1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	33.70		SNP	0.950	A	61	120
PEG3	5178	genome.wustl.edu	37	19	57326065	57326065	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57326065C>T	ENST00000326441.9	-	10	4108	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1249K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1123K|PEG3_ENST00000598410.1_Missense_Mutation_p.E1125K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1249					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAATCATCTTCCCTATGAAGT	0.488													ENSG00000198300																																					0													49.0	44.0	46.0					19																	57326065		2203	4300	6503	SO:0001583	missense	0			-	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3745G>A	19.37:g.57326065C>T	ENSP00000326581:p.Glu1249Lys		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1249K	ENST00000326441.9	37	c.3745	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881838	0.33255	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	4.06	3.03	0.35002	Zinc finger, C2H2 (1);	0.464248	0.18333	N	0.144409	T	0.02012	0.0063	N	0.14661	0.345	.	.	.	B;P;P	0.40000	0.063;0.682;0.698	B;B;B	0.35312	0.026;0.15;0.2	T	0.42932	-0.9422	9	0.51188	T	0.08	-15.8613	10.287	0.43573	0.0:0.9011:0.0:0.0989	.	1125;1249;1184	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1249	ENSP00000326581:E1249K;ENSP00000403051:E1249K	ENSP00000326581:E1249K	E	-	1	0	ZIM2	62017877	0.000000	0.05858	0.020000	0.16555	0.684000	0.39900	0.060000	0.14342	1.295000	0.44724	0.655000	0.94253	GAA	-	PEG3	-	pfscan_Znf_C2H2		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	0	0		38	38		0.00		C			57326065	-1	8		20		tier1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	28.57		SNP	0.348	T	8	20
TAGAP	117289	genome.wustl.edu	37	6	159457214	159457214	+	Missense_Mutation	SNP	G	G	A	rs369625327		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:159457214G>A	ENST00000367066.3	-	10	2172	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.T436I|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	614					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTCCCCACGGTCTGGCTCTC	0.642													ENSG00000164691																																					0													44.0	46.0	45.0					6																	159457214		2203	4300	6503	SO:0001583	missense	0			-	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1841C>T	6.37:g.159457214G>A	ENSP00000356033:p.Thr614Ile		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T614I	ENST00000367066.3	37	c.1841	CCDS5261.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.03|10.03	1.239141|1.239141	0.22711|0.22711	.|.	.|.	ENSG00000164691|ENSG00000164691	ENST00000539071|ENST00000367066;ENST00000326965	.|T;T	.|0.23552	.|1.9;2.15	2.87|2.87	1.98|1.98	0.26296|0.26296	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.35982	.|0.531	.|B	.|0.26094	.|0.066	T|T	0.32481|0.32481	-0.9905|-0.9905	6|10	0.87932|0.59425	D|D	0|0.04	.|.	6.9369|6.9369	0.24470|0.24470	0.0:0.0:0.7274:0.2726|0.0:0.0:0.7274:0.2726	.|.	.|614	.|Q8N103	.|TAGAP_HUMAN	S|I	272|614;436	.|ENSP00000356033:T614I;ENSP00000322650:T436I	ENSP00000441966:P272S|ENSP00000322650:T436I	P|T	-|-	1|2	0|0	TAGAP|TAGAP	159377202|159377202	0.721000|0.721000	0.28007|0.28007	0.890000|0.890000	0.34922|0.34922	0.049000|0.049000	0.14656|0.14656	-0.571000|-0.571000	0.05889|0.05889	0.407000|0.407000	0.25591|0.25591	-0.823000|-0.823000	0.03104|0.03104	CCG|ACC	-	TAGAP	-	NULL		0.642	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	0	0		16	16		0.00		G	NM_054114		159457214	-1	7		11		tier1	no_errors	ENST00000367066	ensembl	human	known	74_37	missense	38.89		SNP	0.778	A	7	11
FAM169A	26049	genome.wustl.edu	37	5	74137459	74137459	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:74137459C>T	ENST00000389156.4	-	2	133	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	FAM169A_ENST00000510496.1_Missense_Mutation_p.E15K|FAM169A_ENST00000380515.3_Missense_Mutation_p.E15K	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	15						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTTTCCAATTCCTCATGGCTG	0.393													ENSG00000198780																																					0													102.0	93.0	96.0					5																	74137459		1846	4100	5946	SO:0001583	missense	0			-		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.43G>A	5.37:g.74137459C>T	ENSP00000373808:p.Glu15Lys		A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	NULL	p.E15K	ENST00000389156.4	37	c.43	CCDS43330.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381059	0.82792	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000380515;ENST00000513277;ENST00000514200;ENST00000506954	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.61	5.61	0.85477	.	0.162433	0.38548	N	0.001646	T	0.38692	0.1050	L	0.50333	1.59	0.53688	D	0.999977	P;P	0.43352	0.804;0.804	B;B	0.43103	0.386;0.408	T	0.07868	-1.0750	10	0.14252	T	0.57	-13.8808	19.631	0.95701	0.0:1.0:0.0:0.0	.	15;15	D6RB01;Q9Y6X4	.;F169A_HUMAN	K	15	ENSP00000373808:E15K;ENSP00000424578:E15K;ENSP00000369886:E15K;ENSP00000423631:E15K;ENSP00000423883:E15K;ENSP00000421451:E15K	ENSP00000369886:E15K	E	-	1	0	FAM169A	74173215	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.437000	0.52863	2.635000	0.89317	0.585000	0.79938	GAA	-	FAM169A	-	NULL		0.393	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169A	HGNC	protein_coding	OTTHUMT00000371092.2	0	0		74	74		0.00		C			74137459	-1	39		50		tier1	no_errors	ENST00000389156	ensembl	human	known	74_37	missense	43.33		SNP	1.000	T	39	50
SIGIRR	59307	genome.wustl.edu	37	11	405992	405992	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:405992C>T	ENST00000431843.2	-	10	1443	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	SIGIRR_ENST00000332725.3_Silent_p.E379E|SIGIRR_ENST00000531205.1_Missense_Mutation_p.E476K|SIGIRR_ENST00000382520.2_Missense_Mutation_p.E476K|SIGIRR_ENST00000397632.3_Silent_p.E379E|SIGIRR_ENST00000529486.1_5'Flank	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	379					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTCCGGCTCTCTCCCAGCG	0.632													ENSG00000185187																																					0													43.0	36.0	38.0					11																	405992		2198	4291	6489	SO:0001819	synonymous_variant	0			-		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1137G>A	11.37:g.405992C>T			Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.E476K	ENST00000431843.2	37	c.1426	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.45|14.45	2.538804|2.538804	0.45176|0.45176	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000531205;ENST00000382520|ENST00000526395	T;T|.	0.03920|.	3.76;3.76|.	3.56|3.56	2.61|2.61	0.31194|0.31194	.|.	.|.	.|.	.|.	.|.	T|T	0.25717|0.25717	0.0626|0.0626	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.14587|0.14587	-1.0467|-1.0467	8|4	0.87932|.	D|.	0|.	.|.	4.6317|4.6317	0.12506|0.12506	0.0:0.5946:0.2044:0.2009|0.0:0.5946:0.2044:0.2009	.|.	476|.	C9JFX4|.	.|.	K|K	476|111	ENSP00000433022:E476K;ENSP00000371960:E476K|.	ENSP00000371960:E476K|.	E|R	-|-	1|2	0|0	SIGIRR|SIGIRR	395992|395992	0.000000|0.000000	0.05858|0.05858	0.119000|0.119000	0.21687|0.21687	0.854000|0.854000	0.48673|0.48673	-0.443000|-0.443000	0.06862|0.06862	1.743000|1.743000	0.51761|0.51761	0.485000|0.485000	0.47835|0.47835	GAG|AGA	-	SIGIRR	-	NULL		0.632	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	0	0		71	71		0.00		C	NM_021805		405992	-1	24		56		tier1	no_errors	ENST00000382520	ensembl	human	known	74_37	missense	30.00		SNP	0.081	T	24	56
HAP1	9001	genome.wustl.edu	37	17	39888487	39888487	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39888487C>T	ENST00000310778.5	-	3	718	c.709G>A	c.(709-711)Gag>Aag	p.E237K	RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Missense_Mutation_p.E237K|HAP1_ENST00000341193.5_Missense_Mutation_p.E245K|HAP1_ENST00000393939.2_Missense_Mutation_p.E237K|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	237	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTTACCTCCTCCTTGGCTGAG	0.607													ENSG00000173805																																					0													66.0	64.0	64.0					17																	39888487		2203	4300	6503	SO:0001583	missense	0			-	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.709G>A	17.37:g.39888487C>T	ENSP00000309392:p.Glu237Lys		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.E237K	ENST00000310778.5	37	c.709		17	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096423	0.36952	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	3.79	2.81	0.32909	.	0.172190	0.28119	N	0.016521	T	0.20820	0.0501	M	0.64170	1.965	0.43719	D	0.996191	P;P;B;B	0.35155	0.487;0.487;0.336;0.387	B;B;B;B	0.34873	0.122;0.122;0.12;0.191	T	0.04268	-1.0964	10	0.87932	D	0	-18.7955	7.637	0.28272	0.0:0.8805:0.0:0.1195	.	237;245;237;237	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	237;237;237;245	ENSP00000377513:E237K;ENSP00000309392:E237K;ENSP00000334002:E237K;ENSP00000343170:E245K	ENSP00000309392:E237K	E	-	1	0	HAP1	37142013	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	2.456000	0.44997	0.928000	0.37168	0.561000	0.74099	GAG	-	HAP1	-	pfam_HAP1_N		0.607	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	0	0		73	73		0.00		C	NM_003949		39888487	-1	33		69		tier1	no_errors	ENST00000310778	ensembl	human	known	74_37	missense	32.35		SNP	1.000	T	33	69
CCDC57	284001	genome.wustl.edu	37	17	80115649	80115649	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:80115649G>A	ENST00000389641.4	-	14	2252	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.S739L|RP11-1376P16.2_ENST00000579979.1_RNA|CCDC57_ENST00000392347.1_Missense_Mutation_p.S739L			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	739										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CACGGCGTCCGAGGCTGGGGG	0.667													ENSG00000176155																																					0													19.0	25.0	23.0					17																	80115649		2025	4168	6193	SO:0001583	missense	0			-	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2216C>T	17.37:g.80115649G>A	ENSP00000374292:p.Ser739Leu		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.S739L	ENST00000389641.4	37	c.2216		17	.	.	.	.	.	.	.	.	.	.	G	8.331	0.826551	0.16749	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.24538	3.08;3.08;1.85	2.61	1.61	0.23674	.	4.260430	0.00775	N	0.001229	T	0.21103	0.0508	L	0.36672	1.1	0.09310	N	1	B;B	0.23490	0.022;0.086	B;B	0.10450	0.003;0.005	T	0.13710	-1.0499	10	0.28530	T	0.3	2.5824	5.5476	0.17073	0.1651:0.0:0.8349:0.0	.	739;739	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	L	739;739;247;739	ENSP00000374292:S739L;ENSP00000376158:S739L;ENSP00000376154:S739L	ENSP00000315967:S247L	S	-	2	0	CCDC57	77708938	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.711000	0.05019	0.423000	0.26033	0.462000	0.41574	TCG	-	CCDC57	-	NULL		0.667	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	0	0		75	75		0.00		G	NM_198082		80115649	-1	47		88		tier1	no_errors	ENST00000389641	ensembl	human	known	74_37	missense	34.81		SNP	0.000	A	47	88
CHD4	1108	genome.wustl.edu	37	12	6692434	6692434	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6692434G>A	ENST00000357008.2	-	26	4153	c.3990C>T	c.(3988-3990)gcC>gcT	p.A1330A	CHD4_ENST00000544040.1_Silent_p.A1323A|CHD4_ENST00000544484.1_Silent_p.A1327A|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Silent_p.A1330A|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1330					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCAGATTTCGGGCTAGATCTT	0.522													ENSG00000111642																									Colon(32;586 792 4568 16848 45314)												0													213.0	204.0	207.0					12																	6692434		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3990C>T	12.37:g.6692434G>A			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1330	ENST00000357008.2	37	c.3990	CCDS8552.1	12																																																																																			-	CHD4	-	pfam_DUF1087		0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		0	0		49	49		0.00		G	NM_001273		6692434	-1	26		23		tier1	no_errors	ENST00000309577	ensembl	human	known	74_37	silent	53.06		SNP	1.000	A	26	23
TXNRD2	10587	genome.wustl.edu	37	22	19907072	19907072	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:19907072G>A	ENST00000400521.1	-	3	229	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	TXNRD2_ENST00000400518.1_Missense_Mutation_p.P45S|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000334363.9_Missense_Mutation_p.P75S|TXNRD2_ENST00000535882.1_Missense_Mutation_p.P74S|TXNRD2_ENST00000542719.1_Missense_Mutation_p.P45S|TXNRD2_ENST00000400519.1_Missense_Mutation_p.P74S	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	75					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CTACCTTGGGGAGAAGGTTCC	0.627													ENSG00000184470																																					0													25.0	29.0	28.0					22																	19907072		2058	4180	6238	SO:0001583	missense	0			-	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.223C>T	22.37:g.19907072G>A	ENSP00000383365:p.Pro75Ser		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/D-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.P74S	ENST00000400521.1	37	c.220	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214574	0.58452	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.68479	-0.33;-0.25;-0.12;-0.24;-0.24;-0.33;1.13	3.96	3.96	0.45880	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.303220	0.32244	N	0.006377	T	0.67468	0.2896	L	0.58583	1.82	0.48135	D	0.999599	P;P;P;P	0.41748	0.655;0.761;0.527;0.655	B;B;B;B	0.43680	0.427;0.427;0.37;0.427	T	0.73279	-0.4033	10	0.59425	D	0.04	-0.5704	15.9753	0.80060	0.0:0.0:1.0:0.0	.	75;75;43;74	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	S	45;75;75;52;74;74;45;75	ENSP00000383362:P45S;ENSP00000383365:P75S;ENSP00000383369:P52S;ENSP00000383363:P74S;ENSP00000439314:P74S;ENSP00000439570:P45S;ENSP00000334451:P75S	ENSP00000334451:P75S	P	-	1	0	TXNRD2	18287072	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.071000	0.57556	2.492000	0.84095	0.557000	0.71058	CCC	-	TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	0	0		80	80		0.00		G	NM_006440		19907072	-1	41		80		tier1	no_errors	ENST00000535882	ensembl	human	known	74_37	missense	33.88		SNP	0.998	A	41	80
HIST1H3A	8350	genome.wustl.edu	37	6	26020939	26020939	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:26020939G>A	ENST00000357647.3	+	1	222	c.222G>A	c.(220-222)gaG>gaA	p.E74E	HIST1H4A_ENST00000359907.3_5'Flank|HIST1H1A_ENST00000244573.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	74					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGTGCGCGAGATTGCGCAGG	0.577													ENSG00000198366																																					0													45.0	48.0	47.0					6																	26020939		2203	4300	6503	SO:0001819	synonymous_variant	0			-	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.222G>A	6.37:g.26020939G>A			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E74	ENST00000357647.3	37	c.222	CCDS4570.1	6																																																																																			-	HIST1H3A	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.577	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3A	HGNC	protein_coding	OTTHUMT00000040080.1	0	0		61	61		0.00		G	NM_003529		26020939	+1	12		48		tier1	no_errors	ENST00000357647	ensembl	human	known	74_37	silent	19.67		SNP	1.000	A	12	48
ATG13	9776	genome.wustl.edu	37	11	46689389	46689389	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:46689389C>T	ENST00000434074.1	+	13	1793	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	ATG13_ENST00000451945.1_Silent_p.T331T|ATG13_ENST00000528494.1_Silent_p.T401T|ATG13_ENST00000526508.1_Silent_p.T368T|ATG13_ENST00000359513.4_Silent_p.T368T|ATG13_ENST00000524625.1_Silent_p.T331T|ATG13_ENST00000529655.1_Silent_p.T331T|ATG13_ENST00000530500.1_Silent_p.T252T|ATG13_ENST00000312040.4_Silent_p.T368T	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	368					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TCTTGGAGACCATCTTTGTCC	0.483													ENSG00000175224																																					0													97.0	83.0	88.0					11																	46689389		2201	4299	6500	SO:0001819	synonymous_variant	0			-	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1104C>T	11.37:g.46689389C>T			B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	pfam_Autophagy-rel_p13	p.T368	ENST00000434074.1	37	c.1104	CCDS44582.1	11																																																																																			-	ATG13	-	NULL		0.483	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2	0	0		80	80		0.00		C	NM_014741		46689389	+1	41		62		tier1	no_errors	ENST00000312040	ensembl	human	known	74_37	silent	39.81		SNP	0.992	T	41	62
SEC63	11231	genome.wustl.edu	37	6	108222575	108222575	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:108222575C>T	ENST00000369002.4	-	13	1535	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	452	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CCCACTTACCCTGTGATTTTA	0.383													ENSG00000025796																																					0													96.0	91.0	93.0					6																	108222575		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1357+1G>A	6.37:g.108222575C>T			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Silent	SNP	pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.Q452	ENST00000369002.4	37	c.1356	CCDS5061.1	6																																																																																			-	SEC63	-	pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom		0.383	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	0	0		65	65		0.00		C	NM_007214	Silent	108222575	-1	10		49		tier1	no_errors	ENST00000369002	ensembl	human	known	74_37	silent	16.95		SNP	1.000	T	10	49
MYBPC3	4607	genome.wustl.edu	37	11	47360232	47360232	+	Splice_Site	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:47360232T>C	ENST00000545968.1	-	23	2203		c.e23-2		MYBPC3_ENST00000399249.2_Splice_Site|MYBPC3_ENST00000256993.4_Splice_Site	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						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)		ACACAGCAGCTGGGGGGGTGC	0.652													ENSG00000134571																																					0			GRCh37	CD033997	MYBPC3	D							24.0	26.0	25.0					11																	47360232		2026	4167	6193	SO:0001630	splice_region_variant	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.2149-2A>G	11.37:g.47360232T>C			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Splice_Site	SNP	-	e22-2	ENST00000545968.1	37	c.2149-2	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723873	0.68959	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4578	0.75330	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYBPC3	47316808	1.000000	0.71417	0.967000	0.41034	0.745000	0.42441	7.200000	0.77838	2.053000	0.61076	0.460000	0.39030	.	-	MYBPC3	-	-		0.652	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	0	0		28	28		0.00		T		Intron	47360232	-1	13		21		tier1	no_errors	ENST00000399249	ensembl	human	known	74_37	splice_site	38.24		SNP	0.994	C	13	21
CLCN3	1182	genome.wustl.edu	37	4	170628344	170628344	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:170628344T>C	ENST00000513761.1	+	11	2635	c.2076T>C	c.(2074-2076)ttT>ttC	p.F692F	CLCN3_ENST00000360642.3_Silent_p.F665F|CLCN3_ENST00000504131.2_Silent_p.F675F|CLCN3_ENST00000347613.4_Silent_p.F692F	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	692	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ACAATGGATTTCCTGTCATAA	0.383													ENSG00000109572																																					0													111.0	118.0	115.0					4																	170628344		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2076T>C	4.37:g.170628344T>C			B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3	p.F692	ENST00000513761.1	37	c.2076	CCDS34101.1	4																																																																																			-	CLCN3	-	pfam_CBS_dom,smart_CBS_dom		0.383	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLCN3	HGNC	protein_coding	OTTHUMT00000363210.2	0	0		71	71		0.00		T			170628344	+1	42		72		tier1	no_errors	ENST00000347613	ensembl	human	known	74_37	silent	36.84		SNP	1.000	C	42	72
IL16	3603	genome.wustl.edu	37	15	81592359	81592359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:81592359C>T	ENST00000302987.4	+	13	2692	c.2692C>T	c.(2692-2694)Cag>Tag	p.Q898*	IL16_ENST00000394652.2_Nonsense_Mutation_p.Q197*|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394660.2_Nonsense_Mutation_p.Q898*			Q14005	IL16_HUMAN	interleukin 16	898					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCTTGTGCCCCAGCAGCCTGA	0.647													ENSG00000172349																																					0													47.0	51.0	50.0					15																	81592359		2200	4298	6498	SO:0001587	stop_gained	0			-	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2692C>T	15.37:g.81592359C>T	ENSP00000302935:p.Gln898*		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16	p.Q898*	ENST00000302987.4	37	c.2692	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488546	0.44249	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	.	.	.	4.39	2.26	0.28386	.	0.620414	0.13224	N	0.404145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.9593	0.58449	0.5013:0.4987:0.0:0.0	.	.	.	.	X	898;730;898;435;288;197;197	.	ENSP00000302935:Q898X	Q	+	1	0	IL16	79379414	0.010000	0.17322	0.000000	0.03702	0.015000	0.08874	0.171000	0.16685	0.147000	0.19030	0.655000	0.94253	CAG	-	IL16	-	NULL		0.647	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	0	0		33	33		0.00		C	NM_172217		81592359	+1	20		12		tier1	no_errors	ENST00000302987	ensembl	human	known	74_37	nonsense	62.50		SNP	0.001	T	20	12
COL4A1	1282	genome.wustl.edu	37	13	110847415	110847415	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:110847415C>T	ENST00000375820.4	-	22	1457	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G446R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	446	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGAATTCCAGGAGGACCC	0.418													ENSG00000187498																																					0													50.0	54.0	53.0					13																	110847415		2203	4300	6503	SO:0001583	missense	0			-	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1336G>A	13.37:g.110847415C>T	ENSP00000364979:p.Gly446Arg		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G446R	ENST00000375820.4	37	c.1336	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723187	0.68959	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99637	-5.77;-6.29	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96694	0.9513	10	0.87932	D	0	.	16.9032	0.86118	0.0:1.0:0.0:0.0	.	446	P02462	CO4A1_HUMAN	R	440;446;446;446	ENSP00000364979:G446R;ENSP00000443348:G446R	ENSP00000364973:G440R	G	-	1	0	COL4A1	109645416	0.992000	0.36948	0.274000	0.24659	0.974000	0.67602	5.248000	0.65421	2.583000	0.87209	0.561000	0.74099	GGA	-	COL4A1	-	pfam_Collagen		0.418	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	0	0		33	33		0.00		C			110847415	-1	12		27		tier1	no_errors	ENST00000375820	ensembl	human	known	74_37	missense	30.77		SNP	0.972	T	12	27
FSIP2	401024	genome.wustl.edu	37	2	186673773	186673773	+	Silent	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:186673773C>A	ENST00000424728.1	+	17	19740	c.19740C>A	c.(19738-19740)tcC>tcA	p.S6580S	FSIP2_ENST00000343098.5_Silent_p.S6669S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6580										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAAATTACTCCTTAGGATCAC	0.398													ENSG00000188738																																					0													73.0	66.0	68.0					2																	186673773		1856	4107	5963	SO:0001819	synonymous_variant	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19740C>A	2.37:g.186673773C>A			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.S6669	ENST00000424728.1	37	c.20007		2																																																																																			-	FSIP2	-	NULL		0.398	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0		51	51		0.00		C	NM_173651		186673773	+1	11		31		tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	26.19		SNP	0.000	A	11	31
NEU3	10825	genome.wustl.edu	37	11	74716821	74716821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:74716821C>T	ENST00000544263.1	+	4	741	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	NEU3_ENST00000531509.1_Nonsense_Mutation_p.Q224*|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000294064.4_Nonsense_Mutation_p.Q224*|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Q115*			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	191					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTTTTGCTTCCAGCTACCATG	0.512													ENSG00000162139																																					0													115.0	111.0	112.0					11																	74716821		2000	4178	6178	SO:0001587	stop_gained	0			-	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.571C>T	11.37:g.74716821C>T	ENSP00000445591:p.Gln191*		A8K327|Q9NQE1	Nonsense_Mutation	SNP	superfamily_Sialidases	p.Q224*	ENST00000544263.1	37	c.670		11	.	.	.	.	.	.	.	.	.	.	C	7.256	0.604191	0.14002	.	.	ENSG00000162139	ENST00000294064;ENST00000531509;ENST00000544263;ENST00000545272	.	.	.	5.04	-2.0	0.07433	.	0.918753	0.09237	N	0.829742	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-0.1298	1.1147	0.01711	0.2511:0.3797:0.124:0.2452	.	.	.	.	X	224;224;191;115	.	ENSP00000294064:Q224X	Q	+	1	0	NEU3	74394469	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.431000	0.06965	-0.195000	0.10382	-0.274000	0.10170	CAG	-	NEU3	-	superfamily_Sialidases		0.512	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	NEU3	HGNC	protein_coding		0	0		37	37		0.00		C	NM_006656		74716821	+1	19		41		tier1	no_errors	ENST00000294064	ensembl	human	known	74_37	nonsense	31.67		SNP	0.000	T	19	41
PLEC	5339	genome.wustl.edu	37	8	144996492	144996492	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144996492C>A	ENST00000322810.4	-	32	8077	c.7908G>T	c.(7906-7908)aaG>aaT	p.K2636N	PLEC_ENST00000357649.2_Missense_Mutation_p.K2503N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2467N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2499N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2499N|PLEC_ENST00000356346.3_Missense_Mutation_p.K2485N|PLEC_ENST00000527096.1_Missense_Mutation_p.K2522N|PLEC_ENST00000354958.2_Missense_Mutation_p.K2477N|PLEC_ENST00000436759.2_Missense_Mutation_p.K2526N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2636	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGGCTGTCCTTTTCAGAGA	0.612													ENSG00000178209																																					0													24.0	27.0	26.0					8																	144996492		2113	4224	6337	SO:0001583	missense	0			-	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7908G>T	8.37:g.144996492C>A	ENSP00000323856:p.Lys2636Asn		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.K2636N	ENST00000322810.4	37	c.7908	CCDS43772.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.415|2.415	-0.334356|-0.334356	0.05278|0.05278	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096|ENST00000527303	T;T;D;D;D;T;T;T;T|.	0.81659|.	-1.48;-1.49;-1.52;-1.52;-1.5;-1.48;-1.48;-1.48;-1.48|.	4.38|4.38	1.6|1.6	0.23607|0.23607	.|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.58163|0.58163	0.2103|0.2103	L|L	0.58101|0.58101	1.795|1.795	0.43230|0.43230	D|D	0.995126|0.995126	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.999|.	T|T	0.50600|0.50600	-0.8809|-0.8809	10|5	0.66056|.	D|.	0.02|.	.|.	7.9224|7.9224	0.29854|0.29854	0.0:0.5688:0.0:0.4312|0.0:0.5688:0.0:0.4312	.|.	2526;2485;2477;2636;2467;2499;2503;2499|.	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4|.	.;.;.;PLEC_HUMAN;.;.;.;.|.	N|M	2499;2503;2499;2467;2636;2477;2485;2526;2522|69	ENSP00000344848:K2499N;ENSP00000350277:K2503N;ENSP00000346602:K2499N;ENSP00000381756:K2467N;ENSP00000323856:K2636N;ENSP00000347044:K2477N;ENSP00000348702:K2485N;ENSP00000388180:K2526N;ENSP00000434583:K2522N|.	ENSP00000323856:K2636N|.	K|R	-|-	3|2	2|0	PLEC|PLEC	145068480|145068480	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.216000|0.216000	0.24613|0.24613	0.838000|0.838000	0.27572|0.27572	0.146000|0.146000	0.19002|0.19002	-0.414000|-0.414000	0.06135|0.06135	AAG|AGG	-	PLEC	-	NULL		0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	0	0		18	18		0.00		C	NM_000445		144996492	-1	10		17		tier1	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	37.04		SNP	0.998	A	10	17
ISCU	23479	genome.wustl.edu	37	12	108958135	108958135	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:108958135G>A	ENST00000311893.9	+	2	217	c.195G>A	c.(193-195)ggG>ggA	p.G65G	ISCU_ENST00000547005.1_Silent_p.G65G|SART3_ENST00000228284.3_5'Flank|ISCU_ENST00000539593.1_Silent_p.G65G|SART3_ENST00000546611.1_5'Flank|ISCU_ENST00000431221.2_Silent_p.G65G|ISCU_ENST00000338291.4_Silent_p.G40G|ISCU_ENST00000535729.1_Silent_p.G65G|ISCU_ENST00000392807.4_Silent_p.G40G	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	65					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GACTGGTGGGGGCTCCAGCAT	0.388													ENSG00000136003																																					0													79.0	83.0	82.0					12																	108958135		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"""NifU-like N-terminal domain containing"", ""IscU iron-sulfur cluster scaffold homolog (E. coli)"", ""iron-sulfur cluster scaffold homolog (E. coli)"""	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.195G>A	12.37:g.108958135G>A			Q6P713|Q99617|Q9H1K2	Silent	SNP	pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU	p.G65	ENST00000311893.9	37	c.195	CCDS44966.1	12																																																																																			-	ISCU	-	pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU		0.388	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISCU	HGNC	protein_coding	OTTHUMT00000399693.1	0	0		88	88		0.00		G	NM_014301		108958135	+1	42		44		tier1	no_errors	ENST00000311893	ensembl	human	known	74_37	silent	48.84		SNP	0.586	A	42	44
B4GALNT2	124872	genome.wustl.edu	37	17	47241525	47241525	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47241525G>A	ENST00000300404.2	+	8	1081	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.R255Q|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.R281Q	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	341					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ATCATGCTCCGGAGTATTCGA	0.488													ENSG00000167080																									GBM(124;244 1635 8663 18097 33175)												0													176.0	172.0	173.0					17																	47241525		2203	4300	6503	SO:0001583	missense	0			-	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1022G>A	17.37:g.47241525G>A	ENSP00000300404:p.Arg341Gln		B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.R341Q	ENST00000300404.2	37	c.1022	CCDS11544.1	17	.	.	.	.	.	.	.	.	.	.	G	9.316	1.056693	0.19907	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.61627	0.09;0.09;0.09	5.58	-11.0	0.00169	Glycosyl transferase, family 2 (1);	1.291370	0.05393	N	0.539325	T	0.29491	0.0735	N	0.05351	-0.065	0.09310	N	1	B;B	0.21309	0.038;0.054	B;B	0.16289	0.003;0.015	T	0.29366	-1.0014	10	0.11182	T	0.66	-1.7841	13.9469	0.64091	0.7548:0.0:0.1546:0.0906	.	281;341	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	Q	255;281;341	ENSP00000425510:R255Q;ENSP00000377022:R281Q;ENSP00000300404:R341Q	ENSP00000300404:R341Q	R	+	2	0	B4GALNT2	44596524	0.000000	0.05858	0.265000	0.24526	0.938000	0.57974	-1.674000	0.01949	-1.901000	0.01096	-1.100000	0.02121	CGG	-	B4GALNT2	-	pfam_Glyco_trans_2,pirsf_GM2_synthase		0.488	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	0	0		69	69		0.00		G	NM_153446		47241525	+1	42		77		tier1	no_errors	ENST00000300404	ensembl	human	known	74_37	missense	35.29		SNP	0.000	A	42	77
RARS	5917	genome.wustl.edu	37	5	167929064	167929064	+	Silent	SNP	C	C	T	rs377078082		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:167929064C>T	ENST00000231572.3	+	9	1065	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	RARS_ENST00000538719.1_Silent_p.F131F	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	337					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGGAATCCTTCTATCAAGATA	0.308													ENSG00000113643	C|||	1	0.000199681	0.0008	0.0	5008	,	,		10803	0.0		0.0	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	101.0	110.0	107.0		1011	2.4	1.0	5		107	0,8590		0,0,4295	no	coding-synonymous	RARS	NM_002887.3		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		337/661	167929064	1,12995	2203	4295	6498	SO:0001819	synonymous_variant	0			-	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1011C>T	5.37:g.167929064C>T			B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	pfam_Arg-tR-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tR-synth_N,superfamily_tRsynth_1a_anticodon-bd,superfamily_Arg-tR-synth_N,smart_DALR_anticod-bd,prints_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia	p.F337	ENST00000231572.3	37	c.1011	CCDS4367.1	5																																																																																			-	RARS	-	pfam_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia		0.308	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	0	0		74	74		0.00		C	NM_002887		167929064	+1	26		49		tier1	no_errors	ENST00000231572	ensembl	human	known	74_37	silent	34.67		SNP	1.000	T	26	49
TP73	7161	genome.wustl.edu	37	1	3598953	3598953	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:3598953C>T	ENST00000378295.4	+	2	179	c.24C>T	c.(22-24)tcC>tcT	p.S8S	TP73_ENST00000604074.1_Silent_p.S8S|TP73_ENST00000604479.1_Silent_p.S8S|TP73_ENST00000346387.4_Silent_p.S8S|TP73_ENST00000357733.3_Silent_p.S8S|TP73_ENST00000603362.1_Silent_p.S8S|TP73_ENST00000354437.4_Silent_p.S8S	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	8	Asp/Glu-rich (acidic).|Transactivation. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCGCCACCTCCCCTGATGGGG	0.672													ENSG00000078900																																					0													27.0	25.0	26.0					1																	3598953		2177	4282	6459	SO:0001819	synonymous_variant	0			-	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.24C>T	1.37:g.3598953C>T			B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_D-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.S8	ENST00000378295.4	37	c.24	CCDS49.1	1																																																																																			-	TP73	-	NULL		0.672	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	0	0		113	113		0.00		C	NM_005427		3598953	+1	26		85		tier1	no_errors	ENST00000378295	ensembl	human	known	74_37	silent	23.21		SNP	0.073	T	26	85
C5orf51	285636	genome.wustl.edu	37	5	41911190	41911190	+	Missense_Mutation	SNP	C	C	T	rs201204178		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:41911190C>T	ENST00000381647.2	+	4	414	c.395C>T	c.(394-396)tCt>tTt	p.S132F	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	132										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAATGTCTCTCTTGGAGACGA	0.388													ENSG00000205765																																					0								C	PHE/SER	0,4406		0,0,2203	116.0	114.0	115.0		395	4.8	1.0	5		115	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C5orf51	NM_175921.4	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	132/295	41911190	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.395C>T	5.37:g.41911190C>T	ENSP00000371061:p.Ser132Phe		A2RRM9	Missense_Mutation	SNP	NULL	p.S132F	ENST00000381647.2	37	c.395	CCDS34151.1	5	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107093	0.37145	0.0	1.16E-4	ENSG00000205765	ENST00000381647	T	0.31510	1.49	5.7	4.76	0.60689	.	0.055935	0.85682	D	0.000000	T	0.13970	0.0338	N	0.14661	0.345	0.40422	D	0.979852	P	0.43938	0.822	B	0.33960	0.173	T	0.07908	-1.0748	10	0.17369	T	0.5	-2.0322	10.8575	0.46808	0.3165:0.6835:0.0:0.0	.	132	A6NDU8	CE051_HUMAN	F	132	ENSP00000371061:S132F	ENSP00000371061:S132F	S	+	2	0	C5orf51	41946947	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.901000	0.63259	2.694000	0.91930	0.467000	0.42956	TCT	rs201204178	C5orf51	-	NULL		0.388	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf51	HGNC	protein_coding	OTTHUMT00000367144.1	0	0		80	80		0.00		C	NM_175921		41911190	+1	34		48		tier1	no_errors	ENST00000381647	ensembl	human	known	74_37	missense	41.46		SNP	1.000	T	34	48
OR1L4	254973	genome.wustl.edu	37	9	125487078	125487078	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:125487078G>A	ENST00000259466.1	+	1	810	c.810G>A	c.(808-810)atG>atA	p.M270I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACTCAGTGATGAAGGGCCGGG	0.483													ENSG00000136939																																					0													103.0	98.0	99.0					9																	125487078		2203	4300	6503	SO:0001583	missense	0			-		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.810G>A	9.37:g.125487078G>A	ENSP00000259466:p.Met270Ile		Q6IFN0|Q96R81	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M270I	ENST00000259466.1	37	c.810	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	.	2.042	-0.419896	0.04734	.	.	ENSG00000136939	ENST00000259466	T	0.00076	8.76	4.12	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.305688	0.23405	N	0.048531	T	0.00039	0.0001	N	0.01576	-0.805	0.09310	N	0.999992	B	0.06786	0.001	B	0.09377	0.004	T	0.10200	-1.0640	10	0.22109	T	0.4	-18.4927	2.7127	0.05179	0.1073:0.2584:0.4765:0.1578	.	270	Q8NGR5	OR1L4_HUMAN	I	270	ENSP00000259466:M270I	ENSP00000259466:M270I	M	+	3	0	OR1L4	124526899	0.000000	0.05858	0.999000	0.59377	0.076000	0.17211	-1.447000	0.02396	0.953000	0.37825	-1.347000	0.01240	ATG	-	OR1L4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	HGNC	protein_coding	OTTHUMT00000053951.1	0	0		93	93		0.00		G			125487078	+1	29		68		tier1	no_errors	ENST00000259466	ensembl	human	known	74_37	missense	29.90		SNP	0.975	A	29	68
USH1G	124590	genome.wustl.edu	37	17	72915947	72915947	+	Silent	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:72915947T>A	ENST00000319642.1	-	2	1166	c.984A>T	c.(982-984)ggA>ggT	p.G328G		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	328					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCGGCCCAGTCCGTGCAGCC	0.677													ENSG00000182040																																					0													52.0	63.0	60.0					17																	72915947		2203	4298	6501	SO:0001819	synonymous_variant	0			-	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.984A>T	17.37:g.72915947T>A			Q8N251	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G328	ENST00000319642.1	37	c.984	CCDS32725.1	17																																																																																			-	USH1G	-	NULL		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	0	0		72	72		0.00		T	NM_173477		72915947	-1	28		71		tier1	no_errors	ENST00000319642	ensembl	human	known	74_37	silent	28.28		SNP	0.989	A	28	71
SBNO1	55206	genome.wustl.edu	37	12	123813425	123813425	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:123813425A>C	ENST00000602398.1	-	10	1279	c.1152T>G	c.(1150-1152)atT>atG	p.I384M	SBNO1_ENST00000420886.2_Missense_Mutation_p.I384M|SBNO1_ENST00000602750.1_Missense_Mutation_p.I383M|SBNO1_ENST00000267176.4_Missense_Mutation_p.I383M			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	384					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTTTGGAAGAAATTTTTCCGT	0.333													ENSG00000139697																																					0													64.0	65.0	64.0					12																	123813425		2203	4300	6503	SO:0001583	missense	0			-	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1152T>G	12.37:g.123813425A>C	ENSP00000473665:p.Ile384Met		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.I384M	ENST00000602398.1	37	c.1152	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962705	0.53507	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.93604	-3.25;-3.25	5.53	4.35	0.52113	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	M	0.88906	2.99	0.58432	D	0.999994	D;P;D	0.69078	0.997;0.723;0.997	D;P;D	0.80764	0.986;0.64;0.994	D	0.95727	0.8771	10	0.54805	T	0.06	-25.8932	9.7797	0.40640	0.7247:0.0:0.0:0.2753	.	384;383;382	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	M	384;383;383	ENSP00000387361:I384M;ENSP00000267176:I383M	ENSP00000267176:I383M	I	-	3	3	SBNO1	122379378	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.037000	0.41174	0.878000	0.35920	0.260000	0.18958	ATT	-	SBNO1	-	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase		0.333	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	0	0		77	77		0.00		A	NM_018183		123813425	-1	21		54		tier1	no_errors	ENST00000420886	ensembl	human	known	74_37	missense	28.00		SNP	1.000	C	21	54
COBL	23242	genome.wustl.edu	37	7	51150796	51150796	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:51150796C>T	ENST00000265136.7	-	7	1262				COBL_ENST00000395542.2_Missense_Mutation_p.G434E|COBL_ENST00000395540.2_Intron|COBL_ENST00000441453.1_Intron	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein						actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGCGCCTTCCCCGGGAAAGCT	0.607													ENSG00000106078																									NSCLC(189;2119 2138 12223 30818 34679)												0																																										SO:0001627	intron_variant	0			-	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1096+2066G>A	7.37:g.51150796C>T			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.G434E	ENST00000265136.7	37	c.1301	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870710	0.51695	.	.	ENSG00000106078	ENST00000431948;ENST00000395542	T;T	0.10382	2.88;2.88	5.56	3.77	0.43336	.	.	.	.	.	T	0.04815	0.0130	.	.	.	0.25255	N	0.989648	B	0.20671	0.047	B	0.19946	0.027	T	0.42378	-0.9455	8	0.06494	T	0.89	.	8.5451	0.33417	0.0:0.7679:0.0:0.2321	.	409	O75128-7	.	E	237;434	ENSP00000413498:G237E;ENSP00000378912:G434E	ENSP00000378912:G434E	G	-	2	0	COBL	51118290	0.682000	0.27624	0.930000	0.37139	0.564000	0.35744	0.635000	0.24629	0.713000	0.32060	0.585000	0.79938	GGG	-	COBL	-	NULL		0.607	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	0	0		86	86		0.00		C	NM_015198		51150796	-1	36		129		tier1	no_errors	ENST00000395542	ensembl	human	known	74_37	missense	21.82		SNP	0.971	T	36	129
HHIP	64399	genome.wustl.edu	37	4	145633172	145633172	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:145633172A>C	ENST00000296575.3	+	8	2027	c.1372A>C	c.(1372-1374)Aaa>Caa	p.K458Q		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	458					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCCAATGGAAAAAACAGATC	0.348													ENSG00000164161																																					0													142.0	139.0	140.0					4																	145633172		2203	4300	6503	SO:0001583	missense	0			-	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1372A>C	4.37:g.145633172A>C	ENSP00000296575:p.Lys458Gln		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.K458Q	ENST00000296575.3	37	c.1372	CCDS3762.1	4	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094167	0.36952	.	.	ENSG00000164161	ENST00000296575	T	0.05319	3.46	5.74	5.74	0.90152	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.03915	0.0110	N	0.10782	0.045	0.80722	D	1	P	0.47106	0.89	B	0.35182	0.197	T	0.56335	-0.7996	10	0.36615	T	0.2	-23.9715	16.0466	0.80724	1.0:0.0:0.0:0.0	.	458	Q96QV1	HHIP_HUMAN	Q	458	ENSP00000296575:K458Q	ENSP00000296575:K458Q	K	+	1	0	HHIP	145852622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.775000	0.75018	2.182000	0.69389	0.533000	0.62120	AAA	-	HHIP	-	NULL		0.348	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	HGNC	protein_coding	OTTHUMT00000364887.2	0	0		75	75		0.00		A			145633172	+1	27		46		tier1	no_errors	ENST00000296575	ensembl	human	known	74_37	missense	36.99		SNP	1.000	C	27	46
PRMT8	56341	genome.wustl.edu	37	12	3702286	3702286	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:3702286G>A	ENST00000382622.3	+	10	1513	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.D366N	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	375	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTTCACAGTAGACTTGGATTT	0.522													ENSG00000111218																																					0													104.0	86.0	92.0					12																	3702286		2203	4300	6503	SO:0001583	missense	0			-	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1123G>A	12.37:g.3702286G>A	ENSP00000372067:p.Asp375Asn		B2RDP0|Q8TBJ8	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tR_Trfase_Trm5/Tyw2	p.D375N	ENST00000382622.3	37	c.1123	CCDS8521.2	12	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189231	0.57909	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.23552	1.9;1.9	5.22	5.22	0.72569	.	0.042884	0.85682	D	0.000000	T	0.26629	0.0651	L	0.46885	1.475	0.58432	D	0.999999	B;B	0.11235	0.004;0.0	B;B	0.15052	0.012;0.002	T	0.02736	-1.1117	10	0.46703	T	0.11	.	16.2763	0.82644	0.0:0.0:1.0:0.0	.	366;375	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	N	366;375	ENSP00000414507:D366N;ENSP00000372067:D375N	ENSP00000372067:D375N	D	+	1	0	PRMT8	3572547	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.829000	0.86735	2.445000	0.82738	0.313000	0.20887	GAC	-	PRMT8	-	NULL		0.522	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	0	0		54	54		0.00		G	NM_019854		3702286	+1	17		41		tier1	no_errors	ENST00000382622	ensembl	human	known	74_37	missense	29.31		SNP	1.000	A	17	41
BEST3	144453	genome.wustl.edu	37	12	70048991	70048991	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:70048991G>A	ENST00000330891.5	-	10	1929	c.1703C>T	c.(1702-1704)tCa>tTa	p.S568L	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.S355L|BEST3_ENST00000553096.1_Missense_Mutation_p.S462L	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	568					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCGCTGGCTGAAACTGTCTG	0.552													ENSG00000127325																																					0													42.0	43.0	42.0					12																	70048991		1853	4096	5949	SO:0001583	missense	0			-	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1703C>T	12.37:g.70048991G>A	ENSP00000332413:p.Ser568Leu		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.S568L	ENST00000330891.5	37	c.1703	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654476	0.29425	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97850	-4.25;-4.57;-4.54	5.11	4.23	0.50019	.	1.664750	0.03225	N	0.178091	D	0.94729	0.8299	L	0.32530	0.975	0.09310	N	0.999992	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	D	0.85728	0.1329	10	0.12103	T	0.63	1.6504	7.3081	0.26459	0.0919:0.1703:0.7378:0.0	.	568;355	Q8N1M1;B5MDI8	BEST3_HUMAN;.	L	355;568;462	ENSP00000433213:S355L;ENSP00000332413:S568L;ENSP00000449548:S462L	ENSP00000332413:S568L	S	-	2	0	BEST3	68335258	0.002000	0.14202	0.009000	0.14445	0.015000	0.08874	1.200000	0.32247	1.155000	0.42497	0.563000	0.77884	TCA	-	BEST3	-	NULL		0.552	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	0	0		39	39		0.00		G	NM_152439		70048991	-1	21		34		tier1	no_errors	ENST00000330891	ensembl	human	known	74_37	missense	38.18		SNP	0.004	A	21	34
CD40LG	959	genome.wustl.edu	37	X	135730454	135730454	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:135730454G>A	ENST00000370629.2	+	1	103	c.47G>A	c.(46-48)gGa>gAa	p.G16E	CD40LG_ENST00000370628.2_Missense_Mutation_p.G16E	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	16					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GCGGCCACTGGACTGCCCATC	0.428									Immune Deficiency with Hyper-IgM				ENSG00000102245																																					0													157.0	147.0	150.0					X																	135730454		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	-	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.47G>A	X.37:g.135730454G>A	ENSP00000359663:p.Gly16Glu			Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5	p.G16E	ENST00000370629.2	37	c.47	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	g	11.09	1.537245	0.27475	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.78595	-1.19;-1.19	5.8	3.96	0.45880	.	0.217998	0.31519	N	0.007510	T	0.78717	0.4327	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.953	T	0.68315	-0.5441	10	0.62326	D	0.03	-9.544	8.5516	0.33455	0.0:0.1622:0.6662:0.1716	.	16;16	Q3L8U2;P29965	.;CD40L_HUMAN	E	16	ENSP00000359663:G16E;ENSP00000359662:G16E	ENSP00000359662:G16E	G	+	2	0	CD40LG	135558120	0.505000	0.26131	0.590000	0.28732	0.168000	0.22595	1.522000	0.35921	1.184000	0.42957	0.597000	0.82753	GGA	-	CD40LG	-	pirsf_TNF_ligand_5		0.428	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	0	0		36	36		0.00		G	NM_000074		135730454	+1	42		20		tier1	no_errors	ENST00000370629	ensembl	human	known	74_37	missense	67.74		SNP	0.023	A	42	20
TMEM210	100505993	genome.wustl.edu	37	9	140065559	140065559	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:140065559C>T	ENST00000413619.2	-	4	693	c.312G>A	c.(310-312)gtG>gtA	p.V104V	LRRC26_ENST00000371542.3_5'Flank|RP11-350O14.18_ENST00000568665.1_RNA|TMEM210_ENST00000430332.1_5'UTR|TMEM210_ENST00000535352.2_Silent_p.V8V|MIR3621_ENST00000580529.1_RNA	NM_001282477.1	NP_001269406.1	A6NLX4	TM210_HUMAN	transmembrane protein 210	104						integral component of membrane (GO:0016021)											GCTGGGACTCCACGTAAACCG	0.582													ENSG00000185863																																					0																																										SO:0001819	synonymous_variant	0			-		CCDS65197.1	9q34.3	2014-01-28			ENSG00000185863	ENSG00000185863			34059	protein-coding gene	gene with protein product							Standard	NM_001282477		Approved			A6NLX4	OTTHUMG00000020981	ENST00000413619.2:c.312G>A	9.37:g.140065559C>T				Silent	SNP	NULL	p.V104	ENST00000413619.2	37	c.312		9																																																																																			-	TMEM210	-	NULL		0.582	TMEM210-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TMEM210	HGNC	protein_coding	OTTHUMT00000055308.2	0	0		84	84		0.00		C	XM_001715022		140065559	-1	31		88		tier1	no_errors	ENST00000413619	ensembl	human	known	74_37	silent	25.83		SNP	0.979	T	31	88
VPS13B	157680	genome.wustl.edu	37	8	100286549	100286549	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:100286549C>T	ENST00000358544.2	+	18	2750	c.2639C>T	c.(2638-2640)gCc>gTc	p.A880V	VPS13B_ENST00000395996.1_Missense_Mutation_p.A880V|VPS13B_ENST00000357162.2_Missense_Mutation_p.A880V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	880					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAATTTGTGCCAAAGCCCCA	0.438													ENSG00000132549																									Colon(161;2205 2542 7338 31318)												0													87.0	92.0	90.0					8																	100286549		2203	4300	6503	SO:0001583	missense	0			-	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2639C>T	8.37:g.100286549C>T	ENSP00000351346:p.Ala880Val		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.A880V	ENST00000358544.2	37	c.2639	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641707	0.67244	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.69561	-0.41;-0.41;-0.12	5.65	5.65	0.86999	.	0.075027	0.56097	N	0.000035	T	0.70272	0.3205	N	0.19112	0.55	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.997	T	0.62426	-0.6857	10	0.10902	T	0.67	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	880;880;880;880	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	V	880	ENSP00000349685:A880V;ENSP00000351346:A880V;ENSP00000379318:A880V	ENSP00000349685:A880V	A	+	2	0	VPS13B	100355725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.634000	0.67833	2.826000	0.97356	0.563000	0.77884	GCC	-	VPS13B	-	NULL		0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	0	0		131	131		0.00		C	NM_184042		100286549	+1	55		90		tier1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	37.93		SNP	1.000	T	55	90
TMEM184B	25829	genome.wustl.edu	37	22	38617206	38617206	+	3'UTR	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:38617206G>C	ENST00000361906.3	-	0	1702				TMEM184B_ENST00000361684.4_3'UTR|TMEM184B_ENST00000504337.1_5'UTR	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AGCACAGGACGGGCAGCAGGG	0.662													ENSG00000198792																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.*270C>G	22.37:g.38617206G>C			A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	R	SNP	-	NULL	ENST00000361906.3	37	NULL	CCDS13969.2	22																																																																																			-	TMEM184B	-	-		0.662	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	HGNC	protein_coding	OTTHUMT00000075445.4	0	0		45	45		0.00		G	NM_012264		38617206	-1	24		45		tier1	no_errors	ENST00000504337	ensembl	human	putative	74_37	rna	34.29		SNP	0.000	C	24	45
OR2M5	127059	genome.wustl.edu	37	1	248309349	248309349	+	Silent	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248309349A>C	ENST00000366476.1	+	1	900	c.900A>C	c.(898-900)gcA>gcC	p.A300A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TGACCAGAGCACTCAGGAAAG	0.468													ENSG00000162727																																					0													67.0	62.0	64.0					1																	248309349		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.900A>C	1.37:g.248309349A>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A300	ENST00000366476.1	37	c.900	CCDS31105.1	1																																																																																			-	OR2M5	-	NULL		0.468	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	0	0		64	64		0.00		A	NM_001004690		248309349	+1	40		49		tier1	no_errors	ENST00000366476	ensembl	human	known	74_37	silent	44.94		SNP	0.000	C	40	49
ADCK5	203054	genome.wustl.edu	37	8	145616617	145616617	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145616617C>T	ENST00000308860.6	+	7	785	c.741C>T	c.(739-741)ctC>ctT	p.L247L	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	247	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCTGGAGCTCCTGCTGCGGC	0.637													ENSG00000173137																																					0													63.0	62.0	62.0					8																	145616617		2202	4300	6502	SO:0001819	synonymous_variant	0			-	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.741C>T	8.37:g.145616617C>T			B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.L247	ENST00000308860.6	37	c.741	CCDS34965.1	8																																																																																			-	ADCK5	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	0	0		82	82		0.00		C	NM_174922		145616617	+1	46		111		tier1	no_errors	ENST00000308860	ensembl	human	known	74_37	silent	29.11		SNP	0.990	T	46	111
DCTN1	1639	genome.wustl.edu	37	2	74596233	74596233	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:74596233G>A	ENST00000361874.3	-	15	2010	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	DCTN1_ENST00000409240.1_Missense_Mutation_p.H528Y|DCTN1_ENST00000407639.2_Missense_Mutation_p.H431Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.H548Y|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.H558Y|DCTN1_ENST00000409438.1_Missense_Mutation_p.H431Y|DCTN1_ENST00000409567.3_Missense_Mutation_p.H545Y	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	565					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACCTTGGCATGGGCCTTAGTC	0.547													ENSG00000204843																																					0													102.0	96.0	98.0					2																	74596233		2203	4300	6503	SO:0001583	missense	0			-		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1693C>T	2.37:g.74596233G>A	ENSP00000354791:p.His565Tyr		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.H565Y	ENST00000361874.3	37	c.1693	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	8.424	0.847115	0.17034	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.65	5.65	0.86999	.	0.000000	0.44688	D	0.000426	T	0.70202	0.3197	N	0.16567	0.415	0.50039	D	0.999843	B;B;B;B;B;B	0.11235	0.002;0.0;0.001;0.001;0.004;0.001	B;B;B;B;B;B	0.13407	0.007;0.004;0.003;0.006;0.009;0.001	T	0.64922	-0.6293	10	0.02654	T	1	-7.6979	18.6545	0.91445	0.0:0.0:1.0:0.0	.	545;528;565;558;431;431	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	Y	565;558;548;431;431;528;548;545	ENSP00000354791:H565Y;ENSP00000377571:H558Y;ENSP00000384844:H431Y;ENSP00000387270:H431Y;ENSP00000386406:H528Y;ENSP00000387327:H548Y;ENSP00000386843:H545Y	ENSP00000354791:H565Y	H	-	1	0	DCTN1	74449741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.748000	0.68697	2.941000	0.99782	0.655000	0.94253	CAT	-	DCTN1	-	pfam_Dynactin,superfamily_P-loop_NTPase		0.547	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	0	0		52	52		0.00		G	NM_004082		74596233	-1	26		49		tier1	no_errors	ENST00000361874	ensembl	human	known	74_37	missense	34.67		SNP	1.000	A	26	49
YY2	404281	genome.wustl.edu	37	X	21875572	21875572	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:21875572C>T	ENST00000429584.2	+	1	1468	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	324	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L324I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ACGCTTTTCCCTTGATTTCAA	0.532													ENSG00000230797																																					1	Substitution - Missense(1)	lung(1)											180.0	179.0	180.0					X																	21875572		2203	4300	6503	SO:0001583	missense	0			-	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.970C>T	X.37:g.21875572C>T	ENSP00000389381:p.Leu324Phe		B2RP10|Q6Q1S4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.L324F	ENST00000429584.2	37	c.970	CCDS14202.1	X	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822766	0.71028	.	.	ENSG00000230797	ENST00000429584	T	0.42131	0.98	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000003	T	0.40473	0.1118	N	0.11064	0.09	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.34576	-0.9823	10	0.44086	T	0.13	.	7.7732	0.29021	0.0:0.886:0.0:0.1139	.	324	O15391	TYY2_HUMAN	F	324	ENSP00000389381:L324F	ENSP00000389381:L324F	L	+	1	0	YY2	21785493	1.000000	0.71417	0.936000	0.37596	0.711000	0.40976	3.037000	0.49775	2.276000	0.75962	0.544000	0.68410	CTT	-	YY2	-	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2		0.532	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY2	HGNC	protein_coding	OTTHUMT00000056025.1	0	0		19	19		0.00		C	NM_206923		21875572	+1	20		13		tier1	no_errors	ENST00000429584	ensembl	human	known	74_37	missense	60.61		SNP	0.999	T	20	13
COL11A2	1302	genome.wustl.edu	37	6	33157204	33157204	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33157204G>A	ENST00000374708.4	-	2	383	c.125C>T	c.(124-126)tCc>tTc	p.S42F	COL11A2_ENST00000374714.1_Missense_Mutation_p.S42F|COL11A2_ENST00000374712.1_Missense_Mutation_p.S42F|COL11A2_ENST00000361917.1_Missense_Mutation_p.S42F|COL11A2_ENST00000357486.1_Missense_Mutation_p.S42F|COL11A2_ENST00000395197.1_Missense_Mutation_p.S42F|COL11A2_ENST00000341947.2_Missense_Mutation_p.S42F|COL11A2_ENST00000374713.1_Missense_Mutation_p.S42F|COL11A2_ENST00000395194.1_Missense_Mutation_p.S42F	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	42					cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCAGGGAGGGAGGGGAACCT	0.612													ENSG00000204248																									Melanoma(1;90 116 3946 5341 17093)												0													65.0	60.0	62.0					6																	33157204		1511	2709	4220	SO:0001583	missense	0			-	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.125C>T	6.37:g.33157204G>A	ENSP00000363840:p.Ser42Phe		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.S42F	ENST00000374708.4	37	c.125	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977293	0.53720	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32	4.25	4.25	0.50352	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.195548	0.36234	N	0.002709	T	0.02848	0.0085	M	0.76002	2.32	0.19300	N	0.999975	P;B;B;D	0.56521	0.666;0.189;0.189;0.976	B;B;B;P	0.47528	0.202;0.077;0.077;0.549	T	0.25676	-1.0125	10	0.72032	D	0.01	.	8.2076	0.31465	0.1091:0.0:0.8909:0.0	.	42;42;42;42	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	F	42	ENSP00000363840:S42F;ENSP00000339915:S42F;ENSP00000350079:S42F;ENSP00000363846:S42F;ENSP00000363845:S42F;ENSP00000378623:S42F;ENSP00000363844:S42F;ENSP00000355123:S42F;ENSP00000405520:S42F;ENSP00000378620:S42F	ENSP00000339915:S42F	S	-	2	0	COL11A2	33265182	0.001000	0.12720	0.998000	0.56505	0.769000	0.43574	0.667000	0.25112	2.355000	0.79922	0.501000	0.49751	TCC	-	COL11A2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	0	0		50	50		0.00		G			33157204	-1	12		36		tier1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	25.00		SNP	0.361	A	12	36
LRRIQ1	84125	genome.wustl.edu	37	12	85492693	85492693	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:85492693G>A	ENST00000393217.2	+	13	3191	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1044										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCACTTGGATGATAACAGCAT	0.294													ENSG00000133640																																					0													93.0	95.0	94.0					12																	85492693		2202	4292	6494	SO:0001583	missense	0			-	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3130G>A	12.37:g.85492693G>A	ENSP00000376910:p.Asp1044Asn		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.D1044N	ENST00000393217.2	37	c.3130	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619958	0.87460	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.22134	1.97	5.4	5.4	0.78164	.	0.167890	0.49305	D	0.000143	T	0.34571	0.0902	N	0.21545	0.675	0.37537	D	0.918154	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.28267	-1.0049	10	0.52906	T	0.07	.	17.9348	0.89009	0.0:0.0:1.0:0.0	.	1044;1019	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	1044;1019;1044	ENSP00000376910:D1044N	ENSP00000256007:D1044N	D	+	1	0	LRRIQ1	84016824	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.287000	0.65645	2.521000	0.84997	0.585000	0.79938	GAT	-	LRRIQ1	-	smart_Leu-rich_rpt_typical-subtyp		0.294	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	0	0		76	76		0.00		G	NM_032165		85492693	+1	26		43		tier1	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	37.68		SNP	1.000	A	26	43
ALS2	57679	genome.wustl.edu	37	2	202630515	202630515	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:202630515G>A	ENST00000264276.6	-	3	548				ALS2_ENST00000467448.1_Intron|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)						behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAGACTCATAGATTTTATAAT	0.333													ENSG00000003393																																					0																																										SO:0001627	intron_variant	0			-	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.175+1436C>T	2.37:g.202630515G>A			Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	R	SNP	-	NULL	ENST00000264276.6	37	NULL	CCDS42800.1	2																																																																																			-	ALS2	-	-		0.333	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	0	0		85	85		0.00		G	NM_020919		202630515	-1	18		94		tier1	no_errors	ENST00000496244	ensembl	human	known	74_37	rna	16.07		SNP	0.003	A	18	94
UGT2B17	7367	genome.wustl.edu	37	4	69431360	69431360	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:69431360G>A	ENST00000317746.2	-	2	845	c.803C>T	c.(802-804)cCt>cTt	p.P268L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	268					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	GAATGGGCGAGGAAATTCAAA	0.388													ENSG00000197888																									Melanoma(18;649 833 28984 37818 38500)												0													83.0	84.0	84.0					4																	69431360		2087	3911	5998	SO:0001583	missense	0			-	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.803C>T	4.37:g.69431360G>A	ENSP00000320401:p.Pro268Leu			Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.P268L	ENST00000317746.2	37	c.803	CCDS3523.1	4	.	.	.	.	.	.	.	.	.	.	g	18.19	3.569056	0.65765	.	.	ENSG00000197888	ENST00000317746	T	0.80994	-1.44	2.64	2.64	0.31445	.	0.000000	0.85682	U	0.000000	D	0.90068	0.6898	M	0.93328	3.405	0.47009	D	0.999289	.	.	.	.	.	.	D	0.91672	0.5351	8	0.87932	D	0	.	11.0756	0.48030	0.0:0.0:1.0:0.0	.	.	.	.	L	268	ENSP00000320401:P268L	ENSP00000320401:P268L	P	-	2	0	UGT2B17	69113955	1.000000	0.71417	0.482000	0.27366	0.905000	0.53344	8.559000	0.90708	1.507000	0.48752	0.400000	0.26472	CCT	-	UGT2B17	-	pfam_UDP_glucos_trans		0.388	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B17	HGNC	protein_coding	OTTHUMT00000251436.1	0	0		91	91		0.00		G	NM_001077		69431360	-1	46		89		tier1	no_errors	ENST00000317746	ensembl	human	known	74_37	missense	34.07		SNP	1.000	A	46	89
JADE2	23338	genome.wustl.edu	37	5	133914743	133914743	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:133914743G>A	ENST00000282605.4	+	12	2327	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	PHF15_ENST00000361895.2_Silent_p.K704K|PHF15_ENST00000395003.1_Silent_p.K703K|PHF15_ENST00000402835.1_3'UTR																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGCCCTAAGCCTTTGGGCC	0.667													ENSG00000043143																																					0													45.0	54.0	51.0					5																	133914743		2203	4300	6503	SO:0001819	synonymous_variant	0			-																												ENST00000282605.4:c.2241G>A	5.37:g.133914743G>A				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K703	ENST00000282605.4	37	c.2109		5																																																																																			-	PHF15	-	NULL		0.667	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000251170.1	0	0		44	44		0.00		G			133914743	+1	21		37		tier1	no_errors	ENST00000395003	ensembl	human	known	74_37	silent	36.21		SNP	0.995	A	21	37
RTBDN	83546	genome.wustl.edu	37	19	12936605	12936605	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12936605G>A	ENST00000458671.2	-	6	757	c.605C>T	c.(604-606)cCc>cTc	p.P202L	RTBDN_ENST00000322912.5_Missense_Mutation_p.P234L|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000592204.1_Missense_Mutation_p.P212L|RTBDN_ENST00000393233.2_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	202						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						ACGCCGGGAGGGAGCTTCCCG	0.711											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000132026																																					0													20.0	19.0	19.0					19																	12936605		2201	4294	6495	SO:0001583	missense	0			-	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.605C>T	19.37:g.12936605G>A	ENSP00000416375:p.Pro202Leu	683	F1T0I8|Q9BWT5	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.P234L	ENST00000458671.2	37	c.701	CCDS45994.1	19	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519113	0.27211	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.50548	0.74;0.8	3.32	-6.64	0.01801	.	2.321930	0.02307	N	0.071717	T	0.24890	0.0604	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10337	-1.0634	10	0.56958	D	0.05	.	1.2199	0.01921	0.3943:0.2696:0.2001:0.136	.	234;202	Q9BSG5-2;Q9BSG5	.;RTBDN_HUMAN	L	234;202	ENSP00000326253:P234L;ENSP00000416375:P202L	ENSP00000326253:P234L	P	-	2	0	RTBDN	12797605	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.040000	0.12104	-1.230000	0.02561	0.467000	0.42956	CCC	-	RTBDN	-	NULL		0.711	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RTBDN	HGNC	protein_coding	OTTHUMT00000451513.1	0	0		57	57		0.00		G	NM_031429		12936605	-1	23		71		tier1	no_errors	ENST00000322912	ensembl	human	known	74_37	missense	24.47		SNP	0.000	A	23	71
TES	26136	genome.wustl.edu	37	7	115874652	115874652	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:115874652G>A	ENST00000358204.4	+	2	307	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TES_ENST00000485009.1_3'UTR|TES_ENST00000537767.1_5'UTR|TES_ENST00000393481.2_Missense_Mutation_p.G22E	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	31	Cys-rich.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAATGTGAAGGATTCGAACTG	0.363													ENSG00000135269																																					0													148.0	162.0	157.0					7																	115874652		2203	4300	6503	SO:0001583	missense	0			-	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.92G>A	7.37:g.115874652G>A	ENSP00000350937:p.Gly31Glu		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G31E	ENST00000358204.4	37	c.92	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476285	0.84640	.	.	ENSG00000135269	ENST00000358204;ENST00000257721;ENST00000393481	T;T	0.69685	-0.42;-0.42	4.72	4.72	0.59763	.	0.091610	0.46145	D	0.000314	D	0.84982	0.5593	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88592	0.3144	10	0.87932	D	0	-12.0886	16.8348	0.85954	0.0:0.0:1.0:0.0	.	31;31	B7Z5L5;Q9UGI8	.;TES_HUMAN	E	31;31;22	ENSP00000350937:G31E;ENSP00000377121:G22E	ENSP00000257721:G31E	G	+	2	0	TES	115661888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.789000	0.85783	2.345000	0.79718	0.650000	0.86243	GGA	-	TES	-	NULL		0.363	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2	0	0		60	60		0.00		G	NM_015641		115874652	+1	21		93		tier1	no_errors	ENST00000358204	ensembl	human	known	74_37	missense	18.42		SNP	1.000	A	21	93
TTBK2	146057	genome.wustl.edu	37	15	43045337	43045337	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:43045337C>T	ENST00000267890.6	-	14	2215	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	703					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GAGTAAAGTTCCACAGTGGGC	0.493													ENSG00000128881																																					0													85.0	83.0	84.0					15																	43045337		1867	4106	5973	SO:0001583	missense	0			-	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2107G>A	15.37:g.43045337C>T	ENSP00000267890:p.Glu703Lys		O94932|Q6ZN52|Q8IVV1	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.E703K	ENST00000267890.6	37	c.2107	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465121	0.63513	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.46451	0.87	5.67	5.67	0.87782	.	0.650919	0.16354	N	0.218072	T	0.43433	0.1247	L	0.56769	1.78	0.80722	D	1	B;B	0.34329	0.449;0.115	B;B	0.26094	0.066;0.03	T	0.47289	-0.9129	10	0.87932	D	0	.	19.7863	0.96440	0.0:1.0:0.0:0.0	.	634;703	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	K	703;633;1108	ENSP00000267890:E703K	ENSP00000263802:E1108K	E	-	1	0	TTBK2	40832629	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.038000	0.64177	2.665000	0.90641	0.655000	0.94253	GAA	-	TTBK2	-	NULL		0.493	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	0	0		46	46		0.00		C	NM_173500		43045337	-1	34		29		tier1	no_errors	ENST00000267890	ensembl	human	known	74_37	missense	53.97		SNP	0.998	T	34	29
IL20RB	53833	genome.wustl.edu	37	3	136701039	136701039	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:136701039C>T	ENST00000329582.4	+	3	502	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_Missense_Mutation_p.P38S|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	85	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CATCTGGATCCCCAGCAGCTG	0.557													ENSG00000174564																																					0													78.0	73.0	75.0					3																	136701039		2203	4300	6503	SO:0001583	missense	0			-	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.253C>T	3.37:g.136701039C>T	ENSP00000328133:p.Pro85Ser		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P85S	ENST00000329582.4	37	c.253	CCDS3093.1	3	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469547	0.63625	.	.	ENSG00000174564	ENST00000329582;ENST00000309741	T;T	0.72505	-0.66;-0.66	4.91	4.91	0.64330	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.233211	0.30302	N	0.009935	T	0.72463	0.3463	L	0.35593	1.075	0.34907	D	0.747096	D	0.69078	0.997	D	0.66602	0.945	T	0.71407	-0.4602	10	0.12766	T	0.61	-1.1932	13.9609	0.64177	0.0:1.0:0.0:0.0	.	85	Q6UXL0	I20RB_HUMAN	S	85;38	ENSP00000328133:P85S;ENSP00000311979:P38S	ENSP00000311979:P38S	P	+	1	0	IL20RB	138183729	0.996000	0.38824	1.000000	0.80357	0.939000	0.58152	4.243000	0.58721	2.441000	0.82636	0.491000	0.48974	CCC	-	IL20RB	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.557	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RB	HGNC	protein_coding	OTTHUMT00000357277.2	0	0		61	61		0.00		C	NM_144717		136701039	+1	8		70		tier1	no_errors	ENST00000329582	ensembl	human	known	74_37	missense	10.26		SNP	1.000	T	8	70
COL11A2	1302	genome.wustl.edu	37	6	33136329	33136329	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33136329C>T	ENST00000374708.4	-	52	3927	c.3669G>A	c.(3667-3669)ggG>ggA	p.G1223G	COL11A2_ENST00000374714.1_Silent_p.G1283G|COL11A2_ENST00000374712.1_Silent_p.G1228G|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Silent_p.G1202G|COL11A2_ENST00000357486.1_Silent_p.G1288G|COL11A2_ENST00000395197.1_Silent_p.G1249G|COL11A2_ENST00000341947.2_Silent_p.G1309G|COL11A2_ENST00000374713.1_Silent_p.G1262G	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1309	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCCATTCTCCCCGGTGGGAC	0.632													ENSG00000204248																									Melanoma(1;90 116 3946 5341 17093)												0													47.0	44.0	45.0					6																	33136329		1511	2709	4220	SO:0001819	synonymous_variant	0			-	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3669G>A	6.37:g.33136329C>T			A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1309	ENST00000374708.4	37	c.3927	CCDS43452.1	6																																																																																			-	COL11A2	-	NULL		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	0	0		44	44		0.00		C			33136329	-1	14		25		tier1	no_errors	ENST00000341947	ensembl	human	known	74_37	silent	35.90		SNP	0.993	T	14	25
INHBC	3626	genome.wustl.edu	37	12	57843514	57843514	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57843514C>T	ENST00000309668.2	+	2	895	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	256					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TTGTGGACTTCCGTGAGATTG	0.567													ENSG00000175189																																					0													93.0	82.0	86.0					12																	57843514		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.768C>T	12.37:g.57843514C>T			A1L3Y2	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC	p.F256	ENST00000309668.2	37	c.768	CCDS8938.1	12																																																																																			-	INHBC	-	pfam_TGF-b_C,smart_TGF-b_C		0.567	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBC	HGNC	protein_coding	OTTHUMT00000406770.1	0	0		54	54		0.00		C	NM_005538		57843514	+1	34		46		tier1	no_errors	ENST00000309668	ensembl	human	known	74_37	silent	41.98		SNP	1.000	T	34	46
DOCK2	1794	genome.wustl.edu	37	5	169446040	169446040	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:169446040C>T	ENST00000256935.8	+	33	3389	c.3309C>T	c.(3307-3309)ctC>ctT	p.L1103L	DOCK2_ENST00000540750.1_Silent_p.L164L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L595L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1103	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCTGAGCTCCGGAAAGCCA	0.443													ENSG00000134516																																					0													199.0	196.0	197.0					5																	169446040		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3309C>T	5.37:g.169446040C>T			Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.L1103	ENST00000256935.8	37	c.3309	CCDS4371.1	5																																																																																			-	DOCK2	-	superfamily_ARM-type_fold		0.443	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	0	0		36	36		0.00		C	NM_004946		169446040	+1	20		26		tier1	no_errors	ENST00000256935	ensembl	human	known	74_37	silent	43.48		SNP	0.991	T	20	26
NKX2-2	4821	genome.wustl.edu	37	20	21492260	21492260	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:21492260C>T	ENST00000377142.4	-	0	1479				NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2						astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGGTTTGGTCCCCCCGGGGAG	0.522													ENSG00000258197																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.*301G>A	20.37:g.21492260C>T				R	SNP	-	NULL	ENST00000377142.4	37	NULL	CCDS13145.1	20																																																																																			-	NKX2-2-AS1	-	-		0.522	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2-AS1	HGNC	protein_coding	OTTHUMT00000078278.9	0	0		72	72		0.00		C			21492260	+1	32		81		tier1	no_errors	ENST00000549659	ensembl	human	known	74_37	rna	28.32		SNP	0.182	T	32	81
CELF3	11189	genome.wustl.edu	37	1	151679908	151679908	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:151679908C>T	ENST00000290583.4	-	7	1566				CELF3_ENST00000392706.3_Intron|CELF3_ENST00000290585.4_Intron|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCCGAGGCTTCCCTGAGCAAT	0.642													ENSG00000159409																																					0																																										SO:0001627	intron_variant	0			-	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.772+74G>A	1.37:g.151679908C>T			B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	R	SNP	-	NULL	ENST00000290583.4	37	NULL	CCDS1002.1	1																																																																																			-	CELF3	-	-		0.642	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	HGNC	protein_coding	OTTHUMT00000036663.2	0	0		18	18		0.00		C	NM_007185		151679908	-1	11		31		tier1	no_errors	ENST00000470688	ensembl	human	known	74_37	rna	26.19		SNP	0.046	T	11	31
WHSC1	7468	genome.wustl.edu	37	4	1956939	1956939	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:1956939C>T	ENST00000382895.3	+	15	2821	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V	WHSC1_ENST00000508803.1_Missense_Mutation_p.A797V|WHSC1_ENST00000382892.2_Missense_Mutation_p.A797V|WHSC1_ENST00000382891.5_Missense_Mutation_p.A797V|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.A145V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	797					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGCGGGGATGCTTGTCTGGCA	0.572			T	IGH@	MM								ENSG00000109685																												Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													136.0	111.0	119.0					4																	1956939		2203	4300	6503	SO:0001583	missense	0			-	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2390C>T	4.37:g.1956939C>T	ENSP00000372351:p.Ala797Val		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.A797V	ENST00000382895.3	37	c.2390	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	C	9.242	1.038638	0.19669	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	5.77	4.92	0.64577	.	0.236454	0.29522	N	0.011912	D	0.85961	0.5819	N	0.11255	0.115	0.22081	N	0.999374	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.70421	-0.4876	10	0.17369	T	0.5	.	11.0987	0.48161	0.0:0.7476:0.168:0.0844	.	145;797	A2A2T2;O96028	.;NSD2_HUMAN	V	797;797;797;797;145	ENSP00000423972:A797V;ENSP00000372347:A797V;ENSP00000372348:A797V;ENSP00000372351:A797V;ENSP00000372344:A145V	ENSP00000372344:A145V	A	+	2	0	WHSC1	1926737	0.001000	0.12720	0.931000	0.37212	0.690000	0.40134	0.778000	0.26732	2.732000	0.93576	0.655000	0.94253	GCT	-	WHSC1	-	NULL		0.572	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	0	0		35	35		0.00		C	NM_133330		1956939	+1	11		35		tier1	no_errors	ENST00000382891	ensembl	human	known	74_37	missense	23.91		SNP	0.092	T	11	35
MUC5B	727897	genome.wustl.edu	37	11	1256382	1256382	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1256382G>A	ENST00000529681.1	+	22	2756	c.2698G>A	c.(2698-2700)Gat>Aat	p.D900N	MUC5B_ENST00000447027.1_Missense_Mutation_p.D903N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	900	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		GGCCTACGGGGATGGCCACTT	0.647													ENSG00000117983																																					0													58.0	69.0	65.0					11																	1256382		2128	4222	6350	SO:0001583	missense	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.2698G>A	11.37:g.1256382G>A	ENSP00000436812:p.Asp900Asn		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	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.D903N	ENST00000529681.1	37	c.2707	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579184	0.46006	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.61040	0.14;0.14	4.37	4.37	0.52481	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	.	.	.	.	T	0.77246	0.4102	M	0.80847	2.515	0.53688	D	0.999971	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.77557	0.966;0.99;0.99	T	0.81837	-0.0749	9	0.87932	D	0	.	17.164	0.86810	0.0:0.0:1.0:0.0	.	900;1559;903	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	N	900;903;901;936	ENSP00000436812:D900N;ENSP00000415793:D903N	ENSP00000343037:D901N	D	+	1	0	MUC5B	1212958	0.996000	0.38824	0.580000	0.28601	0.307000	0.27823	4.795000	0.62489	2.270000	0.75569	0.555000	0.69702	GAT	-	MUC5B	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	0	0		35	35		0.00		G	XM_001126093		1256382	+1	15		45		tier1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	25.00		SNP	1.000	A	15	45
DENND2A	27147	genome.wustl.edu	37	7	140285449	140285449	+	Silent	SNP	C	C	T	rs368228532		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:140285449C>T	ENST00000275884.6	-	4	1602	c.1185G>A	c.(1183-1185)aaG>aaA	p.K395K	DENND2A_ENST00000537639.1_Silent_p.K395K|DENND2A_ENST00000492720.1_Silent_p.K395K|DENND2A_ENST00000496613.1_Silent_p.K395K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	395					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGACACACTTCTTTCCCAGGC	0.522													ENSG00000146966	C|||	1	0.000199681	0.0008	0.0	5008	,	,		21991	0.0		0.0	False		,,,				2504	0.0																0								C		1,3957		0,1,1978	178.0	178.0	178.0		1185	5.6	1.0	7		178	1,8337		0,1,4168	no	coding-synonymous	DENND2A	NM_015689.3		0,2,6146	TT,TC,CC		0.012,0.0253,0.0163		395/1010	140285449	2,12294	1979	4169	6148	SO:0001819	synonymous_variant	0			-	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1185G>A	7.37:g.140285449C>T			C9JUI3|Q1RMD5|Q86XY0	Silent	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.K395	ENST00000275884.6	37	c.1185	CCDS43659.1	7																																																																																			-	DENND2A	-	NULL		0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	0	0		62	62		0.00		C	NM_015689		140285449	-1	20		90		tier1	no_errors	ENST00000275884	ensembl	human	known	74_37	silent	18.18		SNP	1.000	T	20	90
ANKRD23	200539	genome.wustl.edu	37	2	97506580	97506580	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:97506580C>T	ENST00000318357.4	-	4	411	c.370G>A	c.(370-372)Gag>Aag	p.E124K	ANKRD23_ENST00000418232.1_Missense_Mutation_p.E124K|ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000476975.1_5'UTR	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	124					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						ATCAGGTACTCCTGGTTCTCA	0.577													ENSG00000163126																																					0													132.0	116.0	121.0					2																	97506580		2203	4300	6503	SO:0001583	missense	0			-		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.370G>A	2.37:g.97506580C>T	ENSP00000321679:p.Glu124Lys		Q711K7|Q8NAJ7	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.E124K	ENST00000318357.4	37	c.370	CCDS2027.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190265	0.78789	.	.	ENSG00000163126	ENST00000318357;ENST00000418232	T;T	0.63417	-0.04;-0.04	5.56	5.56	0.83823	Ankyrin repeat-containing domain (4);	0.000000	0.39985	N	0.001204	T	0.50548	0.1622	L	0.41632	1.29	0.80722	D	1	P	0.43231	0.801	B	0.40741	0.339	T	0.51364	-0.8715	10	0.05525	T	0.97	-29.5967	15.0096	0.71539	0.0:1.0:0.0:0.0	.	124	Q86SG2	ANR23_HUMAN	K	124	ENSP00000321679:E124K;ENSP00000398987:E124K	ENSP00000321679:E124K	E	-	1	0	ANKRD23	96870307	0.466000	0.25823	1.000000	0.80357	0.950000	0.60333	0.193000	0.17116	2.615000	0.88500	0.561000	0.74099	GAG	-	ANKRD23	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.577	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD23	HGNC	protein_coding	OTTHUMT00000252956.1	0	0		27	27		0.00		C	NM_144994		97506580	-1	13		27		tier1	no_errors	ENST00000318357	ensembl	human	known	74_37	missense	32.50		SNP	1.000	T	13	27
NFIA	4774	genome.wustl.edu	37	1	61892191	61892191	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:61892191G>A	ENST00000403491.3	+	10	1959	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	NFIA_ENST00000371189.4_Missense_Mutation_p.R537Q|NFIA_ENST00000371185.2_Missense_Mutation_p.R470Q|NFIA_ENST00000485903.2_Missense_Mutation_p.R449Q|NFIA_ENST00000371187.3_Intron|NFIA_ENST00000371191.1_Missense_Mutation_p.R515Q|NFIA_ENST00000407417.3_Missense_Mutation_p.R484Q|NFIA_ENST00000357977.5_Missense_Mutation_p.R140Q|NFIA_ENST00000371184.2_Missense_Mutation_p.R363Q	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	492					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	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)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTTGGACCACGGGATCCAAGC	0.512													ENSG00000162599																																					0													101.0	94.0	96.0					1																	61892191		692	1591	2283	SO:0001583	missense	0			-	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1475G>A	1.37:g.61892191G>A	ENSP00000384523:p.Arg492Gln		B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_D-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_D-bd-dom	p.R537Q	ENST00000403491.3	37	c.1610	CCDS44156.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.577595	0.96565	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.79	5.79	0.91817	.	0.055148	0.64402	D	0.000001	T	0.75715	0.3887	M	0.76328	2.33	0.40344	D	0.979062	D;P;D;P	0.69078	0.997;0.913;0.992;0.913	D;P;D;P	0.70227	0.964;0.863;0.968;0.863	T	0.70988	-0.4722	10	0.23891	T	0.37	-13.2223	20.0435	0.97601	0.0:0.0:1.0:0.0	.	537;515;470;492	F8W8W3;B1AKN8;B1AKN5;Q12857	.;.;.;NFIA_HUMAN	Q	515;484;537;492;470;363;449	ENSP00000360233:R515Q;ENSP00000384680:R484Q;ENSP00000360231:R537Q;ENSP00000384523:R492Q;ENSP00000360227:R470Q;ENSP00000360226:R363Q	ENSP00000360226:R363Q	R	+	2	0	NFIA	61664779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.530000	0.90606	2.731000	0.93534	0.650000	0.86243	CGG	-	NFIA	-	pfam_CTF/NFI		0.512	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	HGNC	protein_coding	OTTHUMT00000023799.3	0	0		88	88		0.00		G	NM_005595		61892191	+1	56		82		tier1	no_errors	ENST00000371189	ensembl	human	known	74_37	missense	40.58		SNP	1.000	A	56	82
KSR2	283455	genome.wustl.edu	37	12	118199039	118199039	+	Silent	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:118199039G>T	ENST00000339824.5	-	4	1490	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	KSR2_ENST00000425217.1_Silent_p.R226R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	255	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCGCGTGCCGCTGCCGGGGC	0.731													ENSG00000171435																																					0													27.0	37.0	34.0					12																	118199039		1817	3991	5808	SO:0001819	synonymous_variant	0			-	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.763C>A	12.37:g.118199039G>T			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R255	ENST00000339824.5	37	c.763		12																																																																																			-	KSR2	-	NULL		0.731	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	0	0		45	45		0.00		G	NM_173598		118199039	-1	12		43		tier1	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	21.82		SNP	1.000	T	12	43
SULT1C2	6819	genome.wustl.edu	37	2	108921994	108921994	+	Missense_Mutation	SNP	C	C	T	rs112864909		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:108921994C>T	ENST00000437390.2	+	7	940	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C	SULT1C2_ENST00000326853.5_Missense_Mutation_p.R252C|SULT1C2_ENST00000251481.6_Missense_Mutation_p.R241C|SULT1C2_ENST00000409880.1_Missense_Mutation_p.R204C			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	247					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATGACAAATCGTTCTACAGT	0.403													ENSG00000198203																																					0													98.0	97.0	97.0					2																	108921994		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.763C>T	2.37:g.108921994C>T	ENSP00000399651:p.Arg255Cys		Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R252C	ENST00000437390.2	37	c.754		2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.80	2.643919	0.47258	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.55	4.55	0.56014	Sulfotransferase domain (1);	0.189428	0.37761	N	0.001952	T	0.71970	0.3403	L	0.45228	1.405	0.47905	D	0.999544	B;P;B;B	0.35700	0.032;0.516;0.017;0.101	B;B;B;B	0.28638	0.032;0.092;0.022;0.032	T	0.74372	-0.3687	10	0.87932	D	0	.	6.5163	0.22250	0.0:0.8015:0.0:0.1985	.	255;156;241;252	B4DLP0;B4DPE8;O00338;O00338-2	.;.;ST1C2_HUMAN;.	C	241;252;204;255	ENSP00000251481:R241C;ENSP00000319622:R252C;ENSP00000387054:R204C;ENSP00000399651:R255C	ENSP00000251481:R241C	R	+	1	0	SULT1C2	108288426	0.989000	0.36119	0.998000	0.56505	0.967000	0.64934	1.618000	0.36954	2.505000	0.84491	0.655000	0.94253	CGT	rs112864909	SULT1C2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.403	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	HGNC	protein_coding	OTTHUMT00000329969.2	0	0		83	83		0.00		C	NM_176825		108921994	+1	37		35		tier1	no_errors	ENST00000326853	ensembl	human	known	74_37	missense	51.39		SNP	1.000	T	37	35
OR5V1	81696	genome.wustl.edu	37	6	29323687	29323687	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:29323687C>T	ENST00000377154.1	-	4	585	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	OR5V1_ENST00000543825.1_Missense_Mutation_p.G96R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACCACACACCCCACATAAGAA	0.438													ENSG00000243729																									Ovarian(32;43 883 21137 32120 42650)												0													73.0	73.0	73.0					6																	29323687		2203	4299	6502	SO:0001583	missense	0			-		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.286G>A	6.37:g.29323687C>T	ENSP00000366359:p.Gly96Arg		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G96R	ENST00000377154.1	37	c.286	CCDS4657.1	6	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117134	0.20795	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.09817	2.94;2.94	4.36	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33419	N	0.004937	T	0.11410	0.0278	M	0.63169	1.94	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.06516	-1.0822	10	0.54805	T	0.06	-20.9392	5.7314	0.18042	0.143:0.6407:0.138:0.0782	.	96	Q9UGF6	OR5V1_HUMAN	R	96	ENSP00000366359:G96R;ENSP00000443309:G96R	ENSP00000366356:G96R	G	-	1	0	OR5V1	29431666	0.001000	0.12720	0.002000	0.10522	0.022000	0.10575	1.422000	0.34826	0.201000	0.20466	-0.310000	0.09108	GGG	-	OR5V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	HGNC	protein_coding	OTTHUMT00000076398.3	0	0		50	50		0.00		C			29323687	-1	12		49		tier1	no_errors	ENST00000377154	ensembl	human	known	74_37	missense	19.35		SNP	0.008	T	12	49
ZBTB22	9278	genome.wustl.edu	37	6	33283754	33283754	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33283754G>A	ENST00000431845.2	-	2	1091	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.P314S|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGTCTTGGGGAACCAGGGGT	0.562													ENSG00000236104																																					0													104.0	87.0	93.0					6																	33283754		2203	4300	6503	SO:0001583	missense	0			-	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.940C>T	6.37:g.33283754G>A	ENSP00000407545:p.Pro314Ser		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P314S	ENST00000431845.2	37	c.940	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	G	2.377	-0.342971	0.05243	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.04406	3.63;3.63	3.88	0.739	0.18324	.	.	.	.	.	T	0.00496	0.0016	N	0.01874	-0.695	0.25334	N	0.989009	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	9	0.09590	T	0.72	.	7.3553	0.26714	0.3559:0.0:0.6441:0.0	.	314	O15209	ZBT22_HUMAN	S	314	ENSP00000404403:P314S;ENSP00000407545:P314S	ENSP00000404403:P314S	P	-	1	0	ZBTB22	33391732	1.000000	0.71417	0.861000	0.33841	0.715000	0.41141	1.322000	0.33689	0.239000	0.21243	0.448000	0.29417	CCC	-	ZBTB22	-	NULL		0.562	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	0	0		71	71		0.00		G			33283754	-1	16		65		tier1	no_errors	ENST00000418724	ensembl	human	known	74_37	missense	19.75		SNP	0.971	A	16	65
WDR27	253769	genome.wustl.edu	37	6	170047928	170047928	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:170047928G>A	ENST00000448612.1	-	16	1707	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	WDR27_ENST00000423258.1_Missense_Mutation_p.P406L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.P533L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	503						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)		CTGGGGGCCGGGCTTGGTGGG	0.602													ENSG00000184465																																					0													9.0	14.0	12.0					6																	170047928		2021	4146	6167	SO:0001583	missense	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	ENST00000448612.1:c.1598C>T	6.37:g.170047928G>A	ENSP00000416289:p.Pro533Leu		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P533L	ENST00000448612.1	37	c.1598	CCDS47520.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.505|2.505	-0.314372|-0.314372	0.05422|0.05422	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258|ENST00000441385	T;T;D|T	0.95980|0.22539	1.87;1.04;-3.87|1.95	3.9|3.9	1.52|1.52	0.23074|0.23074	.|.	1.056170|1.056170	0.07462|0.07462	N|N	0.900791|0.900791	T|T	0.01730|0.01730	0.0055|0.0055	N|N	0.01576|0.01576	-0.805|-0.805	0.19775|0.19775	N|N	0.99996|0.99996	B;B;B|.	0.09022|.	0.0;0.002;0.001|.	B;B;B|.	0.08055|.	0.0;0.003;0.001|.	T|T	0.44283|0.44283	-0.9338|-0.9338	10|8	0.10636|0.22109	T|T	0.68|0.4	-8.4478|-8.4478	5.1272|5.1272	0.14890|0.14890	0.7384:0.0:0.2616:0.0|0.7384:0.0:0.2616:0.0	.|.	533;406;533|.	F2Z2U5;A2RRH5-2;C9JGV0|.	.;.;.|.	L|S	533;533;406|167	ENSP00000416289:P533L;ENSP00000330265:P533L;ENSP00000397869:P406L|ENSP00000411915:P167S	ENSP00000330265:P533L|ENSP00000411915:P167S	P|P	-|-	2|1	0|0	WDR27|WDR27	169789853|169789853	0.008000|0.008000	0.16893|0.16893	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	0.639000|0.639000	0.24690|0.24690	0.209000|0.209000	0.20645|0.20645	-0.302000|-0.302000	0.09304|0.09304	CCC|CCG	-	WDR27	-	smart_WD40_repeat		0.602	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	0	0		112	112		0.00		G	NM_182552		170047928	-1	54		117		tier1	no_errors	ENST00000448612	ensembl	human	known	74_37	missense	31.58		SNP	0.004	A	54	117
C18orf8	29919	genome.wustl.edu	37	18	21109648	21109648	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:21109648C>T	ENST00000269221.3	+	16	1576	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F	C18orf8_ENST00000590868.1_Missense_Mutation_p.S441F|C18orf8_ENST00000591367.1_3'UTR	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	489	Mic1.					lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TACATTCGTTCTCTTAACCAG	0.388													ENSG00000141452																																					0													155.0	153.0	153.0					18																	21109648		2203	4300	6503	SO:0001583	missense	0			-	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1466C>T	18.37:g.21109648C>T	ENSP00000269221:p.Ser489Phe		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	pfam_Mic1,superfamily_WD40_repeat_dom	p.S489F	ENST00000269221.3	37	c.1466	CCDS32803.1	18	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938417	0.92526	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.52	5.52	0.82312	Colon cancer-associated Mic1-like (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88458	0.3053	9	0.87932	D	0	-0.034	19.4741	0.94979	0.0:1.0:0.0:0.0	.	332;489	B7Z2Y1;Q96DM3	.;MIC1_HUMAN	F	489;332;441;332	.	ENSP00000269221:S489F	S	+	2	0	C18orf8	19363646	1.000000	0.71417	0.964000	0.40570	0.986000	0.74619	7.331000	0.79192	2.595000	0.87683	0.655000	0.94253	TCT	-	C18orf8	-	pfam_Mic1		0.388	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	HGNC	protein_coding	OTTHUMT00000445386.1	0	0		22	22		0.00		C	NM_013326		21109648	+1	13		25		tier1	no_errors	ENST00000269221	ensembl	human	known	74_37	missense	34.21		SNP	1.000	T	13	25
CAPN9	10753	genome.wustl.edu	37	1	230898412	230898412	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:230898412G>A	ENST00000271971.2	+	4	529	c.416G>A	c.(415-417)aGt>aAt	p.S139N	CAPN9_ENST00000366666.2_Missense_Mutation_p.S76N|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.S139N	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	139	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGGCAGCACAGTGAGTGGCTG	0.547													ENSG00000135773																																					0													108.0	100.0	103.0					1																	230898412		2203	4300	6503	SO:0001583	missense	0			-	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.416G>A	1.37:g.230898412G>A	ENSP00000271971:p.Ser139Asn		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat	p.S139N	ENST00000271971.2	37	c.416	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532836	0.45073	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.15603	2.41;2.41;2.41	5.33	4.42	0.53409	Peptidase C2, calpain, catalytic domain (3);	0.176182	0.64402	N	0.000012	T	0.05686	0.0149	N	0.01168	-0.975	0.32924	D	0.516236	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.03933	-1.0991	10	0.59425	D	0.04	.	6.4162	0.21717	0.3181:0.0:0.6819:0.0	.	76;139;139	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	N	139;139;76	ENSP00000271971:S139N;ENSP00000346538:S139N;ENSP00000355626:S76N	ENSP00000271971:S139N	S	+	2	0	CAPN9	228965035	0.995000	0.38212	0.920000	0.36463	0.953000	0.61014	2.848000	0.48278	1.235000	0.43724	0.591000	0.81541	AGT	-	CAPN9	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat		0.547	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	0	0		63	63		0.00		G	NM_006615		230898412	+1	40		37		tier1	no_errors	ENST00000271971	ensembl	human	known	74_37	missense	51.95		SNP	0.959	A	40	37
CAPN14	440854	genome.wustl.edu	37	2	31416087	31416087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:31416087G>A	ENST00000403897.3	-	10	1165	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CAPN14_ENST00000444918.2_Nonsense_Mutation_p.Q342*	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	342	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						GCCGCCTCCTGGCTCAACAGG	0.562													ENSG00000214711																																					0													46.0	46.0	46.0					2																	31416087		692	1591	2283	SO:0001587	stop_gained	0			-	AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.1024C>T	2.37:g.31416087G>A	ENSP00000385247:p.Gln342*		B3KRU9	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat	p.Q342*	ENST00000403897.3	37	c.1024	CCDS46254.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551702	0.86127	.	.	ENSG00000214711	ENST00000444918;ENST00000403897	.	.	.	4.53	3.65	0.41850	.	367.945000	0.00357	U	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	12.4633	0.55743	0.0822:0.0:0.9178:0.0	.	.	.	.	X	342	.	ENSP00000385247:Q342X	Q	-	1	0	CAPN14	31269591	0.199000	0.23386	0.033000	0.17914	0.091000	0.18340	1.380000	0.34351	0.904000	0.36572	0.655000	0.94253	CAG	-	CAPN14	-	smart_Peptidase_C2_calpain_cat		0.562	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CAPN14	HGNC	protein_coding	OTTHUMT00000325010.1	0	0		61	61		0.00		G	NM_001145122		31416087	-1	13		52		tier1	no_errors	ENST00000444918	ensembl	human	known	74_37	nonsense	20.00		SNP	0.984	A	13	52
LGI3	203190	genome.wustl.edu	37	8	22006032	22006032	+	Missense_Mutation	SNP	G	G	A	rs531970563		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:22006032G>A	ENST00000306317.2	-	8	1577	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	LGI3_ENST00000424267.2_Missense_Mutation_p.R406C	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	430					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)	p.R430G(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGCCGGCACGAAAGTGTTTC	0.632													ENSG00000168481	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16584	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											64.0	53.0	57.0					8																	22006032		2203	4300	6503	SO:0001583	missense	0			-	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1288C>T	8.37:g.22006032G>A	ENSP00000302297:p.Arg430Cys		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R430C	ENST00000306317.2	37	c.1288	CCDS6025.1	8	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315565	0.60524	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.80824	-1.42;-1.42	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.071557	0.64402	D	0.000009	T	0.81602	0.4857	L	0.29908	0.895	0.45733	D	0.998632	D;D	0.89917	1.0;1.0	D;P	0.63192	0.912;0.848	T	0.83129	-0.0114	10	0.72032	D	0.01	-13.3407	11.3377	0.49513	0.0:0.0:0.8185:0.1815	.	406;430	A5PLP2;Q8N145	.;LGI3_HUMAN	C	430;406	ENSP00000302297:R430C;ENSP00000399121:R406C	ENSP00000302297:R430C	R	-	1	0	LGI3	22061977	1.000000	0.71417	0.983000	0.44433	0.913000	0.54294	3.333000	0.52090	2.396000	0.81511	0.561000	0.74099	CGT	-	LGI3	-	pfam_EPTP,pfscan_EAR		0.632	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	HGNC	protein_coding	OTTHUMT00000254482.1	0	0		37	37		0.00		G			22006032	-1	26		28		tier1	no_errors	ENST00000306317	ensembl	human	known	74_37	missense	48.15		SNP	1.000	A	26	28
KIF26B	55083	genome.wustl.edu	37	1	245772644	245772644	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:245772644C>T	ENST00000407071.2	+	8	2168	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	KIF26B_ENST00000366518.4_Silent_p.L195L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	576	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTCTTGGCTCTTCAAGCTCA	0.547													ENSG00000162849																																					0													38.0	38.0	38.0					1																	245772644		1924	4127	6051	SO:0001819	synonymous_variant	0			-	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1728C>T	1.37:g.245772644C>T			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L576	ENST00000407071.2	37	c.1728	CCDS44342.1	1																																																																																			-	KIF26B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.547	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	0	0		82	82		0.00		C	XM_371354		245772644	+1	42		52		tier1	no_errors	ENST00000407071	ensembl	human	known	74_37	silent	44.21		SNP	1.000	T	42	52
ZNF788	388507	genome.wustl.edu	37	19	12221230	12221230	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12221230G>A	ENST00000339302.4	+	0	319				ZNF788_ENST00000430298.2_Silent_p.R38R|ZNF788_ENST00000397759.3_5'Flank|ZNF788_ENST00000596883.1_Silent_p.R58R|ZNF20_ENST00000600335.1_Intron			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						AAACCTTGAGGAACTTGGCCT	0.448													ENSG00000214189																									Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001623	5_prime_UTR_variant	0			-	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.-319G>A	19.37:g.12221230G>A			Q6ZRE4	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.R58	ENST00000339302.4	37	c.174		19																																																																																			-	ZNF788	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.448	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ZNF788	HGNC	protein_coding		0	0		80	80		0.00		G	XM_930581		12221230	+1	16		81		tier1	no_errors	ENST00000596883	ensembl	human	putative	74_37	silent	16.49		SNP	0.228	A	16	81
CDHR4	389118	genome.wustl.edu	37	3	49836363	49836363	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49836363G>A	ENST00000412678.2	-	4	412				CDHR4_ENST00000343366.4_Missense_Mutation_p.S156F|CDHR4_ENST00000487256.1_Intron	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GGCCAGAGTGGAGGTCAGGGA	0.632													ENSG00000187492																																					0													33.0	37.0	35.0					3																	49836363		2040	4180	6220	SO:0001627	intron_variant	0			-		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.404-13C>T	3.37:g.49836363G>A			Q6UXT0	Missense_Mutation	SNP	NULL	p.S156F	ENST00000412678.2	37	c.467	CCDS46829.1	3	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.137041	0.01742	.	.	ENSG00000187492	ENST00000343366	T	0.54279	0.58	5.4	-1.05	0.10036	.	1.184840	0.06223	N	0.687105	T	0.35189	0.0923	.	.	.	0.21652	N	0.999608	B	0.16802	0.019	B	0.16289	0.015	T	0.36432	-0.9748	9	0.87932	D	0	.	0.4708	0.00532	0.3129:0.1263:0.3024:0.2584	.	156	A6H8M9-2	.	F	156	ENSP00000341302:S156F	ENSP00000341302:S156F	S	-	2	0	CDHR4	49811367	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.161000	0.10026	0.013000	0.14918	0.650000	0.86243	TCC	-	CDHR4	-	NULL		0.632	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	0	0		29	29		0.00		G	NM_001007540		49836363	-1	14		19		tier1	no_errors	ENST00000343366	ensembl	human	known	74_37	missense	42.42		SNP	0.000	A	14	19
SNORA64	26784	genome.wustl.edu	37	2	30410410	30410410	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:30410410C>T	ENST00000384458.1	+	0	111									small nucleolar RNA, H/ACA box 64																		AATGGCCTCTCTGTTCCTAGG	0.448													ENSG00000207187																																					0																																												0			-	Y11158		16p13.3	2013-09-05	2006-04-05	2006-04-05	ENSG00000207405	ENSG00000207405		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	10221	non-coding RNA	RNA, small nucleolar			"""RNA, U64 small nucleolar"""	RNU64		15199136, 16381836	Standard	NR_002326		Approved	U64	uc002cnq.2				2.37:g.30410410C>T				R	SNP	-	NULL	ENST00000384458.1	37	NULL		2																																																																																			-	SNORA64	-	-		0.448	SNORA64.4-201	NOVEL	basic	snoRNA	ENSG00000207187	RFAM	snoRNA		0	0		23	23		0.00		C	NR_002326		30410410	+1	15		20		tier1	no_errors	ENST00000384458	ensembl	human	novel	74_37	rna	41.67		SNP	1.000	T	15	20
COL21A1	81578	genome.wustl.edu	37	6	55942506	55942506	+	Intron	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:55942506T>A	ENST00000244728.5	-	18	2210				COL21A1_ENST00000370808.2_Intron|COL21A1_ENST00000370819.1_Intron|COL21A1_ENST00000535941.1_Intron|COL21A1_ENST00000467045.1_Intron	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATATTGCTATTTGTAATAATC	0.229													ENSG00000124749																																					0																																										SO:0001627	intron_variant	0			-	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1813-135A>T	6.37:g.55942506T>A			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	R	SNP	-	NULL	ENST00000244728.5	37	NULL	CCDS55025.1	6																																																																																			-	COL21A1	-	-		0.229	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	0	0		22	22		0.00		T			55942506	-1	12		15		tier1	no_errors	ENST00000484987	ensembl	human	putative	74_37	rna	44.44		SNP	0.000	A	12	15
ADAM33	80332	genome.wustl.edu	37	20	3652610	3652610	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3652610G>A	ENST00000356518.2	-	15	1861	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Silent_p.A540A|ADAM33_ENST00000350009.2_Silent_p.A540A	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	540	Cys-rich.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCTGGAAACAGGCCTCGGGAG	0.667													ENSG00000149451																																					0													23.0	19.0	21.0					20																	3652610		2173	4258	6431	SO:0001819	synonymous_variant	0			-	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1620C>T	20.37:g.3652610G>A			A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A540	ENST00000356518.2	37	c.1620	CCDS13058.1	20																																																																																			-	ADAM33	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich		0.667	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	HGNC	protein_coding	OTTHUMT00000077763.2	0	0		67	67		0.00		G	NM_025220		3652610	-1	27		82		tier1	no_errors	ENST00000356518	ensembl	human	known	74_37	silent	24.77		SNP	0.878	A	27	82
RIF1	55183	genome.wustl.edu	37	2	152321624	152321624	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152321624C>T	ENST00000243326.5	+	29	6073	c.5590C>T	c.(5590-5592)Ccg>Tcg	p.P1864S	RIF1_ENST00000444746.2_Missense_Mutation_p.P1864S|RIF1_ENST00000453091.2_Missense_Mutation_p.P1864S|RIF1_ENST00000430328.2_Missense_Mutation_p.P1864S|RIF1_ENST00000428287.2_Missense_Mutation_p.P1864S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AACTGTTGGCCCGTGTTTAGG	0.363													ENSG00000080345																																					0													57.0	62.0	60.0					2																	152321624		2203	4300	6503	SO:0001583	missense	0			-	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5590C>T	2.37:g.152321624C>T	ENSP00000243326:p.Pro1864Ser		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.P1864S	ENST00000243326.5	37	c.5590	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400879	0.25291	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.19938	2.12;2.11;2.11;2.12;2.11	5.68	2.91	0.33838	.	0.572459	0.19123	N	0.122124	T	0.13415	0.0325	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.29301	0.155;0.241	B;B	0.26094	0.03;0.066	T	0.17349	-1.0372	10	0.38643	T	0.18	-2.9569	5.4949	0.16797	0.0:0.5651:0.1364:0.2985	.	1864;1864	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	S	1864	ENSP00000390181:P1864S;ENSP00000414615:P1864S;ENSP00000415691:P1864S;ENSP00000243326:P1864S;ENSP00000416123:P1864S	ENSP00000243326:P1864S	P	+	1	0	RIF1	152029870	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.121000	0.15667	0.762000	0.33152	-0.143000	0.13931	CCG	-	RIF1	-	NULL		0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	0	0		73	73		0.00		C			152321624	+1	36		39		tier1	no_errors	ENST00000243326	ensembl	human	known	74_37	missense	48.00		SNP	0.001	T	36	39
VILL	50853	genome.wustl.edu	37	3	38047358	38047358	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38047358C>T	ENST00000283713.6	+	17	2292	c.2026C>T	c.(2026-2028)Cac>Tac	p.H676Y	VILL_ENST00000465644.1_Missense_Mutation_p.H394Y|VILL_ENST00000383759.2_Missense_Mutation_p.H676Y			O15195	VILL_HUMAN	villin-like	676					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGAAGACTCACCCAGCAGG	0.617													ENSG00000136059																																					0													92.0	96.0	95.0					3																	38047358		2203	4300	6503	SO:0001583	missense	0			-		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2026C>T	3.37:g.38047358C>T	ENSP00000283713:p.His676Tyr		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.H676Y	ENST00000283713.6	37	c.2026	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142356	0.77888	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.55052	0.54;0.54;0.54	4.43	4.43	0.53597	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.81802	2.56	0.50632	D	0.999881	D	0.89917	1.0	D	0.91635	0.999	T	0.79320	-0.1852	10	0.72032	D	0.01	-28.7684	17.0212	0.86434	0.0:1.0:0.0:0.0	.	676	O15195	VILL_HUMAN	Y	676;676;662;394	ENSP00000283713:H676Y;ENSP00000373266:H676Y;ENSP00000422096:H394Y	ENSP00000283713:H676Y	H	+	1	0	VILL	38022362	1.000000	0.71417	0.995000	0.50966	0.692000	0.40212	7.673000	0.83973	2.183000	0.69458	0.462000	0.41574	CAC	-	VILL	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin		0.617	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	0	0		29	29		0.00		C	NM_015873		38047358	+1	14		31		tier1	no_errors	ENST00000283713	ensembl	human	known	74_37	missense	31.11		SNP	1.000	T	14	31
NSD1	64324	genome.wustl.edu	37	5	176721767	176721767	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:176721767G>A	ENST00000439151.2	+	23	7443	c.7398G>A	c.(7396-7398)aaG>aaA	p.K2466K	NSD1_ENST00000347982.4_Silent_p.K2197K|NSD1_ENST00000361032.4_Silent_p.K2363K|NSD1_ENST00000354179.4_Silent_p.K2197K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2466					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCGCCAGAAGGAGCGGGCAG	0.502			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			ENSG00000165671																												Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													74.0	73.0	73.0					5																	176721767		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	-	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7398G>A	5.37:g.176721767G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.K2466	ENST00000439151.2	37	c.7398	CCDS4412.1	5																																																																																			-	NSD1	-	NULL		0.502	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	0	0		28	28		0.00		G	NM_172349		176721767	+1	17		29		tier1	no_errors	ENST00000439151	ensembl	human	known	74_37	silent	36.17		SNP	0.999	A	17	29
ABCC3	8714	genome.wustl.edu	37	17	48753302	48753302	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48753302C>T	ENST00000285238.8	+	22	2998	c.2918C>T	c.(2917-2919)gCc>gTc	p.A973V	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	973	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ACCACGCTGGCCATCTGTCTC	0.572													ENSG00000108846																																					0													93.0	83.0	87.0					17																	48753302		2203	4300	6503	SO:0001583	missense	0			-	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2918C>T	17.37:g.48753302C>T	ENSP00000285238:p.Ala973Val		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.A973V	ENST00000285238.8	37	c.2918	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	5.121	0.207978	0.09704	.	.	ENSG00000108846	ENST00000285238	D	0.89875	-2.58	5.36	-3.79	0.04320	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.067360	0.07281	N	0.870786	T	0.77089	0.4079	N	0.10782	0.045	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.59144	-0.7509	10	0.15499	T	0.54	-0.0899	14.6678	0.68921	0.0:0.2184:0.0:0.7816	.	973	O15438	MRP3_HUMAN	V	973	ENSP00000285238:A973V	ENSP00000285238:A973V	A	+	2	0	ABCC3	46108301	0.034000	0.19679	0.000000	0.03702	0.023000	0.10783	0.584000	0.23864	-0.860000	0.04099	-0.136000	0.14681	GCC	-	ABCC3	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc		0.572	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	0	0		38	38		0.00		C	NM_020038		48753302	+1	24		36		tier1	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	39.34		SNP	0.000	T	24	36
IL1RAPL2	26280	genome.wustl.edu	37	X	105011099	105011099	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:105011099C>T	ENST00000372582.1	+	11	2262	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	IL1RAPL2_ENST00000344799.4_Silent_p.I502I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	502	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGGAGAAATCAAAGTGATTT	0.403													ENSG00000189108																																					0													93.0	90.0	91.0					X																	105011099		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1506C>T	X.37:g.105011099C>T			Q2M3U3|Q9NZN0	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ	p.I502	ENST00000372582.1	37	c.1506	CCDS14517.1	X																																																																																			-	IL1RAPL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.403	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	0	0		40	40		0.00		C	NM_017416		105011099	+1	45		17		tier1	no_errors	ENST00000344799	ensembl	human	known	74_37	silent	72.58		SNP	1.000	T	45	17
PRDM7	11105	genome.wustl.edu	37	16	90160890	90160890	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:90160890C>T	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CACCGCCCTCCTGGGAACGCG	0.731													ENSG00000261812																																					0																																										SO:0001631	upstream_gene_variant	0			-	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160890C>T	Exception_encountered		A4Q9G8|Q08EM4|Q9NQW4	R	SNP	-	NULL	ENST00000569206.1	37	NULL		16																																																																																			-	TUBB8P7	-	-		0.731	PRDM7-009	KNOWN	basic	processed_transcript	TUBB8P7	HGNC	protein_coding	OTTHUMT00000420855.1	0	0		55	55		0.00		C			90160890	+1	31		28		tier1	no_errors	ENST00000564451	ensembl	human	known	74_37	rna	52.54		SNP	0.988	T	31	28
SPDYC	387778	genome.wustl.edu	37	11	64942443	64942443	+	IGR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64942443G>A	ENST00000377185.2	+	0	991				AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCAGGTGGGAGGGGCAGAGGG	0.557													ENSG00000255200																																					0																																										SO:0001628	intergenic_variant	0			-	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611		11.37:g.64942443G>A				R	SNP	-	NULL	ENST00000377185.2	37	NULL	CCDS31606.1	11																																																																																			-	AP003068.18	-	-		0.557	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255200	Clone_based_vega_gene	protein_coding	OTTHUMT00000385299.1	0	0		35	35		0.00		G	NM_001008778		64942443	-1	24		40		tier1	no_errors	ENST00000534819	ensembl	human	known	74_37	rna	37.50		SNP	0.940	A	24	40
PCDHB7	56129	genome.wustl.edu	37	5	140554453	140554453	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140554453C>T	ENST00000231137.3	+	1	2211	c.2037C>T	c.(2035-2037)gaC>gaT	p.D679D	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	679					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCGGACCAGGCCAACT	0.697													ENSG00000113212																																					0													53.0	85.0	74.0					5																	140554453		2195	4293	6488	SO:0001819	synonymous_variant	0			-	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2037C>T	5.37:g.140554453C>T			A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D679	ENST00000231137.3	37	c.2037	CCDS4249.1	5																																																																																			-	PCDHB7	-	NULL		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	0	0		82	82		0.00		C	NM_018940		140554453	+1	32		119		tier1	no_errors	ENST00000231137	ensembl	human	known	74_37	silent	21.19		SNP	0.005	T	32	119
FCRL2	79368	genome.wustl.edu	37	1	157718702	157718702	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157718702G>A	ENST00000361516.3	-	9	1404	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	FCRL2_ENST00000368181.4_Silent_p.T168T|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	452					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATGTCTGGGGTTGGGCTTG	0.507													ENSG00000132704																																					0													92.0	91.0	92.0					1																	157718702		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1356C>T	1.37:g.157718702G>A			A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T452	ENST00000361516.3	37	c.1356	CCDS1168.1	1																																																																																			-	FCRL2	-	NULL		0.507	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	0	0		73	73		0.00		G	NM_030764		157718702	-1	13		98		tier1	no_errors	ENST00000361516	ensembl	human	known	74_37	silent	11.61		SNP	0.005	A	13	98
VPREB1	7441	genome.wustl.edu	37	22	22599580	22599580	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:22599580C>T	ENST00000403807.3	+	2	408	c.269C>T	c.(268-270)tCc>tTc	p.S90F	VPREB1_ENST00000302273.2_Missense_Mutation_p.S89F			P12018	VPREB_HUMAN	pre-B lymphocyte 1	90	Framework-3.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TTCTCTGGATCCAAAGATGTG	0.592													ENSG00000169575																																					0													42.0	48.0	46.0					22																	22599580		2203	4300	6503	SO:0001583	missense	0			-	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.269C>T	22.37:g.22599580C>T	ENSP00000385361:p.Ser90Phe		B5MCG2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S90F	ENST00000403807.3	37	c.269	CCDS13798.1	22	.	.	.	.	.	.	.	.	.	.	c	14.92	2.678769	0.47886	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.67345	-0.26;-0.26	3.91	2.8	0.32819	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.156056	0.30771	N	0.008914	T	0.75034	0.3795	M	0.90922	3.16	0.41583	D	0.988753	P	0.43938	0.822	P	0.46975	0.533	T	0.77928	-0.2404	10	0.72032	D	0.01	.	8.5509	0.33451	0.0:0.8663:0.0:0.1337	.	90	P12018	VPREB_HUMAN	F	90;89	ENSP00000385361:S90F;ENSP00000304590:S89F	ENSP00000304590:S89F	S	+	2	0	VPREB1	20929580	0.998000	0.40836	0.996000	0.52242	0.561000	0.35649	0.505000	0.22642	0.872000	0.35775	0.650000	0.86243	TCC	-	VPREB1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.592	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPREB1	HGNC	protein_coding	OTTHUMT00000321101.1	0	0		26	26		0.00		C			22599580	+1	6		17		tier1	no_errors	ENST00000403807	ensembl	human	known	74_37	missense	26.09		SNP	1.000	T	6	17
THAP10	56906	genome.wustl.edu	37	15	71184585	71184585	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:71184585G>A	ENST00000249861.4	-	1	539	c.27C>T	c.(25-27)caC>caT	p.H9H	LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank|LRRC49_ENST00000560369.1_5'Flank	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	9							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTTGCCGCAGTGGGCGGCCA	0.721													ENSG00000129028																																					0													7.0	10.0	9.0					15																	71184585		2167	4269	6436	SO:0001819	synonymous_variant	0			-	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.27C>T	15.37:g.71184585G>A			B2R8R0	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.H9	ENST00000249861.4	37	c.27	CCDS10237.1	15																																																																																			-	THAP10	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH		0.721	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP10	HGNC	protein_coding	OTTHUMT00000257242.2	0	0		18	18		0.00		G	NM_020147		71184585	-1	12		10		tier1	no_errors	ENST00000249861	ensembl	human	known	74_37	silent	54.55		SNP	0.988	A	12	10
MATK	4145	genome.wustl.edu	37	19	3778366	3778366	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3778366C>T	ENST00000310132.6	-	14	1737	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	MATK_ENST00000395045.2_Missense_Mutation_p.E448K|MATK_ENST00000395040.2_Missense_Mutation_p.E406K|MATK_ENST00000585778.1_Missense_Mutation_p.E446K	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGCCCTCGGGGGGTTCC	0.697													ENSG00000007264																																					0													29.0	35.0	33.0					19																	3778366		2202	4294	6496	SO:0001583	missense	0			-	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1339G>A	19.37:g.3778366C>T	ENSP00000308734:p.Glu447Lys		B3KNZ9|Q9NST8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E448K	ENST00000310132.6	37	c.1342	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734095	0.48939	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.82984	-1.67;-1.67;-1.67	3.89	2.85	0.33270	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.143965	0.44902	D	0.000404	T	0.68128	0.2967	N	0.12746	0.255	0.44668	D	0.997654	P;P;P	0.50528	0.911;0.936;0.911	B;B;B	0.42361	0.385;0.295;0.385	T	0.67401	-0.5680	10	0.39692	T	0.17	-29.928	10.814	0.46564	0.0:0.9064:0.0:0.0936	.	447;448;447	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	K	448;447;406	ENSP00000378485:E448K;ENSP00000308734:E447K;ENSP00000378481:E406K	ENSP00000308734:E447K	E	-	1	0	MATK	3729366	1.000000	0.71417	0.989000	0.46669	0.201000	0.24016	7.539000	0.82063	0.845000	0.35118	-0.219000	0.12488	GAG	-	MATK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.697	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	0	0		46	46		0.00		C	NM_139355		3778366	-1	22		62		tier1	no_errors	ENST00000395045	ensembl	human	known	74_37	missense	26.19		SNP	0.999	T	22	62
ACSL6	23305	genome.wustl.edu	37	5	131309055	131309055	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:131309055G>A	ENST00000379240.1	-	12	1185	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000543479.1_Silent_p.F344F|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379244.1_Silent_p.F344F|ACSL6_ENST00000379264.2_Silent_p.F369F|ACSL6_ENST00000379272.2_Silent_p.F359F|ACSL6_ENST00000296869.4_Silent_p.F369F|ACSL6_ENST00000431707.1_Silent_p.F324F|ACSL6_ENST00000544770.1_Silent_p.F253F|ACSL6_ENST00000379249.3_Silent_p.F344F|ACSL6_ENST00000379246.1_Silent_p.F355F			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	344					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATCTCCCTGGAAGAAGCCAA	0.542													ENSG00000164398																																					0													98.0	84.0	89.0					5																	131309055		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1032C>T	5.37:g.131309055G>A			J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.F369	ENST00000379240.1	37	c.1107		5																																																																																			-	ACSL6	-	pfam_AMP-dep_Synth/Lig		0.542	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	0	0		25	25		0.00		G	NM_015256		131309055	-1	11		27		tier1	no_errors	ENST00000296869	ensembl	human	known	74_37	silent	28.95		SNP	1.000	A	11	27
IGFBP4	3487	genome.wustl.edu	37	17	38610307	38610307	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:38610307C>T	ENST00000269593.4	+	3	910	c.635C>T	c.(634-636)cCc>cTc	p.P212L	IGFBP4_ENST00000542955.1_Missense_Mutation_p.P112L	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	212	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AACTTCCACCCCAAGCAGGTG	0.652													ENSG00000141753																									GBM(160;940 3581 26177)												0													113.0	106.0	109.0					17																	38610307		2203	4300	6503	SO:0001583	missense	0			-	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.635C>T	17.37:g.38610307C>T	ENSP00000269593:p.Pro212Leu		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-4	p.P212L	ENST00000269593.4	37	c.635	CCDS11367.1	17	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389693	0.61956	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.68181	-0.31;-0.31	5.91	5.91	0.95273	Thyroglobulin type-1 (5);	0.169410	0.52532	D	0.000063	T	0.64283	0.2584	L	0.50919	1.6	0.53688	D	0.999978	B	0.18741	0.03	B	0.24006	0.05	T	0.57195	-0.7853	10	0.31617	T	0.26	-10.9435	18.0867	0.89460	0.0:1.0:0.0:0.0	.	212	P22692	IBP4_HUMAN	L	112;212	ENSP00000437734:P112L;ENSP00000269593:P212L	ENSP00000269593:P212L	P	+	2	0	IGFBP4	35863833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.907000	0.56348	2.793000	0.96121	0.655000	0.94253	CCC	-	IGFBP4	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata		0.652	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBP4	HGNC	protein_coding	OTTHUMT00000257134.1	0	0		43	43		0.00		C	NM_001552		38610307	+1	15		37		tier1	no_errors	ENST00000269593	ensembl	human	known	74_37	missense	28.85		SNP	1.000	T	15	37
OR2V2	285659	genome.wustl.edu	37	5	180582383	180582383	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:180582383G>A	ENST00000328275.1	+	1	441	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATTACTGGGAGCTCCTGGG	0.498													ENSG00000182613																																					0													131.0	128.0	129.0					5																	180582383		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.441G>A	5.37:g.180582383G>A			Q6IFL6|Q8NGV1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147	ENST00000328275.1	37	c.441	CCDS4461.1	5																																																																																			-	OR2V2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2V2	HGNC	protein_coding	OTTHUMT00000253529.1	0	0		57	57		0.00		G			180582383	+1	15		88		tier1	no_errors	ENST00000328275	ensembl	human	known	74_37	silent	14.56		SNP	0.003	A	15	88
TFAP4	7023	genome.wustl.edu	37	16	4322729	4322729	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4322729G>A	ENST00000204517.6	-	1	347	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	7					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TTCTGAGTGGGCACCATGAAA	0.552													ENSG00000090447																																					0													100.0	91.0	94.0					16																	4322729		2197	4300	6497	SO:0001583	missense	0			-	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.19C>T	16.37:g.4322729G>A	ENSP00000204517:p.Pro7Ser		O60409	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P7S	ENST00000204517.6	37	c.19	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591323	0.46214	.	.	ENSG00000090447	ENST00000204517	D	0.98968	-5.28	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	N	0.08118	0	0.54753	D	0.999986	D	0.57571	0.98	D	0.70227	0.968	D	0.99882	1.1114	10	0.72032	D	0.01	.	15.9595	0.79918	0.0:0.0:1.0:0.0	.	7	Q01664	TFAP4_HUMAN	S	7	ENSP00000204517:P7S	ENSP00000204517:P7S	P	-	1	0	TFAP4	4262730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.264000	0.65513	2.048000	0.60808	0.462000	0.41574	CCC	-	TFAP4	-	NULL		0.552	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	HGNC	protein_coding	OTTHUMT00000251595.2	0	0		98	98		0.00		G	NM_003223		4322729	-1	49		122		tier1	no_errors	ENST00000204517	ensembl	human	known	74_37	missense	28.65		SNP	1.000	A	49	122
LOC645166	645166	genome.wustl.edu	37	1	148933406	148933406	+	lincRNA	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:148933406T>C	ENST00000539543.1	+	0	254					NR_027355.2																						CAGGAAATATTAACTTATTTC	0.463													ENSG00000232527																																					0																																												0			-																													1.37:g.148933406T>C				R	SNP	-	NULL	ENST00000539543.1	37	NULL		1																																																																																			-	RP11-14N7.2	-	-		0.463	RP11-14N7.2-201	KNOWN	basic	lincRNA	LOC100996735	Clone_based_vega_gene	lincRNA		0	0		236	236		0.00		T			148933406	+1	28		314		tier1	no_errors	ENST00000457390	ensembl	human	known	74_37	rna	8.16		SNP	0.210	C	28	314
NEK8	284086	genome.wustl.edu	37	17	27068497	27068497	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:27068497G>A	ENST00000268766.6	+	14	1992	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262395.5_5'Flank|TRAF4_ENST00000262396.6_5'Flank|TRAF4_ENST00000444415.3_5'Flank|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	653					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGGATGCCGGACTCCCTCGG	0.582													ENSG00000160602																									NSCLC(6;19 293 14866 25253 49845)												0													148.0	113.0	125.0					17																	27068497		2203	4300	6503	SO:0001583	missense	0			-	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1958G>A	17.37:g.27068497G>A	ENSP00000268766:p.Gly653Glu		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G653E	ENST00000268766.6	37	c.1958	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221062	0.79464	.	.	ENSG00000160602	ENST00000268766	D	0.84442	-1.85	5.83	4.85	0.62838	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.052844	0.85682	D	0.000000	D	0.84933	0.5582	L	0.57536	1.79	0.80722	D	1	P	0.40515	0.719	B	0.42462	0.388	D	0.85106	0.0960	10	0.48119	T	0.1	.	16.0778	0.80979	0.0:0.1341:0.8659:0.0	.	653	Q86SG6	NEK8_HUMAN	E	653	ENSP00000268766:G653E	ENSP00000268766:G653E	G	+	2	0	NEK8	24092624	1.000000	0.71417	0.776000	0.31678	0.880000	0.50808	5.711000	0.68400	1.446000	0.47643	0.655000	0.94253	GGA	-	NEK8	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens		0.582	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	0	0		43	43		0.00		G			27068497	+1	19		42		tier1	no_errors	ENST00000268766	ensembl	human	known	74_37	missense	31.15		SNP	0.996	A	19	42
HIPK3	10114	genome.wustl.edu	37	11	33370745	33370745	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:33370745C>T	ENST00000303296.4	+	14	3024	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W	HIPK3_ENST00000525975.1_Missense_Mutation_p.R886W|HIPK3_ENST00000456517.1_Missense_Mutation_p.R886W|HIPK3_ENST00000379016.3_Missense_Mutation_p.R886W	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	907	Interaction with AR. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAATATTGATCGGATGTGTTC	0.428													ENSG00000110422																																					0													140.0	131.0	134.0					11																	33370745		2202	4298	6500	SO:0001583	missense	0			-	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2719C>T	11.37:g.33370745C>T	ENSP00000304226:p.Arg907Trp		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	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.R907W	ENST00000303296.4	37	c.2719	CCDS7884.1	11	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890079	0.72524	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.58358	0.34;0.36;0.34;0.34	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000025	T	0.67011	0.2848	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67401	-0.5680	10	0.87932	D	0	.	18.6239	0.91331	0.0:1.0:0.0:0.0	.	886;907	Q9H422-2;Q9H422	.;HIPK3_HUMAN	W	886;907;886;886	ENSP00000431710:R886W;ENSP00000304226:R907W;ENSP00000368301:R886W;ENSP00000398241:R886W	ENSP00000304226:R907W	R	+	1	2	HIPK3	33327321	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	4.178000	0.58284	2.838000	0.97847	0.655000	0.94253	CGG	-	HIPK3	-	NULL		0.428	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	0	0		61	61		0.00		C	NM_005734		33370745	+1	20		38		tier1	no_errors	ENST00000303296	ensembl	human	known	74_37	missense	34.48		SNP	1.000	T	20	38
FLT1	2321	genome.wustl.edu	37	13	28979973	28979973	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:28979973C>T	ENST00000282397.4	-	11	1746	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	FLT1_ENST00000539099.1_Missense_Mutation_p.G499R|FLT1_ENST00000541932.1_Missense_Mutation_p.G499R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	499	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCTGTTTCCCATGTTGCTG	0.368													ENSG00000102755																																					0													184.0	177.0	179.0					13																	28979973		2203	4300	6503	SO:0001583	missense	0			-	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1495G>A	13.37:g.28979973C>T	ENSP00000282397:p.Gly499Arg		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.G499R	ENST00000282397.4	37	c.1495	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398425	0.83120	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.75477	-0.94;-0.37;-0.23	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.116329	0.56097	D	0.000024	D	0.88385	0.6422	M	0.90019	3.08	0.54753	D	0.999985	D;D;D;D	0.76494	0.999;0.999;0.999;0.994	D;D;D;D	0.72982	0.979;0.979;0.979;0.95	D	0.85178	0.1002	10	0.18710	T	0.47	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	499;499;499;499	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	R	499	ENSP00000282397:G499R;ENSP00000437631:G499R;ENSP00000442630:G499R	ENSP00000282397:G499R	G	-	1	0	FLT1	27877973	0.999000	0.42202	0.980000	0.43619	0.994000	0.84299	5.317000	0.65822	2.854000	0.98071	0.655000	0.94253	GGA	-	FLT1	-	smart_Ig_sub,pfscan_Ig-like_dom		0.368	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	0	0		57	57		0.00		C			28979973	-1	15		44		tier1	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	25.42		SNP	0.998	T	15	44
FOXN1	8456	genome.wustl.edu	37	17	26864307	26864307	+	Silent	SNP	G	G	A	rs370998044		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:26864307G>A	ENST00000226247.2	+	8	1829	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	FOXN1_ENST00000579795.1_Silent_p.P600P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	600					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGCAGCCCCGGGCAGTGGTG	0.677													ENSG00000109101																																					0								G		0,4406		0,0,2203	36.0	38.0	37.0		1800	1.9	0.8	17		37	1,8599		0,1,4299	no	coding-synonymous	FOXN1	NM_003593.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		600/649	26864307	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1800G>A	17.37:g.26864307G>A			B2R9Q7|O15352	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P600	ENST00000226247.2	37	c.1800	CCDS11232.1	17																																																																																			-	FOXN1	-	NULL		0.677	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	0	0		30	30		0.00		G			26864307	+1	13		43		tier1	no_errors	ENST00000226247	ensembl	human	known	74_37	silent	23.21		SNP	0.305	A	13	43
STT3B	201595	genome.wustl.edu	37	3	31658539	31658539	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:31658539C>T	ENST00000295770.2	+	7	1304	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	365					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GTGCTGTGTTCCTTAGTGTCA	0.373													ENSG00000163527																																					0													199.0	199.0	199.0					3																	31658539		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1095C>T	3.37:g.31658539C>T			Q96JZ4|Q96KY7	Silent	SNP	pfam_Oligo_trans_STT3	p.F365	ENST00000295770.2	37	c.1095	CCDS2650.1	3																																																																																			-	STT3B	-	pfam_Oligo_trans_STT3		0.373	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	0	0		33	33		0.00		C	NM_178862		31658539	+1	15		33		tier1	no_errors	ENST00000295770	ensembl	human	known	74_37	silent	31.25		SNP	1.000	T	15	33
HYAL3	8372	genome.wustl.edu	37	3	50332650	50332650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:50332650C>T	ENST00000336307.1	-	2	656	c.384G>A	c.(382-384)tgG>tgA	p.W128*	IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000450982.1_Nonsense_Mutation_p.W128*|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000359051.3_Nonsense_Mutation_p.W128*|IFRD2_ENST00000436390.1_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	128					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACCACTCCTCCCAATCCAGCA	0.647													ENSG00000186792																																					0													64.0	72.0	69.0					3																	50332650		2203	4300	6503	SO:0001587	stop_gained	0			-	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.384G>A	3.37:g.50332650C>T	ENSP00000337425:p.Trp128*		O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Nonsense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.W128*	ENST00000336307.1	37	c.384	CCDS2815.1	3	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662571	0.67700	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000450982;ENST00000435141	.	.	.	4.57	4.57	0.56435	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.551	14.9401	0.70986	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000337425:W128X	W	-	3	0	HYAL3	50307654	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.785000	0.68998	2.387000	0.81309	0.456000	0.33151	TGG	-	HYAL3	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase		0.647	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	HYAL3	HGNC	protein_coding	OTTHUMT00000346664.1	0	0		32	32		0.00		C	NM_003549		50332650	-1	12		33		tier1	no_errors	ENST00000336307	ensembl	human	known	74_37	nonsense	26.67		SNP	1.000	T	12	33
RORC	6097	genome.wustl.edu	37	1	151780029	151780029	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:151780029G>A	ENST00000318247.6	-	11	1583	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000356728.6_Silent_p.I471I|RORC_ENST00000392697.3_Silent_p.I546I|LINGO4_ENST00000368820.3_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	492	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGGACCACGATGGGGTGGA	0.577													ENSG00000143365																																					0													119.0	110.0	113.0					1																	151780029		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1476C>T	1.37:g.151780029G>A			Q5SZR9|Q8N5V7|Q8NCY8	Silent	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,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt	p.I546	ENST00000318247.6	37	c.1638	CCDS1004.1	1																																																																																			-	RORC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ROR_rcpt		0.577	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	0	0		41	41		0.00		G			151780029	-1	12		77		tier1	no_errors	ENST00000392697	ensembl	human	known	74_37	silent	13.48		SNP	0.940	A	12	77
GABRR1	2569	genome.wustl.edu	37	6	89907898	89907898	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:89907898G>A	ENST00000454853.2	-	5	523	c.413C>T	c.(412-414)aCc>aTc	p.T138I	GABRR1_ENST00000369451.3_Missense_Mutation_p.T51I|GABRR1_ENST00000435811.1_Missense_Mutation_p.T121I	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	138					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GAGGTTGTTGGTGCTTGGAAA	0.552													ENSG00000146276																																					0													327.0	299.0	309.0					6																	89907898		2203	4300	6503	SO:0001583	missense	0			-		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.413C>T	6.37:g.89907898G>A	ENSP00000412673:p.Thr138Ile		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.T138I	ENST00000454853.2	37	c.413	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038981	0.35989	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.79554	-1.28;-1.28;-1.28	5.92	5.92	0.95590	Neurotransmitter-gated ion-channel ligand-binding (3);	0.352841	0.36134	N	0.002780	T	0.54581	0.1867	N	0.13140	0.3	0.44862	D	0.997874	B;B	0.13145	0.005;0.007	B;B	0.24006	0.02;0.05	T	0.52801	-0.8527	9	.	.	.	-17.5381	15.7662	0.78128	0.0:0.1355:0.8644:0.0	.	121;138	P24046-2;P24046	.;GBRR1_HUMAN	I	138;121;51;51	ENSP00000412673:T138I;ENSP00000394687:T121I;ENSP00000358463:T51I	.	T	-	2	0	GABRR1	89964617	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.481000	0.60250	2.811000	0.96726	0.555000	0.69702	ACC	-	GABRR1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.552	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	0	0		70	70		0.00		G			89907898	-1	14		80		tier1	no_errors	ENST00000454853	ensembl	human	known	74_37	missense	14.89		SNP	1.000	A	14	80
NMUR2	56923	genome.wustl.edu	37	5	151784292	151784292	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:151784292G>A	ENST00000255262.3	-	1	548	c.383C>T	c.(382-384)aCc>aTc	p.T128I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	128					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGCACACGGTCTCAAAGAG	0.617													ENSG00000132911																																					0													68.0	73.0	71.0					5																	151784292		2203	4300	6503	SO:0001583	missense	0			-	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.383C>T	5.37:g.151784292G>A	ENSP00000255262:p.Thr128Ile		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.T128I	ENST00000255262.3	37	c.383	CCDS4321.1	5	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342771	0.61073	.	.	ENSG00000132911	ENST00000255262	T	0.71222	-0.55	5.54	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.142936	0.47852	D	0.000208	T	0.70116	0.3187	L	0.57536	1.79	0.58432	D	0.999999	B	0.22909	0.077	B	0.31812	0.136	T	0.69939	-0.5009	10	0.72032	D	0.01	-23.0478	13.6968	0.62585	0.074:0.0:0.926:0.0	.	128	Q9GZQ4	NMUR2_HUMAN	I	128	ENSP00000255262:T128I	ENSP00000255262:T128I	T	-	2	0	NMUR2	151764485	1.000000	0.71417	0.891000	0.34965	0.897000	0.52465	5.450000	0.66626	1.348000	0.45733	-0.137000	0.14449	ACC	-	NMUR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.617	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	HGNC	protein_coding	OTTHUMT00000252439.1	0	0		35	35		0.00		G	NM_020167		151784292	-1	19		38		tier1	no_errors	ENST00000255262	ensembl	human	known	74_37	missense	33.33		SNP	0.999	A	19	38
SF3B2	10992	genome.wustl.edu	37	11	65826322	65826322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65826322C>T	ENST00000322535.6	+	10	1037	c.988C>T	c.(988-990)Cga>Tga	p.R330*	SF3B2_ENST00000528302.1_Nonsense_Mutation_p.R313*	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	330					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GCGTAGGAACCGAAAGAAGAA	0.587													ENSG00000087365																																					0													34.0	40.0	38.0					11																	65826322		2201	4294	6495	SO:0001587	stop_gained	0			-	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.988C>T	11.37:g.65826322C>T	ENSP00000318861:p.Arg330*		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Nonsense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.R330*	ENST00000322535.6	37	c.988	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917140	0.92249	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000355456;ENST00000530322	.	.	.	5.36	5.36	0.76844	.	0.205164	0.40640	N	0.001057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8516	16.5684	0.84604	0.0:1.0:0.0:0.0	.	.	.	.	X	313;330;328;234;324	.	ENSP00000318861:R330X	R	+	1	2	SF3B2	65582898	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	2.361000	0.44160	2.524000	0.85096	0.561000	0.74099	CGA	-	SF3B2	-	NULL		0.587	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	0	0		64	64		0.00		C			65826322	+1	42		74		tier1	no_errors	ENST00000322535	ensembl	human	known	74_37	nonsense	36.21		SNP	1.000	T	42	74
ZNF318	24149	genome.wustl.edu	37	6	43305569	43305569	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:43305569G>A	ENST00000361428.2	-	10	6244	c.6167C>T	c.(6166-6168)tCc>tTc	p.S2056F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2056					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGATCGGAGGAATTACACCC	0.463													ENSG00000171467																																					0													91.0	83.0	86.0					6																	43305569		2203	4300	6503	SO:0001583	missense	0			-	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6167C>T	6.37:g.43305569G>A	ENSP00000354964:p.Ser2056Phe		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.S2056F	ENST00000361428.2	37	c.6167	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	G	3.156	-0.173138	0.06421	.	.	ENSG00000171467	ENST00000361428	T	0.15017	2.46	5.0	5.0	0.66597	.	1.135150	0.06479	N	0.732506	T	0.04907	0.0132	N	0.14661	0.345	0.27684	N	0.946331	P	0.40834	0.73	B	0.34242	0.178	T	0.11494	-1.0585	10	0.87932	D	0	0.2599	11.7092	0.51616	0.0:0.0:0.8234:0.1766	.	2056	Q5VUA4	ZN318_HUMAN	F	2056	ENSP00000354964:S2056F	ENSP00000354964:S2056F	S	-	2	0	ZNF318	43413547	0.003000	0.15002	0.435000	0.26784	0.010000	0.07245	1.065000	0.30592	2.709000	0.92574	0.655000	0.94253	TCC	-	ZNF318	-	NULL		0.463	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	0	0		104	104		0.00		G	NM_014345		43305569	-1	40		57		tier1	no_errors	ENST00000361428	ensembl	human	known	74_37	missense	41.24		SNP	0.170	A	40	57
DPP10	57628	genome.wustl.edu	37	2	116599908	116599908	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:116599908A>G	ENST00000410059.1	+	26	2858	c.2378A>G	c.(2377-2379)gAa>gGa	p.E793G	DPP10_ENST00000409163.1_Missense_Mutation_p.E743G|DPP10_ENST00000310323.8_Missense_Mutation_p.E786G|DPP10_ENST00000393147.2_Missense_Mutation_p.E797G	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	793						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						CAGGAACCAGAAGAAGATGAA	0.373													ENSG00000175497																																					0													85.0	84.0	84.0					2																	116599908		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.2378A>G	2.37:g.116599908A>G	ENSP00000386565:p.Glu793Gly		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.E797G	ENST00000410059.1	37	c.2390	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986729	0.53934	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.19394	2.15;2.16;2.15;2.16	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.67397	2.05	0.51767	D	0.999939	P;D;P;P	0.71674	0.941;0.998;0.949;0.949	P;D;P;P	0.72982	0.79;0.979;0.621;0.621	T	0.25813	-1.0121	10	0.44086	T	0.13	-3.7827	15.4929	0.75624	1.0:0.0:0.0:0.0	.	786;797;789;793	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	G	793;743;797;786	ENSP00000386565:E793G;ENSP00000387038:E743G;ENSP00000376855:E797G;ENSP00000309066:E786G	ENSP00000309066:E786G	E	+	2	0	DPP10	116316378	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	8.010000	0.88615	2.308000	0.77769	0.533000	0.62120	GAA	-	DPP10	-	NULL		0.373	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	0	0		53	53		0.00		A	NM_020868		116599908	+1	25		39		tier1	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	39.06		SNP	1.000	G	25	39
SLC4A7	9497	genome.wustl.edu	37	3	27431472	27431472	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:27431472G>A	ENST00000295736.5	-	22	3353	c.3283C>T	c.(3283-3285)Ctt>Ttt	p.L1095F	SLC4A7_ENST00000437179.1_Missense_Mutation_p.L976F|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L1087F|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L971F|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L980F|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L645F|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L976F|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L1091F|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L1104F|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L1091F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1095					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACCCATAAAAGGACCAAACAA	0.388													ENSG00000033867																																					0													114.0	118.0	117.0					3																	27431472		2203	4300	6503	SO:0001583	missense	0			-	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3283C>T	3.37:g.27431472G>A	ENSP00000295736:p.Leu1095Phe		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.L1104F	ENST00000295736.5	37	c.3310	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885582	0.72410	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.52	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.99;0.999;0.999;0.988;1.0;0.999;0.999	T	0.77289	-0.2643	10	0.72032	D	0.01	.	10.4806	0.44691	0.0693:0.0:0.7965:0.1342	.	1091;976;1087;1091;1104;645;971;1095;976	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	F	646;1095;971;1104;1091;976;1087;976;1091;980;645;991	ENSP00000411031:L646F;ENSP00000295736:L1095F;ENSP00000416368:L971F;ENSP00000390394:L1104F;ENSP00000414797:L1091F;ENSP00000394252:L976F;ENSP00000406605:L1087F;ENSP00000407382:L976F;ENSP00000406804:L1091F;ENSP00000395336:L980F;ENSP00000373429:L645F;ENSP00000388703:L991F	ENSP00000295736:L1095F	L	-	1	0	SLC4A7	27406476	1.000000	0.71417	0.006000	0.13384	0.944000	0.59088	4.037000	0.57311	0.685000	0.31468	0.650000	0.86243	CTT	-	SLC4A7	-	tigrfam_HCO3_transpt_euk		0.388	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	0	0		81	81		0.00		G	NM_003615		27431472	-1	38		68		tier1	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	35.85		SNP	0.989	A	38	68
ANK3	288	genome.wustl.edu	37	10	61830270	61830270	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:61830270G>T	ENST00000280772.2	-	37	10560	c.10369C>A	c.(10369-10371)Cgc>Agc	p.R3457S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3457					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						CTAAAAGAGCGGTCAGCTGGC	0.438													ENSG00000151150																																					0													89.0	84.0	86.0					10																	61830270		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.10369C>A	10.37:g.61830270G>T	ENSP00000280772:p.Arg3457Ser		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.R3457S	ENST00000280772.2	37	c.10369	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108664	0.77096	.	.	ENSG00000151150	ENST00000280772	T	0.26067	1.76	5.49	5.49	0.81192	.	0.000000	0.42964	D	0.000634	T	0.45155	0.1328	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.08066	-1.0740	10	0.23891	T	0.37	.	19.3746	0.94503	0.0:0.0:1.0:0.0	.	3457	Q12955	ANK3_HUMAN	S	3457	ENSP00000280772:R3457S	ENSP00000280772:R3457S	R	-	1	0	ANK3	61500276	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.515000	0.98015	2.584000	0.87258	0.563000	0.77884	CGC	-	ANK3	-	NULL		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	0	0		42	42		0.00		G	NM_020987		61830270	-1	4		44		tier1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	8.33		SNP	1.000	T	4	44
IGSF10	285313	genome.wustl.edu	37	3	151161405	151161405	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:151161405A>G	ENST00000282466.3	-	5	5329	c.5330T>C	c.(5329-5331)gTt>gCt	p.V1777A	IGSF10_ENST00000495443.1_5'Flank	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	1777	Ig-like C2-type 4.				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)			AATCCAGGTAACTGTAGGGCT	0.517													ENSG00000152580																																					0													135.0	119.0	124.0					3																	151161405		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.5330T>C	3.37:g.151161405A>G	ENSP00000282466:p.Val1777Ala		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.V1777A	ENST00000282466.3	37	c.5330	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331093	0.41297	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.76578	-1.03	5.15	3.91	0.45181	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.849906	0.09980	N	0.731153	T	0.80974	0.4727	M	0.80847	2.515	0.09310	N	0.999998	B	0.22480	0.07	B	0.34038	0.174	T	0.70554	-0.4840	9	.	.	.	.	11.6471	0.51267	0.8516:0.1484:0.0:0.0	.	1777	Q6WRI0	IGS10_HUMAN	A	1777;404	ENSP00000282466:V1777A	.	V	-	2	0	IGSF10	152644095	1.000000	0.71417	0.122000	0.21767	0.811000	0.45836	7.328000	0.79160	1.944000	0.56390	0.477000	0.44152	GTT	-	IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.517	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	0	0		71	71		0.00		A	NM_178822		151161405	-1	35		74		tier1	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	32.11		SNP	0.249	G	35	74
LRRIQ1	84125	genome.wustl.edu	37	12	85460656	85460656	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:85460656A>G	ENST00000393217.2	+	10	2736	c.2675A>G	c.(2674-2676)tAt>tGt	p.Y892C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	892										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAACTTTCATATAATAAAATT	0.254													ENSG00000133640																																					0													47.0	48.0	47.0					12																	85460656		2201	4288	6489	SO:0001583	missense	0			-	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2675A>G	12.37:g.85460656A>G	ENSP00000376910:p.Tyr892Cys		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.Y892C	ENST00000393217.2	37	c.2675	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249266	0.39797	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.25414	1.8	5.44	4.29	0.51040	.	0.325791	0.28809	N	0.014079	T	0.23572	0.0570	L	0.53617	1.68	0.18873	N	0.999988	P;P	0.51791	0.948;0.833	B;B	0.39185	0.293;0.293	T	0.11916	-1.0568	10	0.49607	T	0.09	.	11.701	0.51571	0.93:0.0:0.07:0.0	.	892;867	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	892;867;892	ENSP00000376910:Y892C	ENSP00000256007:Y892C	Y	+	2	0	LRRIQ1	83984787	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	4.168000	0.58216	0.995000	0.38917	0.460000	0.39030	TAT	-	LRRIQ1	-	NULL		0.254	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	0	0		61	61		0.00		A	NM_032165		85460656	+1	30		49		tier1	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	37.97		SNP	1.000	G	30	49
PCDHGA1	56114	genome.wustl.edu	37	5	140710482	140710482	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140710482G>A	ENST00000517417.1	+	1	231	c.231G>A	c.(229-231)ctG>ctA	p.L77L	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.L77L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCGCTCTGAATCCTAGAA	0.577													ENSG00000204956																																					0													118.0	126.0	123.0					5																	140710482		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.231G>A	5.37:g.140710482G>A			Q2M273|Q9Y5D6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L77	ENST00000517417.1	37	c.231	CCDS54922.1	5																																																																																			-	PCDHGA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.577	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	0	0		39	39		0.00		G	NM_018912		140710482	+1	16		46		tier1	no_errors	ENST00000517417	ensembl	human	known	74_37	silent	25.81		SNP	0.977	A	16	46
FBXL19	54620	genome.wustl.edu	37	16	30938630	30938630	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30938630C>T	ENST00000380310.2	+	3	397	c.239C>T	c.(238-240)cCc>cTc	p.P80L	FBXL19_ENST00000565690.1_Splice_Site_p.P60L|FBXL19_ENST00000338343.4_Splice_Site_p.P60L|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Splice_Site_p.P60L	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	80					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCCCAACAGCCCGTGCTCCCA	0.602													ENSG00000099364																																					0													77.0	82.0	80.0					16																	30938630		1940	4129	6069	SO:0001630	splice_region_variant	0			-	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.238-1C>T	16.37:g.30938630C>T			A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P80L	ENST00000380310.2	37	c.239	CCDS45465.1	16	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547963	0.86022	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.34072	1.38;1.67	5.12	5.12	0.69794	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	T	0.66577	0.2803	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.73113	-0.4085	10	0.87932	D	0	-14.6861	17.7151	0.88333	0.0:1.0:0.0:0.0	.	80;80	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	L	60;80	ENSP00000339712:P60L;ENSP00000369666:P80L	ENSP00000339712:P60L	P	+	2	0	FBXL19	30846131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.592000	0.82676	2.575000	0.86900	0.448000	0.29417	CCC	-	FBXL19	-	superfamily_Znf_FYVE_PHD		0.602	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19	HGNC	protein_coding		0	0		83	83		0.00		C	NM_019085	Missense_Mutation	30938630	+1	22		106		tier1	no_errors	ENST00000380310	ensembl	human	known	74_37	missense	17.19		SNP	1.000	T	22	106
GLYAT	10249	genome.wustl.edu	37	11	58480281	58480281	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:58480281G>A	ENST00000344743.3	-	4	409	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	GLYAT_ENST00000529732.1_Missense_Mutation_p.L90F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L90F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	90					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GGTGATCCAAGGAATTCCTGA	0.398													ENSG00000149124																																					0													224.0	200.0	208.0					11																	58480281		2201	4295	6496	SO:0001583	missense	0			-	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.268C>T	11.37:g.58480281G>A	ENSP00000340200:p.Leu90Phe		O14833|Q96QK7	Missense_Mutation	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.L90F	ENST00000344743.3	37	c.268	CCDS7970.1	11	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323293	0.41096	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.28666	1.6;1.6;1.6	5.76	3.87	0.44632	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.224693	0.38959	N	0.001504	T	0.61098	0.2320	M	0.93939	3.475	0.35420	D	0.793164	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72704	-0.4213	10	0.87932	D	0	-20.2372	7.7003	0.28619	0.0828:0.0:0.7557:0.1616	.	90;90	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	F	90	ENSP00000340200:L90F;ENSP00000431688:L90F;ENSP00000278400:L90F	ENSP00000278400:L90F	L	-	1	0	GLYAT	58236857	0.156000	0.22821	0.636000	0.29352	0.088000	0.18126	0.789000	0.26886	0.872000	0.35775	0.650000	0.86243	CTT	-	GLYAT	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase		0.398	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYAT	HGNC	protein_coding	OTTHUMT00000394593.1	0	0		57	57		0.00		G			58480281	-1	13		54		tier1	no_errors	ENST00000344743	ensembl	human	known	74_37	missense	19.40		SNP	0.852	A	13	54
OR1J2	26740	genome.wustl.edu	37	9	125273338	125273338	+	Silent	SNP	G	G	A	rs138188243		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:125273338G>A	ENST00000335302.5	+	1	258	c.258G>A	c.(256-258)cgG>cgA	p.R86R		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R86R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGGACATGCGGACTAAGTACA	0.423													ENSG00000197233																																					1	Substitution - coding silent(1)	skin(1)											188.0	154.0	166.0					9																	125273338		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.258G>A	9.37:g.125273338G>A			A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R86	ENST00000335302.5	37	c.258	CCDS35121.1	9																																																																																			rs138188243	OR1J2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.423	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	0	0		59	59		0.00		G			125273338	+1	26		59		tier1	no_errors	ENST00000335302	ensembl	human	known	74_37	silent	30.59		SNP	0.001	A	26	59
CALCR	799	genome.wustl.edu	37	7	93108745	93108745	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:93108745G>A	ENST00000394441.1	-	3	441	c.126C>T	c.(124-126)gtC>gtT	p.V42V	CALCR_ENST00000426151.1_Silent_p.V42V|CALCR_ENST00000360249.4_Silent_p.V42V|CALCR_ENST00000421592.1_Silent_p.V42V|CALCR_ENST00000359558.2_Silent_p.V60V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	60					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.V60V(1)|p.V42V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTCGTCCTACGACGTAAAGAA	0.408													ENSG00000004948																																					2	Substitution - coding silent(2)	endometrium(2)											219.0	204.0	209.0					7																	93108745		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.126C>T	7.37:g.93108745G>A			A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.V60	ENST00000394441.1	37	c.180	CCDS5631.1	7																																																																																			-	CALCR	-	prints_GPCR_2_calcitonin_rcpt		0.408	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	HGNC	protein_coding	OTTHUMT00000254661.2	0	0		42	42		0.00		G	NM_001742		93108745	-1	17		32		tier1	no_errors	ENST00000359558	ensembl	human	known	74_37	silent	34.69		SNP	0.000	A	17	32
CCDC136	64753	genome.wustl.edu	37	7	128450358	128450358	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:128450358G>A	ENST00000297788.4	+	12	2333	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	656						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCATTTCCAGGAAGTGTTGGA	0.433													ENSG00000128596																																					0													66.0	63.0	64.0					7																	128450358		1949	4148	6097	SO:0001583	missense	0			-		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1966G>A	7.37:g.128450358G>A	ENSP00000297788:p.Glu656Lys		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.E656K	ENST00000297788.4	37	c.1966	CCDS47704.1	7	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296874	0.60086	.	.	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T;T	0.38077	1.16;1.16	4.94	1.13	0.20643	.	0.612693	0.16076	N	0.230753	T	0.31167	0.0788	L	0.53249	1.67	0.09310	N	1	P;P	0.49559	0.827;0.925	B;B	0.44163	0.35;0.443	T	0.12041	-1.0563	10	0.33141	T	0.24	-1.7149	6.5916	0.22649	0.3889:0.0:0.6111:0.0	.	656;656	Q96JN2-2;Q96JN2	.;CC136_HUMAN	K	656;656;656;247	ENSP00000297788:E656K;ENSP00000417991:E247K	ENSP00000297788:E656K	E	+	1	0	CCDC136	128237594	0.978000	0.34361	0.848000	0.33437	0.010000	0.07245	0.761000	0.26489	0.370000	0.24538	-0.140000	0.14226	GAA	-	CCDC136	-	NULL		0.433	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	0	0		43	43		0.00		G	NM_022742		128450358	+1	14		39		tier1	no_errors	ENST00000297788	ensembl	human	known	74_37	missense	26.42		SNP	0.099	A	14	39
PCDH11Y	83259	genome.wustl.edu	37	Y	4925406	4925406	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrY:4925406C>T	ENST00000333703.4	+	4	1022	c.509C>T	c.(508-510)cCa>cTa	p.P170L	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P181L|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P181L	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	181	Cadherin 1. {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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATATCAATTCCAGAGAACTCG	0.383													ENSG00000099715																																					0													14.0	13.0	13.0					Y																	4925406		615	1912	2527	SO:0001583	missense	0			-	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.509C>T	Y.37:g.4925406C>T	ENSP00000330552:p.Pro170Leu		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P181L	ENST00000333703.4	37	c.542	CCDS14776.1	Y																																																																																			-	PCDH11Y	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.383	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH11Y	HGNC	protein_coding	OTTHUMT00000084979.2	0	0		68	68		0.00		C	NM_032973		4925406	+1	54		29		tier1	no_errors	ENST00000215473	ensembl	human	known	74_37	missense	65.06		SNP	1.000	T	54	29
OR10H1	26539	genome.wustl.edu	37	19	15918651	15918651	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15918651A>G	ENST00000334920.2	-	1	285	c.197T>C	c.(196-198)cTc>cCc	p.L66P		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GGAGACGGAGAGGGCGCACAG	0.642													ENSG00000186723																																					0													109.0	96.0	101.0					19																	15918651		2200	4291	6491	SO:0001583	missense	0			-	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.197T>C	19.37:g.15918651A>G	ENSP00000335596:p.Leu66Pro		Q6IFQ2|Q96R59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66P	ENST00000334920.2	37	c.197	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	a	16.48	3.136485	0.56936	.	.	ENSG00000186723	ENST00000334920	T	0.00591	6.35	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000617	T	0.04815	0.0130	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00675	-1.1615	10	0.87932	D	0	.	12.1357	0.53970	1.0:0.0:0.0:0.0	.	66	Q9Y4A9	O10H1_HUMAN	P	66	ENSP00000335596:L66P	ENSP00000335596:L66P	L	-	2	0	OR10H1	15779651	1.000000	0.71417	0.898000	0.35279	0.346000	0.29079	8.526000	0.90588	1.760000	0.52011	0.523000	0.50628	CTC	-	OR10H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	0	0		61	61		0.00		A			15918651	-1	21		51		tier1	no_errors	ENST00000334920	ensembl	human	known	74_37	missense	28.77		SNP	0.992	G	21	51
PRRC2B	84726	genome.wustl.edu	37	9	134346221	134346221	+	Missense_Mutation	SNP	C	C	T	rs149752367		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:134346221C>T	ENST00000357304.4	+	13	2013	c.1958C>T	c.(1957-1959)cCg>cTg	p.P653L	PRRC2B_ENST00000458550.1_Missense_Mutation_p.P653L|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P653L	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	653							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TACCCCCCGCCGTCCCACCCC	0.612													ENSG00000130723	C|||	1	0.000199681	0.0008	0.0	5008	,	,		15286	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/PRO	1,4159		0,1,2079	31.0	35.0	34.0		1958	5.9	0.4	9	dbSNP_134	34	0,8396		0,0,4198	no	missense	PRRC2B	NM_013318.3	98	0,1,6277	TT,TC,CC		0.0,0.024,0.0080	probably-damaging	653/2230	134346221	1,12555	2080	4198	6278	SO:0001583	missense	0			GMAF=0.0005	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1958C>T	9.37:g.134346221C>T	ENSP00000349856:p.Pro653Leu		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.P653L	ENST00000357304.4	37	c.1958	CCDS48044.1	9	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.85	3.712355	0.68730	2.4E-4	0.0	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.16897	2.31;2.31;2.31	5.91	5.91	0.95273	.	0.000000	0.41605	U	0.000860	T	0.34832	0.0911	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	P	0.54372	0.75	T	0.04991	-1.0913	10	0.72032	D	0.01	-0.9002	14.1587	0.65432	0.1496:0.8504:0.0:0.0	.	653	Q5JSZ5	PRC2B_HUMAN	L	653	ENSP00000384606:P653L;ENSP00000349856:P653L;ENSP00000398853:P653L	ENSP00000349856:P653L	P	+	2	0	PRRC2B	133336042	0.997000	0.39634	0.368000	0.25939	0.325000	0.28411	2.895000	0.48648	2.813000	0.96785	0.655000	0.94253	CCG	rs149752367	PRRC2B	-	NULL		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		0	0		54	54		0.00		C			134346221	+1	18		67		tier1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	21.18		SNP	0.983	T	18	67
MYO15A	51168	genome.wustl.edu	37	17	18054156	18054156	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:18054156G>A	ENST00000205890.5	+	38	7740	c.7402G>A	c.(7402-7404)Gag>Aag	p.E2468K	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2468	Tail.			E -> G (in Ref. 2; AAF05903). {ECO:0000305}.	inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAGGCCCGGGAGATGACCCT	0.677													ENSG00000091536																																					0													23.0	30.0	28.0					17																	18054156		2037	4170	6207	SO:0001583	missense	0			-	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7402G>A	17.37:g.18054156G>A	ENSP00000205890:p.Glu2468Lys		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E2468K	ENST00000205890.5	37	c.7402	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726434	0.69074	.	.	ENSG00000091536	ENST00000205890	D	0.87650	-2.28	4.01	4.01	0.46588	.	.	.	.	.	T	0.81470	0.4829	L	0.51422	1.61	0.80722	D	1	P	0.47762	0.9	B	0.38880	0.284	T	0.81448	-0.0928	9	0.41790	T	0.15	.	10.6975	0.45907	0.0:0.3245:0.6755:0.0	.	2468	Q9UKN7	MYO15_HUMAN	K	2468	ENSP00000205890:E2468K	ENSP00000205890:E2468K	E	+	1	0	MYO15A	17994881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.806000	0.47947	2.248000	0.74166	0.650000	0.86243	GAG	-	MYO15A	-	NULL		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	0	0		83	83		0.00		G	NM_016239		18054156	+1	13		100		tier1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	11.50		SNP	1.000	A	13	100
PSMB5	5693	genome.wustl.edu	37	14	23496971	23496971	+	Intron	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23496971C>A	ENST00000361611.6	-	3	769				PSMB5_ENST00000493471.2_Missense_Mutation_p.R191S|PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5						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)|response to oxidative stress (GO:0006979)|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)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TGTTGCCGATCCTCTCAGCAC	0.373													ENSG00000100804																																					0													148.0	119.0	128.0					14																	23496971		692	1591	2283	SO:0001627	intron_variant	0			-	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.506-1387G>T	14.37:g.23496971C>A			B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.R191S	ENST00000361611.6	37	c.573	CCDS9584.1	14	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567156	0.28003	.	.	ENSG00000100804	ENST00000493471	T	0.19105	2.17	2.58	0.688	0.18027	.	.	.	.	.	T	0.14485	0.0350	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.19391	0.025	T	0.29150	-1.0021	8	0.62326	D	0.03	.	4.3639	0.11215	0.0:0.6468:0.0:0.3532	.	191	P28074-2	.	S	191	ENSP00000452424:R191S	ENSP00000334973:R191S	R	-	3	2	PSMB5	22566811	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	0.442000	0.21628	0.169000	0.19679	-0.244000	0.11960	AGG	-	PSMB5	-	NULL		0.373	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB5	HGNC	protein_coding	OTTHUMT00000071695.4	0	0		54	54		0.00		C	NM_002797		23496971	-1	5		55		tier1	no_errors	ENST00000493471	ensembl	human	known	74_37	missense	8.33		SNP	0.001	A	5	55
OR6F1	343169	genome.wustl.edu	37	1	247875341	247875341	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247875341G>A	ENST00000302084.2	-	1	764	c.717C>T	c.(715-717)tcC>tcT	p.S239S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGAGCACGTGGAGAAGGCTT	0.517													ENSG00000169214																																					0													117.0	106.0	110.0					1																	247875341		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.717C>T	1.37:g.247875341G>A			B2RNV6|Q6IF02|Q96R39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239	ENST00000302084.2	37	c.717	CCDS31095.1	1																																																																																			-	OR6F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.517	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	0	0		76	76		0.00		G	NM_001005286		247875341	-1	26		115		tier1	no_errors	ENST00000302084	ensembl	human	known	74_37	silent	18.31		SNP	0.997	A	26	115
SLC45A2	51151	genome.wustl.edu	37	5	33982499	33982499	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:33982499C>T	ENST00000296589.4	-	2	550	c.404G>A	c.(403-405)aGg>aAg	p.R135K	SLC45A2_ENST00000345083.5_Missense_Mutation_p.R135K|SLC45A2_ENST00000509381.1_Missense_Mutation_p.R135K|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000382102.3_Missense_Mutation_p.R135K	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	135					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CAGCTTCCTCCTTGGGTTAGC	0.408													ENSG00000164175																									Ovarian(31;380 859 8490 22203 49048)												0													80.0	76.0	77.0					5																	33982499		2203	4300	6503	SO:0001583	missense	0			-	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.404G>A	5.37:g.33982499C>T	ENSP00000296589:p.Arg135Lys		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R135K	ENST00000296589.4	37	c.404	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	C	3.471	-0.107943	0.06924	.	.	ENSG00000164175	ENST00000296589;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.33	1.49	0.22878	Major facilitator superfamily domain, general substrate transporter (1);	1.178640	0.05574	N	0.571552	D	0.85805	0.5782	L	0.43152	1.355	0.09310	N	1	B;B;B	0.14012	0.009;0.0;0.0	B;B;B	0.15484	0.013;0.002;0.008	T	0.68522	-0.5386	10	0.06365	T	0.9	-18.7984	4.831	0.13439	0.0:0.3728:0.1552:0.472	.	135;135;135	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	K	135	ENSP00000296589:R135K;ENSP00000371534:R135K;ENSP00000421100:R135K;ENSP00000340444:R135K	ENSP00000296589:R135K	R	-	2	0	SLC45A2	34018256	0.007000	0.16637	0.868000	0.34077	0.998000	0.95712	0.230000	0.17852	0.327000	0.23409	0.643000	0.83706	AGG	-	SLC45A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.408	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	0	0		17	17		0.00		C	NM_016180		33982499	-1	11		13		tier1	no_errors	ENST00000296589	ensembl	human	known	74_37	missense	45.83		SNP	0.019	T	11	13
MEGF10	84466	genome.wustl.edu	37	5	126780994	126780994	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:126780994G>A	ENST00000274473.6	+	21	2758				MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Intron	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGACAATGAGGAATGTTTGCT	0.438													ENSG00000145794																																					0																																										SO:0001627	intron_variant	0			-	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2492-155G>A	5.37:g.126780994G>A			Q68DE5|Q8WUL3	R	SNP	-	NULL	ENST00000274473.6	37	NULL	CCDS4142.1	5																																																																																			-	MEGF10	-	-		0.438	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	0	0		49	49		0.00		G	NM_032446		126780994	+1	23		26		tier1	no_errors	ENST00000510828	ensembl	human	known	74_37	rna	46.94		SNP	0.011	A	23	26
MRPL12	6182	genome.wustl.edu	37	17	79671381	79671381	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79671381C>T	ENST00000333676.3	+	2	327	c.182C>T	c.(181-183)cCc>cTc	p.P61L	SLC25A10_ENST00000571730.1_Missense_Mutation_p.P61L|SLC25A10_ENST00000541223.1_Missense_Mutation_p.P61L|RP13-1032I1.7_ENST00000575312.1_RNA	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	61					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AAGGAGTACCCCCCCAAGATA	0.597													ENSG00000183048																																					0													70.0	62.0	65.0					17																	79671381		2203	4300	6503	SO:0001583	missense	0			-	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.182C>T	17.37:g.79671381C>T	ENSP00000333837:p.Pro61Leu		Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.P61L	ENST00000333676.3	37	c.182	CCDS11785.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.107388	0.94292	.	.	ENSG00000183048	ENST00000541223;ENST00000333676;ENST00000332396	T;T	0.80304	-1.36;0.92	4.89	3.77	0.43336	.	0.179524	0.51477	N	0.000097	D	0.86883	0.6040	M	0.71581	2.175	0.80722	D	1	B;D	0.76494	0.024;0.999	B;D	0.67725	0.007;0.953	D	0.87094	0.2174	10	0.66056	D	0.02	-1.2422	10.998	0.47589	0.0:0.8894:0.0:0.1106	.	61;61	B4DLN1;P52815	.;RM12_HUMAN	L	61	ENSP00000439565:P61L;ENSP00000333837:P61L	ENSP00000330017:P61L	P	+	2	0	SLC25A10	77281786	0.998000	0.40836	0.993000	0.49108	0.955000	0.61496	7.037000	0.76531	1.045000	0.40225	0.655000	0.94253	CCC	-	SLC25A10	-	NULL		0.597	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A10	HGNC	protein_coding	OTTHUMT00000440812.1	0	0		33	33		0.00		C	NM_002949		79671381	+1	20		45		tier1	no_errors	ENST00000541223	ensembl	human	known	74_37	missense	30.77		SNP	1.000	T	20	45
FAM229B	619208	genome.wustl.edu	37	6	112421880	112421880	+	Missense_Mutation	SNP	C	C	T	rs61746601		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:112421880C>T	ENST00000368656.2	+	4	430	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	FAM229B_ENST00000604268.1_Missense_Mutation_p.R45W	NM_001033564.1	NP_001028736.1	Q4G0N7	F229B_HUMAN	family with sequence similarity 229, member B	45																	CAGGCAACTCCGGAGGTGCCC	0.393													ENSG00000203778	C|||	1	0.000199681	0.0008	0.0	5008	,	,		21334	0.0		0.0	False		,,,				2504	0.0																0													90.0	82.0	85.0					6																	112421880		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005		CCDS34513.1	6q21	2012-12-12	2012-12-12	2012-12-12	ENSG00000203778	ENSG00000203778			33858	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 225"""	C6orf225			Standard	NM_001033564		Approved	DKFZp586F0922, LOC619208	uc003pvs.3	Q4G0N7	OTTHUMG00000015383	ENST00000368656.2:c.133C>T	6.37:g.112421880C>T	ENSP00000357645:p.Arg45Trp		B8ZZ33	Missense_Mutation	SNP	NULL	p.R45W	ENST00000368656.2	37	c.133	CCDS34513.1	6	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.900953	0.52227	.	.	ENSG00000203778	ENST00000368656	.	.	.	5.2	5.2	0.72013	.	0.182918	0.26840	N	0.022235	T	0.75213	0.3819	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77346	-0.2622	8	0.87932	D	0	-9.7748	14.4183	0.67165	0.0:1.0:0.0:0.0	rs61746601	45	Q4G0N7	CF225_HUMAN	W	45	.	ENSP00000357645:R45W	R	+	1	2	C6orf225	112528573	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.208000	0.51114	2.850000	0.98022	0.650000	0.86243	CGG	rs61746601	FAM229B	-	NULL		0.393	FAM229B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM229B	HGNC	protein_coding	OTTHUMT00000041870.2	0	0		59	59		0.00		C	NM_001033564		112421880	+1	6		39		tier1	no_errors	ENST00000368656	ensembl	human	known	74_37	missense	13.33		SNP	1.000	T	6	39
TMEM235	283999	genome.wustl.edu	37	17	76235311	76235311	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:76235311C>T	ENST00000551068.3	+	4	737	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	TMEM235_ENST00000421688.1_Missense_Mutation_p.P316L|TMEM235_ENST00000586400.1_Missense_Mutation_p.P133S|TMEM235_ENST00000550981.3_Missense_Mutation_p.P179S|TMEM235_ENST00000374946.3_Missense_Mutation_p.P179S			A6NFC5	TM235_HUMAN	transmembrane protein 235	206						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			lung(1)	1						CAGCCTGAGCCCCCCAATCTG	0.662													ENSG00000204278																																					0													15.0	21.0	19.0					17																	76235311		692	1591	2283	SO:0001583	missense	0			-	BC042066	CCDS56048.1, CCDS56046.1, CCDS56047.1	17q25.3	2011-02-18	2011-02-18	2011-02-18	ENSG00000204278	ENSG00000204278			27563	protein-coding gene	gene with protein product							Standard	NM_001204210		Approved		uc002jvk.3	A6NFC5		ENST00000551068.3:c.616C>T	17.37:g.76235311C>T	ENSP00000446514:p.Pro206Ser		C9JRE6	Missense_Mutation	SNP	NULL	p.P316L	ENST00000551068.3	37	c.947	CCDS56046.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.238|9.238	1.037655|1.037655	0.19669|0.19669	.|.	.|.	ENSG00000204278|ENSG00000204278	ENST00000421688;ENST00000547406|ENST00000543327;ENST00000374946;ENST00000551068;ENST00000550981	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	2.51|2.51	-0.971|-0.971	0.10303|0.10303	.|.	1.487850|1.487850	0.04065|0.04065	U|U	0.307137|0.307137	T|T	0.20981|0.20981	0.0505|0.0505	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.13202|0.13202	-1.0518|-1.0518	7|8	0.87932|0.41790	D|T	0|0.15	.|.	2.3243|2.3243	0.04219|0.04219	0.1924:0.4991:0.1879:0.1205|0.1924:0.4991:0.1879:0.1205	.|.	.|.	.|.	.|.	L|S	316;237|133;179;206;179	.|ENSP00000364084:P179S;ENSP00000446514:P206S;ENSP00000447766:P179S	ENSP00000402790:P316L|ENSP00000364084:P179S	P|P	+|+	2|1	0|0	TMEM235|TMEM235	73746906|73746906	0.492000|0.492000	0.26027|0.26027	0.000000|0.000000	0.03702|0.03702	0.039000|0.039000	0.13416|0.13416	0.287000|0.287000	0.18920|0.18920	-0.150000|-0.150000	0.11195|0.11195	0.462000|0.462000	0.41574|0.41574	CCC|CCC	-	TMEM235	-	NULL		0.662	TMEM235-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM235	HGNC	protein_coding	OTTHUMT00000408606.1	0	0		54	54		0.00		C	NM_001204211		76235311	+1	24		54		tier1	no_errors	ENST00000421688	ensembl	human	known	74_37	missense	30.77		SNP	0.000	T	24	54
CNBD2	140894	genome.wustl.edu	37	20	34596373	34596373	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34596373C>T	ENST00000373973.3	+	9	1298	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	CNBD2_ENST00000538900.1_Silent_p.P375P|CNBD2_ENST00000349339.1_Silent_p.P375P			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	375			P -> S (in dbSNP:rs6060750). {ECO:0000269|PubMed:14702039}.														ACACTCTCCCCAAGATGCTGG	0.502													ENSG00000149646																																					0													52.0	52.0	52.0					20																	34596373		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1125C>T	20.37:g.34596373C>T			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P375	ENST00000373973.3	37	c.1125		20																																																																																			-	CNBD2	-	superfamily_cNMP-bd-like		0.502	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	0	0		32	32		0.00		C	NM_080834		34596373	+1	16		51		tier1	no_errors	ENST00000373973	ensembl	human	known	74_37	silent	23.53		SNP	0.926	T	16	51
TNFAIP1	7126	genome.wustl.edu	37	17	26675195	26675195	+	IGR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:26675195G>A	ENST00000226225.2	+	0	3627				POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Missense_Mutation_p.S351F	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)						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)		GCTTTCCAGGGAGAAGGGAGG	0.547													ENSG00000004142																																					0													100.0	102.0	101.0					17																	26675195		1882	4116	5998	SO:0001628	intergenic_variant	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		17.37:g.26675195G>A			B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_Hemimethylated_D-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_D-bd_dom,pfscan_ApaG_domain	p.S351F	ENST00000226225.2	37	c.1052	CCDS11227.1	17																																																																																			-	POLDIP2	-	superfamily_ApaG_domain,pfscan_ApaG_domain		0.547	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLDIP2	HGNC	protein_coding	OTTHUMT00000255681.2	0	0		47	47		0.00		G	NM_021137		26675195	-1	18		38		tier1	no_errors	ENST00000540200	ensembl	human	known	74_37	missense	32.14		SNP	1.000	A	18	38
COL11A2	1302	genome.wustl.edu	37	6	33136330	33136330	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33136330C>T	ENST00000374708.4	-	52	3926	c.3668G>A	c.(3667-3669)gGg>gAg	p.G1223E	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1283E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1228E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1202E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1288E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1249E|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1309E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1262E	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1309	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCATTCTCCCCGGTGGGACC	0.632													ENSG00000204248																									Melanoma(1;90 116 3946 5341 17093)												0													46.0	43.0	44.0					6																	33136330		1511	2709	4220	SO:0001583	missense	0			-	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3668G>A	6.37:g.33136330C>T	ENSP00000363840:p.Gly1223Glu		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1309E	ENST00000374708.4	37	c.3926	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490178	0.64074	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99429	-5.89;-3.23;-3.23;-3.23;-5.89;-5.89;-5.89;-5.89	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97332	0.9951	10	0.87932	D	0	.	14.2085	0.65750	0.0:1.0:0.0:0.0	.	1202;1223;1309	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	E	1223;1309;1288;1283;1262;1249;1228;1202	ENSP00000363840:G1223E;ENSP00000339915:G1309E;ENSP00000350079:G1288E;ENSP00000363846:G1283E;ENSP00000363845:G1262E;ENSP00000378623:G1249E;ENSP00000363844:G1228E;ENSP00000355123:G1202E	ENSP00000339915:G1309E	G	-	2	0	COL11A2	33244308	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.541000	0.67212	2.205000	0.71048	0.551000	0.68910	GGG	-	COL11A2	-	NULL		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	0	0		43	43		0.00		C			33136330	-1	14		25		tier1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	35.90		SNP	1.000	T	14	25
FCHSD2	9873	genome.wustl.edu	37	11	72553810	72553810	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:72553810G>A	ENST00000409418.4	-	17	2165	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	FCHSD2_ENST00000409263.1_Intron|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000311172.7_Silent_p.I538I|FCHSD2_ENST00000409314.1_Silent_p.I618I|FCHSD2_ENST00000458644.2_Silent_p.I458I	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	594	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCAAGATACGGATTATTGCTC	0.408													ENSG00000137478																																					0													124.0	123.0	123.0					11																	72553810		2200	4293	6493	SO:0001819	synonymous_variant	0			-	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1782C>T	11.37:g.72553810G>A			B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.I594	ENST00000409418.4	37	c.1782	CCDS8218.2	11																																																																																			-	FCHSD2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.408	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	0	0		94	94		0.00		G	NM_014824		72553810	-1	28		79		tier1	no_errors	ENST00000409418	ensembl	human	known	74_37	silent	25.93		SNP	0.997	A	28	79
FAM47E	100129583	genome.wustl.edu	37	4	77177483	77177483	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:77177483C>T	ENST00000424749.2	+	2	233	c.227C>T	c.(226-228)cCc>cTc	p.P76L	FAM47E_ENST00000339906.6_Intron|FAM47E_ENST00000515604.1_Missense_Mutation_p.P76L|FAM47E_ENST00000515589.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000510197.1_Intron	NM_001136570.2	NP_001130042.1	Q6ZV65	FA47E_HUMAN	family with sequence similarity 47, member E	76																	GGCTTTCTGCCCCAGATTTAT	0.582													ENSG00000189157																																					0													37.0	41.0	40.0					4																	77177483		692	1591	2283	SO:0001583	missense	0			-	AC034139, AK124936, CR591456, CR627383	CCDS47081.1, CCDS58907.1	4q21.1	2013-04-23			ENSG00000189157	ENSG00000189157			34343	protein-coding gene	gene with protein product	"""similar to genethonin 1"""						Standard	NM_001136570		Approved	FLJ42946, LOC100129583	uc003hjx.3	Q6ZV65	OTTHUMG00000185390	ENST00000424749.2:c.227C>T	4.37:g.77177483C>T	ENSP00000409423:p.Pro76Leu		D6R8Y4	Missense_Mutation	SNP	superfamily_eIF4G1_eIF4E-bd	p.P76L	ENST00000424749.2	37	c.227	CCDS47081.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128517	0.77549	.	.	ENSG00000189157	ENST00000515604;ENST00000424749	T;T	0.22743	1.94;1.94	5.41	5.41	0.78517	.	.	.	.	.	T	0.43500	0.1250	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.29549	-1.0008	9	0.72032	D	0.01	-0.2644	13.5848	0.61924	0.1561:0.8439:0.0:0.0	.	76;76	Q6ZV65-1;Q6ZV65	.;FA47E_HUMAN	L	76	ENSP00000422067:P76L;ENSP00000409423:P76L	ENSP00000409423:P76L	P	+	2	0	FAM47E	77396507	0.303000	0.24463	0.193000	0.23327	0.141000	0.21300	2.586000	0.46119	2.530000	0.85305	0.591000	0.81541	CCC	-	FAM47E	-	NULL		0.582	FAM47E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM47E	HGNC	protein_coding	OTTHUMT00000362528.2	0	0		70	70		0.00		C	NM_001136570		77177483	+1	33		47		tier1	no_errors	ENST00000424749	ensembl	human	known	74_37	missense	41.25		SNP	0.733	T	33	47
ADAM9	8754	genome.wustl.edu	37	8	38940563	38940563	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:38940563G>A	ENST00000487273.2	+	18	2117	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	680	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GGATACGGAGGAAGTGTGGAC	0.418													ENSG00000168615																																					0													96.0	85.0	89.0					8																	38940563		2203	4300	6503	SO:0001583	missense	0			-	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2039G>A	8.37:g.38940563G>A	ENSP00000419446:p.Gly680Glu		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.G680E	ENST00000487273.2	37	c.2039	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.224823	0.95173	.	.	ENSG00000168615	ENST00000487273	D	0.99051	-5.37	5.91	5.91	0.95273	.	0.048078	0.85682	D	0.000000	D	0.99435	0.9800	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99004	1.0812	10	0.87932	D	0	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	680	Q13443	ADAM9_HUMAN	E	680	ENSP00000419446:G680E	ENSP00000418437:G680E	G	+	2	0	ADAM9	39059720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.291000	0.96070	2.803000	0.96430	0.650000	0.86243	GGA	-	ADAM9	-	NULL		0.418	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	0	0		60	60		0.00		G			38940563	+1	15		62		tier1	no_errors	ENST00000487273	ensembl	human	known	74_37	missense	19.48		SNP	1.000	A	15	62
ARHGAP29	9411	genome.wustl.edu	37	1	94650616	94650616	+	Splice_Site	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:94650616A>C	ENST00000260526.6	-	18	2103	c.1921T>G	c.(1921-1923)Tgt>Ggt	p.C641G	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	641					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ACAAGGAGACACTACAAGAAA	0.353													ENSG00000137962																																					0													39.0	40.0	39.0					1																	94650616		2201	4299	6500	SO:0001630	splice_region_variant	0			-		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1921-1T>G	1.37:g.94650616A>C			O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.C641G	ENST00000260526.6	37	c.1921	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079568	0.76528	.	.	ENSG00000137962	ENST00000260526	D	0.99876	-7.41	5.39	5.39	0.77823	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.39687	N	0.001298	D	0.99843	0.9928	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96349	0.9257	10	0.72032	D	0.01	-14.2326	15.4205	0.75006	1.0:0.0:0.0:0.0	.	641;641	F8VWZ8;Q52LW3	.;RHG29_HUMAN	G	641	ENSP00000260526:C641G	ENSP00000260526:C641G	C	-	1	0	ARHGAP29	94423204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.361000	0.90098	2.032000	0.59987	0.455000	0.32223	TGT	-	ARHGAP29	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.353	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	0	0		54	54		0.00		A	NM_004815	Missense_Mutation	94650616	-1	15		30		tier1	no_errors	ENST00000260526	ensembl	human	known	74_37	missense	33.33		SNP	1.000	C	15	30
CD163L1	283316	genome.wustl.edu	37	12	7550929	7550929	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7550929C>T	ENST00000313599.3	-	7	1717	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D554N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D564N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	554	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTCACAGTCCCAGATATTT	0.398													ENSG00000177675																																					0													193.0	180.0	185.0					12																	7550929		2203	4300	6503	SO:0001583	missense	0			-	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1660G>A	12.37:g.7550929C>T	ENSP00000315945:p.Asp554Asn		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.D554N	ENST00000313599.3	37	c.1660	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.560932	0.00910	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	2.77	-5.53	0.02552	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.455403	0.16984	U	0.191561	T	0.17066	0.0410	N	0.20986	0.625	0.19575	N	0.999966	B;B	0.28933	0.228;0.17	B;B	0.34489	0.048;0.184	T	0.19582	-1.0301	10	0.23302	T	0.38	.	2.6891	0.05116	0.1464:0.4538:0.148:0.2517	.	564;554	E7EVK4;Q9NR16	.;C163B_HUMAN	N	554;564;554	ENSP00000315945:D554N;ENSP00000393474:D564N;ENSP00000379871:D554N	ENSP00000315945:D554N	D	-	1	0	CD163L1	7442196	0.000000	0.05858	0.095000	0.20976	0.040000	0.13550	-2.546000	0.00932	-2.055000	0.00899	-0.384000	0.06662	GAC	-	CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.398	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	0	0		53	53		0.00		C	NM_174941		7550929	-1	15		42		tier1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	26.32		SNP	0.303	T	15	42
CTDP1	9150	genome.wustl.edu	37	18	77474693	77474693	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:77474693G>A	ENST00000299543.7	+	8	1380	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q	CTDP1_ENST00000075430.7_Silent_p.Q411Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	411					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCCCTGCCCAGGCCCCCACCA	0.741													ENSG00000060069																																					0													7.0	11.0	10.0					18																	77474693		2154	4215	6369	SO:0001819	synonymous_variant	0			-	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1233G>A	18.37:g.77474693G>A			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.Q411	ENST00000299543.7	37	c.1233	CCDS12017.1	18																																																																																			-	CTDP1	-	NULL		0.741	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	0	0		30	30		0.00		G	NM_004715		77474693	+1	25		15		tier1	no_errors	ENST00000299543	ensembl	human	known	74_37	silent	62.50		SNP	0.000	A	25	15
COL6A6	131873	genome.wustl.edu	37	3	130287341	130287341	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:130287341T>G	ENST00000358511.6	+	5	2325	c.2294T>G	c.(2293-2295)cTt>cGt	p.L765R	COL6A6_ENST00000453409.2_Missense_Mutation_p.L765R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	765	Nonhelical region.|VWFA 4. {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						GTCACCCAGCTTGAGGAGATC	0.463													ENSG00000206384																																					0													111.0	113.0	112.0					3																	130287341		1918	4123	6041	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.2294T>G	3.37:g.130287341T>G	ENSP00000351310:p.Leu765Arg		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L765R	ENST00000358511.6	37	c.2294	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371352	0.82573	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.86230	-2.09;-2.09	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.000000	0.47093	D	0.000246	D	0.96116	0.8734	H	0.98111	4.15	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	D	0.97712	1.0191	10	0.87932	D	0	.	15.455	0.75305	0.0:0.0:0.0:1.0	.	765	A6NMZ7	CO6A6_HUMAN	R	765	ENSP00000351310:L765R;ENSP00000399236:L765R	ENSP00000351310:L765R	L	+	2	0	COL6A6	131770031	1.000000	0.71417	0.919000	0.36401	0.955000	0.61496	5.966000	0.70395	2.125000	0.65367	0.533000	0.62120	CTT	-	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	0	0		39	39		0.00		T	NM_001102608		130287341	+1	29		43		tier1	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	40.28		SNP	0.999	G	29	43
GAA	2548	genome.wustl.edu	37	17	78081460	78081460	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:78081460C>T	ENST00000302262.3	+	4	1016	c.797C>T	c.(796-798)cCc>cTc	p.P266L	GAA_ENST00000390015.3_Missense_Mutation_p.P266L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	266			P -> S (in GSD2). {ECO:0000269|PubMed:20080426}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CACCTCAGTCCCCTGATGCTC	0.672													ENSG00000171298																																					0													68.0	65.0	66.0					17																	78081460		2203	4300	6503	SO:0001583	missense	0			-		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.797C>T	17.37:g.78081460C>T	ENSP00000305692:p.Pro266Leu		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.P266L	ENST00000302262.3	37	c.797	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458738	0.43634	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.86432	-2.12;-2.12	5.08	5.08	0.68730	Glycoside hydrolase-type carbohydrate-binding (1);	0.368895	0.31636	N	0.007304	D	0.85902	0.5805	L	0.59967	1.855	0.50467	D	0.999876	B	0.31256	0.316	B	0.33620	0.167	D	0.84595	0.0669	10	0.39692	T	0.17	-23.857	16.6483	0.85182	0.0:1.0:0.0:0.0	.	266	P10253	LYAG_HUMAN	L	266	ENSP00000305692:P266L;ENSP00000374665:P266L	ENSP00000305692:P266L	P	+	2	0	GAA	75696055	0.010000	0.17322	0.930000	0.37139	0.417000	0.31264	1.934000	0.40163	2.367000	0.80283	0.655000	0.94253	CCC	-	GAA	-	superfamily_Gal_mutarotase_SF_dom		0.672	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	0	0		31	31		0.00		C			78081460	+1	10		23		tier1	no_errors	ENST00000302262	ensembl	human	known	74_37	missense	29.41		SNP	0.996	T	10	23
C19orf44	84167	genome.wustl.edu	37	19	16631200	16631200	+	3'UTR	SNP	G	G	A	rs201289066		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:16631200G>A	ENST00000221671.3	+	0	2466				CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.R774C|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R785C	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAGTAGGAACGGGAGCAGGAG	0.617													ENSG00000085872																																					0													131.0	144.0	140.0					19																	16631200		2089	4197	6286	SO:0001624	3_prime_UTR_variant	0			-	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.*336G>A	19.37:g.16631200G>A			Q8N6Y7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,pfam_R_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.R774C	ENST00000221671.3	37	c.2320	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653381	0.47362	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.30182	1.54;1.54	4.67	3.64	0.41730	.	.	.	.	.	T	0.26376	0.0644	L	0.53249	1.67	0.54753	D	0.999986	D	0.63880	0.993	B	0.41135	0.348	T	0.05683	-1.0870	9	0.72032	D	0.01	-17.8865	6.8318	0.23915	0.0904:0.0:0.7354:0.1742	.	774	Q8IWX8	CHERP_HUMAN	C	774;785	ENSP00000439856:R774C;ENSP00000198939:R785C	ENSP00000198939:R785C	R	-	1	0	CHERP	16492200	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	5.901000	0.69861	0.953000	0.37825	0.561000	0.74099	CGT	rs201289066	CHERP	-	NULL		0.617	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000461218.1	0	0		46	46		0.00		G	NM_032207		16631200	-1	38		53		tier1	no_errors	ENST00000546361	ensembl	human	known	74_37	missense	41.30		SNP	0.967	A	38	53
SAGE1	55511	genome.wustl.edu	37	X	134990644	134990644	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:134990644G>A	ENST00000370709.3	+	11	1309	c.1309G>A	c.(1309-1311)Gtc>Atc	p.V437I	SAGE1_ENST00000535938.1_Missense_Mutation_p.V437I|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.V437I			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	437						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGATGCTACCGTCAATCACCA	0.423													ENSG00000181433																																					0													150.0	132.0	138.0					X																	134990644		2203	4299	6502	SO:0001583	missense	0			-	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1309G>A	X.37:g.134990644G>A	ENSP00000359743:p.Val437Ile		Q5JNW0	Missense_Mutation	SNP	NULL	p.V437I	ENST00000370709.3	37	c.1309	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	G	2.724	-0.266008	0.05754	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.31769	1.48;1.48;1.48	1.6	0.692	0.18050	.	0.252635	0.33110	U	0.005262	T	0.07728	0.0194	N	0.04880	-0.145	0.09310	N	1	B	0.34214	0.442	B	0.20955	0.032	T	0.33394	-0.9870	10	0.05351	T	0.99	.	3.6238	0.08105	0.2646:0.0:0.7354:0.0	.	437	Q9NXZ1	SAGE1_HUMAN	I	437	ENSP00000323191:V437I;ENSP00000445959:V437I;ENSP00000359743:V437I	ENSP00000323191:V437I	V	+	1	0	SAGE1	134818310	0.011000	0.17503	0.001000	0.08648	0.005000	0.04900	0.961000	0.29267	0.155000	0.19261	0.263000	0.19301	GTC	-	SAGE1	-	NULL		0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	0	0		27	27		0.00		G	NM_018666		134990644	+1	13		5		tier1	no_errors	ENST00000324447	ensembl	human	known	74_37	missense	72.22		SNP	0.001	A	13	5
ATP2A3	489	genome.wustl.edu	37	17	3853882	3853882	+	Missense_Mutation	SNP	C	C	G	rs370715957		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3853882C>G	ENST00000352011.3	-	7	607	c.553G>C	c.(553-555)Gtg>Ctg	p.V185L	ATP2A3_ENST00000397035.3_Missense_Mutation_p.V185L|ATP2A3_ENST00000397043.3_Missense_Mutation_p.V185L|ATP2A3_ENST00000359983.3_Missense_Mutation_p.V185L|ATP2A3_ENST00000309890.7_Missense_Mutation_p.V185L|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.V185L			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	185					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GTCACGGACACAGATTCACCT	0.572													ENSG00000074370																									GBM(32;29 774 15719 37967)												0													109.0	101.0	103.0					17																	3853882		2203	4300	6503	SO:0001583	missense	0			-		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.553G>C	17.37:g.3853882C>G	ENSP00000301387:p.Val185Leu		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.V185L	ENST00000352011.3	37	c.553	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502224	0.44455	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	3.76	3.76	0.43208	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.076990	0.56097	D	0.000033	T	0.80607	0.4655	N	0.25426	0.745	0.58432	D	0.999998	B;B;B;B;B;B	0.13594	0.008;0.006;0.002;0.003;0.001;0.001	B;B;B;B;B;B	0.13407	0.002;0.009;0.003;0.007;0.004;0.004	T	0.76399	-0.2973	10	0.42905	T	0.14	.	9.7082	0.40229	0.0:0.897:0.0:0.103	.	185;185;185;185;185;185	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	L	185	ENSP00000380236:V185L;ENSP00000301387:V185L;ENSP00000353072:V185L;ENSP00000380234:V185L;ENSP00000312577:V185L;ENSP00000380229:V185L	ENSP00000312577:V185L	V	-	1	0	ATP2A3	3800631	0.998000	0.40836	0.996000	0.52242	0.820000	0.46376	3.871000	0.56077	2.382000	0.81193	0.563000	0.77884	GTG	-	ATP2A3	-	pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase		0.572	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	0	0		60	60		0.00		C	NM_174953		3853882	-1	31		43		tier1	no_errors	ENST00000359983	ensembl	human	known	74_37	missense	41.89		SNP	1.000	G	31	43
MPDZ	8777	genome.wustl.edu	37	9	13196121	13196121	+	Splice_Site	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:13196121A>T	ENST00000319217.7	-	13	1902	c.1655T>A	c.(1654-1656)gTg>gAg	p.V552E	MPDZ_ENST00000381022.2_Splice_Site_p.V552E|MPDZ_ENST00000546205.1_Splice_Site_p.V552E|MPDZ_ENST00000447879.1_Splice_Site_p.V552E|MPDZ_ENST00000381015.4_Splice_Site_p.V552E|MPDZ_ENST00000536827.1_Splice_Site_p.V552E|MPDZ_ENST00000541718.1_Splice_Site_p.V552E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	552					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)		CTAACCTACCACTATTTCATA	0.378													ENSG00000107186																																					0													152.0	135.0	140.0					9																	13196121		1869	4096	5965	SO:0001630	splice_region_variant	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.1656+1T>A	9.37:g.13196121A>T			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.V552E	ENST00000319217.7	37	c.1655		9	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100474	0.76983	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.48	5.48	0.80851	.	0.000000	0.40640	N	0.001044	T	0.52403	0.1732	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.54036	-0.8353	10	0.52906	T	0.07	.	14.1345	0.65279	1.0:0.0:0.0:0.0	.	552;552;552	B7ZMI4;O75970-3;O75970-2	.;.;.	E	552	ENSP00000320006:V552E;ENSP00000439807:V552E;ENSP00000370410:V552E;ENSP00000444151:V552E;ENSP00000415208:V552E;ENSP00000370403:V552E;ENSP00000446358:V552E	ENSP00000320006:V552E	V	-	2	0	MPDZ	13186121	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.760000	0.74939	2.070000	0.61991	0.460000	0.39030	GTG	-	MPDZ	-	superfamily_PDZ		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	0	0		58	58		0.00		A	NM_003829	Missense_Mutation	13196121	-1	30		30		tier1	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	50.00		SNP	1.000	T	30	30
APOB	338	genome.wustl.edu	37	2	21233941	21233941	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:21233941C>T	ENST00000233242.1	-	26	5926	c.5799G>A	c.(5797-5799)ttG>ttA	p.L1933L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1933					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCTGCTTTCAACAGGAATT	0.463													ENSG00000084674																																					0													202.0	187.0	192.0					2																	21233941		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5799G>A	2.37:g.21233941C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L1933	ENST00000233242.1	37	c.5799	CCDS1703.1	2																																																																																			-	APOB	-	NULL		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	0	0		70	70		0.00		C			21233941	-1	31		57		tier1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	35.23		SNP	0.963	T	31	57
TBKBP1	9755	genome.wustl.edu	37	17	45777023	45777023	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:45777023G>A	ENST00000361722.3	+	6	1681	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						CAACCAGTCGGAGCGAGACAT	0.577											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000198933																																					0													233.0	242.0	239.0					17																	45777023		2039	4205	6244	SO:0001583	missense	0			-	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.832G>A	17.37:g.45777023G>A	ENSP00000354777:p.Glu278Lys	934		Missense_Mutation	SNP	NULL	p.E278K	ENST00000361722.3	37	c.832	CCDS45722.1	17	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506254	0.85282	.	.	ENSG00000198933	ENST00000361722	.	.	.	5.24	5.24	0.73138	.	0.200301	0.43110	D	0.000602	T	0.28433	0.0703	N	0.08118	0	0.45378	D	0.99836	P	0.39831	0.69	B	0.36666	0.23	T	0.19582	-1.0301	9	0.52906	T	0.07	-21.3863	13.4734	0.61295	0.0:0.1573:0.8427:0.0	.	278	A7MCY6	TBKB1_HUMAN	K	278	.	ENSP00000354777:E278K	E	+	1	0	TBKBP1	43132022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.330000	0.72925	2.717000	0.92951	0.462000	0.41574	GAG	-	TBKBP1	-	NULL		0.577	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBKBP1	HGNC	protein_coding	OTTHUMT00000441363.1	0	0		68	68		0.00		G	NM_014726		45777023	+1	31		43		tier1	no_errors	ENST00000361722	ensembl	human	known	74_37	missense	41.89		SNP	1.000	A	31	43
ESCO2	157570	genome.wustl.edu	37	8	27634301	27634301	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:27634301C>T	ENST00000305188.8	+	3	714	c.476C>T	c.(475-477)tCa>tTa	p.S159L	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	159					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAGCCTGTATCAAGGAATTCT	0.363									SC Phocomelia syndrome				ENSG00000171320																																					0													50.0	49.0	50.0					8																	27634301		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	-	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.476C>T	8.37:g.27634301C>T	ENSP00000306999:p.Ser159Leu		B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.S159L	ENST00000305188.8	37	c.476	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	C	4.998	0.185264	0.09495	.	.	ENSG00000171320	ENST00000523566;ENST00000305188	T;T	0.64438	0.82;-0.1	5.93	4.14	0.48551	.	0.466924	0.22942	N	0.053771	T	0.58250	0.2109	M	0.67953	2.075	0.21499	N	0.999667	B;B	0.21606	0.058;0.012	B;B	0.23419	0.046;0.006	T	0.52815	-0.8525	10	0.44086	T	0.13	-5.3226	8.8051	0.34932	0.0:0.829:0.0:0.171	.	159;159	E5RFE4;Q56NI9	.;ESCO2_HUMAN	L	159	ENSP00000428435:S159L;ENSP00000306999:S159L	ENSP00000306999:S159L	S	+	2	0	ESCO2	27690220	0.641000	0.27251	0.013000	0.15412	0.083000	0.17756	1.109000	0.31135	0.850000	0.35239	0.591000	0.81541	TCA	-	ESCO2	-	NULL		0.363	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	HGNC	protein_coding	OTTHUMT00000376276.1	0	0		48	48		0.00		C	NM_001017420		27634301	+1	28		34		tier1	no_errors	ENST00000305188	ensembl	human	known	74_37	missense	45.16		SNP	0.019	T	28	34
FAM41C	284593	genome.wustl.edu	37	1	809511	809511	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:809511G>A	ENST00000446136.1	-	0	1182					NR_027055.1				family with sequence similarity 41, member C																		GAATAATACGGCCATCCAGGA	0.512													ENSG00000230368																																					0																																												0			-	BC047940		1p36.33	2013-01-16	2011-08-31	2011-08-31	ENSG00000230368	ENSG00000230368		"""Long non-coding RNAs"""	27635	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_027055		Approved		uc001abt.4		OTTHUMG00000002469		1.37:g.809511G>A				R	SNP	-	NULL	ENST00000446136.1	37	NULL		1																																																																																			-	FAM41C	-	-		0.512	FAM41C-001	KNOWN	basic	lincRNA	FAM41C	HGNC	lincRNA	OTTHUMT00000007021.1	0	0		95	95		0.00		G	NR_027055		809511	-1	53		65		tier1	no_errors	ENST00000446136	ensembl	human	known	74_37	rna	44.92		SNP	1.000	A	53	65
LRRIQ4	344657	genome.wustl.edu	37	3	169540355	169540355	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:169540355T>C	ENST00000340806.6	+	1	646	c.646T>C	c.(646-648)Ttc>Ctc	p.F216L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	216										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCTGCAGAAGTTCTATATGGC	0.527													ENSG00000188306																																					0													85.0	89.0	88.0					3																	169540355		1923	4128	6051	SO:0001583	missense	0			-		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.646T>C	3.37:g.169540355T>C	ENSP00000342188:p.Phe216Leu			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.F216L	ENST00000340806.6	37	c.646	CCDS46951.1	3	.	.	.	.	.	.	.	.	.	.	T	2.068	-0.413675	0.04799	.	.	ENSG00000188306	ENST00000340806	T	0.02737	4.18	5.7	-0.872	0.10638	.	0.416288	0.25514	N	0.030157	T	0.00724	0.0024	N	0.00280	-1.71	0.37656	D	0.922585	B	0.09022	0.002	B	0.12156	0.007	T	0.52049	-0.8627	10	0.02654	T	1	.	12.0245	0.53362	0.0:0.4864:0.0:0.5136	.	216	A6NIV6	LRIQ4_HUMAN	L	216	ENSP00000342188:F216L	ENSP00000342188:F216L	F	+	1	0	LRRIQ4	171023049	0.986000	0.35501	0.562000	0.28370	0.043000	0.13939	0.572000	0.23684	-0.370000	0.08016	0.379000	0.24179	TTC	-	LRRIQ4	-	smart_Leu-rich_rpt_typical-subtyp		0.527	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	0	0		48	48		0.00		T	NM_001080460		169540355	+1	19		28		tier1	no_errors	ENST00000340806	ensembl	human	known	74_37	missense	40.43		SNP	0.877	C	19	28
CACNA1S	779	genome.wustl.edu	37	1	201013474	201013474	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:201013474C>T	ENST00000362061.3	-	39	5005	c.4779G>A	c.(4777-4779)atG>atA	p.M1593I	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.M1574I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1593					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCCTCCTCCATCGCAGCCT	0.622													ENSG00000081248																																					0													85.0	70.0	75.0					1																	201013474		2203	4300	6503	SO:0001583	missense	0			-	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4779G>A	1.37:g.201013474C>T	ENSP00000355192:p.Met1593Ile		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.M1593I	ENST00000362061.3	37	c.4779	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	11.56	1.673690	0.29693	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95885	-3.84;-3.77	4.98	4.06	0.47325	.	0.903651	0.09449	N	0.800638	D	0.92179	0.7520	L	0.33189	0.99	0.38263	D	0.941932	B	0.02656	0.0	B	0.06405	0.002	D	0.85723	0.1326	10	0.39692	T	0.17	.	12.6162	0.56578	0.301:0.699:0.0:0.0	.	1593	Q13698	CAC1S_HUMAN	I	1593;1574	ENSP00000355192:M1593I;ENSP00000356307:M1574I	ENSP00000355192:M1593I	M	-	3	0	CACNA1S	199280097	0.997000	0.39634	0.997000	0.53966	0.972000	0.66771	1.696000	0.37773	1.076000	0.40961	0.555000	0.69702	ATG	-	CAC1S	-	NULL		0.622	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAC1S	HGNC	protein_coding	OTTHUMT00000087049.1	0	0		31	31		0.00		C	NM_000069		201013474	-1	9		20		tier1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	31.03		SNP	0.969	T	9	20
CAND2	23066	genome.wustl.edu	37	3	12858728	12858728	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:12858728G>A	ENST00000456430.2	+	10	2338	c.2297G>A	c.(2296-2298)gGg>gAg	p.G766E	CAND2_ENST00000295989.5_Missense_Mutation_p.G673E	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	766					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCCTGGTAGGGACCCGTCCC	0.642													ENSG00000144712																									GBM(43;676 868 1633 6395 37496)												0													35.0	39.0	38.0					3																	12858728		2041	4192	6233	SO:0001583	missense	0			-		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2297G>A	3.37:g.12858728G>A	ENSP00000387641:p.Gly766Glu		B9EGM9|E9KL24	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.G766E	ENST00000456430.2	37	c.2297	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893115	0.33442	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.49720	0.77;0.77	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.467375	0.21450	N	0.074348	T	0.45875	0.1364	N	0.19112	0.55	0.80722	D	1	B;D	0.89917	0.138;1.0	B;D	0.87578	0.065;0.998	T	0.38178	-0.9673	10	0.02654	T	1	-38.2037	10.6463	0.45621	0.0:0.0:0.8082:0.1918	.	766;673	O75155;O75155-2	CAND2_HUMAN;.	E	673;766	ENSP00000295989:G673E;ENSP00000387641:G766E	ENSP00000295989:G673E	G	+	2	0	CAND2	12833728	0.998000	0.40836	0.997000	0.53966	0.964000	0.63967	3.675000	0.54605	2.276000	0.75962	0.511000	0.50034	GGG	-	CAND2	-	superfamily_ARM-type_fold		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	0	0		23	23		0.00		G	XM_371617		12858728	+1	11		11		tier1	no_errors	ENST00000456430	ensembl	human	known	74_37	missense	50.00		SNP	0.943	A	11	11
CCDC70	83446	genome.wustl.edu	37	13	52439835	52439835	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:52439835C>T	ENST00000242819.4	+	2	617	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	107						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAAATCCTTCTGGGAAATGG	0.468													ENSG00000123171																																					0													70.0	84.0	79.0					13																	52439835		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.321C>T	13.37:g.52439835C>T			Q8N7A8|Q9H097	Silent	SNP	NULL	p.F107	ENST00000242819.4	37	c.321	CCDS9431.1	13																																																																																			-	CCDC70	-	NULL		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC70	HGNC	protein_coding	OTTHUMT00000045033.2	0	0		53	53		0.00		C	NM_031290		52439835	+1	11		31		tier1	no_errors	ENST00000242819	ensembl	human	known	74_37	silent	26.19		SNP	0.001	T	11	31
GON4L	54856	genome.wustl.edu	37	1	155736173	155736173	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155736173G>A	ENST00000368331.1	-	21	3139	c.3091C>T	c.(3091-3093)Cct>Tct	p.P1031S	GON4L_ENST00000361040.5_Missense_Mutation_p.P1031S|GON4L_ENST00000437809.1_Missense_Mutation_p.P1031S|GON4L_ENST00000271883.5_Missense_Mutation_p.P1031S|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1031					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTCGGAGGGGCTTCTGAA	0.562													ENSG00000116580																																					0													81.0	84.0	83.0					1																	155736173		2203	4300	6503	SO:0001583	missense	0			-	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3091C>T	1.37:g.155736173G>A	ENSP00000357315:p.Pro1031Ser		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.P1031S	ENST00000368331.1	37	c.3091		1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783775	0.49891	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.73	4.73	0.59995	.	0.174192	0.39909	N	0.001233	T	0.61899	0.2384	L	0.56769	1.78	0.33768	D	0.622684	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.64093	-0.6488	10	0.45353	T	0.12	.	11.0709	0.48004	0.0853:0.0:0.9147:0.0	.	1031;227;1031;1031	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	S	1031	ENSP00000396117:P1031S;ENSP00000357315:P1031S;ENSP00000271883:P1031S;ENSP00000354322:P1031S	ENSP00000271883:P1031S	P	-	1	0	GON4L	154002797	1.000000	0.71417	0.991000	0.47740	0.439000	0.31926	2.292000	0.43549	2.465000	0.83290	0.655000	0.94253	CCT	-	GON4L	-	NULL		0.562	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		0	0		87	87		0.00		G	NM_032292		155736173	-1	20		82		tier1	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	19.61		SNP	0.997	A	20	82
TMTC2	160335	genome.wustl.edu	37	12	83250830	83250830	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:83250830C>T	ENST00000321196.3	+	2	832	c.125C>T	c.(124-126)cCa>cTa	p.P42L	TMTC2_ENST00000549919.1_Missense_Mutation_p.P36L|TMTC2_ENST00000548305.1_Missense_Mutation_p.P42L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	42					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CCAGAAACTCCATGGACGCAC	0.408													ENSG00000179104																																					0													124.0	133.0	130.0					12																	83250830		2203	4300	6503	SO:0001583	missense	0			-	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.125C>T	12.37:g.83250830C>T	ENSP00000322300:p.Pro42Leu		B2RCU7|Q8N2K8	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P42L	ENST00000321196.3	37	c.125	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980615	0.92982	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.64803	0.52;-0.12;-0.03	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.89601	3.045	0.80722	D	1	D;P	0.71674	0.998;0.875	D;P	0.74674	0.984;0.729	D	0.85672	0.1295	10	0.87932	D	0	-13.3717	19.0404	0.92997	0.0:1.0:0.0:0.0	.	42;42	Q8N394;F8VSH2	TMTC2_HUMAN;.	L	42;42;36	ENSP00000322300:P42L;ENSP00000448292:P42L;ENSP00000447609:P36L	ENSP00000322300:P42L	P	+	2	0	TMTC2	81774961	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CCA	-	TMTC2	-	NULL		0.408	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	0	0		41	41		0.00		C	NM_152588		83250830	+1	25		18		tier1	no_errors	ENST00000321196	ensembl	human	known	74_37	missense	58.14		SNP	1.000	T	25	18
KIF13A	63971	genome.wustl.edu	37	6	17781058	17781058	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:17781058A>C	ENST00000259711.6	-	31	3854	c.3749T>G	c.(3748-3750)aTt>aGt	p.I1250S	KIF13A_ENST00000378843.2_Missense_Mutation_p.I1237S|KIF13A_ENST00000378814.5_Missense_Mutation_p.I1237S|KIF13A_ENST00000378816.5_Missense_Mutation_p.I1250S|KIF13A_ENST00000378826.2_Missense_Mutation_p.I1250S	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1250					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AATTAGGTAAATCCTTTCATT	0.433													ENSG00000137177																																					0													138.0	135.0	136.0					6																	17781058		1951	4153	6104	SO:0001583	missense	0			-	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3749T>G	6.37:g.17781058A>C	ENSP00000259711:p.Ile1250Ser		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1250S	ENST00000259711.6	37	c.3749	CCDS47381.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.9|29.9	5.045787|5.045787	0.93685|0.93685	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.76839	.|-1.0;1.43;-1.05;-1.01;-1.0;-1.01	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.048854	.|0.85682	.|D	.|0.000000	T|T	0.79805|0.79805	0.4509|0.4509	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999996|0.999996	.|P;P;P;P	.|0.48640	.|0.913;0.893;0.862;0.893	.|P;P;P;P	.|0.53809	.|0.617;0.568;0.735;0.568	T|T	0.82829|0.82829	-0.0264|-0.0264	5|10	.|0.87932	.|D	.|0	.|.	16.2987|16.2987	0.82793|0.82793	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1237;1250;1250;1237	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	V|S	644|1237;254;1250;1250;1237;1250;248	.|ENSP00000368091:I1237S;ENSP00000425616:I254S;ENSP00000259711:I1250S;ENSP00000368103:I1250S;ENSP00000368120:I1237S;ENSP00000368093:I1250S	.|ENSP00000259711:I1250S	F|I	-|-	1|2	0|0	KIF13A|KIF13A	17889037|17889037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.910000|8.910000	0.92685|0.92685	2.257000|2.257000	0.74773|0.74773	0.459000|0.459000	0.35465|0.35465	TTT|ATT	-	KIF13A	-	pfam_Kinesin-like		0.433	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	0	0		44	44		0.00		A			17781058	-1	11		47		tier1	no_errors	ENST00000259711	ensembl	human	known	74_37	missense	18.97		SNP	1.000	C	11	47
IFT43	112752	genome.wustl.edu	37	14	76488722	76488722	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:76488722C>T	ENST00000314067.6	+	3	234	c.200C>T	c.(199-201)tCc>tTc	p.S67F	IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000238628.6_Missense_Mutation_p.S67F|IFT43_ENST00000556742.1_Missense_Mutation_p.S67F	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	67					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAGGTGATTCCGTGAAGGCT	0.478													ENSG00000119650																																					0													145.0	144.0	144.0					14																	76488722		2203	4300	6503	SO:0001583	missense	0			-	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.200C>T	14.37:g.76488722C>T	ENSP00000324177:p.Ser67Phe		B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	NULL	p.S67F	ENST00000314067.6	37	c.200	CCDS41973.1	14	.	.	.	.	.	.	.	.	.	.	C	9.640	1.138850	0.21123	.	.	ENSG00000119650	ENST00000314067;ENST00000238628;ENST00000556742	T;T	0.48836	0.82;0.8	4.7	1.86	0.25419	.	0.488690	0.23704	N	0.045388	T	0.61615	0.2361	M	0.77616	2.38	0.19575	N	0.999969	D;B;D;B	0.69078	0.995;0.025;0.997;0.0	P;B;D;B	0.67900	0.88;0.027;0.954;0.003	T	0.52139	-0.8615	10	0.72032	D	0.01	-17.6056	5.996	0.19495	0.0:0.6776:0.1545:0.1679	.	67;67;67;67	Q96FT9;Q96FT9-3;Q96FT9-2;G3V385	IFT43_HUMAN;.;.;.	F	67	ENSP00000324177:S67F;ENSP00000238628:S67F	ENSP00000238628:S67F	S	+	2	0	IFT43	75558475	0.357000	0.24938	0.018000	0.16275	0.000000	0.00434	2.742000	0.47434	0.217000	0.20800	-0.991000	0.02546	TCC	-	IFT43	-	NULL		0.478	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT43	HGNC	protein_coding		0	0		49	49		0.00		C	NM_052873		76488722	+1	11		26		tier1	no_errors	ENST00000238628	ensembl	human	known	74_37	missense	29.73		SNP	0.212	T	11	26
OR52R1	119695	genome.wustl.edu	37	11	4824749	4824749	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:4824749G>A	ENST00000356069.2	-	1	861	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	OR52R1_ENST00000380382.1_Missense_Mutation_p.P367S|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	288						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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGAGCATGGGAGGTATCAGT	0.473													ENSG00000176937																																					0													128.0	129.0	128.0					11																	4824749		2201	4298	6499	SO:0001583	missense	0			-	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.862C>T	11.37:g.4824749G>A	ENSP00000348368:p.Pro288Ser		Q6IFI0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P367S	ENST00000356069.2	37	c.1099	CCDS31360.2	11	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576715	0.65878	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00330	8.08;8.08	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000155	T	0.00412	0.0013	M	0.64630	1.985	0.47737	D	0.999503	B	0.31459	0.324	B	0.36464	0.225	T	0.79718	-0.1686	10	0.87932	D	0	.	18.291	0.90130	0.0:0.0:1.0:0.0	.	288	Q8NGF1	O52R1_HUMAN	S	288;367	ENSP00000348368:P288S;ENSP00000369742:P367S	ENSP00000348368:P288S	P	-	1	0	OR52R1	4781325	0.995000	0.38212	1.000000	0.80357	0.716000	0.41182	2.187000	0.42602	2.902000	0.99343	0.650000	0.86243	CCC	-	OR52R1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52R1	HGNC	protein_coding	OTTHUMT00000142183.1	0	0		79	79		0.00		G	NM_001005177		4824749	-1	22		113		tier1	no_errors	ENST00000380382	ensembl	human	known	74_37	missense	16.30		SNP	1.000	A	22	113
FMO9P	116123	genome.wustl.edu	37	1	166591242	166591242	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:166591242C>T	ENST00000477875.1	+	0	877					NR_002925.2				flavin containing monooxygenase 9 pseudogene																		CCACACAGATCCCTACTTACC	0.428													ENSG00000215834																																					0																																												0			-	BC014341		1q24.1	2011-08-04			ENSG00000215834	ENSG00000215834			32210	pseudogene	pseudogene						15077013	Standard	NR_002925		Approved	RP11-45J16.2	uc010pld.2		OTTHUMG00000078309		1.37:g.166591242C>T				R	SNP	-	NULL	ENST00000477875.1	37	NULL		1																																																																																			-	FMO9P	-	-		0.428	FMO9P-002	KNOWN	basic	processed_transcript	FMO9P	HGNC	pseudogene	OTTHUMT00000081454.1	0	0		80	80		0.00		C	NR_002925		166591242	+1	53		66		tier1	no_errors	ENST00000477875	ensembl	human	known	74_37	rna	44.17		SNP	0.998	T	53	66
NBPF22P	285622	genome.wustl.edu	37	5	85583503	85583503	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:85583503G>A	ENST00000590707.1	+	0	769					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		GCTCAGCCAGGAGCTGCCAGA	0.542													ENSG00000205449																																					0																																												0			-	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85583503G>A				R	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			-	NBPF22P	-	-		0.542	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	0	0		125	125		0.00		G	XM_208333		85583503	+1	80		125		tier1	no_errors	ENST00000590707	ensembl	human	known	74_37	rna	39.02		SNP	0.002	A	80	125
SLC17A3	10786	genome.wustl.edu	37	6	25862543	25862543	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:25862543G>A	ENST00000360657.3	-	3	506	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74F|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S74F			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	74					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448													ENSG00000124564																																					0													196.0	152.0	167.0					6																	25862543		2203	4300	6503	SO:0001583	missense	0			-	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.221C>T	6.37:g.25862543G>A	ENSP00000353873:p.Ser74Phe		B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S74F	ENST00000360657.3	37	c.221	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	G	9.876	1.200207	0.22121	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.63417	0.28;-0.04;-0.04	3.81	-0.919	0.10478	.	.	.	.	.	T	0.26955	0.0660	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.24426	0.002;0.103;0.045;0.002	B;B;B;B	0.27076	0.003;0.076;0.076;0.001	T	0.31081	-0.9956	9	0.51188	T	0.08	.	0.4997	0.00578	0.2806:0.1844:0.3468:0.1882	.	74;55;74;74	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	F	74	ENSP00000380250:S74F;ENSP00000353873:S74F;ENSP00000355307:S74F	ENSP00000353873:S74F	S	-	2	0	SLC17A3	25970522	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-0.358000	0.07641	-0.205000	0.10219	0.557000	0.71058	TCC	-	SLC17A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.448	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	HGNC	protein_coding	OTTHUMT00000040070.2	0	0		52	52		0.00		G			25862543	-1	17		66		tier1	no_errors	ENST00000397060	ensembl	human	known	74_37	missense	20.48		SNP	0.000	A	17	66
PRICKLE1	144165	genome.wustl.edu	37	12	42858908	42858908	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:42858908C>T	ENST00000455697.1	-	7	1213	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E310K|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E310K|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E310K|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E310K|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	310	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TGGACGTCTTCACCAAGACTG	0.512													ENSG00000139174																																					0													109.0	107.0	108.0					12																	42858908		2203	4300	6503	SO:0001583	missense	0			-	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.928G>A	12.37:g.42858908C>T	ENSP00000401060:p.Glu310Lys		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E310K	ENST00000455697.1	37	c.928	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282416	0.80692	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.12	5.12	0.69794	Zinc finger, LIM-type (1);	0.044888	0.85682	D	0.000000	T	0.68714	0.3031	M	0.82923	2.615	0.80722	D	1	P	0.35944	0.529	B	0.36030	0.216	T	0.74253	-0.3725	10	0.59425	D	0.04	-12.8745	18.9256	0.92541	0.0:1.0:0.0:0.0	.	310	Q96MT3	PRIC1_HUMAN	K	310	ENSP00000401060:E310K;ENSP00000398947:E310K;ENSP00000448359:E310K;ENSP00000345064:E310K;ENSP00000449819:E310K	ENSP00000345064:E310K	E	-	1	0	PRICKLE1	41145175	1.000000	0.71417	0.931000	0.37212	0.841000	0.47740	6.050000	0.71063	2.531000	0.85337	0.650000	0.86243	GAA	-	PRICKLE1	-	NULL		0.512	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1	0	0		44	44		0.00		C			42858908	-1	8		40		tier1	no_errors	ENST00000345127	ensembl	human	known	74_37	missense	16.33		SNP	1.000	T	8	40
LMO2	4005	genome.wustl.edu	37	11	33902830	33902830	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:33902830G>A	ENST00000330381.2	+	1	642	c.182G>A	c.(181-183)gGa>gAa	p.G61E	LMO2_ENST00000257818.2_Intron																							TCTCGCAAAGGAAGAGCTATT	0.458													ENSG00000184566																																					0																																										SO:0001583	missense	0			-																												ENST00000330381.2:c.182G>A	11.37:g.33902830G>A	ENSP00000332722:p.Gly61Glu			Missense_Mutation	SNP	NULL	p.G61E	ENST00000330381.2	37	c.182		11	.	.	.	.	.	.	.	.	.	.	G	5.878	0.346058	0.11126	.	.	ENSG00000184566	ENST00000330381	.	.	.	4.85	2.92	0.33932	.	.	.	.	.	T	0.61299	0.2336	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62877	-0.6761	5	0.87932	D	0	.	6.1993	0.20567	0.2306:0.0:0.7694:0.0	.	.	.	.	E	61	.	ENSP00000332722:G61E	G	+	2	0	AC132216.1	33859406	1.000000	0.71417	0.906000	0.35671	0.110000	0.19582	0.824000	0.27379	1.156000	0.42514	0.563000	0.77884	GGA	-	AC132216.1	-	NULL		0.458	AC132216.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000184566	Clone_based_ensembl_gene	protein_coding		0	0		45	45		0.00		G			33902830	+1	23		26		tier1	no_errors	ENST00000330381	ensembl	human	known	74_37	missense	46.94		SNP	0.879	A	23	26
FRMPD4	9758	genome.wustl.edu	37	X	12736026	12736026	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:12736026G>A	ENST00000380682.1	+	16	3587	c.3081G>A	c.(3079-3081)agG>agA	p.R1027R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1027					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTAGCAAAAGGAAAAGCAAGC	0.517													ENSG00000169933																																					0													102.0	87.0	92.0					X																	12736026		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3081G>A	X.37:g.12736026G>A			A8K0X9|O15032	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.R1027	ENST00000380682.1	37	c.3081	CCDS35201.1	X																																																																																			-	FRMPD4	-	NULL		0.517	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	0	0		28	28		0.00		G	XM_045712		12736026	+1	11		33		tier1	no_errors	ENST00000380682	ensembl	human	known	74_37	silent	25.00		SNP	1.000	A	11	33
TMEM176A	55365	genome.wustl.edu	37	7	150500762	150500762	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150500762C>T	ENST00000484928.1	+	5	978	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	TMEM176A_ENST00000004103.3_Missense_Mutation_p.L133F|TMEM176A_ENST00000461345.1_Missense_Mutation_p.L74F|TMEM176B_ENST00000447204.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	133					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)		p.L133I(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCGCTGCCCTCAAACTTTG	0.537													ENSG00000002933																																					1	Substitution - Missense(1)	lung(1)											79.0	84.0	82.0					7																	150500762		2203	4300	6503	SO:0001583	missense	0			-	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.397C>T	7.37:g.150500762C>T	ENSP00000417626:p.Leu133Phe		D3DX00|Q9NYC7	Missense_Mutation	SNP	pfam_CD20-like	p.L133F	ENST00000484928.1	37	c.397	CCDS5909.1	7	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063530	0.36373	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27	3.56	1.21	0.21127	.	0.285245	0.31949	N	0.006814	T	0.01905	0.0060	N	0.19112	0.55	0.09310	N	1	B	0.33413	0.411	B	0.33890	0.172	T	0.45469	-0.9259	10	0.46703	T	0.11	-23.5998	3.7978	0.08746	0.6384:0.2395:0.122:0.0	.	133	Q96HP8	T176A_HUMAN	F	133;133;74;85;74	ENSP00000417626:L133F;ENSP00000004103:L133F;ENSP00000420818:L74F;ENSP00000417834:L85F;ENSP00000420081:L74F	ENSP00000004103:L133F	L	+	1	0	TMEM176A	150131695	0.031000	0.19500	0.003000	0.11579	0.004000	0.04260	-0.003000	0.12901	0.265000	0.21872	-0.410000	0.06199	CTC	-	TMEM176A	-	pfam_CD20-like		0.537	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM176A	HGNC	protein_coding	OTTHUMT00000350222.1	0	0		71	71		0.00		C	NM_018487		150500762	+1	31		60		tier1	no_errors	ENST00000004103	ensembl	human	known	74_37	missense	34.07		SNP	0.003	T	31	60
DHDDS	79947	genome.wustl.edu	37	1	26769229	26769229	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:26769229G>A	ENST00000236342.7	+	4	281	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	DHDDS_ENST00000374185.3_Missense_Mutation_p.R63Q|DHDDS_ENST00000525682.2_Missense_Mutation_p.R63Q|DHDDS_ENST00000360009.2_Missense_Mutation_p.R63Q|DHDDS_ENST00000526219.1_Missense_Mutation_p.R63Q|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000427245.2_Missense_Mutation_p.R63Q			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	63					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CAGACTCTGCGGTGGTGTTTG	0.493													ENSG00000117682																																					0													152.0	145.0	148.0					1																	26769229		2203	4300	6503	SO:0001583	missense	0			-	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.188G>A	1.37:g.26769229G>A	ENSP00000236342:p.Arg63Gln		B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	p.R63Q	ENST00000236342.7	37	c.188	CCDS282.1	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751080	0.49257	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525326;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.92	4.96	0.65561	.	0.133906	0.64402	D	0.000001	T	0.40570	0.1122	L	0.33668	1.02	0.80722	D	1	B;B;B;B	0.12630	0.003;0.006;0.001;0.001	B;B;B;B	0.09377	0.004;0.004;0.003;0.001	T	0.18777	-1.0326	10	0.20519	T	0.43	-20.2169	12.9934	0.58634	0.0835:0.0:0.9165:0.0	.	63;63;63;63	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	Q	31;63;63;63;63;63;63;63;63;63;63;63;63;63	ENSP00000399177:R63Q;ENSP00000434984:R63Q;ENSP00000236342:R63Q;ENSP00000434219:R63Q;ENSP00000363300:R63Q;ENSP00000353104:R63Q;ENSP00000436119:R63Q;ENSP00000436764:R63Q;ENSP00000434185:R63Q;ENSP00000431407:R63Q;ENSP00000433976:R63Q;ENSP00000397584:R63Q	ENSP00000236342:R63Q	R	+	2	0	DHDDS	26641816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.621000	0.74228	1.378000	0.46305	0.655000	0.94253	CGG	-	DHDDS	-	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like		0.493	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHDDS	HGNC	protein_coding	OTTHUMT00000392504.1	0	0		66	66		0.00		G	NM_024887		26769229	+1	36		60		tier1	no_errors	ENST00000360009	ensembl	human	known	74_37	missense	37.50		SNP	1.000	A	36	60
CYP4F29P	54055	genome.wustl.edu	37	21	15220676	15220676	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:15220676G>A	ENST00000428301.1	-	0	9					NR_026755.1|NR_047508.1				cytochrome P450, family 4, subfamily F, polypeptide 29, pseudogene																		ACGCCAGGGAGGGGTACCAAT	0.542													ENSG00000228314																																					0																																												0			-			21q11	2011-07-29	2011-07-29	2011-07-29	ENSG00000228314	ENSG00000228314		"""Cytochrome P450s"""	2647	pseudogene	pseudogene			"""cytochrome P450, subfamily IVF, polypeptide 3-like pseudogene"", ""chromosome 21 open reading frame 15"", ""cytochrome P450, family 4, subfamily F, polypeptide 3-like pseudogene"""	C21orf15, CYP4F3LP			Standard	NR_026755		Approved	CYP4F-se4[6:7:8]			OTTHUMG00000074229		21.37:g.15220676G>A				R	SNP	-	NULL	ENST00000428301.1	37	NULL		21																																																																																			-	CYP4F29P	-	-		0.542	CYP4F29P-003	KNOWN	basic	processed_transcript	CYP4F29P	HGNC	pseudogene	OTTHUMT00000157746.1	0	0		48	48		0.00		G	NG_000927		15220676	-1	21		36		tier1	no_errors	ENST00000428301	ensembl	human	known	74_37	rna	36.84		SNP	0.071	A	21	36
STAT4	6775	genome.wustl.edu	37	2	191919251	191919251	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:191919251C>T	ENST00000392320.2	-	14	1530	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	STAT4_ENST00000358470.4_Missense_Mutation_p.E406K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	406					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACTTCATTTCCTTTGGTTGC	0.338													ENSG00000138378																																					0													99.0	109.0	105.0					2																	191919251		2203	4300	6503	SO:0001583	missense	0			-		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1216G>A	2.37:g.191919251C>T	ENSP00000376134:p.Glu406Lys		Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.E406K	ENST00000392320.2	37	c.1216	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646731	0.87958	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.89552	-2.53;-2.53	5.15	5.15	0.70609	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	L	0.31752	0.955	0.80722	D	1	P;P;P	0.49185	0.92;0.92;0.92	B;B;B	0.40782	0.34;0.34;0.34	D	0.86937	0.2077	10	0.87932	D	0	-49.3516	16.4052	0.83662	0.0:1.0:0.0:0.0	.	315;406;406	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	K	406	ENSP00000351255:E406K;ENSP00000376134:E406K	ENSP00000351255:E406K	E	-	1	0	STAT4	191627496	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.190000	0.72057	2.394000	0.81467	0.313000	0.20887	GAA	-	STAT4	-	pfam_STAT_TF_D-bd,superfamily_p53-like_TF_D-bd		0.338	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	0	0		94	94		0.00		C	NM_003151		191919251	-1	20		80		tier1	no_errors	ENST00000358470	ensembl	human	known	74_37	missense	19.80		SNP	1.000	T	20	80
ABCC8	6833	genome.wustl.edu	37	11	17483347	17483347	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:17483347C>T	ENST00000389817.3	-	5	673	c.605G>A	c.(604-606)aGg>aAg	p.R202K	ABCC8_ENST00000302539.4_Missense_Mutation_p.R202K			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	202					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTTCACCTCCCTCGGTGTCTT	0.582													ENSG00000006071																																					0													75.0	69.0	71.0					11																	17483347		2200	4293	6493	SO:0001583	missense	0			-	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.605G>A	11.37:g.17483347C>T	ENSP00000374467:p.Arg202Lys		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R202K	ENST00000389817.3	37	c.605	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.664587	0.00765	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.90620	-2.7;-2.7	5.49	2.13	0.27403	.	0.212764	0.38959	N	0.001507	T	0.68449	0.3002	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.58842	-0.7565	10	0.09084	T	0.74	.	5.3372	0.15965	0.0:0.4614:0.0:0.5386	.	202;202	B7Z4N0;Q09428	.;ABCC8_HUMAN	K	202;202;216	ENSP00000374467:R202K;ENSP00000303960:R202K	ENSP00000303960:R202K	R	-	2	0	ABCC8	17439923	0.999000	0.42202	0.457000	0.27056	0.084000	0.17831	3.014000	0.49590	0.799000	0.34018	-0.157000	0.13467	AGG	-	ABCC8	-	NULL		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	0	0		71	71		0.00		C	NM_000352		17483347	-1	38		60		tier1	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	38.78		SNP	0.018	T	38	60
ZZZ3	26009	genome.wustl.edu	37	1	78030487	78030487	+	3'UTR	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:78030487T>A	ENST00000370801.3	-	0	4025				ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3						chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAGTTTTCTTTGATGAGTTGT	0.299													ENSG00000036549																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.*838A>T	1.37:g.78030487T>A			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	R	SNP	-	NULL	ENST00000370801.3	37	NULL	CCDS677.1	1																																																																																			-	ZZZ3	-	-		0.299	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	0	0		53	53		0.00		T	NM_015534		78030487	-1	20		53		tier1	no_errors	ENST00000476275	ensembl	human	known	74_37	rna	27.40		SNP	1.000	A	20	53
OR52K2	119774	genome.wustl.edu	37	11	4470782	4470782	+	Silent	SNP	C	C	T	rs143954018	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:4470782C>T	ENST00000325719.4	+	1	258	c.213C>T	c.(211-213)atC>atT	p.I71I	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAGCCATCGACCTGGTCC	0.532													ENSG00000181963	C|||	3	0.000599042	0.0	0.0014	5008	,	,		23376	0.0		0.0	False		,,,				2504	0.002																0								C		0,4402		0,0,2201	157.0	132.0	140.0		213	-1.1	0.8	11	dbSNP_134	140	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR52K2	NM_001005172.2		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		71/315	4470782	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	0			-	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.213C>T	11.37:g.4470782C>T			A8MUY8|B2RP35|Q6IFK4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I71	ENST00000325719.4	37	c.213	CCDS31351.1	11																																																																																			rs143954018	OR52K2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	HGNC	protein_coding	OTTHUMT00000385844.1	0	0		54	54		0.00		C	NM_001005172		4470782	+1	30		62		tier1	no_errors	ENST00000325719	ensembl	human	known	74_37	silent	32.61		SNP	0.969	T	30	62
MIR7162	102466227	genome.wustl.edu	37	15	62539252	62539252	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:62539252C>T	ENST00000570077.1	-	0	337																											CAGCCAAGATCGTCTCCAGCT	0.607													ENSG00000166104																																					0																																												0			-																													15.37:g.62539252C>T				R	SNP	-	NULL	ENST00000570077.1	37	NULL		15																																																																																			-	hsa-mir-7162	-	-		0.607	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	ENSG00000166104	miRBase	pseudogene	OTTHUMT00000422143.1	0	0		114	114		0.00		C			62539252	-1	37		65		tier1	no_errors	ENST00000570077	ensembl	human	known	74_37	rna	36.27		SNP	0.912	T	37	65
FSIP2	401024	genome.wustl.edu	37	2	186667357	186667357	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:186667357G>A	ENST00000424728.1	+	17	13324	c.13324G>A	c.(13324-13326)Gac>Aac	p.D4442N	AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.D4531N|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4442										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TATTGTTCAGGACATCCTTAG	0.378													ENSG00000188738																																					0																																										SO:0001583	missense	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.13324G>A	2.37:g.186667357G>A	ENSP00000401306:p.Asp4442Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.D4531N	ENST00000424728.1	37	c.13591		2	.	.	.	.	.	.	.	.	.	.	G	1.054	-0.674891	0.03378	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.48201	0.82;0.82	5.27	3.47	0.39725	.	.	.	.	.	T	0.32971	0.0847	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	7	0.28530	T	0.3	.	7.943	0.29969	0.1846:0.0:0.8154:0.0	.	.	.	.	N	4531;4442	ENSP00000344403:D4531N;ENSP00000401306:D4442N	ENSP00000344403:D4531N	D	+	1	0	FSIP2	186375602	0.531000	0.26338	0.008000	0.14137	0.209000	0.24338	0.867000	0.27968	0.792000	0.33850	0.585000	0.79938	GAC	-	FSIP2	-	NULL		0.378	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0		39	39		0.00		G	NM_173651		186667357	+1	17		35		tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	32.69		SNP	0.037	A	17	35
DYNC2H1	79659	genome.wustl.edu	37	11	103106525	103106525	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:103106525A>G	ENST00000375735.2	+	62	9836	c.9692A>G	c.(9691-9693)aAg>aGg	p.K3231R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K3231R|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	3231					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)		GAATGGACCAAGTCAGCTGGT	0.348													ENSG00000187240																																					0													93.0	88.0	89.0					11																	103106525		1831	4101	5932	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.9692A>G	11.37:g.103106525A>G	ENSP00000364887:p.Lys3231Arg		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.K3231R	ENST00000375735.2	37	c.9692	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	11.23	1.577774	0.28180	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.48522	0.81;0.81	5.59	5.59	0.84812	.	0.234665	0.45361	D	0.000376	T	0.35770	0.0943	N	0.19112	0.55	0.31727	N	0.637587	B;B	0.17038	0.02;0.016	B;B	0.21151	0.033;0.029	T	0.36237	-0.9756	10	0.33940	T	0.23	.	15.8117	0.78571	1.0:0.0:0.0:0.0	.	3231;3231	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	3231	ENSP00000364887:K3231R;ENSP00000381167:K3231R	ENSP00000364887:K3231R	K	+	2	0	DYNC2H1	102611735	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.580000	0.53907	2.135000	0.66039	0.472000	0.43445	AAG	-	DYNC2H1	-	NULL		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	0	0		109	109		0.00		A	XM_370652		103106525	+1	38		97		tier1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	28.15		SNP	0.997	G	38	97
TMPRSS11E	28983	genome.wustl.edu	37	4	69344607	69344607	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:69344607C>T	ENST00000305363.4	+	9	1072	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	336	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGGTGACTCTCATAGACGCTA	0.363													ENSG00000087128																																					0													163.0	155.0	158.0					4																	69344607		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.1008C>T	4.37:g.69344607C>T			A6NL71|Q14DC8|Q6UW31	Silent	SNP	pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L336	ENST00000305363.4	37	c.1008	CCDS33993.1	4																																																																																			-	TMPRSS11E	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1		0.363	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11E	HGNC	protein_coding	OTTHUMT00000360584.1	0	0		37	37		0.00		C	NM_014058		69344607	+1	17		42		tier1	no_errors	ENST00000305363	ensembl	human	known	74_37	silent	28.81		SNP	0.572	T	17	42
DTL	51514	genome.wustl.edu	37	1	212251014	212251014	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:212251014C>T	ENST00000366991.4	+	12	1349				DTL_ENST00000475419.1_Intron|DTL_ENST00000542077.1_Intron|MIR3122_ENST00000577243.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)						cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCATCTTGTCCGAAGAGAGCT	0.403													ENSG00000264358																																					0																																										SO:0001627	intron_variant	0			-	AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1036-501C>T	1.37:g.212251014C>T			A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	R	SNP	-	NULL	ENST00000366991.4	37	NULL	CCDS1502.1	1																																																																																			-	MIR3122	-	-		0.403	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3122	HGNC	protein_coding	OTTHUMT00000090182.1	0	0		46	46		0.00		C	NM_016448		212251014	+1	22		45		tier1	no_errors	ENST00000577243	ensembl	human	known	74_37	rna	32.84		SNP	0.006	T	22	45
SPATA13	221178	genome.wustl.edu	37	13	24797073	24797073	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:24797073C>T	ENST00000382095.4	+	2	185				SPATA13_ENST00000424834.2_Silent_p.T2T|RP11-307N16.6_ENST00000382141.4_Silent_p.T2T|SPATA13_ENST00000382108.3_Silent_p.T2T	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGCCATGACCCAGGCTGCCG	0.697													ENSG00000182957																																					0													26.0	32.0	30.0					13																	24797073		692	1591	2283	SO:0001627	intron_variant	0			-	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-26542C>T	13.37:g.24797073C>T			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.T2	ENST00000382095.4	37	c.6	CCDS9305.1	13	.	.	.	.	.	.	.	.	.	.	C	5.391	0.257326	0.10239	.	.	ENSG00000182957	ENST00000424834	.	.	.	4.61	0.541	0.17168	.	.	.	.	.	T	0.29491	0.0735	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	.	5.8792	0.18846	0.0:0.5254:0.2987:0.1759	.	.	.	.	S	40	.	.	P	+	1	0	SPATA13	23695073	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.007000	0.13174	0.198000	0.20407	0.555000	0.69702	CCA	-	SPATA13	-	NULL		0.697	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	0	0		44	44		0.00		C	NM_153023		24797073	+1	11		29		tier1	no_errors	ENST00000382108	ensembl	human	known	74_37	silent	27.50		SNP	0.000	T	11	29
KHNYN	23351	genome.wustl.edu	37	14	24900848	24900848	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:24900848C>T	ENST00000251343.5	+	3	520	c.381C>T	c.(379-381)gcC>gcT	p.A127A	CBLN3_ENST00000555436.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000556842.1_Silent_p.A127A|KHNYN_ENST00000553935.1_Silent_p.A127A|KHNYN_ENST00000554268.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	127							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGACTGAAGCCTTTGTCATGG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000100441																																					0													45.0	49.0	48.0					14																	24900848		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.381C>T	14.37:g.24900848C>T		774	Q86TZ6|Q8IUQ2|Q96BA9	Silent	SNP	pfam_RNase_Zc3h12	p.A127	ENST00000251343.5	37	c.381	CCDS32058.1	14																																																																																			-	KHNYN	-	NULL		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	HGNC	protein_coding	OTTHUMT00000412928.1	0	0		22	22		0.00		C			24900848	+1	7		9		tier1	no_errors	ENST00000251343	ensembl	human	known	74_37	silent	43.75		SNP	0.981	T	7	9
ASTN2	23245	genome.wustl.edu	37	9	119737615	119737615	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:119737615G>A	ENST00000313400.4	-	10	1861	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.F536F			O75129	ASTN2_HUMAN	astrotactin 2	587					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGCCCAAGCTGAAAGTAGACC	0.552													ENSG00000148219																																					0													59.0	56.0	57.0					9																	119737615		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1761C>T	9.37:g.119737615G>A			A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.F587	ENST00000313400.4	37	c.1761		9																																																																																			-	ASTN2	-	NULL		0.552	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		0	0		58	58		0.00		G	NM_014010		119737615	-1	11		46		tier1	no_errors	ENST00000313400	ensembl	human	known	74_37	silent	19.30		SNP	1.000	A	11	46
TRIAP1	51499	genome.wustl.edu	37	12	120884352	120884352	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:120884352G>A	ENST00000546954.1	-	0	0				GATC_ENST00000551765.1_Silent_p.K23K|AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACCTCCAAGGCGGATCCTC	0.697													ENSG00000257218																																					0													38.0	45.0	43.0					12																	120884352		2203	4298	6501	SO:0001631	upstream_gene_variant	0			-		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"""p53-inducible cell-survival factor"", ""mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"""	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884352G>A	Exception_encountered		B2R4Z7|Q5RKS5|Q6LCA7	Silent	SNP	pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu	p.K23	ENST00000546954.1	37	c.69	CCDS9198.1	12																																																																																			-	GATC	-	NULL		0.697	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATC	HGNC	protein_coding	OTTHUMT00000108980.3	0	0		34	34		0.00		G	NM_016399		120884352	+1	9		43		tier1	no_errors	ENST00000551765	ensembl	human	known	74_37	silent	17.31		SNP	0.011	A	9	43
B4GALT5	9334	genome.wustl.edu	37	20	48260127	48260127	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:48260127G>A	ENST00000371711.4	-	4	612	c.425C>T	c.(424-426)tCc>tTc	p.S142F		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	142					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TGGGTCTTTGGAGAAGAGTTC	0.468													ENSG00000158470																																					0													194.0	172.0	179.0					20																	48260127		2203	4300	6503	SO:0001583	missense	0			-	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.425C>T	20.37:g.48260127G>A	ENSP00000360776:p.Ser142Phe		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.S142F	ENST00000371711.4	37	c.425	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549334	0.65311	.	.	ENSG00000158470	ENST00000371711	T	0.22945	1.93	5.46	5.46	0.80206	.	0.317141	0.39544	N	0.001335	T	0.39860	0.1094	M	0.79693	2.465	0.48040	D	0.999576	B	0.19935	0.04	B	0.29176	0.099	T	0.31308	-0.9948	10	0.51188	T	0.08	-26.4116	19.3065	0.94164	0.0:0.0:1.0:0.0	.	142	O43286	B4GT5_HUMAN	F	142	ENSP00000360776:S142F	ENSP00000360776:S142F	S	-	2	0	B4GALT5	47693534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.607000	0.61133	2.547000	0.85894	0.561000	0.74099	TCC	-	B4GALT5	-	pfam_Galactosyl_T_C		0.468	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3	0	0		58	58		0.00		G	NM_004776		48260127	-1	37		65		tier1	no_errors	ENST00000371711	ensembl	human	known	74_37	missense	36.27		SNP	1.000	A	37	65
GRIA2	2891	genome.wustl.edu	37	4	158281316	158281316	+	Intron	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:158281316A>G	ENST00000264426.9	+	13	2570				AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000296526.7_Intron|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000449365.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TAGTATAACAATATGCTAAAT	0.408													ENSG00000263738																																					0													67.0	58.0	61.0					4																	158281316		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2291+21A>G	4.37:g.158281316A>G			A8MT92|I6L997|Q96FP6	R	SNP	-	NULL	ENST00000264426.9	37	NULL	CCDS43274.1	4																																																																																			-	AC079233.1	-	-		0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000263738	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000258367.2	0	0		11	11		0.00		A			158281316	+1	9		15		tier1	no_errors	ENST00000578227	ensembl	human	novel	74_37	rna	37.50		SNP	1.000	G	9	15
EP300	2033	genome.wustl.edu	37	22	41513453	41513453	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:41513453T>A	ENST00000263253.7	+	2	1576	c.357T>A	c.(355-357)aaT>aaA	p.N119K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	119	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTTTGATAAATAGCATGGTCA	0.522			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				ENSG00000100393																												Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													75.0	72.0	73.0					22																	41513453		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	-	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.357T>A	22.37:g.41513453T>A	ENSP00000263253:p.Asn119Lys		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.N119K	ENST00000263253.7	37	c.357	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957446	0.53400	.	.	ENSG00000100393	ENST00000263253	D	0.83673	-1.75	6.17	2.92	0.33932	.	0.000000	0.51477	D	0.000084	T	0.78078	0.4227	L	0.41236	1.265	0.39959	D	0.974632	D	0.57257	0.979	P	0.51918	0.684	T	0.72707	-0.4212	10	0.10377	T	0.69	-8.7584	8.7262	0.34471	0.0:0.3831:0.0:0.6169	.	119	Q09472	EP300_HUMAN	K	119	ENSP00000263253:N119K	ENSP00000263253:N119K	N	+	3	2	EP300	39843399	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.603000	0.24149	0.549000	0.28973	0.533000	0.62120	AAT	-	EP300	-	NULL		0.522	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	0	0		31	31		0.00		T	NM_001429		41513453	+1	18		23		tier1	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	43.90		SNP	1.000	A	18	23
FUT8	2530	genome.wustl.edu	37	14	66096251	66096251	+	Missense_Mutation	SNP	G	G	A	rs139587074		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:66096251G>A	ENST00000360689.5	+	6	2251	c.524G>A	c.(523-525)gGa>gAa	p.G175E	FUT8_ENST00000358307.2_Missense_Mutation_p.G46E|FUT8_ENST00000394586.2_Missense_Mutation_p.G175E|FUT8_ENST00000557164.1_Missense_Mutation_p.G12E|FUT8_ENST00000394585.1_Missense_Mutation_p.G175E	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	175					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CAGACAGATGGAGCAGGTGAT	0.413													ENSG00000033170																																					0													141.0	135.0	137.0					14																	66096251		2203	4300	6503	SO:0001583	missense	0			-	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.524G>A	14.37:g.66096251G>A	ENSP00000353910:p.Gly175Glu		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.G175E	ENST00000360689.5	37	c.524	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763368	0.89932	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94873	0.8032	10	0.62326	D	0.03	-17.2668	16.8447	0.85977	0.0:0.0:1.0:0.0	.	46;175	G3XAD2;Q9BYC5	.;FUT8_HUMAN	E	175;175;12;175;46	ENSP00000353910:G175E;ENSP00000378087:G175E;ENSP00000452433:G12E;ENSP00000378086:G175E;ENSP00000351057:G46E	ENSP00000345865:G175E	G	+	2	0	FUT8	65166004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.309000	0.78937	2.638000	0.89438	0.650000	0.86243	GGA	-	FUT8	-	pirsf_Alpha1_6FUT_euk		0.413	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	0	0		96	96		0.00		G	NM_004480		66096251	+1	56		41		tier1	no_errors	ENST00000360689	ensembl	human	known	74_37	missense	57.73		SNP	1.000	A	56	41
FRMPD4	9758	genome.wustl.edu	37	X	12712520	12712520	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:12712520C>T	ENST00000380682.1	+	9	1386	c.880C>T	c.(880-882)Cca>Tca	p.P294S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	294	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCAAAAGATCCAATTGACCT	0.398													ENSG00000169933																																					0													148.0	114.0	126.0					X																	12712520		2203	4300	6503	SO:0001583	missense	0			-	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.880C>T	X.37:g.12712520C>T	ENSP00000370057:p.Pro294Ser		A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.P294S	ENST00000380682.1	37	c.880	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030065	0.93575	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.42513	0.97	5.15	5.15	0.70609	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.62016	1.91	0.49389	D	0.999788	D;D	0.89917	1.0;0.99	D;D	0.97110	1.0;0.963	T	0.65919	-0.6051	10	0.59425	D	0.04	.	18.038	0.89311	0.0:1.0:0.0:0.0	.	286;294	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	294;285;283	ENSP00000370057:P294S	ENSP00000304583:P283S	P	+	1	0	FRMPD4	12622441	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.370000	0.79589	2.281000	0.76405	0.600000	0.82982	CCA	-	FRMPD4	-	superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.398	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	0	0		60	60		0.00		C	XM_045712		12712520	+1	26		50		tier1	no_errors	ENST00000380682	ensembl	human	known	74_37	missense	34.21		SNP	1.000	T	26	50
LINC00298	339788	genome.wustl.edu	37	2	8108350	8108350	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:8108350C>T	ENST00000426969.1	-	0	237					NR_015405.1																						ttcttgaatcccataggcAGC	0.408													ENSG00000235665																																					0																																												0			-																													2.37:g.8108350C>T				R	SNP	-	NULL	ENST00000426969.1	37	NULL		2																																																																																			-	AC007464.1	-	-		0.408	AC007464.1-001	KNOWN	basic	lincRNA	LOC339788	Clone_based_vega_gene	lincRNA	OTTHUMT00000323254.1	0	0		77	77		0.00		C			8108350	-1	27		52		tier1	no_errors	ENST00000426969	ensembl	human	known	74_37	rna	34.18		SNP	0.000	T	27	52
FCGR2A	2212	genome.wustl.edu	37	1	161487995	161487995	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:161487995G>A	ENST00000271450.6	+	0	1049				RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000486608.1_3'UTR|FCGR2A_ENST00000367972.4_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGACAAAAAGAGGGGAATtg	0.398													ENSG00000143226																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.*57G>A	1.37:g.161487995G>A			Q8WUN1|Q8WW64	R	SNP	-	NULL	ENST00000271450.6	37	NULL	CCDS44264.1	1																																																																																			-	FCGR2A	-	-		0.398	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	0	0		50	50		0.00		G	NM_021642		161487995	+1	11		63		tier1	no_errors	ENST00000461298	ensembl	human	known	74_37	rna	14.86		SNP	0.004	A	11	63
CCDC60	160777	genome.wustl.edu	37	12	119773025	119773025	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:119773025A>G	ENST00000327554.2	+	1	509	c.44A>G	c.(43-45)aAc>aGc	p.N15S	CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.N15S|CCDC60_ENST00000539847.1_Missense_Mutation_p.N15S	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	15										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTTCCCCCAACTCGGGGGCT	0.493													ENSG00000183273																																					0													71.0	79.0	76.0					12																	119773025		2203	4300	6503	SO:0001583	missense	0			-	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.44A>G	12.37:g.119773025A>G	ENSP00000333374:p.Asn15Ser			Missense_Mutation	SNP	NULL	p.N15S	ENST00000327554.2	37	c.44	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	A	6.473	0.455402	0.12283	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.43294	0.95;2.04;1.1	4.88	-0.266	0.12942	.	0.510501	0.17469	N	0.173154	T	0.12263	0.0298	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.16897	-1.0387	9	.	.	.	-12.7148	1.301	0.02079	0.2869:0.4049:0.129:0.1792	.	15	Q8IWA6	CCD60_HUMAN	S	15	ENSP00000445505:N15S;ENSP00000333374:N15S;ENSP00000443403:N15S	.	N	+	2	0	CCDC60	118257408	0.000000	0.05858	0.006000	0.13384	0.076000	0.17211	0.056000	0.14256	0.156000	0.19299	0.529000	0.55759	AAC	-	CCDC60	-	NULL		0.493	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	0	0		157	157		0.00		A	NM_178499		119773025	+1	66		98		tier1	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	40.24		SNP	0.007	G	66	98
LINC01207	100505989	genome.wustl.edu	37	4	165722399	165722399	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:165722399G>A	ENST00000507311.1	+	0	575					NR_038834.1																						caatccatgggaactactTAT	0.373													ENSG00000248771																																					0																																												0			-																													4.37:g.165722399G>A				R	SNP	-	NULL	ENST00000507311.1	37	NULL		4																																																																																			-	RP11-294O2.2	-	-		0.373	RP11-294O2.2-001	KNOWN	basic	lincRNA	LOC100505989	Clone_based_vega_gene	lincRNA	OTTHUMT00000364323.1	0	0		60	60		0.00		G			165722399	+1	17		58		tier1	no_errors	ENST00000507311	ensembl	human	known	74_37	rna	22.67		SNP	0.013	A	17	58
TSSC1	7260	genome.wustl.edu	37	2	3193007	3193007	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:3193007C>T	ENST00000382125.4	-	0	1454				TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_3'UTR	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)		GAGAGGGATCCACCTGGAACA	0.552													ENSG00000032389																									Colon(140;1261 1762 4183 34270 49743)												0																																										SO:0001624	3_prime_UTR_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.*98G>A	2.37:g.3193007C>T			D6W4Y1|O43179|Q53S19|Q53SG2	R	SNP	-	NULL	ENST00000382125.4	37	NULL	CCDS1651.1	2																																																																																			-	TSSC1	-	-		0.552	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	0	0		52	52		0.00		C	NM_003310		3193007	-1	18		41		tier1	no_errors	ENST00000478754	ensembl	human	known	74_37	rna	30.51		SNP	0.000	T	18	41
LINC00311	197196	genome.wustl.edu	37	16	85317065	85317065	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:85317065G>A	ENST00000366314.4	+	0	502					NR_038859.1		Q8N616	TM148_HUMAN	long intergenic non-protein coding RNA 311																		TGGAGCGAATGGGCTCGTGAG	0.632													ENSG00000179219																																					0																																												0			-	BC030801		16q24.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000179219	ENSG00000179219		"""Long non-coding RNAs"""	28312	non-coding RNA	RNA, long non-coding			"""transmembrane protein 148"", ""non-protein coding RNA 311"""	TMEM148, NCRNA00311		12477932	Standard	NR_038859		Approved	MGC22001	uc021tmc.1	Q8N616	OTTHUMG00000137643		16.37:g.85317065G>A				R	SNP	-	NULL	ENST00000366314.4	37	NULL		16																																																																																			-	LINC00311	-	-		0.632	LINC00311-001	KNOWN	basic	lincRNA	LINC00311	HGNC	lincRNA	OTTHUMT00000269085.1	0	0		26	26		0.00		G	XR_017879		85317065	+1	15		12		tier1	no_errors	ENST00000366314	ensembl	human	known	74_37	rna	55.56		SNP	0.000	A	15	12
VPS13B	157680	genome.wustl.edu	37	8	100115205	100115205	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:100115205G>A	ENST00000358544.2	+	5	548	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	VPS13B_ENST00000441350.2_Missense_Mutation_p.R146Q|VPS13B_ENST00000355155.1_Missense_Mutation_p.R146Q|VPS13B_ENST00000395996.1_Missense_Mutation_p.R146Q|VPS13B_ENST00000357162.2_Missense_Mutation_p.R146Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	146					protein transport (GO:0015031)			p.R146Q(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGATTAGACGAGTTGTAAAT	0.274													ENSG00000132549																									Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	large_intestine(2)											82.0	84.0	83.0					8																	100115205		2203	4298	6501	SO:0001583	missense	0			-	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.437G>A	8.37:g.100115205G>A	ENSP00000351346:p.Arg146Gln		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R146Q	ENST00000358544.2	37	c.437	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796268	0.90453	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.82984	-1.11;-0.41;-0.41;-0.12;-1.67	5.94	5.07	0.68467	.	0.000000	0.64402	D	0.000002	D	0.89677	0.6784	M	0.66939	2.045	0.47862	D	0.999538	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.99;0.992;0.992;0.989;0.962	D	0.89949	0.4078	10	0.51188	T	0.08	.	15.1108	0.72355	0.0676:0.0:0.9324:0.0	.	146;146;146;146;146	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Q	146	ENSP00000347281:R146Q;ENSP00000349685:R146Q;ENSP00000351346:R146Q;ENSP00000379318:R146Q;ENSP00000398472:R146Q	ENSP00000347281:R146Q	R	+	2	0	VPS13B	100184381	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.086000	0.94088	1.524000	0.49035	-0.259000	0.10710	CGA	-	VPS13B	-	NULL		0.274	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	0	0		45	45		0.00		G	NM_184042		100115205	+1	4		36		tier1	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	10.00		SNP	1.000	A	4	36
MTCL1	23255	genome.wustl.edu	37	18	8825818	8825818	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:8825818C>T	ENST00000306329.11	+	13	5267	c.5267C>T	c.(5266-5268)aCc>aTc	p.T1756I	SOGA2_ENST00000517570.1_Missense_Mutation_p.T1396I|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1396I|SOGA2_ENST00000518815.1_Missense_Mutation_p.T762I|SOGA2_ENST00000306285.7_Missense_Mutation_p.T762I|SOGA2_ENST00000359865.3_Missense_Mutation_p.T1437I																							CCCGTGCACACCACCATTAAT	0.617													ENSG00000168502																																					0													56.0	63.0	61.0					18																	8825818		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000306329.11:c.5267C>T	18.37:g.8825818C>T	ENSP00000305027:p.Thr1756Ile			Missense_Mutation	SNP	pfam_SOGA	p.T1437I	ENST00000306329.11	37	c.4310		18	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976810	0.74360	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.55	4.69	0.59074	.	0.536582	0.17216	N	0.182540	T	0.52964	0.1767	M	0.67953	2.075	0.47407	D	0.999418	D;D	0.76494	0.993;0.999	P;D	0.69479	0.844;0.964	T	0.54125	-0.8340	10	0.59425	D	0.04	-10.7418	14.3979	0.67022	0.0:0.9287:0.0:0.0713	.	1747;1437	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	I	1458;1396;1437;1396;762	ENSP00000429556:T1396I;ENSP00000352927:T1437I;ENSP00000382924:T1396I;ENSP00000303670:T762I	ENSP00000303670:T762I	T	+	2	0	CCDC165	8815818	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	4.887000	0.63156	1.355000	0.45865	0.462000	0.41574	ACC	-	SOGA2	-	NULL		0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	0	0		92	92		0.00		C			8825818	+1	26		44		tier1	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	37.14		SNP	1.000	T	26	44
DCLRE1B	64858	genome.wustl.edu	37	1	114449769	114449769	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114449769C>T	ENST00000369563.3	+	2	787	c.341C>T	c.(340-342)aCc>aTc	p.T114I	AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank|DCLRE1B_ENST00000466480.1_Intron|AP4B1_ENST00000256658.4_5'Flank|AP4B1_ENST00000369569.1_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	114					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		TATTTTGGAACCATCCTCTAC	0.398								Other identified genes with known or suspected DNA repair function					ENSG00000118655																																					0													137.0	128.0	131.0					1																	114449769		2203	4300	6503	SO:0001583	missense	0			-	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.341C>T	1.37:g.114449769C>T	ENSP00000358576:p.Thr114Ile		Q9H9E5	Missense_Mutation	SNP	pfam_DRMBL	p.T114I	ENST00000369563.3	37	c.341	CCDS866.1	1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920676	0.73213	.	.	ENSG00000118655	ENST00000369563	T	0.78246	-1.16	5.67	4.76	0.60689	Beta-lactamase-like (1);	0.048755	0.85682	D	0.000000	T	0.74222	0.3688	M	0.81802	2.56	0.49130	D	0.999753	P	0.49862	0.929	P	0.48304	0.573	T	0.75238	-0.3388	10	0.34782	T	0.22	-20.5233	11.5309	0.50610	0.0:0.8572:0.0:0.1428	.	114	Q9H816	DCR1B_HUMAN	I	114	ENSP00000358576:T114I	ENSP00000358576:T114I	T	+	2	0	DCLRE1B	114251292	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.941000	0.49011	1.398000	0.46701	0.561000	0.74099	ACC	-	DCLRE1B	-	NULL		0.398	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	0	0		60	60		0.00		C	NM_022836		114449769	+1	12		49		tier1	no_errors	ENST00000369563	ensembl	human	known	74_37	missense	19.67		SNP	1.000	T	12	49
DNAH2	146754	genome.wustl.edu	37	17	7734590	7734590	+	Silent	SNP	G	G	A	rs527798231		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7734590G>A	ENST00000572933.1	+	80	13877	c.12417G>A	c.(12415-12417)caG>caA	p.Q4139Q	DNAH2_ENST00000389173.2_Silent_p.Q4139Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4139					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCAACCTCAGATTACACCCA	0.567													ENSG00000183914																																					0													101.0	109.0	106.0					17																	7734590		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12417G>A	17.37:g.7734590G>A			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q4139	ENST00000572933.1	37	c.12417	CCDS32551.1	17																																																																																			-	DH2	-	pfam_Dynein_heavy_dom		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH2	HGNC	protein_coding	OTTHUMT00000440241.1	0	0		41	41		0.00		G	NM_020877		7734590	+1	10		32		tier1	no_errors	ENST00000389173	ensembl	human	known	74_37	silent	23.81		SNP	1.000	A	10	32
DHRS4L2	317749	genome.wustl.edu	37	14	24470241	24470241	+	Splice_Site	DEL	G	G	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:24470241delG	ENST00000335125.6	+	5	605		c.e5-1		DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Splice_Site|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000534993.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TCTTTTTCCAGAGGCGGCTCA	0.562													ENSG00000187630																																					0													169.0	168.0	168.0					14																	24470241		2203	4300	6503	SO:0001630	splice_region_variant	0					CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.480-1G>-	14.37:g.24470241delG			Q3YLD4	Splice_Site	DEL	-	e5-1	ENST00000335125.6	37	c.474-1	CCDS9606.2	14																																																																																				DHRS4L2	-	-		0.562	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	DHRS4L2	HGNC	protein_coding	OTTHUMT00000071858.4	0	0		70	70		0.00		G		Intron	24470241	+1	25		42		tier1	no_errors	ENST00000382755	ensembl	human	known	74_37	splice_site_del	37.31		DEL	0.969	-	25	42
HMOX2	3163	genome.wustl.edu	37	16	4559476	4559476	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4559476C>T	ENST00000570646.1	+	5	1365	c.760C>T	c.(760-762)Cct>Tct	p.P254S	HMOX2_ENST00000406590.2_Missense_Mutation_p.P254S|HMOX2_ENST00000219700.6_Missense_Mutation_p.P254S|HMOX2_ENST00000414777.1_Missense_Mutation_p.P254S|HMOX2_ENST00000398595.3_Missense_Mutation_p.P254S|HMOX2_ENST00000458134.3_Missense_Mutation_p.P254S|HMOX2_ENST00000575120.1_Missense_Mutation_p.P225S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	254					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GGATGGGTTCCCTGTACACGA	0.557													ENSG00000103415																																					0													210.0	197.0	201.0					16																	4559476		2197	4300	6497	SO:0001583	missense	0			-		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.760C>T	16.37:g.4559476C>T	ENSP00000459214:p.Pro254Ser		A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.P254S	ENST00000570646.1	37	c.760	CCDS10517.1	16	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497789	0.26861	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.18	4.21	0.49690	Haem oxygenase-like, multi-helical (1);	0.187319	0.64402	D	0.000018	T	0.18467	0.0443	L	0.39147	1.195	0.54753	D	0.999983	B;B	0.24721	0.11;0.11	B;B	0.24541	0.054;0.054	T	0.02958	-1.1089	10	0.42905	T	0.14	-16.9705	12.9428	0.58354	0.0:0.9192:0.0:0.0808	.	254;254	B3KSE0;P30519	.;HMOX2_HUMAN	S	254	ENSP00000385100:P254S;ENSP00000394103:P254S;ENSP00000219700:P254S;ENSP00000391637:P254S;ENSP00000381595:P254S	ENSP00000219700:P254S	P	+	1	0	HMOX2	4499477	1.000000	0.71417	0.998000	0.56505	0.183000	0.23260	3.093000	0.50217	2.700000	0.92200	0.462000	0.41574	CCT	-	HMOX2	-	superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase		0.557	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX2	HGNC	protein_coding	OTTHUMT00000251636.2	0	0		33	33		0.00		C			4559476	+1	13		57		tier1	no_errors	ENST00000219700	ensembl	human	known	74_37	missense	18.57		SNP	1.000	T	13	57
SPEG	10290	genome.wustl.edu	37	2	220333750	220333750	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220333750G>A	ENST00000312358.7	+	12	3603	c.3471G>A	c.(3469-3471)cgG>cgA	p.R1157R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1157					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)		AAGAGCCCCGGACAGCCGCCT	0.687													ENSG00000072195																																					0													27.0	34.0	32.0					2																	220333750		1904	4113	6017	SO:0001819	synonymous_variant	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.3471G>A	2.37:g.220333750G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	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.R1157	ENST00000312358.7	37	c.3471	CCDS42824.1	2																																																																																			-	SPEG	-	NULL		0.687	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	0	0		66	66		0.00		G	NM_005876		220333750	+1	45		50		tier1	no_errors	ENST00000312358	ensembl	human	novel	74_37	silent	47.37		SNP	0.487	A	45	50
OR6B1	135946	genome.wustl.edu	37	7	143701182	143701182	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:143701182C>T	ENST00000408922.2	+	1	161	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	31						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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTCTGATATTCCTTGTGGCCT	0.488													ENSG00000221813																																					0													125.0	117.0	120.0					7																	143701182		2016	4189	6205	SO:0001819	synonymous_variant	0			-		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.93C>T	7.37:g.143701182C>T			A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31	ENST00000408922.2	37	c.93	CCDS43667.1	7																																																																																			-	OR6B1	-	prints_GPCR_Rhodpsn		0.488	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	0	0		100	100		0.00		C			143701182	+1	45		87		tier1	no_errors	ENST00000408922	ensembl	human	known	74_37	silent	34.09		SNP	0.739	T	45	87
MED23	9439	genome.wustl.edu	37	6	131915262	131915262	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:131915262C>T	ENST00000368068.3	-	23	3388	c.3209G>A	c.(3208-3210)aGa>aAa	p.R1070K	MED23_ENST00000403834.3_Missense_Mutation_p.R1076K|MED23_ENST00000368060.3_Missense_Mutation_p.R1070K|MED23_ENST00000545957.1_Missense_Mutation_p.R711K|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Missense_Mutation_p.R1076K|MED23_ENST00000368058.1_Missense_Mutation_p.R1076K	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1070					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCCAATCAATCTGCAATAGTA	0.368													ENSG00000112282																																					0													109.0	100.0	103.0					6																	131915262		2203	4300	6503	SO:0001583	missense	0			-	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3209G>A	6.37:g.131915262C>T	ENSP00000357047:p.Arg1070Lys		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.R1076K	ENST00000368068.3	37	c.3227	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	C	7.028	0.560044	0.13498	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	6.17	2.18	0.27775	.	0.208574	0.56097	N	0.000025	T	0.16514	0.0397	N	0.01109	-1.01	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.39313	-0.9620	10	0.02654	T	1	-10.2833	9.2739	0.37688	0.0:0.3483:0.0:0.6517	.	711;1070;1076	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	K	1076;1070;1076;1070;1076;711	ENSP00000346588:R1076K;ENSP00000357047:R1070K;ENSP00000384536:R1076K;ENSP00000357039:R1070K;ENSP00000357037:R1076K;ENSP00000439977:R711K	ENSP00000346588:R1076K	R	-	2	0	MED23	131956955	1.000000	0.71417	0.984000	0.44739	0.999000	0.98932	2.175000	0.42491	0.093000	0.17368	0.655000	0.94253	AGA	-	MED23	-	pfam_Mediator_Med23		0.368	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	0	0		51	51		0.00		C			131915262	-1	27		69		tier1	no_errors	ENST00000368058	ensembl	human	known	74_37	missense	28.12		SNP	1.000	T	27	69
ACSM4	341392	genome.wustl.edu	37	12	7463240	7463240	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7463240C>T	ENST00000399422.4	+	3	566	c.518C>T	c.(517-519)cCa>cTa	p.P173L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	173					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GAGGTGGCCCCAGCGGTGGAG	0.532													ENSG00000215009																																					0													48.0	48.0	48.0					12																	7463240		1989	4165	6154	SO:0001583	missense	0			-		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.518C>T	12.37:g.7463240C>T	ENSP00000382349:p.Pro173Leu		A8MTI6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P173L	ENST00000399422.4	37	c.518	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	C	3.780	-0.045888	0.07452	.	.	ENSG00000215009	ENST00000399422	T	0.11495	2.77	3.48	1.38	0.22167	AMP-dependent synthetase/ligase (1);	0.187978	0.25288	U	0.031745	T	0.12178	0.0296	L	0.59967	1.855	0.24997	N	0.991492	B	0.26512	0.151	B	0.36766	0.232	T	0.23404	-1.0189	10	0.52906	T	0.07	-0.8445	3.6923	0.08351	0.414:0.4508:0.0:0.1352	.	173	P0C7M7	ACSM4_HUMAN	L	173	ENSP00000382349:P173L	ENSP00000382349:P173L	P	+	2	0	ACSM4	7354507	0.001000	0.12720	0.127000	0.21898	0.006000	0.05464	1.152000	0.31663	0.202000	0.20498	-0.345000	0.07892	CCA	-	ACSM4	-	pfam_AMP-dep_Synth/Lig		0.532	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	HGNC	protein_coding	OTTHUMT00000337866.2	0	0		59	59		0.00		C	NM_001080454		7463240	+1	16		60		tier1	no_errors	ENST00000399422	ensembl	human	novel	74_37	missense	21.05		SNP	0.142	T	16	60
RCBTB1	55213	genome.wustl.edu	37	13	50129763	50129763	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:50129763G>A	ENST00000378302.2	-	6	751	c.491C>T	c.(490-492)tCt>tTt	p.S164F	RCBTB1_ENST00000258646.3_Missense_Mutation_p.S164F|RCBTB1_ENST00000546015.1_Missense_Mutation_p.S164F	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	164					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		ATTTGCTGTAGAACCTGATCC	0.418													ENSG00000136144																																					0													153.0	131.0	139.0					13																	50129763		2203	4300	6503	SO:0001583	missense	0			-	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.491C>T	13.37:g.50129763G>A	ENSP00000367552:p.Ser164Phe		Q8IY29|Q969U9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S164F	ENST00000378302.2	37	c.491	CCDS9418.1	13	.	.	.	.	.	.	.	.	.	.	G	30	5.054075	0.93793	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.81659	-1.52;-1.52;-1.52	5.22	5.22	0.72569	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.049130	0.85682	D	0.000000	D	0.89674	0.6783	M	0.75777	2.31	0.80722	D	1	D	0.61080	0.989	D	0.73708	0.981	D	0.90432	0.4425	10	0.72032	D	0.01	-17.8204	19.1538	0.93502	0.0:0.0:1.0:0.0	.	164	Q8NDN9	RCBT1_HUMAN	F	164	ENSP00000258646:S164F;ENSP00000367552:S164F;ENSP00000443293:S164F	ENSP00000258646:S164F	S	-	2	0	RCBTB1	49027764	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.476000	0.97823	2.597000	0.87782	0.655000	0.94253	TCT	-	RCBTB1	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.418	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB1	HGNC	protein_coding	OTTHUMT00000044912.2	0	0		53	53		0.00		G	NM_018191		50129763	-1	11		33		tier1	no_errors	ENST00000258646	ensembl	human	known	74_37	missense	25.00		SNP	1.000	A	11	33
COPB2	9276	genome.wustl.edu	37	3	139079946	139079946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:139079946delG	ENST00000333188.5	-	17	2368	c.2187delC	c.(2185-2187)ttcfs	p.F729fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.F700fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	729					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AGTAGCTCATGAATGCCACAT	0.428													ENSG00000184432																																					0													167.0	160.0	162.0					3																	139079946		2203	4300	6503	SO:0001589	frameshift_variant	0				BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2187delC	3.37:g.139079946delG	ENSP00000329419:p.Phe729fs		B4DZI8	Frame_Shift_Del	DEL	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F729fs	ENST00000333188.5	37	c.2187	CCDS3108.1	3																																																																																				COPB2	-	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg		0.428	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	0	0		39	39		0.00		G	NM_004766		139079946	-1	17		46		tier1	no_errors	ENST00000333188	ensembl	human	known	74_37	frame_shift_del	26.98		DEL	1.000	-	17	46
PPP1R12C	54776	genome.wustl.edu	37	19	55605723	55605723	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55605723C>T	ENST00000263433.3	-	13	1688	c.1673G>A	c.(1672-1674)aGg>aAg	p.R558K	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R558K|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R484K	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CTGTGTGGACCTCCGAGACTG	0.662													ENSG00000125503																																					0													75.0	73.0	74.0					19																	55605723		2203	4300	6503	SO:0001583	missense	0			-	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1673G>A	19.37:g.55605723C>T	ENSP00000263433:p.Arg558Lys			Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R558K	ENST00000263433.3	37	c.1673	CCDS12916.1	19	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687943	0.88639	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	D;D;D	0.90385	-2.46;-2.07;-2.66	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.75615	2.305	0.58432	D	0.999994	D;P;D	0.69078	0.997;0.953;0.997	D;D;D	0.72625	0.978;0.977;0.978	D	0.95192	0.8309	10	0.72032	D	0.01	.	15.6994	0.77533	0.0:1.0:0.0:0.0	.	484;557;558	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	K	558;558;484	ENSP00000263433:R558K;ENSP00000365573:R558K;ENSP00000387833:R484K	ENSP00000263433:R558K	R	-	2	0	PPP1R12C	60297535	0.999000	0.42202	1.000000	0.80357	0.929000	0.56500	6.354000	0.73036	2.390000	0.81377	0.561000	0.74099	AGG	-	PPP1R12C	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.662	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12C	HGNC	protein_coding	OTTHUMT00000451814.2	0	0		41	41		0.00		C	NM_017607		55605723	-1	8		40		tier1	no_errors	ENST00000263433	ensembl	human	known	74_37	missense	16.67		SNP	1.000	T	8	40
ERVMER61-1	339476	genome.wustl.edu	37	1	187610372	187610372	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:187610372C>T	ENST00000429725.1	+	0	15									endogenous retrovirus group MER61, member 1																		cctcctcttcctgggtgtaaa	0.547													ENSG00000230426																																					0																																												0			-	BC040856		1q31.1	2013-10-11	2011-05-05	2011-05-05	ENSG00000230426	ENSG00000230426			27919	other	endogenous retrovirus			"""chromosome 1 open reading frame 99"""	C1orf99		21542922	Standard			Approved				OTTHUMG00000035624		1.37:g.187610372C>T				R	SNP	-	NULL	ENST00000429725.1	37	NULL		1																																																																																			-	ERVMER61-1	-	-		0.547	ERVMER61-1-001	KNOWN	basic	lincRNA	ERVMER61-1	HGNC	lincRNA	OTTHUMT00000086446.2	0	0		25	25		0.00		C	NM_001012274		187610372	+1	6		26		tier1	no_errors	ENST00000429725	ensembl	human	known	74_37	rna	18.75		SNP	0.128	T	6	26
C14orf37	145407	genome.wustl.edu	37	14	58605956	58605956	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:58605956G>A	ENST00000267485.7	-	2	315	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	41						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TTTTCCGCATGAACATGTGCT	0.483													ENSG00000139971																																					0													233.0	232.0	232.0					14																	58605956		2203	4300	6503	SO:0001583	missense	0			-		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.121C>T	14.37:g.58605956G>A	ENSP00000267485:p.His41Tyr		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.H41Y	ENST00000267485.7	37	c.121	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342353	0.24339	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.34275	1.37	4.33	1.26	0.21427	.	1.141740	0.06430	N	0.723924	T	0.24084	0.0583	L	0.35414	1.06	0.09310	N	1	B;B;B;B	0.13145	0.004;0.007;0.004;0.004	B;B;B;B	0.13407	0.003;0.009;0.003;0.003	T	0.27706	-1.0066	10	0.09843	T	0.71	1.083	5.5613	0.17146	0.0984:0.0:0.5531:0.3485	.	79;41;41;41	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	Y	41;79	ENSP00000267485:H41Y	ENSP00000267485:H41Y	H	-	1	0	C14orf37	57675709	0.000000	0.05858	0.004000	0.12327	0.500000	0.33767	0.622000	0.24433	0.126000	0.18424	0.655000	0.94253	CAT	-	C14orf37	-	NULL		0.483	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	0	0		97	97		0.00		G	NM_001001872		58605956	-1	41		25		tier1	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	62.12		SNP	0.009	A	41	25
CSMD1	64478	genome.wustl.edu	37	8	3226824	3226824	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:3226824G>A	ENST00000520002.1	-	20	3409	c.2854C>T	c.(2854-2856)Cca>Tca	p.P952S	CSMD1_ENST00000537824.1_Missense_Mutation_p.P951S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P951S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P951S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P952S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P952S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P952S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	952	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAGAGTTTGGATAAAAATCT	0.393													ENSG00000183117																																					0													70.0	67.0	68.0					8																	3226824		1836	4080	5916	SO:0001583	missense	0			-			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2854C>T	8.37:g.3226824G>A	ENSP00000430733:p.Pro952Ser		Q0H0J5|Q96QU9|Q96RM4	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.P952S	ENST00000520002.1	37	c.2854		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.386214|4.386214	0.82902|0.82902	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.33438|.	1.41;1.41;1.41;1.41;1.41|.	5.2|5.2	5.2|5.2	0.72013|0.72013	CUB (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72211|0.72211	0.3432|0.3432	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;0.995;0.707|.	D;D;B|.	0.87578|.	0.998;0.951;0.396|.	T|T	0.70124|0.70124	-0.4958|-0.4958	10|5	0.45353|.	T|.	0.12|.	.|.	18.7526|18.7526	0.91821|0.91821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	952;952;952|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|F	952;952;814;951;951;951|431	ENSP00000383047:P952S;ENSP00000430733:P952S;ENSP00000441462:P951S;ENSP00000446243:P951S;ENSP00000441675:P951S|.	ENSP00000320445:P814S|.	P|S	-|-	1|2	0|0	CSMD1|CSMD1	3214231|3214231	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.726000|0.726000	0.41606|0.41606	9.565000|9.565000	0.98154|0.98154	2.405000|2.405000	0.81733|0.81733	0.557000|0.557000	0.71058|0.71058	CCA|TCC	-	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.393	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	0	0		122	122		0.00		G	NM_033225		3226824	-1	22		67		tier1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	24.72		SNP	1.000	A	22	67
VDAC1	7416	genome.wustl.edu	37	5	133308428	133308428	+	3'UTR	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:133308428A>C	ENST00000265333.3	-	0	1130				VDAC1_ENST00000395044.3_3'UTR|VDAC1_ENST00000395047.2_3'UTR	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1						anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	ATGCTGCAAAATAGTTTAAAA	0.368													ENSG00000213585																									NSCLC(127;1776 1806 35523 41489 48154)												0													13.0	14.0	13.0					5																	133308428		2174	4259	6433	SO:0001624	3_prime_UTR_variant	0			-		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.*34T>G	5.37:g.133308428A>C			B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	R	SNP	-	NULL	ENST00000265333.3	37	NULL	CCDS4168.1	5																																																																																			-	VDAC1	-	-		0.368	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	0	0		52	52		0.00		A			133308428	-1	27		45		tier1	no_errors	ENST00000492324	ensembl	human	known	74_37	rna	37.50		SNP	1.000	C	27	45
TCN1	6947	genome.wustl.edu	37	11	59629151	59629151	+	Silent	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:59629151T>A	ENST00000257264.3	-	4	509	c.405A>T	c.(403-405)gcA>gcT	p.A135A	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	135	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCCATTGTGTGCTTCTAGAA	0.428													ENSG00000134827																																					0													83.0	80.0	81.0					11																	59629151		2201	4295	6496	SO:0001819	synonymous_variant	0			-	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.405A>T	11.37:g.59629151T>A			A8KAC5|Q8WV77	Silent	SNP	pfam_Cbl-bd_transpt_euk	p.A135	ENST00000257264.3	37	c.405	CCDS7978.1	11																																																																																			-	TCN1	-	pfam_Cbl-bd_transpt_euk		0.428	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCN1	HGNC	protein_coding	OTTHUMT00000394503.1	0	0		33	33		0.00		T	NM_001062		59629151	-1	16		31		tier1	no_errors	ENST00000257264	ensembl	human	known	74_37	silent	34.04		SNP	0.040	A	16	31
RERE	473	genome.wustl.edu	37	1	8601374	8601374	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:8601374C>T	ENST00000337907.3	-	8	1363	c.729G>A	c.(727-729)ggG>ggA	p.G243G	RERE_ENST00000400907.2_Silent_p.G243G|RERE_ENST00000400908.2_Silent_p.G243G	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	243	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGTTACACTTCCCTCTGGGAA	0.398													ENSG00000142599																																					0													65.0	74.0	71.0					1																	8601374		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.729G>A	1.37:g.8601374C>T			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.G243	ENST00000337907.3	37	c.729	CCDS95.1	1																																																																																			-	RERE	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.398	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	0	0		44	44		0.00		C			8601374	-1	21		19		tier1	no_errors	ENST00000337907	ensembl	human	known	74_37	silent	52.50		SNP	1.000	T	21	19
C1orf27	54953	genome.wustl.edu	37	1	186363086	186363086	+	Missense_Mutation	SNP	C	C	T	rs556420947		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:186363086C>T	ENST00000287859.6	+	9	844	c.719C>T	c.(718-720)tCt>tTt	p.S240F	C1orf27_ENST00000419367.3_Missense_Mutation_p.S208F|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	240						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CAGAAAAAATCTTCTAGAGGA	0.274													ENSG00000157181																																					0													25.0	24.0	24.0					1																	186363086		1662	3736	5398	SO:0001583	missense	0			-	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.719C>T	1.37:g.186363086C>T	ENSP00000287859:p.Ser240Phe		B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	NULL	p.S240F	ENST00000287859.6	37	c.719	CCDS53448.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611429	0.46631	.	.	ENSG00000157181	ENST00000419367;ENST00000432021;ENST00000287859	T;T	0.50548	0.74;0.78	3.56	3.56	0.40772	.	0.256502	0.27064	U	0.021116	T	0.58061	0.2096	L	0.53249	1.67	0.35901	D	0.830363	D;D	0.76494	0.999;0.996	D;D	0.69479	0.964;0.914	T	0.66440	-0.5923	10	0.56958	D	0.05	.	8.4191	0.32690	0.0:0.8828:0.0:0.1172	.	208;240	E9PFR7;Q5SWX8	.;ODR4_HUMAN	F	208;240;240	ENSP00000395084:S208F;ENSP00000287859:S240F	ENSP00000287859:S240F	S	+	2	0	C1orf27	184629709	0.998000	0.40836	0.664000	0.29753	0.972000	0.66771	2.979000	0.49313	1.548000	0.49413	0.448000	0.29417	TCT	-	C1orf27	-	NULL		0.274	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C1orf27	HGNC	protein_coding	OTTHUMT00000086352.2	0	0		59	59		0.00		C	NM_017847		186363086	+1	20		46		tier1	no_errors	ENST00000287859	ensembl	human	known	74_37	missense	30.30		SNP	0.526	T	20	46
SHROOM3	57619	genome.wustl.edu	37	4	77660843	77660843	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:77660843G>A	ENST00000296043.6	+	5	2470	c.1517G>A	c.(1516-1518)gGa>gAa	p.G506E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	506					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)			GCCCCTCAGGGAGCATGCAAC	0.547													ENSG00000138771																																					0													107.0	109.0	108.0					4																	77660843		2203	4300	6503	SO:0001583	missense	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.1517G>A	4.37:g.77660843G>A	ENSP00000296043:p.Gly506Glu		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G506E	ENST00000296043.6	37	c.1517	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	5.431	0.264572	0.10294	.	.	ENSG00000138771	ENST00000296043	T	0.19250	2.16	5.59	0.887	0.19200	.	0.894418	0.09476	N	0.797001	T	0.19967	0.0480	M	0.65975	2.015	0.09310	N	1	B;B;B	0.18741	0.024;0.013;0.03	B;B;B	0.15052	0.007;0.012;0.012	T	0.38415	-0.9662	10	0.66056	D	0.02	-2.847	2.0529	0.03574	0.2875:0.3289:0.2758:0.1078	.	330;506;284	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	E	506	ENSP00000296043:G506E	ENSP00000296043:G506E	G	+	2	0	SHROOM3	77879867	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.889000	0.04144	0.310000	0.22990	0.563000	0.77884	GGA	-	SHROOM3	-	NULL		0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	0	0		27	27		0.00		G	NM_020859		77660843	+1	9		32		tier1	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	21.95		SNP	0.000	A	9	32
FKBP15	23307	genome.wustl.edu	37	9	115962207	115962207	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:115962207C>T	ENST00000238256.3	-	7	652	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	179					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AGCACTGCATCCAGGGAAGAG	0.458													ENSG00000119321																																					0													60.0	57.0	58.0					9																	115962207		2016	4184	6200	SO:0001583	missense	0			-	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.535G>A	9.37:g.115962207C>T	ENSP00000238256:p.Asp179Asn		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.D179N	ENST00000238256.3	37	c.535	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710704	0.68730	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.44881	0.91;0.91;0.91	5.95	5.06	0.68205	.	.	.	.	.	T	0.40839	0.1133	L	0.54323	1.7	0.39263	D	0.964258	B;B;B	0.26318	0.033;0.146;0.019	B;B;B	0.27715	0.06;0.082;0.027	T	0.40440	-0.9563	9	0.56958	D	0.05	-3.7995	12.9858	0.58592	0.0:0.9223:0.0:0.0777	.	179;179;179	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	N	204;179;204	ENSP00000416158:D204N;ENSP00000238256:D179N;ENSP00000415733:D204N	ENSP00000238256:D179N	D	-	1	0	FKBP15	115002028	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.195000	0.65131	1.531000	0.49152	-0.140000	0.14226	GAT	-	FKBP15	-	NULL		0.458	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		0	0		49	49		0.00		C	NM_015258		115962207	-1	21		44		tier1	no_errors	ENST00000238256	ensembl	human	known	74_37	missense	32.31		SNP	1.000	T	21	44
ZNF700	90592	genome.wustl.edu	37	19	12060728	12060728	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12060728G>A	ENST00000254321.5	+	4	2032	c.1889G>A	c.(1888-1890)aGa>aAa	p.R630K	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.R612K|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R630K(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AAAGCCTTCAGATCTGCCTCA	0.438													ENSG00000196757																																					1	Substitution - Missense(1)	lung(1)											84.0	83.0	83.0					19																	12060728		2203	4300	6503	SO:0001583	missense	0			-	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1889G>A	19.37:g.12060728G>A	ENSP00000254321:p.Arg630Lys		B9EGU4	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.R630K	ENST00000254321.5	37	c.1889	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	5.878	0.346059	0.11126	.	.	ENSG00000196757	ENST00000254321	T	0.07114	3.22	0.563	-0.585	0.11698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02420	-0.555	0.09310	N	1	P	0.43578	0.811	P	0.46796	0.527	T	0.25916	-1.0118	9	0.30854	T	0.27	.	1.8343	0.03136	0.4584:0.0:0.2649:0.2766	.	630	Q9H0M5	ZN700_HUMAN	K	630	ENSP00000254321:R630K	ENSP00000254321:R630K	R	+	2	0	ZNF700	11921728	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.676000	0.00840	-0.280000	0.09154	0.313000	0.20887	AGA	-	ZNF700	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	0	0		63	63		0.00		G	NM_144566		12060728	+1	14		58		tier1	no_errors	ENST00000254321	ensembl	human	known	74_37	missense	19.44		SNP	0.000	A	14	58
AHCTF1	25909	genome.wustl.edu	37	1	247015265	247015265	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247015265G>A	ENST00000391829.2	-	33	4687				AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Intron|AHCTF1_ENST00000366508.1_Intron			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1						cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATAAACCATGAAATTCCTAA	0.458													ENSG00000153207																									Colon(145;197 1800 4745 15099 26333)												0																																										SO:0001627	intron_variant	0			-		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4564-521C>T	1.37:g.247015265G>A			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	R	SNP	-	NULL	ENST00000391829.2	37	NULL		1																																																																																			-	AHCTF1	-	-		0.458	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		0	0		95	95		0.00		G	NM_015446		247015265	-1	40		118		tier1	no_errors	ENST00000483900	ensembl	human	known	74_37	rna	25.32		SNP	1.000	A	40	118
CASKIN2	57513	genome.wustl.edu	37	17	73498253	73498253	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73498253C>T	ENST00000321617.3	-	18	3488	c.2902G>A	c.(2902-2904)Ggc>Agc	p.G968S	CASKIN2_ENST00000433559.2_Missense_Mutation_p.G886S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	968	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGGGGGGCCAGCGGGCTTC	0.672													ENSG00000177303																																					0													15.0	23.0	21.0					17																	73498253		1767	3584	5351	SO:0001583	missense	0			-	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2902G>A	17.37:g.73498253C>T	ENSP00000325355:p.Gly968Ser		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.G968S	ENST00000321617.3	37	c.2902	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450152	0.43531	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70749	-0.51;-0.33	5.0	2.97	0.34412	.	0.148815	0.31199	N	0.008069	T	0.57814	0.2079	L	0.38838	1.175	0.44966	D	0.997985	B	0.16166	0.016	B	0.10450	0.005	T	0.51957	-0.8639	10	0.40728	T	0.16	.	9.6862	0.40100	0.1407:0.7857:0.0:0.0736	.	968	Q8WXE0	CSKI2_HUMAN	S	968;886	ENSP00000325355:G968S;ENSP00000406963:G886S	ENSP00000325355:G968S	G	-	1	0	CASKIN2	71009848	0.884000	0.30299	0.143000	0.22291	0.085000	0.17905	2.684000	0.46951	0.669000	0.31146	0.591000	0.81541	GGC	-	CASKIN2	-	NULL		0.672	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	0	0		26	26		0.00		C	NM_020753		73498253	-1	15		20		tier1	no_errors	ENST00000321617	ensembl	human	known	74_37	missense	42.86		SNP	0.219	T	15	20
CUL9	23113	genome.wustl.edu	37	6	43152478	43152478	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:43152478C>T	ENST00000252050.4	+	2	514	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	CUL9_ENST00000354495.3_Missense_Mutation_p.H144Y|CUL9_ENST00000372647.2_Missense_Mutation_p.H144Y	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	144					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						CGCTGTGCTTCACACCATCCA	0.622													ENSG00000112659																																					0													63.0	61.0	62.0					6																	43152478		2203	4300	6503	SO:0001583	missense	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.430C>T	6.37:g.43152478C>T	ENSP00000252050:p.His144Tyr		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	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.H144Y	ENST00000252050.4	37	c.430	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916845	0.33815	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.36699	1.24;1.24;1.24	3.91	3.91	0.45181	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	L	0.29908	0.895	0.24804	N	0.992682	D;D;D	0.71674	0.989;0.989;0.998	P;P;P	0.59221	0.737;0.737;0.854	T	0.03608	-1.1020	10	0.87932	D	0	-21.123	9.8848	0.41255	0.3613:0.6387:0.0:0.0	.	144;144;144	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	Y	144	ENSP00000252050:H144Y;ENSP00000346490:H144Y;ENSP00000361730:H144Y	ENSP00000252050:H144Y	H	+	1	0	CUL9	43260456	0.952000	0.32445	0.998000	0.56505	0.621000	0.37620	2.097000	0.41748	2.174000	0.68829	0.313000	0.20887	CAC	-	CUL9	-	superfamily_ARM-type_fold		0.622	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	0	0		35	35		0.00		C	NM_015089		43152478	+1	12		17		tier1	no_errors	ENST00000252050	ensembl	human	known	74_37	missense	41.38		SNP	0.999	T	12	17
BCL9L	283149	genome.wustl.edu	37	11	118769682	118769682	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118769682G>A	ENST00000334801.3	-	8	4906	c.3942C>T	c.(3940-3942)atC>atT	p.I1314I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1314	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGTGGGCCGGATCACCTCGC	0.642													ENSG00000186174																																					0													49.0	50.0	50.0					11																	118769682		2200	4295	6495	SO:0001819	synonymous_variant	0			-	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3942C>T	11.37:g.118769682G>A			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.I1314	ENST00000334801.3	37	c.3942	CCDS8403.1	11																																																																																			-	BCL9L	-	NULL		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	0	0		60	60		0.00		G	NM_182557		118769682	-1	26		45		tier1	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	36.11		SNP	1.000	A	26	45
ZMYM3	9203	genome.wustl.edu	37	X	70469919	70469919	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70469919G>A	ENST00000353904.2	-	6	1395	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	ZMYM3_ENST00000373998.1_Missense_Mutation_p.P403L|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P307S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P405L|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P403L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P405L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P403L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P405L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	403					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCGTCGGCGGGATCCCCAGA	0.617													ENSG00000147130																																					0													37.0	34.0	35.0					X																	70469919		2203	4300	6503	SO:0001583	missense	0			-	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1208C>T	X.37:g.70469919G>A	ENSP00000343909:p.Pro403Leu		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.P405L	ENST00000353904.2	37	c.1214	CCDS14409.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.444|9.444	1.088781|1.088781	0.20390|0.20390	.|.	.|.	ENSG00000147130|ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981|ENST00000373978	T;T;T;T;T;T;T|.	0.48836|.	1.49;0.9;1.49;1.49;1.49;0.8;0.8|.	4.26|4.26	3.4|3.4	0.38934|0.38934	.|.	0.484198|0.484198	0.19071|0.19071	N|N	0.123506|0.123506	T|T	0.26195|0.26195	0.0639|0.0639	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999998|0.999998	P;P;B;B|.	0.39352|.	0.669;0.669;0.007;0.008|.	B;B;B;B|.	0.34931|.	0.192;0.192;0.004;0.007|.	T|T	0.13124|0.13124	-1.0521|-1.0521	10|7	0.27785|0.37606	T|T	0.31|0.19	-2.1079|-2.1079	7.5585|7.5585	0.27837|0.27837	0.092:0.1617:0.7464:0.0|0.092:0.1617:0.7464:0.0	.|.	405;403;403;403|.	A6NL54;Q96E26;Q14202-2;Q14202|.	.;.;.;ZMYM3_HUMAN|.	L|S	403;403;403;405;405;405;403|307	ENSP00000322845:P403L;ENSP00000363110:P403L;ENSP00000343909:P403L;ENSP00000363096:P405L;ENSP00000363100:P405L;ENSP00000363094:P405L;ENSP00000363093:P403L|.	ENSP00000322845:P403L|ENSP00000363090:P307S	P|P	-|-	2|1	0|0	ZMYM3|ZMYM3	70386644|70386644	0.964000|0.964000	0.33143|0.33143	0.681000|0.681000	0.30009|0.30009	0.891000|0.891000	0.51852|0.51852	2.125000|2.125000	0.42016|0.42016	0.813000|0.813000	0.34350|0.34350	0.468000|0.468000	0.43344|0.43344	CCC|CCG	-	ZMYM3	-	NULL		0.617	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	0	0		25	25		0.00		G	NM_201599		70469919	-1	35		16		tier1	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	68.63		SNP	0.047	A	35	16
EVPL	2125	genome.wustl.edu	37	17	74007888	74007888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:74007888G>A	ENST00000301607.3	-	20	2786	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.R867*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	845	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGAGCCACTCGGGGTCTCTTG	0.622													ENSG00000167880																																					0													29.0	32.0	31.0					17																	74007888		2203	4300	6503	SO:0001587	stop_gained	0			-	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2533C>T	17.37:g.74007888G>A	ENSP00000301607:p.Arg845*		A0AUV5	Nonsense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R845*	ENST00000301607.3	37	c.2533	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.291506	0.99127	.	.	ENSG00000167880	ENST00000301607	.	.	.	5.49	3.46	0.39613	.	0.865038	0.10312	N	0.689880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1919	8.1967	0.31400	0.0792:0.0:0.7586:0.1622	.	.	.	.	X	845	.	ENSP00000301607:R845X	R	-	1	2	EVPL	71519483	0.480000	0.25933	0.981000	0.43875	0.970000	0.65996	2.752000	0.47516	1.259000	0.44117	0.655000	0.94253	CGA	-	EVPL	-	NULL		0.622	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	0	0		27	27		0.00		G	NM_001988		74007888	-1	13		18		tier1	no_errors	ENST00000301607	ensembl	human	known	74_37	nonsense	41.94		SNP	0.444	A	13	18
UNKL	64718	genome.wustl.edu	37	16	1419970	1419970	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1419970G>A	ENST00000389221.4	-	12	1576				UNKL_ENST00000402641.2_Intron|UNKL_ENST00000508903.2_Intron|UNKL_ENST00000397464.1_Intron|UNKL_ENST00000391893.2_Missense_Mutation_p.P13L|UNKL_ENST00000403703.1_Intron|UNKL_ENST00000248104.7_Missense_Mutation_p.P13L	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				agcgagactcggtctGCGGCG	0.622													ENSG00000059145																																					0													79.0	98.0	92.0					16																	1419970		692	1591	2283	SO:0001627	intron_variant	0			-	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1576+160C>T	16.37:g.1419970G>A			B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfscan_Znf_RING	p.P13L	ENST00000389221.4	37	c.38	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	g	1.670	-0.509304	0.04231	.	.	ENSG00000059145	ENST00000248104;ENST00000391893	.	.	.	.	.	.	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	5	0.87932	D	0	.	.	.	.	.	13	Q9H9P5-3	.	L	13	.	ENSP00000248104:P13L	P	-	2	0	UNKL	1359971	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	-2.863000	0.00725	-3.416000	0.00167	-3.398000	0.00039	CCG	-	UNKL	-	NULL		0.622	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		0	0		38	38		0.00		G	NM_001037125		1419970	-1	13		36		tier1	no_errors	ENST00000248104	ensembl	human	known	74_37	missense	26.00		SNP	0.008	A	13	36
IL1RAPL1	11141	genome.wustl.edu	37	X	29959898	29959898	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:29959898A>G	ENST00000378993.1	+	9	1861	c.1188A>G	c.(1186-1188)gaA>gaG	p.E396E	IL1RAPL1_ENST00000302196.4_Silent_p.E396E	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	396					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGGAGCTGAAGAGCTCGATG	0.373													ENSG00000169306																																					0													161.0	131.0	141.0					X																	29959898		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1188A>G	X.37:g.29959898A>G			A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.E396	ENST00000378993.1	37	c.1188	CCDS14218.1	X																																																																																			-	IL1RAPL1	-	superfamily_TIR_dom		0.373	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	0	0		37	37		0.00		A	NM_014271		29959898	+1	17		33		tier1	no_errors	ENST00000302196	ensembl	human	known	74_37	silent	34.00		SNP	0.997	G	17	33
BANK1	55024	genome.wustl.edu	37	4	102951401	102951401	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:102951401A>G	ENST00000322953.4	+	10	2153	c.1879A>G	c.(1879-1881)Act>Gct	p.T627A	BANK1_ENST00000444316.2_Missense_Mutation_p.T597A|BANK1_ENST00000504592.1_Missense_Mutation_p.T612A|BANK1_ENST00000508653.1_Missense_Mutation_p.T494A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Missense_Mutation_p.T494A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	627					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAAAGAGGAAACTACACCTTA	0.388													ENSG00000153064																																					0													83.0	85.0	84.0					4																	102951401		2203	4300	6503	SO:0001583	missense	0			-	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1879A>G	4.37:g.102951401A>G	ENSP00000320509:p.Thr627Ala		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.T627A	ENST00000322953.4	37	c.1879	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079480	0.36662	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.86	3.46	0.39613	.	0.353337	0.28322	N	0.015769	T	0.32406	0.0828	N	0.21448	0.665	0.23210	N	0.998111	B;B;B	0.19583	0.037;0.037;0.021	B;B;B	0.19148	0.024;0.024;0.013	T	0.20174	-1.0283	10	0.11182	T	0.66	.	8.1539	0.31156	0.8422:0.0:0.1578:0.0	.	494;627;612	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	A	612;627;494;494;597	ENSP00000421443:T612A;ENSP00000320509:T627A;ENSP00000412748:T494A;ENSP00000422314:T494A;ENSP00000388817:T597A	ENSP00000320509:T627A	T	+	1	0	BANK1	103170424	0.991000	0.36638	0.712000	0.30502	0.933000	0.57130	2.110000	0.41873	0.495000	0.27882	-0.326000	0.08463	ACT	-	BANK1	-	NULL		0.388	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	0	0		77	77		0.00		A	NM_017935		102951401	+1	25		71		tier1	no_errors	ENST00000322953	ensembl	human	known	74_37	missense	26.04		SNP	0.916	G	25	71
GRIK5	2901	genome.wustl.edu	37	19	42566692	42566692	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42566692G>A	ENST00000262895.3	-	4	455	c.456C>T	c.(454-456)atC>atT	p.I152I	GRIK5_ENST00000301218.4_Silent_p.I152I|GRIK5_ENST00000593562.1_Silent_p.I152I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	152					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				AGGACTTGAGGATTCGGGAGA	0.582													ENSG00000105737																																					0													89.0	87.0	87.0					19																	42566692		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.456C>T	19.37:g.42566692G>A			Q8WWG8	Silent	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.I152	ENST00000262895.3	37	c.456	CCDS12595.1	19																																																																																			-	GRIK5	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.582	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	0	0		41	41		0.00		G			42566692	-1	26		54		tier1	no_errors	ENST00000301218	ensembl	human	known	74_37	silent	32.50		SNP	1.000	A	26	54
GBF1	8729	genome.wustl.edu	37	10	104122337	104122337	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:104122337C>T	ENST00000369983.3	+	15	2049	c.1789C>T	c.(1789-1791)Ctc>Ttc	p.L597F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	597					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGCTAAAGTCCTCAACAGCCT	0.502													ENSG00000107862																																					0													170.0	147.0	155.0					10																	104122337		2203	4300	6503	SO:0001583	missense	0			-	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1789C>T	10.37:g.104122337C>T	ENSP00000359000:p.Leu597Phe		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.L597F	ENST00000369983.3	37	c.1789	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496322	0.44352	.	.	ENSG00000107862	ENST00000369983	T	0.12039	2.72	5.67	3.74	0.42951	.	0.180592	0.50627	D	0.000116	T	0.15955	0.0384	L	0.59436	1.845	0.46044	D	0.998837	P;P;P	0.49961	0.883;0.887;0.93	B;B;B	0.42319	0.179;0.179;0.383	T	0.02646	-1.1129	10	0.62326	D	0.03	-9.9206	11.4562	0.50183	0.1272:0.8049:0.0:0.0679	.	597;597;597	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	597	ENSP00000359000:L597F	ENSP00000359000:L597F	L	+	1	0	GBF1	104112327	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	1.865000	0.39479	1.471000	0.48121	0.655000	0.94253	CTC	-	GBF1	-	NULL		0.502	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	0	0		48	48		0.00		C			104122337	+1	5		41		tier1	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	10.87		SNP	1.000	T	5	41
WHSC1	7468	genome.wustl.edu	37	4	1957789	1957789	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:1957789C>T	ENST00000382895.3	+	17	3186	c.2755C>T	c.(2755-2757)Cct>Tct	p.P919S	WHSC1_ENST00000508803.1_Missense_Mutation_p.P919S|WHSC1_ENST00000382892.2_Missense_Mutation_p.P919S|WHSC1_ENST00000382891.5_Missense_Mutation_p.P919S|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.P267S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	919	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGAGAATTCCCTGTGTTTTT	0.473			T	IGH@	MM								ENSG00000109685																												Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													150.0	176.0	167.0					4																	1957789		2203	4300	6503	SO:0001583	missense	0			-	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2755C>T	4.37:g.1957789C>T	ENSP00000372351:p.Pro919Ser		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.P919S	ENST00000382895.3	37	c.2755	CCDS33940.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088548|5.088548	0.94100|0.94100	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000514329|ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	.|T;T;T;T;T	.|0.70631	.|-0.5;-0.5;-0.5;-0.5;-0.5	5.88|5.88	5.88|5.88	0.94601|0.94601	.|PWWP (3);	0.000000|0.000000	0.64402|0.64402	D|D	0.000020|0.000020	D|D	0.82458|0.82458	0.5041|0.5041	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.992;0.999	T|T	0.78242|0.78242	-0.2280|-0.2280	6|10	.|0.31617	.|T	.|0.26	.|.	20.2187|20.2187	0.98312|0.98312	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|267;919	.|A2A2T2;O96028	.|.;NSD2_HUMAN	L|S	242|919;919;919;919;267	.|ENSP00000423972:P919S;ENSP00000372347:P919S;ENSP00000372348:P919S;ENSP00000372351:P919S;ENSP00000372344:P267S	.|ENSP00000372344:P267S	P|P	+|+	2|1	0|0	WHSC1|WHSC1	1927587|1927587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.680000|7.680000	0.84062|0.84062	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CCC|CCT	-	WHSC1	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom		0.473	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	0	0		44	44		0.00		C	NM_133330		1957789	+1	17		32		tier1	no_errors	ENST00000382891	ensembl	human	known	74_37	missense	34.00		SNP	1.000	T	17	32
BAZ2A	11176	genome.wustl.edu	37	12	57005382	57005382	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57005382C>T	ENST00000551812.1	-	7	1844	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	BAZ2A_ENST00000549884.1_Missense_Mutation_p.E549K|BAZ2A_ENST00000179765.5_Missense_Mutation_p.E519K|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E521K	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	551	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGACGAACTTCTTCTGGGGTA	0.423													ENSG00000076108																																					0													89.0	83.0	85.0					12																	57005382		1893	4129	6022	SO:0001583	missense	0			-	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1651G>A	12.37:g.57005382C>T	ENSP00000446880:p.Glu551Lys		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_D-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_D-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_D-bd,smart_AT_hook_D-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_D-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E551K	ENST00000551812.1	37	c.1651	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369703	0.82573	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93	4.84	4.84	0.62591	Methyl-CpG DNA binding (3);DNA-binding, integrase-type (1);	0.061484	0.64402	D	0.000004	D	0.99013	0.9663	L	0.36672	1.1	0.43203	D	0.995052	D;D	0.69078	0.974;0.997	D;D	0.79108	0.969;0.992	D	0.98292	1.0514	10	0.72032	D	0.01	.	13.0302	0.58837	0.0:0.8375:0.1624:0.0	.	549;551	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	K	521;519;551;549	ENSP00000368754:E521K;ENSP00000179765:E519K;ENSP00000446880:E551K;ENSP00000447941:E549K	ENSP00000179765:E519K	E	-	1	0	BAZ2A	55291649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.073000	0.50057	2.687000	0.91594	0.462000	0.41574	GAA	-	BAZ2A	-	pfam_Methyl_CpG_D-bd,superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd		0.423	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	0	0		100	100		0.00		C	NM_013449		57005382	-1	59		72		tier1	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	45.04		SNP	1.000	T	59	72
GPR89B	51463	genome.wustl.edu	37	1	147416171	147416171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:147416171G>A	ENST00000314163.7	+	5	518	c.374G>A	c.(373-375)tGg>tAg	p.W125*		NM_016334.3	NP_057418.1	P0CG08	GPHRB_HUMAN	G protein-coupled receptor 89B	125					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	voltage-gated ion channel activity (GO:0005244)			large_intestine(1)	1	all_hematologic(923;0.0276)					TATTTCTTCTGGAAACTAGGA	0.403													ENSG00000188092																																					0													7.0	11.0	9.0					1																	147416171		1725	3580	5305	SO:0001587	stop_gained	0			-	U78723	CCDS930.1	1q21.1	2014-06-19	2007-06-06	2007-06-06	ENSG00000188092	ENSG00000188092			13840	protein-coding gene	gene with protein product		612806	"""G protein-coupled receptor 89"", ""G protein-coupled receptor 89C"""	GPR89, GPR89C		11042152	Standard	NM_016334		Approved	SH120	uc001epv.4	P0CG08	OTTHUMG00000013452	ENST00000314163.7:c.374G>A	1.37:g.147416171G>A	ENSP00000358233:p.Trp125*		A6NN37|B2RUV3|B3KMN3|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Nonsense_Mutation	SNP	pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom	p.W125*	ENST00000314163.7	37	c.374	CCDS930.1	1	.	.	.	.	.	.	.	.	.	.	g	37	6.448098	0.97577	.	.	ENSG00000188092	ENST00000314163	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.636	16.1344	0.81475	0.0:0.0:1.0:0.0	.	.	.	.	X	125	.	ENSP00000358233:W125X	W	+	2	0	GPR89B	145882795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.512000	0.98008	2.142000	0.66516	0.644000	0.83932	TGG	-	GPR89B	-	NULL		0.403	GPR89B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR89B	HGNC	protein_coding	OTTHUMT00000037481.2	0	0		62	62		0.00		G	NM_016334		147416171	+1	32		40		tier1	no_errors	ENST00000314163	ensembl	human	known	74_37	nonsense	44.44		SNP	1.000	A	32	40
FRMD1	79981	genome.wustl.edu	37	6	168463404	168463404	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:168463404G>A	ENST00000283309.6	-	7	935				FRMD1_ENST00000440994.2_Intron|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Intron	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1							cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGCAGCTGCGGAGCACGGTCC	0.687													ENSG00000153303																									GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												0																																										SO:0001627	intron_variant	0			-		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.870+169C>T	6.37:g.168463404G>A			B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	R	SNP	-	NULL	ENST00000283309.6	37	NULL	CCDS5306.1	6																																																																																			-	FRMD1	-	-		0.687	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	HGNC	protein_coding	OTTHUMT00000362513.2	0	0		33	33		0.00		G	NM_024919		168463404	-1	22		71		tier1	no_errors	ENST00000432403	ensembl	human	known	74_37	rna	23.66		SNP	0.556	A	22	71
RP11-51O6.1	0	genome.wustl.edu	37	16	61089769	61089769	+	RNA	SNP	A	A	G	rs536442008		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:61089769A>G	ENST00000591758.1	-	0	99																											CGAGGGTTCAACCTCGAGGGT	0.473													ENSG00000224631	A|||	1	0.000199681	0.0	0.0	5008	,	,		17433	0.001		0.0	False		,,,				2504	0.0																0																																												0			-																													16.37:g.61089769A>G				R	SNP	-	NULL	ENST00000591758.1	37	NULL		16																																																																																			-	RP11-51O6.1	-	-		0.473	RP11-51O6.1-002	KNOWN	basic	processed_transcript	ENSG00000224631	Clone_based_vega_gene	pseudogene	OTTHUMT00000460612.1	0	0		46	46		0.00		A			61089769	-1	17		25		tier1	no_errors	ENST00000591758	ensembl	human	known	74_37	rna	40.48		SNP	1.000	G	17	25
OR6C76	390326	genome.wustl.edu	37	12	55820153	55820153	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55820153G>A	ENST00000328314.3	+	1	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G39E(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTGTTACTGGAAATCTAACT	0.423													ENSG00000185821																																					1	Substitution - Missense(1)	lung(1)											174.0	168.0	170.0					12																	55820153		2203	4300	6503	SO:0001583	missense	0			-		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.116G>A	12.37:g.55820153G>A	ENSP00000328402:p.Gly39Glu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G39E	ENST00000328314.3	37	c.116	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	g	14.81	2.646349	0.47258	.	.	ENSG00000185821	ENST00000328314	T	0.04360	3.64	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.167830	0.27563	U	0.018811	T	0.11196	0.0273	M	0.78801	2.425	0.39792	D	0.972455	P	0.44578	0.838	B	0.41917	0.37	T	0.06954	-1.0798	10	0.72032	D	0.01	.	17.0151	0.86416	0.0:0.0:1.0:0.0	.	39	A6NM76	O6C76_HUMAN	E	39	ENSP00000328402:G39E	ENSP00000328402:G39E	G	+	2	0	OR6C76	54106420	0.971000	0.33674	0.766000	0.31476	0.501000	0.33797	2.491000	0.45303	2.405000	0.81733	0.598000	0.82781	GGA	-	OR6C76	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.423	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	0	0		51	51		0.00		G	NM_001005183		55820153	+1	29		17		tier1	no_errors	ENST00000328314	ensembl	human	known	74_37	missense	63.04		SNP	0.995	A	29	17
JMY	133746	genome.wustl.edu	37	5	78586063	78586063	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:78586063G>T	ENST00000396137.4	+	3	1788	c.1326G>T	c.(1324-1326)aaG>aaT	p.K442N		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	442					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TTACTGTCAAGTACTTTGAAA	0.358													ENSG00000152409																																					0													98.0	96.0	97.0					5																	78586063		1847	4093	5940	SO:0001583	missense	0			-	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1326G>T	5.37:g.78586063G>T	ENSP00000379441:p.Lys442Asn		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	pfscan_WH2_dom	p.K442N	ENST00000396137.4	37	c.1326	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306847	0.40795	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.12774	2.65	5.32	0.418	0.16429	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	L	0.33137	0.985	0.46874	D	0.999239	D	0.89917	1.0	D	0.87578	0.998	T	0.12811	-1.0533	10	0.06625	T	0.88	.	9.7118	0.40249	0.6056:0.0:0.3944:0.0	.	442	Q8N9B5	JMY_HUMAN	N	442	ENSP00000379441:K442N	ENSP00000282259:K442N	K	+	3	2	JMY	78621819	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.737000	0.26144	0.338000	0.23692	-0.312000	0.09012	AAG	-	JMY	-	NULL		0.358	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	0	0		91	91		0.00		G	NM_152405		78586063	+1	37		72		tier1	no_errors	ENST00000396137	ensembl	human	known	74_37	missense	33.94		SNP	0.997	T	37	72
ZNF471	57573	genome.wustl.edu	37	19	57036469	57036469	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57036469C>T	ENST00000308031.5	+	5	1166	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	ZNF471_ENST00000591537.1_Silent_p.D204D|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGGCAAAAGACCCTATGAATG	0.413													ENSG00000196263																									Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													50.0	54.0	53.0					19																	57036469		2203	4300	6503	SO:0001583	missense	0			-	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1033C>T	19.37:g.57036469C>T	ENSP00000309161:p.Pro345Ser		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	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.P345S	ENST00000308031.5	37	c.1033	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222316	0.58560	.	.	ENSG00000196263	ENST00000308031	T	0.28454	1.61	3.85	3.85	0.44370	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44850	0.1313	M	0.66378	2.025	0.80722	D	1	D	0.52996	0.957	P	0.52672	0.706	T	0.51301	-0.8723	9	0.62326	D	0.03	.	14.6793	0.69004	0.0:1.0:0.0:0.0	.	345	Q9BX82	ZN471_HUMAN	S	345	ENSP00000309161:P345S	ENSP00000309161:P345S	P	+	1	0	ZNF471	61728281	0.504000	0.26123	0.906000	0.35671	0.988000	0.76386	2.652000	0.46682	1.978000	0.57642	0.462000	0.41574	CCC	-	ZNF471	-	pfscan_Znf_C2H2		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	0	0		34	34		0.00		C	NM_020813		57036469	+1	16		21		tier1	no_errors	ENST00000308031	ensembl	human	known	74_37	missense	43.24		SNP	0.998	T	16	21
FBXO18	84893	genome.wustl.edu	37	10	5959430	5959430	+	Silent	SNP	G	G	A	rs534355995		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5959430G>A	ENST00000362091.4	+	11	1951	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L	FBXO18_ENST00000397269.3_Silent_p.L99L|FBXO18_ENST00000379999.5_Silent_p.L663L	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	612					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGCGGAAGCTGGGGGAGTGCA	0.572													ENSG00000134452																																					0													57.0	61.0	59.0					10																	5959430		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1836G>A	10.37:g.5959430G>A			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.L663	ENST00000362091.4	37	c.1989	CCDS7072.1	10																																																																																			-	FBXO18	-	superfamily_P-loop_NTPase		0.572	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	0	0		84	84		0.00		G	NM_032807		5959430	+1	35		68		tier1	no_errors	ENST00000379999	ensembl	human	known	74_37	silent	33.98		SNP	0.961	A	35	68
MERTK	10461	genome.wustl.edu	37	2	112767593	112767593	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:112767593G>A	ENST00000295408.4	+	15	2286	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	MERTK_ENST00000409780.1_Missense_Mutation_p.G501R|MERTK_ENST00000421804.2_Missense_Mutation_p.G677R			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	677	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATGAAATACGGGGACCTGCA	0.423													ENSG00000153208																																					0													200.0	197.0	198.0					2																	112767593		2203	4300	6503	SO:0001583	missense	0			-	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2029G>A	2.37:g.112767593G>A	ENSP00000295408:p.Gly677Arg		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G677R	ENST00000295408.4	37	c.2029	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.244370	0.95272	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	D;D;D	0.89939	-2.59;-2.59;-2.59	6.04	6.04	0.98038	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33895	U	0.004458	D	0.96460	0.8845	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96705	0.9521	10	0.87932	D	0	-30.8309	20.1899	0.98228	0.0:0.0:1.0:0.0	.	677	Q12866	MERTK_HUMAN	R	677;677;501	ENSP00000295408:G677R;ENSP00000389152:G677R;ENSP00000387277:G501R	ENSP00000295408:G677R	G	+	1	0	MERTK	112484064	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.011000	0.93618	2.873000	0.98535	0.563000	0.77884	GGG	-	MERTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.423	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	0	0		64	64		0.00		G			112767593	+1	38		41		tier1	no_errors	ENST00000295408	ensembl	human	known	74_37	missense	48.10		SNP	1.000	A	38	41
C16orf71	146562	genome.wustl.edu	37	16	4797014	4797014	+	Missense_Mutation	SNP	C	C	T	rs527716465		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4797014C>T	ENST00000299320.5	+	8	1746	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.S440F	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	423										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTCCTTCCTCCCTGGGGCTA	0.622													ENSG00000166246	C|||	1	0.000199681	0.0	0.0	5008	,	,		19672	0.001		0.0	False		,,,				2504	0.0																0													29.0	26.0	27.0					16																	4797014		2187	4295	6482	SO:0001583	missense	0			-	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1268C>T	16.37:g.4797014C>T	ENSP00000299320:p.Ser423Phe		Q8NCV0	Missense_Mutation	SNP	NULL	p.S423F	ENST00000299320.5	37	c.1268	CCDS10521.1	16	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361098	0.41801	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.37915	1.17	3.41	3.41	0.39046	.	0.817334	0.10229	N	0.699985	T	0.46521	0.1397	L	0.40543	1.245	0.09310	N	0.999999	D	0.69078	0.997	D	0.64237	0.923	T	0.27054	-1.0085	10	0.29301	T	0.29	-0.3094	11.0212	0.47720	0.0:1.0:0.0:0.0	.	423	Q8IYS4	CP071_HUMAN	F	423;178	ENSP00000299320:S423F	ENSP00000299320:S423F	S	+	2	0	C16orf71	4737015	0.000000	0.05858	0.010000	0.14722	0.111000	0.19643	0.286000	0.18902	1.818000	0.53035	0.561000	0.74099	TCC	-	C16orf71	-	NULL		0.622	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf71	HGNC	protein_coding	OTTHUMT00000251644.1	0	0		70	70		0.00		C	NM_139170		4797014	+1	27		61		tier1	no_errors	ENST00000299320	ensembl	human	known	74_37	missense	30.68		SNP	0.101	T	27	61
TNFSF15	9966	genome.wustl.edu	37	9	117555839	117555839	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:117555839C>T	ENST00000374045.4	-	2	333	c.220G>A	c.(220-222)Gga>Aga	p.G74R	TNFSF15_ENST00000374044.1_5'Flank|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	74					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						AACTCCTGTCCTTTTAGAGCC	0.418													ENSG00000181634																																					0													130.0	107.0	115.0					9																	117555839		2203	4300	6503	SO:0001583	missense	0			-	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.220G>A	9.37:g.117555839C>T	ENSP00000363157:p.Gly74Arg		Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF	p.G74R	ENST00000374045.4	37	c.220	CCDS6809.1	9	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247527	0.22880	.	.	ENSG00000181634	ENST00000374045	T	0.22743	1.94	5.02	5.02	0.67125	.	1.418940	0.04375	N	0.359839	T	0.17152	0.0412	N	0.14661	0.345	0.80722	D	1	B	0.22003	0.063	B	0.21360	0.034	T	0.03068	-1.1076	10	0.20519	T	0.43	-25.2418	14.5595	0.68126	0.0:1.0:0.0:0.0	.	74	O95150	TNF15_HUMAN	R	74	ENSP00000363157:G74R	ENSP00000363157:G74R	G	-	1	0	TNFSF15	116595660	0.000000	0.05858	0.008000	0.14137	0.206000	0.24218	0.724000	0.25954	2.708000	0.92522	0.585000	0.79938	GGA	-	TNFSF15	-	NULL		0.418	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	HGNC	protein_coding	OTTHUMT00000055424.2	0	0		37	37		0.00		C	NM_005118		117555839	-1	21		29		tier1	no_errors	ENST00000374045	ensembl	human	known	74_37	missense	42.00		SNP	0.012	T	21	29
YTHDC2	64848	genome.wustl.edu	37	5	112860746	112860746	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:112860746C>T	ENST00000161863.4	+	3	560	c.347C>T	c.(346-348)aCc>aTc	p.T116I	YTHDC2_ENST00000515883.1_Missense_Mutation_p.T116I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	116					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCAATGATGACCTGTAATTTG	0.333													ENSG00000047188																																					0													94.0	89.0	91.0					5																	112860746		2202	4300	6502	SO:0001583	missense	0			-	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.347C>T	5.37:g.112860746C>T	ENSP00000161863:p.Thr116Ile		B2RP66	Missense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T116I	ENST00000161863.4	37	c.347	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682424	0.47991	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000514720;ENST00000511372	T;T	0.06933	4.23;3.24	5.74	5.74	0.90152	.	0.328994	0.32819	N	0.005606	T	0.10766	0.0263	L	0.36672	1.1	0.39178	D	0.962735	B	0.13145	0.007	B	0.17098	0.017	T	0.10730	-1.0617	10	0.49607	T	0.09	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	116	Q9H6S0	YTDC2_HUMAN	I	116;116;56;26	ENSP00000161863:T116I;ENSP00000423101:T116I	ENSP00000161863:T116I	T	+	2	0	YTHDC2	112888645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.804000	0.47931	2.703000	0.92315	0.655000	0.94253	ACC	-	YTHDC2	-	NULL		0.333	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	0	0		76	76		0.00		C	NM_022828		112860746	+1	19		77		tier1	no_errors	ENST00000161863	ensembl	human	known	74_37	missense	19.79		SNP	1.000	T	19	77
DOCK6	57572	genome.wustl.edu	37	19	11319661	11319661	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:11319661C>T	ENST00000294618.7	-	38	4881	c.4870G>A	c.(4870-4872)Gcc>Acc	p.A1624T	DOCK6_ENST00000319867.7_Missense_Mutation_p.A963T|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1624	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACGAGGGCGGCCGCGTGCACC	0.701													ENSG00000130158																																					0													16.0	20.0	18.0					19																	11319661		2035	4166	6201	SO:0001583	missense	0			-		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4870G>A	19.37:g.11319661C>T	ENSP00000294618:p.Ala1624Thr		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.A1624T	ENST00000294618.7	37	c.4870	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	c	23.3	4.404473	0.83230	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.32988	2.17;1.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.83312	2.635	0.80722	D	1	D;D;D	0.61080	0.989;0.986;0.989	P;P;P	0.59825	0.829;0.864;0.829	T	0.58601	-0.7608	10	0.41790	T	0.15	-23.8874	17.4049	0.87470	0.0:1.0:0.0:0.0	.	963;1624;963	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	T	1624;963	ENSP00000294618:A1624T;ENSP00000321556:A963T	ENSP00000294618:A1624T	A	-	1	0	DOCK6	11180661	1.000000	0.71417	0.955000	0.39395	0.063000	0.16089	7.608000	0.82898	2.490000	0.84030	0.651000	0.88453	GCC	-	DOCK6	-	NULL		0.701	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	0	0		28	28		0.00		C	NM_020812		11319661	-1	19		16		tier1	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	54.29		SNP	1.000	T	19	16
NEK6	10783	genome.wustl.edu	37	9	127088704	127088704	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:127088704G>A	ENST00000320246.5	+	6	646	c.501G>A	c.(499-501)cgG>cgA	p.R167R	NEK6_ENST00000539416.1_Silent_p.R192R|NEK6_ENST00000540326.1_Silent_p.R185R|NEK6_ENST00000373600.3_Silent_p.R201R|NEK6_ENST00000373603.1_Silent_p.R167R|NEK6_ENST00000394199.2_Silent_p.R201R|NEK6_ENST00000545174.1_Silent_p.R167R|NEK6_ENST00000546191.1_Silent_p.R167R	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						ATTCACGCCGGGTGATGCACC	0.617													ENSG00000119408																									NSCLC(122;934 1785 18647 44295 45571)												0													72.0	64.0	67.0					9																	127088704		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.501G>A	9.37:g.127088704G>A			B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R201	ENST00000320246.5	37	c.603	CCDS6854.1	9																																																																																			-	NEK6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.617	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	0	0		24	24		0.00		G	NM_014397		127088704	+1	20		29		tier1	no_errors	ENST00000373600	ensembl	human	known	74_37	silent	40.82		SNP	0.965	A	20	29
TLR8	51311	genome.wustl.edu	37	X	12939947	12939947	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:12939947G>A	ENST00000218032.6	+	2	2875	c.2788G>A	c.(2788-2790)Gac>Aac	p.D930N	TLR8_ENST00000311912.5_Missense_Mutation_p.D948N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	930	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GGCCATCATCGACAACCTCAT	0.428													ENSG00000101916																																					0													72.0	73.0	73.0					X																	12939947		2203	4300	6503	SO:0001583	missense	0			-	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2788G>A	X.37:g.12939947G>A	ENSP00000218032:p.Asp930Asn		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D930N	ENST00000218032.6	37	c.2788	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740197	0.69304	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.02606	4.23;4.23	5.97	5.08	0.68730	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.42053	D	0.000767	T	0.14570	0.0352	M	0.80028	2.48	0.48236	D	0.99961	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00132	-1.2011	10	0.87932	D	0	.	10.3499	0.43929	0.074:0.1331:0.7929:0.0	.	930;948	Q9NR97;D1CS70	TLR8_HUMAN;.	N	930;948	ENSP00000218032:D930N;ENSP00000312082:D948N	ENSP00000218032:D930N	D	+	1	0	TLR8	12849868	1.000000	0.71417	0.976000	0.42696	0.859000	0.49053	4.924000	0.63418	1.234000	0.43709	0.600000	0.82982	GAC	-	TLR8	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.428	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	0	0		20	20		0.00		G	NM_016610		12939947	+1	6		13		tier1	no_errors	ENST00000218032	ensembl	human	known	74_37	missense	31.58		SNP	0.992	A	6	13
KCNN1	3780	genome.wustl.edu	37	19	18096154	18096154	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18096154C>T	ENST00000222249.9	+	6	1270	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	317					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CCAGCAACTTCCTGGGGGCCA	0.597													ENSG00000105642																																					0													74.0	80.0	78.0					19																	18096154		2136	4259	6395	SO:0001819	synonymous_variant	0			-	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.951C>T	19.37:g.18096154C>T			Q5KR10|Q6DJU4	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.F317	ENST00000222249.9	37	c.951		19																																																																																			-	KCNN1	-	pfam_2pore_dom_K_chnl_dom		0.597	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	KCNN1	HGNC	protein_coding	OTTHUMT00000471896.2	0	0		27	27		0.00		C	NM_002248		18096154	+1	10		24		tier1	no_errors	ENST00000222249	ensembl	human	known	74_37	silent	29.41		SNP	1.000	T	10	24
DUOX2	50506	genome.wustl.edu	37	15	45399614	45399614	+	Missense_Mutation	SNP	C	C	A	rs376118025		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45399614C>A	ENST00000603300.1	-	14	1824	c.1622G>T	c.(1621-1623)cGg>cTg	p.R541L	DUOX2_ENST00000389039.6_Missense_Mutation_p.R541L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	541	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				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)	p.R541L(1)		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)		CAGCACGTCCCGCAGGGTGGT	0.532													ENSG00000140279																																					1	Substitution - Missense(1)	lung(1)											150.0	134.0	140.0					15																	45399614		2198	4298	6496	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.1622G>T	15.37:g.45399614C>A	ENSP00000475084:p.Arg541Leu		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_D-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.R541L	ENST00000603300.1	37	c.1622	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065260	0.20067	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.5	2.18	0.27775	.	0.386867	0.29767	N	0.011246	T	0.41696	0.1170	L	0.54908	1.71	0.21325	N	0.999725	B;B	0.29253	0.087;0.239	B;B	0.37601	0.049;0.254	T	0.30001	-0.9993	9	0.11485	T	0.65	-8.2398	9.613	0.39674	0.0:0.629:0.0:0.371	.	541;103	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	541	.	ENSP00000373691:R541L	R	-	2	0	DUOX2	43186906	0.218000	0.23608	0.896000	0.35187	0.539000	0.34962	0.507000	0.22675	0.717000	0.32145	-0.119000	0.15052	CGG	-	DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.532	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		0	0		67	67		0.00		C	NM_014080		45399614	-1	29		36		tier1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	44.62		SNP	0.313	A	29	36
HELQ	113510	genome.wustl.edu	37	4	84368140	84368140	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:84368140C>T	ENST00000295488.3	-	4	1402	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	414	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCAGCATATTCTTCAACAAAG	0.358								Other identified genes with known or suspected DNA repair function					ENSG00000163312																																					0													60.0	59.0	59.0					4																	84368140		2203	4300	6503	SO:0001583	missense	0			-	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1240G>A	4.37:g.84368140C>T	ENSP00000295488:p.Glu414Lys		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E414K	ENST00000295488.3	37	c.1240	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.427561	0.96131	.	.	ENSG00000163312	ENST00000295488	T	0.14516	2.5	5.44	5.44	0.79542	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57929	-0.7726	10	0.48119	T	0.1	-12.7298	19.6316	0.95708	0.0:1.0:0.0:0.0	.	414	Q8TDG4	HELQ_HUMAN	K	414	ENSP00000295488:E414K	ENSP00000295488:E414K	E	-	1	0	HELQ	84587164	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.583000	0.82559	2.708000	0.92522	0.585000	0.79938	GAA	-	HELQ	-	pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.358	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	0	0		95	95		0.00		C	NM_133636		84368140	-1	47		60		tier1	no_errors	ENST00000295488	ensembl	human	known	74_37	missense	43.93		SNP	1.000	T	47	60
GALNTL6	442117	genome.wustl.edu	37	4	173269726	173269726	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:173269726C>T	ENST00000506823.1	+	5	1096	c.439C>T	c.(439-441)Cca>Tca	p.P147S	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.P130S	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	147	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCATTATCCCATTTCATAA	0.413													ENSG00000174473																																					0													145.0	135.0	139.0					4																	173269726		2203	4300	6503	SO:0001583	missense	0			-		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.439C>T	4.37:g.173269726C>T	ENSP00000423313:p.Pro147Ser		Q2L4S6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P147S	ENST00000506823.1	37	c.439	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546710	0.65198	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.72942	-0.7;-0.7	5.23	5.23	0.72850	Glycosyl transferase, family 2 (1);	0.466085	0.16013	N	0.233712	D	0.86497	0.5947	M	0.86178	2.8	0.48341	D	0.999637	D	0.89917	1.0	D	0.97110	1.0	D	0.86649	0.1897	10	0.49607	T	0.09	.	18.8064	0.92038	0.0:1.0:0.0:0.0	.	147	Q49A17	GLTL6_HUMAN	S	147;147;130	ENSP00000423313:P147S;ENSP00000423827:P130S	ENSP00000385382:P147S	P	+	1	0	GALNTL6	173506301	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.962000	0.56766	2.451000	0.82905	0.467000	0.42956	CCA	-	GALNTL6	-	pfam_Glyco_trans_2		0.413	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	0	0		55	55		0.00		C	NM_001034845		173269726	+1	19		66		tier1	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	22.35		SNP	1.000	T	19	66
ANK1	286	genome.wustl.edu	37	8	41530215	41530215	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41530215G>T	ENST00000347528.4	-	38	4836	c.4753C>A	c.(4753-4755)Ctg>Atg	p.L1585M	ANK1_ENST00000396942.1_Missense_Mutation_p.L1585M|ANK1_ENST00000352337.4_Missense_Mutation_p.L1585M|ANK1_ENST00000289734.7_Missense_Mutation_p.L1585M|ANK1_ENST00000265709.8_Missense_Mutation_p.L1626M|ANK1_ENST00000379758.2_Missense_Mutation_p.L1585M|ANK1_ENST00000396945.1_Missense_Mutation_p.L1585M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1585	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTACACTCCAGAGAGGAGTCC	0.617													ENSG00000029534																																					0													69.0	69.0	69.0					8																	41530215		2203	4300	6503	SO:0001583	missense	0			-	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4753C>A	8.37:g.41530215G>T	ENSP00000339620:p.Leu1585Met		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	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.L1585M	ENST00000347528.4	37	c.4753	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686078	0.68157	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.74209	-0.81;-0.82;-0.78;-0.8;-0.79;-0.73;-0.79	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000009	D	0.83557	0.5280	L	0.59436	1.845	0.49915	D	0.999838	D;D;D;D	0.76494	0.999;0.992;0.996;0.999	D;D;D;D	0.72625	0.975;0.95;0.978;0.975	D	0.84012	0.0349	10	0.54805	T	0.06	.	16.4381	0.83884	0.0:0.0:1.0:0.0	.	1626;1585;1585;1585	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	M	1585;1585;1585;1585;1585;1585;1626	ENSP00000339620:L1585M;ENSP00000289734:L1585M;ENSP00000369082:L1585M;ENSP00000380149:L1585M;ENSP00000380147:L1585M;ENSP00000309131:L1585M;ENSP00000265709:L1626M	ENSP00000265709:L1626M	L	-	1	2	ANK1	41649372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.534000	0.82004	2.635000	0.89317	0.552000	0.68991	CTG	-	ANK1	-	NULL		0.617	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	0	0		17	17		0.00		G	NM_020475		41530215	-1	6		22		tier1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	21.43		SNP	1.000	T	6	22
DHX32	55760	genome.wustl.edu	37	10	127541727	127541727	+	Intron	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:127541727C>G	ENST00000284690.3	-	5	1583				DHX32_ENST00000284688.6_Intron|BCCIP_ENST00000368759.5_Missense_Mutation_p.S295C|DHX32_ENST00000368721.1_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32							mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			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)				GCCCTGGTTTCTCTGAAGGCT	0.423													ENSG00000107949																																					0													122.0	119.0	120.0					10																	127541727		2203	4300	6503	SO:0001627	intron_variant	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.1093-516G>C	10.37:g.127541727C>G			A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	NULL	p.S295C	ENST00000284690.3	37	c.884	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	9.852	1.193930	0.22037	.	.	ENSG00000107949	ENST00000368759	T	0.49720	0.77	3.56	1.69	0.24217	.	0.411149	0.26753	N	0.022675	T	0.49729	0.1574	.	.	.	0.09310	N	1	D	0.61697	0.99	P	0.53450	0.726	T	0.39623	-0.9605	9	0.72032	D	0.01	-24.1733	5.9131	0.19039	0.0:0.7598:0.0:0.2402	.	295	Q9P287-2	.	C	295	ENSP00000357748:S295C	ENSP00000357748:S295C	S	+	2	0	BCCIP	127531717	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.633000	0.24598	0.507000	0.28148	0.655000	0.94253	TCT	-	BCCIP	-	NULL		0.423	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCCIP	HGNC	protein_coding	OTTHUMT00000050945.2	0	0		44	44		0.00		C	NM_018180		127541727	+1	16		24		tier1	no_errors	ENST00000368759	ensembl	human	known	74_37	missense	40.00		SNP	0.002	G	16	24
KMT2C	58508	genome.wustl.edu	37	7	151871280	151871280	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:151871280G>A	ENST00000262189.6	-	39	9528	c.9310C>T	c.(9310-9312)Ctt>Ttt	p.L3104F	KMT2C_ENST00000355193.2_Missense_Mutation_p.L3104F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3104	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATACCTTTAAGGGCCACCATT	0.378													ENSG00000055609																																					0													125.0	124.0	124.0					7																	151871280		2203	4300	6503	SO:0001583	missense	0			-	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9310C>T	7.37:g.151871280G>A	ENSP00000262189:p.Leu3104Phe		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L3104F	ENST00000262189.6	37	c.9310	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.158833|3.158833	0.57368|0.57368	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.88354|.	-2.37;-2.37|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.41823|.	D|.	0.000804|.	T|T	0.78201|0.78201	0.4246|0.4246	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.998;0.994;0.982|.	T|T	0.77744|0.77744	-0.2473|-0.2473	10|5	0.87932|.	D|.	0|.	.|.	19.4131|19.4131	0.94683|0.94683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3104;2165;3104|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	F|L	3104|609	ENSP00000262189:L3104F;ENSP00000347325:L3104F|.	ENSP00000262189:L3104F|.	L|P	-|-	1|2	0|0	MLL3|MLL3	151502213|151502213	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	5.413000|5.413000	0.66399|0.66399	2.585000|2.585000	0.87301|0.87301	0.650000|0.650000	0.86243|0.86243	CTT|CCT	-	KMT2C	-	NULL		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	0	0		57	57		0.00		G			151871280	-1	28		57		tier1	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	32.94		SNP	1.000	A	28	57
TSC1	7248	genome.wustl.edu	37	9	135782743	135782743	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:135782743A>G	ENST00000298552.3	-	13	1499	c.1278T>C	c.(1276-1278)gaT>gaC	p.D426D	TSC1_ENST00000545250.1_Silent_p.D375D|TSC1_ENST00000440111.2_Silent_p.D426D	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	426					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCTTGCAGAATCCATTCTCT	0.383			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				ENSG00000165699																											yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											141.0	123.0	129.0					9																	135782743		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	-	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1278T>C	9.37:g.135782743A>G			B7Z897|Q5VVN5	Silent	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.D426	ENST00000298552.3	37	c.1278	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	A	3.944	-0.013556	0.07727	.	.	ENSG00000165699	ENST00000424271	.	.	.	5.11	-4.39	0.03611	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.47737	D	0.9995	.	.	.	.	.	.	T	0.52320	-0.8591	5	0.66056	D	0.02	-6.0097	1.1347	0.01752	0.3397:0.2737:0.2536:0.1329	.	.	.	.	T	305	.	ENSP00000393473:I305T	I	-	2	0	TSC1	134772564	0.160000	0.22878	0.012000	0.15200	0.587000	0.36485	-0.322000	0.08007	-1.005000	0.03417	0.477000	0.44152	ATT	-	TSC1	-	pfam_Hamartin		0.383	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	0	0		37	37		0.00		A			135782743	-1	20		38		tier1	no_errors	ENST00000298552	ensembl	human	known	74_37	silent	34.48		SNP	0.237	G	20	38
TMPRSS11A	339967	genome.wustl.edu	37	4	68784885	68784885	+	Missense_Mutation	SNP	C	C	T	rs138567771	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:68784885C>T	ENST00000334830.7	-	8	1513	c.767G>A	c.(766-768)aGa>aAa	p.R256K	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R253K|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.R252K|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCTGACATTTCTTTTCATTAA	0.368													ENSG00000187054																									NSCLC(26;2 894 10941 14480 22546)												0													148.0	159.0	156.0					4																	68784885		2203	4300	6503	SO:0001583	missense	0			-	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.767G>A	4.37:g.68784885C>T	ENSP00000334611:p.Arg256Lys		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R256K	ENST00000334830.7	37	c.767	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308645	0.81247	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000007	D	0.95395	0.8505	L	0.49455	1.56	0.36546	D	0.871549	D;D	0.69078	0.997;0.997	D;D	0.79784	0.993;0.993	D	0.96809	0.9595	10	0.51188	T	0.08	.	16.5682	0.84604	0.0:1.0:0.0:0.0	.	253;256	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	K	252;256;253;220	ENSP00000426911:R252K;ENSP00000334611:R256K;ENSP00000379491:R253K;ENSP00000427621:R220K	ENSP00000334611:R256K	R	-	2	0	TMPRSS11A	68467480	0.996000	0.38824	0.997000	0.53966	0.744000	0.42396	2.297000	0.43593	2.512000	0.84698	0.591000	0.81541	AGA	-	TMPRSS11A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1		0.368	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	0	0		57	57		0.00		C	NM_182606		68784885	-1	15		59		tier1	no_errors	ENST00000334830	ensembl	human	known	74_37	missense	20.27		SNP	1.000	T	15	59
SSH2	85464	genome.wustl.edu	37	17	27958927	27958927	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:27958927C>T	ENST00000269033.3	-	15	3355	c.3204G>A	c.(3202-3204)caG>caA	p.Q1068Q	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.Q1095Q	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1068					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGAGAAACCTGGTTGGGGT	0.527													ENSG00000141298																																					0													104.0	100.0	101.0					17																	27958927		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3204G>A	17.37:g.27958927C>T			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Q1068	ENST00000269033.3	37	c.3204	CCDS11253.1	17																																																																																			-	SSH2	-	NULL		0.527	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	0	0		41	41		0.00		C	NM_033389		27958927	-1	30		46		tier1	no_errors	ENST00000269033	ensembl	human	known	74_37	silent	39.47		SNP	0.093	T	30	46
MIR663AHG	284801	genome.wustl.edu	37	20	26174098	26174098	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:26174098G>A	ENST00000416638.1	+	0	142																											TGAAAGCTTGGTGGAAAAAAC	0.478													ENSG00000238129																																					0																																												0			-																													20.37:g.26174098G>A				R	SNP	-	NULL	ENST00000416638.1	37	NULL		20																																																																																			-	RP3-410C9.2	-	-		0.478	RP3-410C9.2-001	KNOWN	basic	lincRNA	ENSG00000238129	Clone_based_vega_gene	lincRNA	OTTHUMT00000078485.1	0	0		109	109		0.00		G			26174098	+1	26		143		tier1	no_errors	ENST00000416638	ensembl	human	known	74_37	rna	15.38		SNP	0.063	A	26	143
SOCS2	8835	genome.wustl.edu	37	12	93968915	93968915	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:93968915G>A	ENST00000340600.2	+	3	1155	c.557G>A	c.(556-558)aGa>aAa	p.R186K	SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000551556.1_Missense_Mutation_p.R186K|SOCS2_ENST00000549122.1_Missense_Mutation_p.R186K|SOCS2_ENST00000549206.1_Missense_Mutation_p.R186K|SOCS2_ENST00000536696.2_Missense_Mutation_p.R186K	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	186	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TTACCAACAAGACTAAAAGAT	0.403													ENSG00000120833																																					0													57.0	53.0	54.0					12																	93968915		2203	4300	6503	SO:0001583	missense	0			-	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.557G>A	12.37:g.93968915G>A	ENSP00000339428:p.Arg186Lys		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.R186K	ENST00000340600.2	37	c.557	CCDS9047.1	12	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797904	0.50208	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000549122;ENST00000551556	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.84	5.84	0.93424	SOCS protein, C-terminal (4);	0.041852	0.85682	N	0.000000	T	0.62938	0.2469	L	0.53780	1.695	0.58432	D	0.999998	P	0.46952	0.887	D	0.64410	0.925	T	0.50825	-0.8782	10	0.10377	T	0.69	-0.0349	20.1346	0.98019	0.0:0.0:1.0:0.0	.	186	O14508	SOCS2_HUMAN	K	186;186;186;134;186;186	ENSP00000339428:R186K;ENSP00000448815:R186K;ENSP00000442898:R186K;ENSP00000447161:R186K;ENSP00000449227:R186K	ENSP00000339428:R186K	R	+	2	0	SOCS2	92493046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.269000	0.72558	2.765000	0.95021	0.655000	0.94253	AGA	-	SOCS2	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.403	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS2	HGNC	protein_coding	OTTHUMT00000407731.2	0	0		55	55		0.00		G			93968915	+1	17		52		tier1	no_errors	ENST00000340600	ensembl	human	known	74_37	missense	24.64		SNP	1.000	A	17	52
COA6	388753	genome.wustl.edu	37	1	234509179	234509179	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:234509179G>A	ENST00000366613.1	+	0	0				RP5-827C21.6_ENST00000610233.1_RNA|COA6_ENST00000366615.4_5'Flank|COA6_ENST00000366612.1_5'Flank|RP5-827C21.4_ENST00000451795.1_RNA	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										AGATAAAAGCGAAACAGGAAG	0.522													ENSG00000231663																																					0																																										SO:0001631	upstream_gene_variant	0			-		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945		1.37:g.234509179G>A	Exception_encountered		Q5JTJ2|Q5JTJ4|Q8TA88	R	SNP	-	NULL	ENST00000366613.1	37	NULL	CCDS31059.1	1																																																																																			-	RP5-827C21.4	-	-		0.522	COA6-002	NOVEL	basic|CCDS	protein_coding	LOC101927765	Clone_based_vega_gene	protein_coding	OTTHUMT00000092613.1	0	0		41	41		0.00		G	NM_001012985		234509179	-1	20		42		tier1	no_errors	ENST00000451795	ensembl	human	known	74_37	rna	32.26		SNP	0.000	A	20	42
OR6F1	343169	genome.wustl.edu	37	1	247875800	247875800	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247875800C>T	ENST00000302084.2	-	1	305	c.258G>A	c.(256-258)ctG>ctA	p.L86L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACTTCTCCCCAGTAGGATGG	0.478													ENSG00000169214																																					0													115.0	115.0	115.0					1																	247875800		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.258G>A	1.37:g.247875800C>T			B2RNV6|Q6IF02|Q96R39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L86	ENST00000302084.2	37	c.258	CCDS31095.1	1																																																																																			-	OR6F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.478	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	0	0		33	33		0.00		C	NM_001005286		247875800	-1	17		34		tier1	no_errors	ENST00000302084	ensembl	human	known	74_37	silent	33.33		SNP	0.000	T	17	34
SUSD3	203328	genome.wustl.edu	37	9	95831418	95831418	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:95831418C>T	ENST00000375472.3	+	2	124				SUSD3_ENST00000375469.1_Missense_Mutation_p.P13S	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						atgggaaattccagagataat	0.453													ENSG00000157303																																					0																																										SO:0001627	intron_variant	0			-	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.89-6648C>T	9.37:g.95831418C>T			Q49AA6|Q6UXV7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P13S	ENST00000375472.3	37	c.37	CCDS6701.1	9	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326852	0.24080	.	.	ENSG00000157303	ENST00000375469	T	0.54279	0.58	0.427	0.427	0.16489	.	.	.	.	.	T	0.64193	0.2576	.	.	.	0.09310	N	1	D	0.60575	0.988	D	0.65140	0.932	T	0.52434	-0.8576	7	0.87932	D	0	.	.	.	.	.	13	Q96L08-2	.	S	13	ENSP00000364618:P13S	ENSP00000364618:P13S	P	+	1	0	SUSD3	94871239	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	-0.389000	0.07342	0.458000	0.26988	0.467000	0.42956	CCA	-	SUSD3	-	NULL		0.453	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD3	HGNC	protein_coding	OTTHUMT00000053120.1	0	0		47	47		0.00		C	NM_145006		95831418	+1	31		32		tier1	no_errors	ENST00000375469	ensembl	human	known	74_37	missense	49.21		SNP	0.009	T	31	32
ZNF319	57567	genome.wustl.edu	37	16	58030805	58030805	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:58030805C>T	ENST00000299237.2	-	2	1987	c.1365G>A	c.(1363-1365)gaG>gaA	p.E455E	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	455					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(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCAGGGGCTTCTCTGCCGCCG	0.677													ENSG00000166188																																					0													19.0	21.0	20.0					16																	58030805		2197	4299	6496	SO:0001819	synonymous_variant	0			-	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1365G>A	16.37:g.58030805C>T			Q52LH8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E455	ENST00000299237.2	37	c.1365	CCDS32462.1	16																																																																																			-	ZNF319	-	pfscan_Znf_C2H2		0.677	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF319	HGNC	protein_coding	OTTHUMT00000430317.1	0	0		13	13		0.00		C			58030805	-1	5		13		tier1	no_errors	ENST00000299237	ensembl	human	known	74_37	silent	27.78		SNP	1.000	T	5	13
TTBK1	84630	genome.wustl.edu	37	6	43250565	43250565	+	Missense_Mutation	SNP	G	G	A	rs578249848	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:43250565G>A	ENST00000259750.4	+	14	2170	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	696					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCCGATTACCGAGAACGGGCG	0.622													ENSG00000146216	G|||	4	0.000798722	0.0	0.0043	5008	,	,		18142	0.001		0.0	False		,,,				2504	0.0																0													83.0	88.0	86.0					6																	43250565		2203	4300	6503	SO:0001583	missense	0			-	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2087G>A	6.37:g.43250565G>A	ENSP00000259750:p.Arg696Gln		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.R696Q	ENST00000259750.4	37	c.2087	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704769	0.48412	.	.	ENSG00000146216	ENST00000259750	T	0.53423	0.62	4.12	4.12	0.48240	.	0.890080	0.09283	N	0.823520	T	0.19327	0.0464	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	B	0.44108	0.441	T	0.04320	-1.0960	10	0.17832	T	0.49	.	9.0961	0.36640	0.1058:0.0:0.8942:0.0	.	696	Q5TCY1	TTBK1_HUMAN	Q	696	ENSP00000259750:R696Q	ENSP00000259750:R696Q	R	+	2	0	TTBK1	43358543	0.998000	0.40836	0.992000	0.48379	0.976000	0.68499	4.641000	0.61375	1.835000	0.53391	0.555000	0.69702	CGA	-	TTBK1	-	NULL		0.622	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	0	0		38	38		0.00		G			43250565	+1	31		37		tier1	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	45.59		SNP	0.996	A	31	37
UNC93B1	81622	genome.wustl.edu	37	11	67766695	67766695	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:67766695G>A	ENST00000227471.2	-	5	714	c.635C>T	c.(634-636)tCc>tTc	p.S212F	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GGGCGCGTGGGAGCCCCGCGG	0.602													ENSG00000110057																																					0													63.0	73.0	70.0					11																	67766695		2031	4183	6214	SO:0001583	missense	0			-	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.635C>T	11.37:g.67766695G>A	ENSP00000227471:p.Ser212Phe		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.S212F	ENST00000227471.2	37	c.635		11	.	.	.	.	.	.	.	.	.	.	.	14.55	2.568766	0.45798	.	.	ENSG00000110057	ENST00000227471;ENST00000528423	T;T	0.07688	3.17;3.17	4.18	4.18	0.49190	.	0.106321	0.64402	D	0.000005	T	0.08358	0.0208	.	.	.	0.32001	N	0.603318	B	0.06786	0.001	B	0.04013	0.001	T	0.03259	-1.1055	9	0.41790	T	0.15	-28.655	15.5951	0.76572	0.0:0.0:1.0:0.0	.	212	Q9H1C4	UN93B_HUMAN	F	212;141	ENSP00000227471:S212F;ENSP00000437195:S141F	ENSP00000227471:S212F	S	-	2	0	UNC93B1	67523271	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	8.380000	0.90149	2.316000	0.78162	0.561000	0.74099	TCC	-	UNC93B1	-	NULL		0.602	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		0	0		42	42		0.00		G	NM_030930		67766695	-1	20		54		tier1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	27.03		SNP	1.000	A	20	54
PCDH15	65217	genome.wustl.edu	37	10	55583083	55583083	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:55583083C>T	ENST00000320301.6	-	33	4797	c.4403G>A	c.(4402-4404)gGa>gAa	p.G1468E	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1465E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1470E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1445E|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1428E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1399E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1468					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)				TGAGTTATTTCCCCTGCTTTG	0.383										HNSCC(58;0.16)			ENSG00000150275																																					0													109.0	110.0	109.0					10																	55583083		2203	4300	6503	SO:0001583	missense	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.4403G>A	10.37:g.55583083C>T	ENSP00000322604:p.Gly1468Glu		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1468E	ENST00000320301.6	37	c.4403	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511496	0.44660	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57907	0.4;0.37;0.41;0.38;0.37;0.39	6.02	4.16	0.48862	.	.	.	.	.	T	0.50514	0.1620	M	0.63843	1.955	0.38404	D	0.945743	B;B;B;B;B;B;B;B	0.21821	0.061;0.012;0.012;0.012;0.005;0.012;0.061;0.012	B;B;B;B;B;B;B;B	0.29440	0.102;0.009;0.009;0.009;0.009;0.013;0.102;0.009	T	0.47849	-0.9085	9	0.30854	T	0.27	.	11.2756	0.49165	0.0:0.8493:0.0:0.1507	.	1445;1468;1470;1475;1399;1428;1465;1468	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	E	1428;1470;1445;1468;1465;1475;1399	ENSP00000378820:G1428E;ENSP00000354950:G1470E;ENSP00000378821:G1445E;ENSP00000322604:G1468E;ENSP00000378818:G1465E;ENSP00000412628:G1399E	ENSP00000322604:G1468E	G	-	2	0	PCDH15	55253089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.277000	0.51654	0.846000	0.35142	0.650000	0.86243	GGA	-	PCDH15	-	NULL		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	0	0		64	64		0.00		C	NM_033056		55583083	-1	18		52		tier1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	25.71		SNP	1.000	T	18	52
MTMR3	8897	genome.wustl.edu	37	22	30418097	30418097	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:30418097G>A	ENST00000401950.2	+	18	3647	c.3305G>A	c.(3304-3306)aGc>aAc	p.S1102N	MTMR3_ENST00000323630.5_Missense_Mutation_p.S966N|MTMR3_ENST00000406629.1_Intron|MTMR3_ENST00000333027.3_Intron|MTMR3_ENST00000351488.3_Intron|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1102					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTGAAGCCAGCTGGGAGCAG	0.502													ENSG00000100330																																					0													77.0	72.0	73.0					22																	30418097		2203	4300	6503	SO:0001583	missense	0			-	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3305G>A	22.37:g.30418097G>A	ENSP00000384651:p.Ser1102Asn		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S1102N	ENST00000401950.2	37	c.3305	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721074	0.89205	.	.	ENSG00000100330	ENST00000401950;ENST00000323630	D;D	0.94537	-3.26;-3.45	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95695	0.8600	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96137	0.9097	10	0.87932	D	0	.	18.1693	0.89740	0.0:0.0:1.0:0.0	.	1102	Q13615	MTMR3_HUMAN	N	1102;966	ENSP00000384651:S1102N;ENSP00000318070:S966N	ENSP00000318070:S966N	S	+	2	0	MTMR3	28748097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.253000	0.95501	2.767000	0.95098	0.655000	0.94253	AGC	-	MTMR3	-	NULL		0.502	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	0	0		58	58		0.00		G	NM_021090		30418097	+1	21		41		tier1	no_errors	ENST00000401950	ensembl	human	known	74_37	missense	33.87		SNP	1.000	A	21	41
BEND3	57673	genome.wustl.edu	37	6	107391312	107391312	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:107391312C>T	ENST00000369042.1	-	4	1273	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	BEND3_ENST00000429433.2_Silent_p.E361E			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	361										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGTCCACCTGCTCTGCCTCAA	0.647													ENSG00000178409																																					0													35.0	35.0	35.0					6																	107391312		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1083G>A	6.37:g.107391312C>T			A2RRH2|Q9HCL9	Silent	SNP	pfam_BEN_domain	p.E361	ENST00000369042.1	37	c.1083	CCDS34507.1	6																																																																																			-	BEND3	-	NULL		0.647	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	0	0		24	24		0.00		C	NM_020913		107391312	-1	13		29		tier1	no_errors	ENST00000369042	ensembl	human	known	74_37	silent	30.95		SNP	0.996	T	13	29
CALCB	797	genome.wustl.edu	37	11	15098931	15098931	+	Silent	SNP	C	C	T	rs145827382	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:15098931C>T	ENST00000533448.1	+	4	435	c.324C>T	c.(322-324)ttC>ttT	p.F108F	CALCB_ENST00000324229.6_Silent_p.F108F|CALCB_ENST00000523376.1_Silent_p.F119F			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	108					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.F108F(1)		endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						AGAGCAACTTCGTGCCCACCA	0.577													ENSG00000175868																																					1	Substitution - coding silent(1)	skin(1)						C		4,4396	8.1+/-20.4	0,4,2196	61.0	57.0	59.0		324	-5.2	0.9	11	dbSNP_134	59	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	CALCB	NM_000728.3		0,5,6489	TT,TC,CC		0.0116,0.0909,0.0385		108/128	15098931	5,12983	2200	4294	6494	SO:0001819	synonymous_variant	0			-		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.324C>T	11.37:g.15098931C>T			A8K573|D3DQX4|Q569I0|Q9UCN9	Silent	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.F108	ENST00000533448.1	37	c.324	CCDS7820.1	11																																																																																			rs145827382	CALCB	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep		0.577	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	0	0		39	39		0.00		C	NM_000728		15098931	+1	21		38		tier1	no_errors	ENST00000324229	ensembl	human	known	74_37	silent	35.59		SNP	0.903	T	21	38
FAM135B	51059	genome.wustl.edu	37	8	139164548	139164548	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:139164548G>A	ENST00000395297.1	-	13	2340	c.2170C>T	c.(2170-2172)Cac>Tac	p.H724Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	724										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGTTCCGGTGGAGGGCATGT	0.557										HNSCC(54;0.14)			ENSG00000147724																																					0													42.0	43.0	43.0					8																	139164548		2005	4182	6187	SO:0001583	missense	0			-	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2170C>T	8.37:g.139164548G>A	ENSP00000378710:p.His724Tyr		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.H724Y	ENST00000395297.1	37	c.2170	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419793	0.62622	.	.	ENSG00000147724	ENST00000395297	T	0.16324	2.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.56769	1.78	0.48901	D	0.999722	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.946	T	0.02190	-1.1198	10	0.17369	T	0.5	-23.024	13.6628	0.62376	0.0:0.0:0.8457:0.1543	.	724;724;724	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Y	724	ENSP00000378710:H724Y	ENSP00000276737:H724Y	H	-	1	0	FAM135B	139233730	1.000000	0.71417	0.960000	0.40013	0.693000	0.40251	7.236000	0.78154	2.678000	0.91216	0.655000	0.94253	CAC	-	FAM135B	-	NULL		0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	0	0		21	21		0.00		G	NM_015912		139164548	-1	5		19		tier1	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	20.83		SNP	0.993	A	5	19
ABCC11	85320	genome.wustl.edu	37	16	48234211	48234211	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:48234211G>A	ENST00000394747.1	-	14	2407	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	ABCC11_ENST00000394748.1_Silent_p.V686V|ABCC11_ENST00000356608.2_Silent_p.V686V|ABCC11_ENST00000537808.1_Silent_p.V686V|ABCC11_ENST00000353782.5_Silent_p.V686V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	686	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	TCACCAGGACGACCGTCTTCC	0.552													ENSG00000121270																																					0													111.0	96.0	101.0					16																	48234211		2201	4300	6501	SO:0001819	synonymous_variant	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.2058C>T	16.37:g.48234211G>A			Q8TDJ0|Q96JA6|Q9BX80	Silent	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.V686	ENST00000394747.1	37	c.2058	CCDS10732.1	16																																																																																			-	ABCC11	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.552	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	0	0		61	61		0.00		G	NM_032583		48234211	-1	14		53		tier1	no_errors	ENST00000356608	ensembl	human	known	74_37	silent	20.90		SNP	0.000	A	14	53
LRTM2	654429	genome.wustl.edu	37	12	1940156	1940156	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:1940156C>T	ENST00000543818.1	+	4	965	c.123C>T	c.(121-123)ttC>ttT	p.F41F	CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Silent_p.F41F|LRTM2_ENST00000535041.1_Silent_p.F41F|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	41	LRRNT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTGCCCTTTCTCCTGCAAGT	0.647													ENSG00000166159																																					0													67.0	54.0	58.0					12																	1940156		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.123C>T	12.37:g.1940156C>T			A7E2U6	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F41	ENST00000543818.1	37	c.123	CCDS31726.1	12																																																																																			-	LRTM2	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.647	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	0	0		24	24		0.00		C			1940156	+1	9		39		tier1	no_errors	ENST00000299194	ensembl	human	known	74_37	silent	18.75		SNP	0.168	T	9	39
NMT2	9397	genome.wustl.edu	37	10	15161401	15161401	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:15161401C>T	ENST00000378165.4	-	9	1191	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	NMT2_ENST00000535341.1_Missense_Mutation_p.E358K|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.E358K|NMT2_ENST00000540259.1_Missense_Mutation_p.E183K	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	371					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GCTACTTCCTCTTCATCCATC	0.433													ENSG00000152465																									Melanoma(117;1345 1645 4130 12688 30625)												0													208.0	193.0	198.0					10																	15161401		2203	4300	6503	SO:0001583	missense	0			-	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1111G>A	10.37:g.15161401C>T	ENSP00000367407:p.Glu371Lys		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.E371K	ENST00000378165.4	37	c.1111	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450492	0.84101	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.53206	0.63	5.61	5.61	0.85477	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.149504	0.64402	D	0.000017	T	0.70124	0.3188	M	0.83223	2.63	0.80722	D	1	D;P;D	0.55385	0.971;0.556;0.971	P;P;P	0.60345	0.873;0.487;0.873	T	0.71919	-0.4447	9	.	.	.	-8.5776	19.6471	0.95779	0.0:1.0:0.0:0.0	.	371;358;371	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	K	371;358;402;183;358	ENSP00000367407:E371K	.	E	-	1	0	NMT2	15201407	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	7.669000	0.83911	2.629000	0.89072	0.655000	0.94253	GAG	-	NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.433	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	0	0		106	106		0.00		C	NM_004808		15161401	-1	42		92		tier1	no_errors	ENST00000378165	ensembl	human	known	74_37	missense	31.34		SNP	1.000	T	42	92
POT1	25913	genome.wustl.edu	37	7	124482955	124482955	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:124482955G>A	ENST00000357628.3	-	13	1667	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	POT1_ENST00000393329.1_Missense_Mutation_p.P226S	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	357					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TATTGTTGAGGAGCTTTTTGT	0.358													ENSG00000128513																									Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													124.0	108.0	113.0					7																	124482955		2203	4300	6503	SO:0001583	missense	0			-	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1069C>T	7.37:g.124482955G>A	ENSP00000350249:p.Pro357Ser		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.P357S	ENST00000357628.3	37	c.1069	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737488	0.89482	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000265391	T;T	0.62498	0.02;0.03	5.62	5.62	0.85841	.	0.174265	0.52532	D	0.000065	T	0.80523	0.4639	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.82196	-0.0577	10	0.72032	D	0.01	-22.4313	18.207	0.89858	0.0:0.0:1.0:0.0	.	357	Q9NUX5	POTE1_HUMAN	S	357;226;357;357;356	ENSP00000350249:P357S;ENSP00000377002:P226S	ENSP00000265391:P356S	P	-	1	0	POT1	124270191	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.034000	0.76511	2.641000	0.89580	0.591000	0.81541	CCT	-	POT1	-	NULL		0.358	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	0	0		94	94		0.00		G			124482955	-1	40		92		tier1	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	30.30		SNP	1.000	A	40	92
MFSD9	84804	genome.wustl.edu	37	2	103343434	103343434	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:103343434C>T	ENST00000258436.5	-	4	341		c.e4-1			NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TCCAGCAGCCCTGAGGAAAGT	0.498													ENSG00000135953																																					0													71.0	68.0	69.0					2																	103343434		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.298-1G>A	2.37:g.103343434C>T			Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Splice_Site	SNP	-	e4-1	ENST00000258436.5	37	c.298-1	CCDS2063.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564560	0.86439	.	.	ENSG00000135953	ENST00000258436	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6917	0.96005	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFSD9	102709866	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.341000	0.79300	2.663000	0.90544	0.655000	0.94253	.	-	MFSD9	-	-		0.498	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	HGNC	protein_coding	OTTHUMT00000253295.2	0	0		60	60		0.00		C	NM_032718	Intron	103343434	-1	10		50		tier1	no_errors	ENST00000258436	ensembl	human	known	74_37	splice_site	16.67		SNP	1.000	T	10	50
SOGA1	140710	genome.wustl.edu	37	20	35443578	35443578	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:35443578C>T	ENST00000357779.3	-	5	1879	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E	SOGA1_ENST00000279034.6_Missense_Mutation_p.G518E|SOGA1_ENST00000456801.2_Missense_Mutation_p.G359E|SOGA1_ENST00000237536.4_Missense_Mutation_p.G756E			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	518					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTTAGAGAGCCCCTGGGAGCC	0.507													ENSG00000149639																																					0													98.0	106.0	103.0					20																	35443578		1980	4165	6145	SO:0001583	missense	0			-	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1553G>A	20.37:g.35443578C>T	ENSP00000350424:p.Gly518Glu		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_SOGA	p.G756E	ENST00000357779.3	37	c.2267		20	.	.	.	.	.	.	.	.	.	.	C	8.946	0.966938	0.18659	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.16073	2.37;2.37;2.38;2.38	5.2	4.19	0.49359	.	0.501524	0.21634	N	0.071421	T	0.15132	0.0365	N	0.22421	0.69	0.33378	D	0.574526	D	0.62365	0.991	P	0.59424	0.857	T	0.16897	-1.0387	10	0.02654	T	1	-57.5324	5.1952	0.15233	0.0:0.7527:0.0:0.2473	.	518	O94964-4	.	E	756;518;359;518	ENSP00000237536:G756E;ENSP00000279034:G518E;ENSP00000413886:G359E;ENSP00000350424:G518E	ENSP00000237536:G756E	G	-	2	0	KIAA0889	34876992	0.996000	0.38824	0.985000	0.45067	0.518000	0.34316	2.067000	0.41461	2.706000	0.92434	0.561000	0.74099	GGG	-	SOGA1	-	NULL		0.507	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		0	0		48	48		0.00		C	NM_199181		35443578	-1	28		52		tier1	no_errors	ENST00000237536	ensembl	human	known	74_37	missense	35.00		SNP	0.983	T	28	52
GLI1	2735	genome.wustl.edu	37	12	57859444	57859444	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57859444G>A	ENST00000228682.2	+	6	680	c.589G>A	c.(589-591)Ggt>Agt	p.G197S	GLI1_ENST00000546141.1_Missense_Mutation_p.G156S|GLI1_ENST00000543426.1_Missense_Mutation_p.G69S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	197					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCCTTGGAAGGTGATATGTC	0.557													ENSG00000111087																									Pancreas(157;841 1936 10503 41495 50368)												0													81.0	70.0	73.0					12																	57859444		2203	4300	6503	SO:0001583	missense	0			-		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.589G>A	12.37:g.57859444G>A	ENSP00000228682:p.Gly197Ser		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G197S	ENST00000228682.2	37	c.589	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618023	0.66787	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.74315	-0.83;2.69;2.62;2.7;2.7	4.2	4.2	0.49525	.	0.000000	0.52532	D	0.000080	T	0.66086	0.2754	L	0.48642	1.525	0.80722	D	1	B	0.18741	0.03	B	0.20577	0.03	T	0.61073	-0.7136	10	0.09843	T	0.71	.	15.826	0.78706	0.0:0.0:1.0:0.0	.	197	P08151	GLI1_HUMAN	S	69;69;197;156;156;69	ENSP00000436671:G69S;ENSP00000437607:G69S;ENSP00000228682:G197S;ENSP00000441006:G156S;ENSP00000434408:G156S	ENSP00000228682:G197S	G	+	1	0	GLI1	56145711	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.145000	0.89625	2.344000	0.79699	0.591000	0.81541	GGT	-	GLI1	-	NULL		0.557	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	0	0		29	29		0.00		G	NM_005269		57859444	+1	23		25		tier1	no_errors	ENST00000228682	ensembl	human	known	74_37	missense	47.92		SNP	1.000	A	23	25
NUP188	23511	genome.wustl.edu	37	9	131755834	131755834	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:131755834C>A	ENST00000372577.2	+	27	2899	c.2878C>A	c.(2878-2880)Cat>Aat	p.H960N		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	960					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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GAGCTGTCTCCATGCAGTGCT	0.552													ENSG00000095319																																					0													189.0	168.0	175.0					9																	131755834		2203	4300	6503	SO:0001583	missense	0			-	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2878C>A	9.37:g.131755834C>A	ENSP00000361658:p.His960Asn		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.H960N	ENST00000372577.2	37	c.2878	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205620	0.39003	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.30981	1.51	5.55	5.55	0.83447	.	0.213520	0.49916	D	0.000127	T	0.30262	0.0759	L	0.40543	1.245	0.41012	D	0.985012	B;B	0.22080	0.064;0.011	B;B	0.18263	0.021;0.01	T	0.03818	-1.1001	10	0.49607	T	0.09	-29.8728	18.8488	0.92218	0.0:1.0:0.0:0.0	.	293;960	E9PET9;Q5SRE5	.;NU188_HUMAN	N	849;960	ENSP00000361658:H960N	ENSP00000349125:H849N	H	+	1	0	NUP188	130795655	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	4.394000	0.59671	2.767000	0.95098	0.655000	0.94253	CAT	-	NUP188	-	superfamily_ARM-type_fold		0.552	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	0	0		47	47		0.00		C			131755834	+1	14		25		tier1	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	35.90		SNP	1.000	A	14	25
FGF18	8817	genome.wustl.edu	37	5	170883570	170883570	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:170883570T>C	ENST00000274625.5	+	5	929	c.385T>C	c.(385-387)Ttc>Ctc	p.F129L		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	129					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|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)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGAGTGTGTGTTCATCGAGAA	0.567													ENSG00000156427																																					0													83.0	79.0	80.0					5																	170883570		2203	4300	6503	SO:0001583	missense	0			-	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.385T>C	5.37:g.170883570T>C	ENSP00000274625:p.Phe129Leu		D3DQL7|Q6UWF1	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.F129L	ENST00000274625.5	37	c.385	CCDS4378.1	5	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637838	0.87760	.	.	ENSG00000156427	ENST00000274625	D	0.96619	-4.07	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.92970	3.365	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.99253	1.0888	10	0.59425	D	0.04	-5.7582	14.8488	0.70281	0.0:0.0:0.0:1.0	.	129	O76093	FGF18_HUMAN	L	129	ENSP00000274625:F129L	ENSP00000274625:F129L	F	+	1	0	FGF18	170816175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	1.997000	0.58415	0.533000	0.62120	TTC	-	FGF18	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.567	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	0	0		50	50		0.00		T	NM_033649, NM_003862		170883570	+1	17		44		tier1	no_errors	ENST00000274625	ensembl	human	known	74_37	missense	27.87		SNP	1.000	C	17	44
PTPRR	5801	genome.wustl.edu	37	12	71155319	71155319	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:71155319G>A	ENST00000283228.2	-	4	1011	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	PTPRR_ENST00000342084.4_Missense_Mutation_p.R75C	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	187					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)		TTAAGTGAACGAAGAACTTCC	0.368													ENSG00000153233																																					0													144.0	141.0	142.0					12																	71155319		2203	4300	6503	SO:0001583	missense	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.559C>T	12.37:g.71155319G>A	ENSP00000283228:p.Arg187Cys		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	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.R187C	ENST00000283228.2	37	c.559	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875566	0.72180	.	.	ENSG00000153233	ENST00000283228;ENST00000342084	T;T	0.40756	1.02;1.02	5.48	4.6	0.57074	.	0.155280	0.30510	U	0.009471	T	0.41096	0.1144	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53861	0.736;0.549	T	0.36335	-0.9752	10	0.72032	D	0.01	-6.338	10.0152	0.42010	0.0716:0.0:0.791:0.1374	.	75;187	F5GXR7;Q15256	.;PTPRR_HUMAN	C	187;75	ENSP00000283228:R187C;ENSP00000339605:R75C	ENSP00000283228:R187C	R	-	1	0	PTPRR	69441586	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	6.064000	0.71169	1.327000	0.45338	0.448000	0.29417	CGT	-	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5		0.368	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	0	0		96	96		0.00		G	NM_002849		71155319	-1	39		69		tier1	no_errors	ENST00000283228	ensembl	human	known	74_37	missense	36.11		SNP	0.951	A	39	69
VRK1	7443	genome.wustl.edu	37	14	97313613	97313613	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:97313613C>T	ENST00000216639.3	+	5	455	c.306C>T	c.(304-306)acC>acT	p.T102T		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GGATTCGTACCCGTAAGCTGA	0.318													ENSG00000100749																																					0													100.0	99.0	99.0					14																	97313613		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.306C>T	14.37:g.97313613C>T			Q3SYL2	Silent	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.T102	ENST00000216639.3	37	c.306	CCDS9947.1	14																																																																																			-	VRK1	-	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		0.318	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRK1	HGNC	protein_coding	OTTHUMT00000413520.1	0	0		107	107		0.00		C	NM_003384		97313613	+1	35		54		tier1	no_errors	ENST00000216639	ensembl	human	known	74_37	silent	39.33		SNP	1.000	T	35	54
MTUS2	23281	genome.wustl.edu	37	13	30062139	30062139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:30062139C>T	ENST00000380808.2	+	4	655	c.439C>T	c.(439-441)Caa>Taa	p.Q147*	MTUS2-AS1_ENST00000323380.5_RNA|MTUS2_ENST00000542829.1_Nonsense_Mutation_p.Q57*|MTUS2_ENST00000431530.3_Nonsense_Mutation_p.Q1178*|MTUS2-AS1_ENST00000587588.1_RNA	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1168						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCACAAAGTCCAAGGTAGCTC	0.572													ENSG00000132938																																					0													78.0	80.0	80.0					13																	30062139		2071	4222	6293	SO:0001587	stop_gained	0			-	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.439C>T	13.37:g.30062139C>T	ENSP00000370186:p.Gln147*		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	NULL	p.Q1178*	ENST00000380808.2	37	c.3532	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.668852	0.98422	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	.	.	.	4.58	4.58	0.56647	.	0.390736	0.30686	N	0.009081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2083	0.65748	0.0:1.0:0.0:0.0	.	.	.	.	X	1178;147;57;104	.	.	Q	+	1	0	MTUS2	28960139	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.497000	0.45354	2.378000	0.81104	0.561000	0.74099	CAA	-	MTUS2	-	NULL		0.572	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	0	0		33	33		0.00		C	XM_166270		30062139	+1	4		19		tier1	no_errors	ENST00000431530	ensembl	human	known	74_37	nonsense	16.00		SNP	1.000	T	4	19
FAM227B	196951	genome.wustl.edu	37	15	49833903	49833903	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:49833903C>T	ENST00000299338.6	-	10	1151	c.848G>A	c.(847-849)gGg>gAg	p.G283E	FAM227B_ENST00000561064.1_Missense_Mutation_p.G249E	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	283																	AATGTTATTCCCTAGATCTTC	0.294													ENSG00000166262																																					0													72.0	77.0	75.0					15																	49833903		2196	4288	6484	SO:0001583	missense	0			-		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.848G>A	15.37:g.49833903C>T	ENSP00000299338:p.Gly283Glu		Q86WS2	Missense_Mutation	SNP	NULL	p.G283E	ENST00000299338.6	37	c.848	CCDS32237.1	15	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924619	0.52653	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	5.7	3.55	0.40652	.	0.247350	0.28327	N	0.015745	T	0.73806	0.3634	M	0.65975	2.015	0.53005	D	0.999966	D;D	0.71674	0.998;0.994	D;P	0.69142	0.962;0.86	T	0.72928	-0.4143	9	0.34782	T	0.22	-17.4095	12.7852	0.57500	0.4191:0.5809:0.0:0.0	.	249;283	Q96M60-2;Q96M60	.;CO033_HUMAN	E	283;249	.	ENSP00000299338:G283E	G	-	2	0	C15orf33	47621195	0.796000	0.28864	0.956000	0.39512	0.948000	0.59901	1.386000	0.34419	1.331000	0.45412	0.643000	0.83706	GGG	-	FAM227B	-	NULL		0.294	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	0	0		234	234		0.00		C	NM_152647		49833903	-1	85		71		tier1	no_errors	ENST00000299338	ensembl	human	known	74_37	missense	54.49		SNP	0.745	T	85	71
DTHD1	401124	genome.wustl.edu	37	4	36317997	36317997	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:36317997C>T	ENST00000456874.2	+	7	1912	c.1854C>T	c.(1852-1854)gtC>gtT	p.V618V	DTHD1_ENST00000507598.1_Silent_p.V658V|RP11-431M7.2_ENST00000504344.1_RNA|DTHD1_ENST00000357504.3_Silent_p.V453V	NM_001170700.2	NP_001164171.1	Q6ZMT9	DTHD1_HUMAN	death domain containing 1	618					signal transduction (GO:0007165)					breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|stomach(1)	8						GCACCATTGTCGTTTATAAAG	0.358													ENSG00000197057																																					0													94.0	87.0	89.0					4																	36317997		692	1591	2283	SO:0001819	synonymous_variant	0			-	AK094684	CCDS54754.1	4p14	2009-10-02			ENSG00000197057	ENSG00000197057			37261	protein-coding gene	gene with protein product							Standard	NM_001170700		Approved	FLJ16686	uc021xne.2	Q6ZMT9	OTTHUMG00000160371	ENST00000456874.2:c.1854C>T	4.37:g.36317997C>T			B2RXK4|B4E2N7	Silent	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain	p.V618	ENST00000456874.2	37	c.1854	CCDS54754.1	4																																																																																			-	DTHD1	-	NULL		0.358	DTHD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DTHD1	HGNC	protein_coding		0	0		125	125		0.00		C	NM_001136536		36317997	+1	24		144		tier1	no_errors	ENST00000456874	ensembl	human	known	74_37	silent	14.20		SNP	0.003	T	24	144
ANKRD35	148741	genome.wustl.edu	37	1	145561829	145561829	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:145561829A>C	ENST00000355594.4	+	10	1604	c.1517A>C	c.(1516-1518)aAg>aCg	p.K506T		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	506										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCGAGAAAAGGATGCTGCC	0.617													ENSG00000198483																									Melanoma(9;127 754 22988 51047)												0													90.0	106.0	100.0					1																	145561829		2203	4300	6503	SO:0001583	missense	0			-	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1517A>C	1.37:g.145561829A>C	ENSP00000347802:p.Lys506Thr		A6NEU0|B4DL62|Q3MJ10|Q96LS3	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.K506T	ENST00000355594.4	37	c.1517	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	a	15.74	2.923130	0.52653	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.70749	-0.51	5.23	5.23	0.72850	.	0.000000	0.52532	D	0.000072	T	0.77935	0.4205	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80948	-0.1154	10	0.66056	D	0.02	-36.651	11.4426	0.50105	1.0:0.0:0.0:0.0	.	506	Q8N283	ANR35_HUMAN	T	415;506	ENSP00000347802:K506T	ENSP00000347802:K506T	K	+	2	0	ANKRD35	144273186	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.864000	0.62990	2.196000	0.70406	0.529000	0.55759	AAG	-	ANKRD35	-	NULL		0.617	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	0	0		48	48		0.00		A	NM_144698		145561829	+1	31		60		tier1	no_errors	ENST00000355594	ensembl	human	known	74_37	missense	34.07		SNP	1.000	C	31	60
TTLL9	164395	genome.wustl.edu	37	20	30458924	30458924	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:30458924G>A	ENST00000375938.4	+	2	248		c.e2-1		DUSP15_ENST00000339738.5_5'Flank|TTLL9_ENST00000535842.1_Splice_Site|TTLL9_ENST00000375921.2_Splice_Site|DUSP15_ENST00000493115.1_5'Flank|DUSP15_ENST00000486996.1_5'Flank|DUSP15_ENST00000398083.1_5'Flank|DUSP15_ENST00000375966.4_5'Flank|DUSP15_ENST00000398084.2_5'Flank|DUSP15_ENST00000278979.3_5'Flank|TTLL9_ENST00000310998.4_Splice_Site			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9						cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCGGCCCCTAGGAGGGATGGT	0.542													ENSG00000131044																																					0													131.0	135.0	134.0					20																	30458924		1972	4156	6128	SO:0001630	splice_region_variant	0			-	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.-5-1G>A	20.37:g.30458924G>A			A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Splice_Site	SNP	-	e1-1	ENST00000375938.4	37	c.1-1	CCDS42863.1	20																																																																																			-	TTLL9	-	-		0.542	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		0	0		31	31		0.00		G	NM_001008409	Intron	30458924	+1	10		22		tier1	no_errors	ENST00000375938	ensembl	human	known	74_37	splice_site	31.25		SNP	0.000	A	10	22
CACNA1C	775	genome.wustl.edu	37	12	2693781	2693781	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:2693781C>T	ENST00000347598.4	+	16	2337	c.2337C>T	c.(2335-2337)gcC>gcT	p.A779A	CACNA1C_ENST00000399638.1_Silent_p.A779A|CACNA1C_ENST00000399634.1_Silent_p.A779A|CACNA1C_ENST00000399655.1_Silent_p.A779A|CACNA1C_ENST00000399591.1_Silent_p.A779A|CACNA1C_ENST00000399601.1_Silent_p.A779A|CACNA1C_ENST00000344100.3_Silent_p.A779A|CACNA1C_ENST00000399637.1_Silent_p.A779A|CACNA1C_ENST00000399649.1_Silent_p.A779A|CACNA1C_ENST00000399629.1_Silent_p.A779A|CACNA1C_ENST00000402845.3_Silent_p.A779A|CACNA1C_ENST00000399597.1_Silent_p.A779A|CACNA1C_ENST00000327702.7_Silent_p.A779A|CACNA1C_ENST00000335762.5_Silent_p.A804A|CACNA1C_ENST00000480911.1_Silent_p.A779A|CACNA1C_ENST00000399644.1_Silent_p.A779A|CACNA1C_ENST00000399595.1_Silent_p.A779A|CACNA1C_ENST00000399641.1_Silent_p.A779A|CACNA1C_ENST00000399621.1_Silent_p.A779A|CACNA1C_ENST00000399603.1_Silent_p.A779A|CACNA1C_ENST00000399606.1_Silent_p.A779A|CACNA1C_ENST00000406454.3_Silent_p.A779A|CACNA1C_ENST00000399617.1_Silent_p.A779A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	779					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	agaagCTGGCCAGGTAACCCT	0.562													ENSG00000151067																																					0													60.0	67.0	65.0					12																	2693781		1951	4164	6115	SO:0001819	synonymous_variant	0			-	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2337C>T	12.37:g.2693781C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A779	ENST00000347598.4	37	c.2337	CCDS44788.1	12																																																																																			-	CAC1C	-	NULL		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CAC1C	HGNC	protein_coding	OTTHUMT00000317035.1	0	0		65	65		0.00		C	NM_000719		2693781	+1	23		31		tier1	no_errors	ENST00000399634	ensembl	human	known	74_37	silent	42.59		SNP	1.000	T	23	31
PAM	5066	genome.wustl.edu	37	5	102201875	102201875	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:102201875C>T	ENST00000438793.3	+	0	446				PAM_ENST00000274392.9_5'UTR|PAM_ENST00000455264.2_5'UTR|PAM_ENST00000304400.7_5'UTR|PAM_ENST00000348126.2_5'UTR|PAM_ENST00000346918.2_5'UTR|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000513648.1_3'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase						central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CGGTCCTCTCCCGGCGGGGTC	0.692													ENSG00000145730																																					0													32.0	31.0	31.0					5																	102201875		2202	4295	6497	SO:0001623	5_prime_UTR_variant	0			-	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.-25C>T	5.37:g.102201875C>T			A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	R	SNP	-	NULL	ENST00000438793.3	37	NULL	CCDS54885.1	5																																																																																			-	PAM	-	-		0.692	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	0	0		32	32		0.00		C	NM_000919		102201875	+1	10		44		tier1	no_errors	ENST00000509523	ensembl	human	known	74_37	rna	18.52		SNP	0.035	T	10	44
PRKACG	5568	genome.wustl.edu	37	9	71628256	71628256	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:71628256G>A	ENST00000377276.2	-	1	783	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		I -> N. {ECO:0000269|PubMed:17344846}.		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCCCAGAGACGATCTTCTCGT	0.612													ENSG00000165059																									Esophageal Squamous(110;2236 2623 32146)												0													75.0	76.0	76.0					9																	71628256		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.753C>T	9.37:g.71628256G>A			O60850|Q5VZ02|Q86YI1	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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I251	ENST00000377276.2	37	c.753	CCDS6625.1	9																																																																																			-	PRKACG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.612	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	HGNC	protein_coding	OTTHUMT00000052559.1	0	0		16	16		0.00		G			71628256	-1	7		9		tier1	no_errors	ENST00000377276	ensembl	human	known	74_37	silent	43.75		SNP	0.998	A	7	9
ABO	28	genome.wustl.edu	37	9	136131317	136131317	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136131317C>T	ENST00000453660.2	-	0	811				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CGAAGAACCCCCCCAGGTAGT	0.677													ENSG00000175164																																					0													20.0	23.0	22.0					9																	136131317		1962	4128	6090			0			-	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131317C>T			B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	R	SNP	-	NULL	ENST00000453660.2	37	NULL		9																																																																																			-	ABO	-	-		0.677	ABO-001	KNOWN	basic	processed_transcript	ABO	HGNC	processed_transcript	OTTHUMT00000054907.4	0	0		65	65		0.00		C	NM_020469		136131317	-1	24		61		tier1	no_errors	ENST00000453660	ensembl	human	known	74_37	rna	28.24		SNP	0.003	T	24	61
CYSLTR2	57105	genome.wustl.edu	37	13	49281074	49281074	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:49281074T>C	ENST00000282018.3	+	1	124	c.121T>C	c.(121-123)Ttc>Ctc	p.F41L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	41					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAGAGAATTTTTCCCAATTGT	0.393													ENSG00000152207																																					0													83.0	88.0	86.0					13																	49281074		2203	4300	6503	SO:0001583	missense	0			-	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.121T>C	13.37:g.49281074T>C	ENSP00000282018:p.Phe41Leu		Q9HCQ2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt	p.F41L	ENST00000282018.3	37	c.121	CCDS9412.1	13	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790507	0.50102	.	.	ENSG00000152207	ENST00000282018	T	0.28666	1.6	6.08	6.08	0.98989	.	0.089817	0.46145	D	0.000301	T	0.15609	0.0376	N	0.08118	0	0.39271	D	0.964399	B	0.17667	0.023	B	0.14023	0.01	T	0.10222	-1.0639	10	0.02654	T	1	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	41	Q9NS75	CLTR2_HUMAN	L	41	ENSP00000282018:F41L	ENSP00000282018:F41L	F	+	1	0	CYSLTR2	48179075	1.000000	0.71417	0.999000	0.59377	0.254000	0.26022	6.007000	0.70731	2.333000	0.79357	0.533000	0.62120	TTC	-	CYSLTR2	-	pfam_TAS2_rcpt,prints_GPCR_Rhodpsn,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt		0.393	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	HGNC	protein_coding	OTTHUMT00000044894.1	0	0		57	57		0.00		T			49281074	+1	7		41		tier1	no_errors	ENST00000282018	ensembl	human	known	74_37	missense	14.58		SNP	1.000	C	7	41
TRPV2	51393	genome.wustl.edu	37	17	16342250	16342250	+	IGR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:16342250C>T	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAAATCGTTACTTGGCGGAAA	0.572													ENSG00000175061																																					0																																										SO:0001628	intergenic_variant	0			-	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342250C>T			A6NML2|A8K0Z0|Q9Y670	R	SNP	-	NULL	ENST00000338560.7	37	NULL	CCDS32576.1	17																																																																																			-	C17orf76-AS1	-	-		0.572	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf76-AS1	HGNC	protein_coding	OTTHUMT00000130464.2	0	0		10	10		0.00		C	NM_016113		16342250	+1	13		7		tier1	no_errors	ENST00000584177	ensembl	human	known	74_37	rna	65.00		SNP	0.000	T	13	7
SPANXD	64648	genome.wustl.edu	37	X	140786496	140786496	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:140786496C>T	ENST00000370515.3	-	1	400	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	23						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CTTACCATCTCGTTGGCCTCG	0.517													ENSG00000196406																																					0													3.0	3.0	3.0					X																	140786496		1397	2773	4170	SO:0001583	missense	0			-	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.67G>A	X.37:g.140786496C>T	ENSP00000359546:p.Glu23Lys		Q5JWI1	Missense_Mutation	SNP	pfam_SPANX_prot	p.E23K	ENST00000370515.3	37	c.67	CCDS14675.1	X	.	.	.	.	.	.	.	.	.	.	C	5.331	0.246435	0.10130	.	.	ENSG00000196406	ENST00000370515	T	0.09255	3.0	.	.	.	.	.	.	.	.	T	0.07413	0.0187	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.35201	-0.9798	6	0.45353	T	0.12	.	.	.	.	.	23	Q9BXN6	SPNXD_HUMAN	K	23	ENSP00000359546:E23K	ENSP00000359546:E23K	E	-	1	0	SPANXD	140614162	0.032000	0.19561	0.004000	0.12327	0.004000	0.04260	0.650000	0.24858	0.080000	0.16959	0.081000	0.15443	GAG	-	SPANXD	-	pfam_SPANX_prot		0.517	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXD	HGNC	protein_coding	OTTHUMT00000058598.1	0	0		75	75		0.00		C			140786496	-1	59		28		tier1	no_errors	ENST00000370515	ensembl	human	known	74_37	missense	67.82		SNP	0.004	T	59	28
TTLL3	26140	genome.wustl.edu	37	3	9876576	9876576	+	Silent	SNP	C	C	T	rs539081979		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:9876576C>T	ENST00000547186.1	+	12	2124	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000426895.4_Silent_p.I779I|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000430793.1_Silent_p.I424I|ARPC4-TTLL3_ENST00000397256.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	636					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACCCAGCATCCTGAAGCCAA	0.612													ENSG00000214021	C|||	1	0.000199681	0.0	0.0	5008	,	,		20539	0.0		0.0	False		,,,				2504	0.001																0													82.0	84.0	83.0					3																	9876576		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1908C>T	3.37:g.9876576C>T			Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	pfam_TTL/TTLL_fam	p.I779	ENST00000547186.1	37	c.2337		3																																																																																			-	TTLL3	-	NULL		0.612	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		0	0		36	36		0.00		C	NM_001025930.2		9876576	+1	13		47		tier1	no_errors	ENST00000426895	ensembl	human	known	74_37	silent	21.67		SNP	0.154	T	13	47
LINC00311	197196	genome.wustl.edu	37	16	85316776	85316776	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:85316776C>T	ENST00000366314.4	+	0	213					NR_038859.1		Q8N616	TM148_HUMAN	long intergenic non-protein coding RNA 311																		CTTGGATGGCCCAACCTGGGA	0.617													ENSG00000179219																																					0																																												0			-	BC030801		16q24.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000179219	ENSG00000179219		"""Long non-coding RNAs"""	28312	non-coding RNA	RNA, long non-coding			"""transmembrane protein 148"", ""non-protein coding RNA 311"""	TMEM148, NCRNA00311		12477932	Standard	NR_038859		Approved	MGC22001	uc021tmc.1	Q8N616	OTTHUMG00000137643		16.37:g.85316776C>T				R	SNP	-	NULL	ENST00000366314.4	37	NULL		16																																																																																			-	LINC00311	-	-		0.617	LINC00311-001	KNOWN	basic	lincRNA	LINC00311	HGNC	lincRNA	OTTHUMT00000269085.1	0	0		65	65		0.00		C	XR_017879		85316776	+1	49		27		tier1	no_errors	ENST00000366314	ensembl	human	known	74_37	rna	64.47		SNP	0.001	T	49	27
TMEM108	66000	genome.wustl.edu	37	3	133099029	133099029	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:133099029C>T	ENST00000321871.6	+	4	684	c.474C>T	c.(472-474)ccC>ccT	p.P158P	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Silent_p.P158P|TMEM108_ENST00000515826.1_Silent_p.P158P	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	158	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGCGCCCCCCCGCACTACCA	0.706													ENSG00000144868																																					0													11.0	15.0	13.0					3																	133099029		2193	4281	6474	SO:0001819	synonymous_variant	0			-	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.474C>T	3.37:g.133099029C>T			D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP	NULL	p.P158	ENST00000321871.6	37	c.474	CCDS33858.1	3																																																																																			-	TMEM108	-	NULL		0.706	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	0	0		16	16		0.00		C	NM_023943		133099029	+1	10		17		tier1	no_errors	ENST00000321871	ensembl	human	known	74_37	silent	37.04		SNP	0.000	T	10	17
BEND4	389206	genome.wustl.edu	37	4	42122234	42122234	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:42122234C>T	ENST00000502486.1	-	5	1803	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	BEND4_ENST00000504360.1_Silent_p.K404K	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	408	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCCCATCTTTCTTTGAAGAAT	0.443													ENSG00000188848																																					0													114.0	115.0	115.0					4																	42122234		1923	4137	6060	SO:0001819	synonymous_variant	0			-	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1224G>A	4.37:g.42122234C>T			A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	pfam_BEN_domain	p.K408	ENST00000502486.1	37	c.1224	CCDS47048.1	4																																																																																			-	BEND4	-	NULL		0.443	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2	0	0		30	30		0.00		C	NM_207406		42122234	-1	20		28		tier1	no_errors	ENST00000502486	ensembl	human	known	74_37	silent	41.67		SNP	1.000	T	20	28
SORL1	6653	genome.wustl.edu	37	11	121478885	121478885	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:121478885G>A	ENST00000260197.7	+	38	5368	c.5239G>A	c.(5239-5241)Gtg>Atg	p.V1747M	SORL1_ENST00000534286.1_Splice_Site_p.V657M|SORL1_ENST00000525532.1_Splice_Site_p.V691M|SORL1_ENST00000532694.1_Splice_Site_p.V593M|SORL1_ENST00000527934.1_Splice_Site_p.V362M	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1747					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)		AAAAGGAAAAGGTAAATGATC	0.368													ENSG00000137642																																					0													79.0	75.0	77.0					11																	121478885		2202	4299	6501	SO:0001630	splice_region_variant	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.5239+1G>A	11.37:g.121478885G>A			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.V1747M	ENST00000260197.7	37	c.5239	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583418	0.65992	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.91740	-2.9;-2.64;-2.27;-2.3;-2.18	5.13	5.13	0.70059	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.510615	0.19902	N	0.103481	D	0.87779	0.6263	L	0.29908	0.895	0.80722	D	1	P;B	0.36733	0.567;0.162	B;B	0.33890	0.165;0.172	D	0.88254	0.2918	10	0.54805	T	0.06	.	18.1752	0.89759	0.0:0.0:1.0:0.0	.	362;1747	E9PKB0;Q92673	.;SORL_HUMAN	M	1747;691;593;657;362	ENSP00000260197:V1747M;ENSP00000434634:V691M;ENSP00000432131:V593M;ENSP00000436447:V657M;ENSP00000435405:V362M	ENSP00000260197:V1747M	V	+	1	0	SORL1	120984095	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.510000	0.81708	2.381000	0.81170	0.462000	0.41574	GTG	-	SORL1	-	smart_Fibronectin_type3		0.368	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	0	0		95	95		0.00		G	NM_003105	Missense_Mutation	121478885	+1	39		84		tier1	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	31.71		SNP	1.000	A	39	84
ZNF234	10780	genome.wustl.edu	37	19	44660468	44660468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44660468G>A	ENST00000426739.2	+	6	557	c.299G>A	c.(298-300)tGg>tAg	p.W100*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.W100*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	100	KRNB.				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)				GAGCTTTACTGGGGGCAAATC	0.453													ENSG00000263002																																					0													89.0	91.0	91.0					19																	44660468		1992	4210	6202	SO:0001587	stop_gained	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.299G>A	19.37:g.44660468G>A	ENSP00000400878:p.Trp100*		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W100*	ENST00000426739.2	37	c.299	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614377	0.87359	.	.	ENSG00000167380	ENST00000426739	.	.	.	3.9	0.438	0.16560	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.6558	0.17642	0.1947:0.1622:0.6431:0.0	.	.	.	.	X	100	.	ENSP00000400878:W100X	W	+	2	0	ZNF226	49352308	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.666000	0.05280	0.085000	0.17107	-0.218000	0.12543	TGG	-	ZNF234	-	NULL		0.453	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	0	0		50	50		0.00		G			44660468	+1	7		41		tier1	no_errors	ENST00000426739	ensembl	human	known	74_37	nonsense	14.58		SNP	0.000	A	7	41
EIF4G1	1981	genome.wustl.edu	37	3	184039474	184039474	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:184039474G>A	ENST00000346169.2	+	10	1373	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	EIF4G1_ENST00000411531.1_Missense_Mutation_p.E328K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E368K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E368K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E281K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E204K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E375K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E281K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E328K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E172K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E375K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E172K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E204K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E375K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	368					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCCCATCTGAAGATCTGGA	0.557													ENSG00000114867																																					0													121.0	127.0	125.0					3																	184039474		2203	4300	6503	SO:0001583	missense	0			-	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1102G>A	3.37:g.184039474G>A	ENSP00000316879:p.Glu368Lys		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E375K	ENST00000346169.2	37	c.1123	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997848	0.74818	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	3.95;3.93;3.88;2.87;2.87;3.95;3.04;3.75;3.95;3.86;3.95;3.95;3.95;3.94;2.42;3.74;3.72;0.81;3.7	5.5	5.5	0.81552	.	0.293072	0.33712	N	0.004627	T	0.53061	0.1773	L	0.27053	0.805	0.42711	D	0.993648	B;B;P;P	0.52842	0.18;0.18;0.956;0.651	B;B;D;B	0.65010	0.06;0.06;0.931;0.165	T	0.37842	-0.9688	10	0.20519	T	0.43	-10.7264	16.2625	0.82553	0.0:0.0:1.0:0.0	.	375;368;368;375	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	K	368;328;281;368;375;375;309;204;375;281;368;368;375;328;204;204;172;172;172	ENSP00000316879:E368K;ENSP00000391935:E328K;ENSP00000376320:E281K;ENSP00000391412:E368K;ENSP00000413159:E375K;ENSP00000371767:E375K;ENSP00000403269:E309K;ENSP00000317600:E204K;ENSP00000338020:E375K;ENSP00000407682:E281K;ENSP00000343450:E368K;ENSP00000323737:E368K;ENSP00000416255:E375K;ENSP00000395974:E328K;ENSP00000398145:E204K;ENSP00000399858:E204K;ENSP00000411826:E172K;ENSP00000399969:E172K;ENSP00000404754:E172K	ENSP00000323737:E368K	E	+	1	0	EIF4G1	185522168	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.445000	0.66594	2.861000	0.98227	0.655000	0.94253	GAA	-	EIF4G1	-	NULL		0.557	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	0	0		47	47		0.00		G	NM_182917		184039474	+1	10		62		tier1	no_errors	ENST00000352767	ensembl	human	known	74_37	missense	13.70		SNP	0.995	A	10	62
WLS	79971	genome.wustl.edu	37	1	68616031	68616031	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:68616031A>G	ENST00000262348.4	-	6	1065	c.812T>C	c.(811-813)tTt>tCt	p.F271S	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.F180S|WLS_ENST00000354777.2_Missense_Mutation_p.F269S|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Missense_Mutation_p.F271S	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	271					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CCCAAGGGCAAAGATGACTCT	0.438													ENSG00000116729																																					0													91.0	88.0	89.0					1																	68616031		2203	4300	6503	SO:0001583	missense	0			-	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.812T>C	1.37:g.68616031A>G	ENSP00000262348:p.Phe271Ser		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.F271S	ENST00000262348.4	37	c.812	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432836	0.83776	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.24	5.24	0.73138	.	0.152379	0.64402	D	0.000014	T	0.47414	0.1444	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D	0.76494	0.973;0.977;0.999;0.973	P;P;D;P	0.68483	0.809;0.829;0.958;0.809	T	0.38286	-0.9668	10	0.29301	T	0.29	-22.6589	15.1576	0.72755	1.0:0.0:0.0:0.0	.	271;180;271;269	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	S	271;269;271;180	ENSP00000446112:F271S;ENSP00000346829:F269S;ENSP00000262348:F271S;ENSP00000360015:F180S	ENSP00000262348:F271S	F	-	2	0	WLS	68388619	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	8.730000	0.91510	1.987000	0.57996	0.460000	0.39030	TTT	-	WLS	-	NULL		0.438	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	0	0		56	56		0.00		A	NM_024911		68616031	-1	24		41		tier1	no_errors	ENST00000540432	ensembl	human	known	74_37	missense	36.36		SNP	1.000	G	24	41
ADRA2C	152	genome.wustl.edu	37	4	3769700	3769700	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:3769700G>A	ENST00000330055.5	+	1	1576	c.1367G>A	c.(1366-1368)aGg>aAg	p.R456K	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	456					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCCGACGGAGGAGAAGGGGC	0.622													ENSG00000184160																									Esophageal Squamous(12;454 628 4517 14479)												0													21.0	25.0	23.0					4																	3769700		2091	4222	6313	SO:0001583	missense	0			-	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1367G>A	4.37:g.3769700G>A	ENSP00000386069:p.Arg456Lys		P35369|Q9HB49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.R456K	ENST00000330055.5	37	c.1367	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460231	0.12342	.	.	ENSG00000184160	ENST00000330055	T	0.35236	1.32	3.93	2.97	0.34412	.	.	.	.	.	T	0.22399	0.0540	N	0.26042	0.785	0.28095	N	0.931643	B	0.06786	0.001	B	0.04013	0.001	T	0.09185	-1.0686	9	0.23891	T	0.37	.	6.6747	0.23087	0.1955:0.0:0.8045:0.0	.	456	P18825	ADA2C_HUMAN	K	456	ENSP00000386069:R456K	ENSP00000386069:R456K	R	+	2	0	ADRA2C	3739498	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.470000	0.53100	2.003000	0.58678	0.655000	0.94253	AGG	-	ADRA2C	-	prints_ADRA2C_rcpt		0.622	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	0	0		59	59		0.00		G	NM_000683		3769700	+1	19		46		tier1	no_errors	ENST00000330055	ensembl	human	known	74_37	missense	29.23		SNP	1.000	A	19	46
C6orf201	404220	genome.wustl.edu	37	6	4087832	4087832	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:4087832C>T	ENST00000380175.4	+	0	722				FAM217A_ENST00000380188.2_5'Flank|C6orf201_ENST00000430835.2_5'UTR|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Intron	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201											central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TGTAAGAAGCCGGAAAACTGT	0.488													ENSG00000185689																																					0													138.0	149.0	145.0					6																	4087832		1938	4154	6092	SO:0001623	5_prime_UTR_variant	0			-	BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.-44C>T	6.37:g.4087832C>T			A6NLI6|Q6NXN5	R	SNP	-	NULL	ENST00000380175.4	37	NULL	CCDS43419.1	6																																																																																			-	C6orf201	-	-		0.488	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	C6orf201	HGNC	protein_coding	OTTHUMT00000314019.2	0	0		57	57		0.00		C	NM_001085401		4087832	+1	34		48		tier1	no_errors	ENST00000360378	ensembl	human	known	74_37	rna	41.46		SNP	0.000	T	34	48
CELF5	60680	genome.wustl.edu	37	19	3282380	3282380	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3282380C>T	ENST00000292672.2	+	8	960	c.923C>T	c.(922-924)aCc>aTc	p.T308I	CELF5_ENST00000541430.2_Intron|CELF5_ENST00000588101.1_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	308					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CTGGGCACCACCGCTGTGCCT	0.662													ENSG00000161082																																					0													61.0	49.0	53.0					19																	3282380		2203	4300	6503	SO:0001583	missense	0			-	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.923C>T	19.37:g.3282380C>T	ENSP00000292672:p.Thr308Ile		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T308I	ENST00000292672.2	37	c.923	CCDS12106.1	19	.	.	.	.	.	.	.	.	.	.	C	8.425	0.847254	0.17034	.	.	ENSG00000161082	ENST00000292672;ENST00000334293	T;T	0.30714	2.25;1.52	4.6	3.48	0.39840	.	0.428167	0.25338	N	0.031384	T	0.19525	0.0469	N	0.19112	0.55	0.34319	D	0.6863	B;B	0.27068	0.035;0.167	B;B	0.29598	0.056;0.104	T	0.22347	-1.0219	10	0.48119	T	0.1	-0.7374	9.3122	0.37912	0.1586:0.6867:0.1546:0.0	.	194;308	B4DFI3;Q8N6W0	.;CELF5_HUMAN	I	308;194	ENSP00000292672:T308I;ENSP00000335182:T194I	ENSP00000292672:T308I	T	+	2	0	CELF5	3233380	0.911000	0.30947	0.006000	0.13384	0.332000	0.28634	5.644000	0.67902	2.279000	0.76181	0.561000	0.74099	ACC	-	CELF5	-	NULL		0.662	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELF5	HGNC	protein_coding	OTTHUMT00000452574.1	0	0		24	24		0.00		C	NM_021938		3282380	+1	7		31		tier1	no_errors	ENST00000292672	ensembl	human	known	74_37	missense	18.42		SNP	0.012	T	7	31
GATAD2A	54815	genome.wustl.edu	37	19	19612117	19612117	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:19612117G>A	ENST00000360315.3	+	9	1704	c.1392G>A	c.(1390-1392)aaG>aaA	p.K464K	GATAD2A_ENST00000252577.5_Silent_p.K464K|GATAD2A_ENST00000404158.1_Silent_p.K465K|GATAD2A_ENST00000537887.1_Silent_p.K93K|GATAD2A_ENST00000429563.2_Silent_p.K292K|GATAD2A_ENST00000358713.3_Silent_p.K464K	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	464	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTTTGTGAAGGCGCTGCAGC	0.647													ENSG00000167491																																					0													30.0	25.0	27.0					19																	19612117		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1392G>A	19.37:g.19612117G>A			B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.K464	ENST00000360315.3	37	c.1392	CCDS12402.2	19	.	.	.	.	.	.	.	.	.	.	G	9.927	1.213887	0.22289	.	.	ENSG00000167491	ENST00000418032	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	T	0.64204	0.2577	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61946	-0.6958	4	.	.	.	-17.7971	12.1912	0.54273	0.0838:0.0:0.9162:0.0	.	.	.	.	S	91	.	.	G	+	1	0	GATAD2A	19473117	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.732000	0.47352	2.584000	0.87258	0.645000	0.84053	GGC	-	GATAD2A	-	NULL		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	HGNC	protein_coding	OTTHUMT00000326671.4	0	0		35	35		0.00		G	NM_017660		19612117	+1	10		50		tier1	no_errors	ENST00000358713	ensembl	human	known	74_37	silent	16.67		SNP	1.000	A	10	50
HECTD4	283450	genome.wustl.edu	37	12	112696565	112696565	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:112696565C>T	ENST00000430131.2	-	19	2877				HECTD4_ENST00000377560.5_Intron|RP3-521E19.2_ENST00000547401.1_RNA|HECTD4_ENST00000550722.1_Intron			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CATTATTTTACTTAATGCTGT	0.343													ENSG00000257494																																					0																																										SO:0001627	intron_variant	0			-	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1732-165G>A	12.37:g.112696565C>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	R	SNP	-	NULL	ENST00000430131.2	37	NULL		12																																																																																			-	RP3-521E19.2	-	-		0.343	HECTD4-202	KNOWN	basic	protein_coding	ENSG00000257494	Clone_based_vega_gene	protein_coding		0	0		22	22		0.00		C	NM_173813		112696565	+1	9		9		tier1	no_errors	ENST00000547401	ensembl	human	known	74_37	rna	50.00		SNP	0.000	T	9	9
DVL1	1855	genome.wustl.edu	37	1	1275689	1275689	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:1275689G>A	ENST00000378888.5	-	7	991	c.707C>T	c.(706-708)tCc>tTc	p.S236F	DVL1_ENST00000378891.5_Missense_Mutation_p.S236F			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	236					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTGCTGAAGGAGGAGGCCTA	0.662													ENSG00000107404																																					0													133.0	117.0	122.0					1																	1275689		2202	4297	6499	SO:0001583	missense	0			-	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.707C>T	1.37:g.1275689G>A	ENSP00000368166:p.Ser236Phe		Q5TA33|Q5TA35	Missense_Mutation	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.S236F	ENST00000378888.5	37	c.707		1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279643	0.59758	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.40225	1.04;1.04	3.61	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.73839	-0.3856	10	0.87932	D	0	.	15.868	0.79080	0.0:0.0:1.0:0.0	.	236	O14640-2	.	F	236	ENSP00000368169:S236F;ENSP00000368166:S236F	ENSP00000368166:S236F	S	-	2	0	DVL1	1265552	1.000000	0.71417	0.997000	0.53966	0.203000	0.24098	9.431000	0.97494	2.038000	0.60285	0.456000	0.33151	TCC	-	DVL1	-	superfamily_PDZ		0.662	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	0	0		57	57		0.00		G	NM_004421		1275689	-1	27		39		tier1	no_errors	ENST00000378888	ensembl	human	known	74_37	missense	40.91		SNP	1.000	A	27	39
ZNF862	643641	genome.wustl.edu	37	7	149547268	149547268	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149547268C>T	ENST00000223210.4	+	5	1203	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	320					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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TGCAGAGGGGCTGTCGGAGGA	0.617													ENSG00000106479																																					0													67.0	73.0	71.0					7																	149547268		2071	4227	6298	SO:0001819	synonymous_variant	0			-	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.958C>T	7.37:g.149547268C>T			A0AUL8	Silent	SNP	pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.L320	ENST00000223210.4	37	c.958	CCDS47741.1	7																																																																																			-	ZNF862	-	NULL		0.617	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	0	0		80	80		0.00		C	NM_001099220		149547268	+1	30		105		tier1	no_errors	ENST00000223210	ensembl	human	known	74_37	silent	21.90		SNP	0.173	T	30	105
C2orf71	388939	genome.wustl.edu	37	2	29295748	29295748	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:29295748C>T	ENST00000331664.5	-	1	1379	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	460					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGACCCCAATCCCAAAGGAAT	0.557													ENSG00000179270																																					0													83.0	87.0	85.0					2																	29295748		1992	4172	6164	SO:0001819	synonymous_variant	0			-		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1380G>A	2.37:g.29295748C>T				Silent	SNP	NULL	p.G460	ENST00000331664.5	37	c.1380	CCDS42669.1	2																																																																																			-	C2orf71	-	NULL		0.557	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	0	0		69	69		0.00		C	NM_001029883		29295748	-1	20		53		tier1	no_errors	ENST00000331664	ensembl	human	known	74_37	silent	27.40		SNP	0.000	T	20	53
MN1	4330	genome.wustl.edu	37	22	28147004	28147004	+	Missense_Mutation	SNP	C	C	T	rs370142548		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:28147004C>T	ENST00000302326.4	-	2	4816	c.3862G>A	c.(3862-3864)Gac>Aac	p.D1288N	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1288					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCACCCACGTCGTCTGTGCAG	0.602			T	ETV6	"""AML, meningioma"""								ENSG00000169184																												Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0								C	ASN/ASP	0,4186		0,0,2093	68.0	76.0	73.0		3862	4.1	1.0	22		73	1,8427		0,1,4213	no	missense	MN1	NM_002430.2	23	0,1,6306	TT,TC,CC		0.0119,0.0,0.0079	possibly-damaging	1288/1321	28147004	1,12613	2093	4214	6307	SO:0001583	missense	0			-	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3862G>A	22.37:g.28147004C>T	ENSP00000304956:p.Asp1288Asn		A9Z1V9	Missense_Mutation	SNP	NULL	p.D1288N	ENST00000302326.4	37	c.3862	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165537	0.78339	0.0	1.19E-4	ENSG00000169184	ENST00000302326	T	0.48522	0.81	4.07	4.07	0.47477	.	0.078854	0.47852	D	0.000204	T	0.32406	0.0828	N	0.14661	0.345	0.35529	D	0.80208	P	0.38642	0.641	B	0.35607	0.206	T	0.53816	-0.8385	10	0.66056	D	0.02	-20.6181	16.1297	0.81418	0.0:1.0:0.0:0.0	.	1288	Q10571	MN1_HUMAN	N	1288	ENSP00000304956:D1288N	ENSP00000304956:D1288N	D	-	1	0	MN1	26477004	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.134000	0.77268	2.187000	0.69744	0.561000	0.74099	GAC	-	MN1	-	NULL		0.602	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	0	0		45	45		0.00		C	NM_002430		28147004	-1	19		35		tier1	no_errors	ENST00000302326	ensembl	human	known	74_37	missense	35.19		SNP	1.000	T	19	35
CELSR2	1952	genome.wustl.edu	37	1	109813237	109813250	+	Intron	DEL	TCCCAGTCTTGGGG	TCCCAGTCTTGGGG	-	rs184505313|rs189469730|rs181538634|rs200794625|rs111491315|rs79668084	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	TCCCAGTCTTGGGG	TCCCAGTCTTGGGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:109813237_109813250delTCCCAGTCTTGGGG	ENST00000271332.3	+	24	7544					NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2						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)		TCCCACCCATTCCCAGTCTTGGGGTCCCACATCC	0.617													ENSG00000143126		1905	0.380391	0.1702	0.464	5008	,	,		19795	0.495		0.4791	False		,,,				2504	0.3855				NSCLC(158;1285 2011 34800 34852 42084)												0										839,3425		95,649,1388						-5.7	0.0		dbSNP_132	42	3646,4580		858,1930,1325	no	intron	CELSR2	NM_001408.2		953,2579,2713	A1A1,A1R,RR		44.3229,19.6764,35.9087				4485,8005				SO:0001627	intron_variant	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.7483+15TCCCAGTCTTGGGG>-	1.37:g.109813237_109813250delTCCCAGTCTTGGGG			Q5T2Y7|Q92566	R	DEL	-	NULL	ENST00000271332.3	37	NULL	CCDS796.1	1																																																																																				CELSR2	-	-		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1									TCCCAGTCTTGGGG	NM_001408		109813250	+1					tier1	no_errors	ENST00000489018	ensembl	human	known	74_37	rna			DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.000:0.000:0.024:0.003:0.001:0.000	-		
CCDC108	255101	genome.wustl.edu	37	2	219883821	219883821	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219883821G>A	ENST00000341552.5	-	21	3637	c.3554C>T	c.(3553-3555)tCc>tTc	p.S1185F	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1185F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1185F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1185						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATACCACGGAAGGTGGGGC	0.602													ENSG00000181378																																					0													84.0	94.0	91.0					2																	219883821		2203	4300	6503	SO:0001583	missense	0			-	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3554C>T	2.37:g.219883821G>A	ENSP00000340776:p.Ser1185Phe		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.S1185F	ENST00000341552.5	37	c.3554	CCDS2430.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.656665|1.656665	0.29425|0.29425	.|.	.|.	ENSG00000181378|ENSG00000181378	ENST00000413871|ENST00000341552;ENST00000441968;ENST00000453220	.|T;T;T	.|0.06068	.|3.35;3.35;3.35	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.000000	.|0.41605	.|D	.|0.000848	T|T	0.08935|0.08935	0.0221|0.0221	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	.|P	.|0.38370	.|0.628	.|P	.|0.44772	.|0.46	T|T	0.31475|0.31475	-0.9942|-0.9942	5|10	.|0.15952	.|T	.|0.53	-19.6305|-19.6305	10.9598|10.9598	0.47379|0.47379	0.0866:0.0:0.9134:0.0|0.0866:0.0:0.9134:0.0	.|.	.|1185	.|Q6ZU64	.|CC108_HUMAN	S|F	94|1185	.|ENSP00000340776:S1185F;ENSP00000413377:S1185F;ENSP00000409117:S1185F	.|ENSP00000340776:S1185F	P|S	-|-	1|2	0|0	CCDC108|CCDC108	219592065|219592065	1.000000|1.000000	0.71417|0.71417	0.333000|0.333000	0.25482|0.25482	0.160000|0.160000	0.22226|0.22226	5.128000|5.128000	0.64733|0.64733	2.453000|2.453000	0.82957|0.82957	0.561000|0.561000	0.74099|0.74099	CCG|TCC	-	CCDC108	-	NULL		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	0	0		57	57		0.00		G	NM_194302		219883821	-1	7		49		tier1	no_errors	ENST00000341552	ensembl	human	known	74_37	missense	12.50		SNP	0.957	A	7	49
KCNH8	131096	genome.wustl.edu	37	3	19575380	19575380	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:19575380C>T	ENST00000328405.2	+	16	3379	c.3113C>T	c.(3112-3114)tCg>tTg	p.S1038L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1038	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCTCCTCTTCGGAAACATCT	0.468													ENSG00000183960																									NSCLC(124;1625 1765 8018 24930 42026)												0													145.0	140.0	142.0					3																	19575380		2203	4300	6503	SO:0001583	missense	0			-	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3113C>T	3.37:g.19575380C>T	ENSP00000328813:p.Ser1038Leu		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tR-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.S1038L	ENST00000328405.2	37	c.3113	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209570	0.58343	.	.	ENSG00000183960	ENST00000328405	D	0.99136	-5.47	5.5	5.5	0.81552	.	0.000000	0.28279	U	0.015928	D	0.98943	0.9641	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.99840	1.1061	9	.	.	.	.	19.3841	0.94550	0.0:1.0:0.0:0.0	.	1038	Q96L42	KCNH8_HUMAN	L	1038	ENSP00000328813:S1038L	.	S	+	2	0	KCNH8	19550384	0.994000	0.37717	0.759000	0.31340	0.366000	0.29705	5.677000	0.68142	2.590000	0.87494	0.655000	0.94253	TCG	-	KCNH8	-	NULL		0.468	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	0	0		29	29		0.00		C	NM_144633		19575380	+1	8		28		tier1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	22.22		SNP	0.982	T	8	28
POTEF	728378	genome.wustl.edu	37	2	130869582	130869582	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:130869582C>T	ENST00000409914.2	-	6	1302	c.903G>A	c.(901-903)ctG>ctA	p.L301L	POTEF_ENST00000361163.4_Silent_p.L311L|RNU6-1049P_ENST00000516414.1_RNA|AC018804.3_ENST00000433507.1_RNA|POTEF_ENST00000357462.5_Silent_p.L301L|POTEF_ENST00000360967.5_Silent_p.L301L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	301					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CATATCTATCCAGTGCATTTA	0.318													ENSG00000196604																																					0													29.0	39.0	36.0					2																	130869582		2017	4207	6224	SO:0001819	synonymous_variant	0			-	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.903G>A	2.37:g.130869582C>T			A6NC34	Silent	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.L301	ENST00000409914.2	37	c.903	CCDS46409.1	2																																																																																			-	POTEF	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.318	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	0	0		152	152		0.00		C	NM_001099771		130869582	-1	106		94		tier1	no_errors	ENST00000357462	ensembl	human	known	74_37	silent	53.00		SNP	0.000	T	106	94
SEC16B	89866	genome.wustl.edu	37	1	177930030	177930030	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:177930030G>A	ENST00000308284.6	-	7	921	c.832C>T	c.(832-834)Cct>Tct	p.P278S	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.P279S	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	278					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGAACATGAGGGATGTAGAAC	0.517													ENSG00000120341																																					0													71.0	77.0	75.0					1																	177930030		2110	4239	6349	SO:0001583	missense	0			-	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.832C>T	1.37:g.177930030G>A	ENSP00000308339:p.Pro278Ser		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.P278S	ENST00000308284.6	37	c.832	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637693	0.47049	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.44482	0.92;0.92	5.75	3.82	0.43975	Sec16, central conserved domain (1);	0.088495	0.49916	N	0.000128	T	0.53981	0.1830	M	0.82823	2.61	0.51012	D	0.999904	P;D;B	0.52996	0.926;0.957;0.187	P;P;B	0.49853	0.624;0.624;0.192	T	0.62690	-0.6801	10	0.66056	D	0.02	-10.8319	11.5354	0.50634	0.0685:0.1248:0.8068:0.0	.	279;279;278	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	S	278;279	ENSP00000308339:P278S;ENSP00000431727:P279S	ENSP00000308339:P278S	P	-	1	0	AL359075.1	176196653	1.000000	0.71417	0.894000	0.35097	0.203000	0.24098	4.234000	0.58658	1.434000	0.47414	0.655000	0.94253	CCT	-	SEC16B	-	NULL		0.517	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	0	0		66	66		0.00		G	NM_033127		177930030	-1	19		68		tier1	no_errors	ENST00000308284	ensembl	human	known	74_37	missense	21.84		SNP	0.980	A	19	68
ABO	28	genome.wustl.edu	37	9	136131470	136131470	+	RNA	SNP	G	G	A	rs386739124		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136131470G>A	ENST00000453660.2	-	0	658				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CGTGGTCGCGGAACTCCATGT	0.647													ENSG00000175164																																					0													29.0	35.0	33.0					9																	136131470		2168	4250	6418			0			-	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131470G>A			B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	R	SNP	-	NULL	ENST00000453660.2	37	NULL		9																																																																																			-	ABO	-	-		0.647	ABO-001	KNOWN	basic	processed_transcript	ABO	HGNC	processed_transcript	OTTHUMT00000054907.4	0	0		48	48		0.00		G	NM_020469		136131470	-1	32		38		tier1	no_errors	ENST00000453660	ensembl	human	known	74_37	rna	45.71		SNP	0.259	A	32	38
ZDHHC7	55625	genome.wustl.edu	37	16	85010006	85010006	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:85010006G>A	ENST00000313732.4	-	8	1222	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ZDHHC7_ENST00000569488.1_5'Flank|ZDHHC7_ENST00000564466.1_Silent_p.F327F	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	290					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						GCCTAAATCGGAAGCCCACAA	0.582													ENSG00000153786																																					0													56.0	66.0	63.0					16																	85010006		2199	4300	6499	SO:0001819	synonymous_variant	0			-	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.870C>T	16.37:g.85010006G>A			D3DUM1|Q8WV42|Q9NVD8	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.F327	ENST00000313732.4	37	c.981	CCDS10950.1	16																																																																																			-	ZDHHC7	-	NULL		0.582	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	HGNC	protein_coding	OTTHUMT00000269087.1	0	0		24	24		0.00		G	NM_017740		85010006	-1	18		9		tier1	no_errors	ENST00000344861	ensembl	human	known	74_37	silent	66.67		SNP	0.991	A	18	9
RABL3	285282	genome.wustl.edu	37	3	120408645	120408645	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:120408645C>T	ENST00000273375.3	-	0	765				RABL3_ENST00000483733.1_3'UTR|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3						small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ACTGCTTGCTCACTCTTCCAA	0.408													ENSG00000144840																																					0													106.0	104.0	104.0					3																	120408645		2203	4296	6499	SO:0001624	3_prime_UTR_variant	0			-	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.*25G>A	3.37:g.120408645C>T			Q8WUD3	R	SNP	-	NULL	ENST00000273375.3	37	NULL	CCDS3001.1	3																																																																																			-	RABL3	-	-		0.408	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL3	HGNC	protein_coding	OTTHUMT00000356776.1	0	0		52	52		0.00		C	NM_173825		120408645	-1	22		30		tier1	no_errors	ENST00000491398	ensembl	human	known	74_37	rna	42.31		SNP	0.739	T	22	30
MBD3	53615	genome.wustl.edu	37	19	1585070	1585070	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1585070G>A	ENST00000434436.3	-	2	383	c.254C>T	c.(253-255)tCc>tTc	p.S85F	UQCR11_ENST00000585937.1_3'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000156825.1_Missense_Mutation_p.S85F|MBD3_ENST00000590550.2_Missense_Mutation_p.S29F|MBD3_ENST00000592012.1_Missense_Mutation_p.S53F|MBD3_ENST00000585967.1_5'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	85					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTTGGAGGAGTCGTAGCG	0.647													ENSG00000071655																																					0													85.0	56.0	66.0					19																	1585070		2203	4300	6503	SO:0001583	missense	0			-	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.254C>T	19.37:g.1585070G>A	ENSP00000412302:p.Ser85Phe		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	pfam_Methyl_CpG_D-bd,superfamily_D-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd	p.S85F	ENST00000434436.3	37	c.254	CCDS12072.1	19	.	.	.	.	.	.	.	.	.	.	G	5.720	0.317327	0.10845	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.96334	-3.98	5.09	4.01	0.46588	Methyl-CpG DNA binding (1);DNA-binding, integrase-type (1);	0.339330	0.33980	N	0.004368	D	0.92061	0.7484	L	0.36672	1.1	0.39792	D	0.972447	P;B	0.36315	0.547;0.19	B;B	0.37888	0.26;0.125	D	0.89692	0.3898	10	0.10111	T	0.7	-36.464	11.588	0.50929	0.0:0.4025:0.5975:0.0	.	53;85	O95983-2;O95983	.;MBD3_HUMAN	F	53;85	ENSP00000156825:S85F	ENSP00000156825:S85F	S	-	2	0	MBD3	1536070	1.000000	0.71417	0.918000	0.36340	0.505000	0.33919	2.113000	0.41902	2.373000	0.80994	0.462000	0.41574	TCC	-	MBD3	-	superfamily_D-bd_dom		0.647	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	0	0		15	15		0.00		G	NM_003926		1585070	-1	6		19		tier1	no_errors	ENST00000156825	ensembl	human	known	74_37	missense	24.00		SNP	0.911	A	6	19
EIF4E1B	253314	genome.wustl.edu	37	5	176070156	176070156	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:176070156C>T	ENST00000318682.6	+	4	673	c.89C>T	c.(88-90)cCc>cTc	p.P30L	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.P30L	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	30					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGGACGCCCACAGGAGAA	0.597													ENSG00000175766																																					0													41.0	52.0	49.0					5																	176070156		2020	4181	6201	SO:0001583	missense	0			-		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.89C>T	5.37:g.176070156C>T	ENSP00000323714:p.Pro30Leu			Missense_Mutation	SNP	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	p.P30L	ENST00000318682.6	37	c.89	CCDS47345.1	5	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113799	0.37339	.	.	ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597	T;T	0.41065	1.01;1.01	4.51	-2.62	0.06152	Translation Initiation factor eIF- 4e-like  domain (1);	.	.	.	.	T	0.18841	0.0452	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17198	-1.0377	9	0.35671	T	0.21	.	1.0496	0.01577	0.1419:0.2759:0.3007:0.2816	.	30	A6NMX2	I4E1B_HUMAN	L	30	ENSP00000323714:P30L;ENSP00000427633:P30L	ENSP00000323714:P30L	P	+	2	0	EIF4E1B	176002762	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.665000	0.01965	-0.297000	0.08934	0.561000	0.74099	CCC	-	EIF4E1B	-	superfamily_TIF_eIF4e-like_dom		0.597	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E1B	HGNC	protein_coding	OTTHUMT00000372187.1	0	0		28	28		0.00		C	NM_001099408		176070156	+1	16		28		tier1	no_errors	ENST00000318682	ensembl	human	known	74_37	missense	36.36		SNP	0.000	T	16	28
PDE4A	5141	genome.wustl.edu	37	19	10577614	10577614	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10577614C>T	ENST00000352831.6	+	15	2088	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	PDE4A_ENST00000380702.2_Missense_Mutation_p.L638F|PDE4A_ENST00000293683.5_Missense_Mutation_p.L634F|PDE4A_ENST00000344979.3_Missense_Mutation_p.L421F|PDE4A_ENST00000592685.1_Missense_Mutation_p.L638F|PDE4A_ENST00000440014.2_Missense_Mutation_p.L599F	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	660	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGGGCGGACCTTGTCCACCC	0.572													ENSG00000065989																																					0													56.0	61.0	59.0					19																	10577614		2203	4300	6503	SO:0001583	missense	0			-		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1978C>T	19.37:g.10577614C>T	ENSP00000270474:p.Leu660Phe		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L660F	ENST00000352831.6	37	c.1978	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	c	19.29	3.798417	0.70567	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	4.87	2.71	0.32032	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.134849	0.51477	D	0.000092	D	0.86239	0.5885	L	0.53729	1.69	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.997	D;D;D;D	0.97110	1.0;0.998;0.988;0.989	T	0.82305	-0.0523	10	0.32370	T	0.25	.	8.6013	0.33747	0.0:0.8048:0.0:0.1952	.	421;599;634;660	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	F	102;638;660;634;599;421	ENSP00000370078:L638F;ENSP00000270474:L660F;ENSP00000293683:L634F;ENSP00000394754:L599F;ENSP00000341007:L421F	ENSP00000293683:L634F	L	+	1	0	PDE4A	10438614	1.000000	0.71417	0.955000	0.39395	0.739000	0.42172	3.344000	0.52174	0.553000	0.29044	0.550000	0.68814	CTT	-	PDE4A	-	pfam_PDEase_catalytic_dom		0.572	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	0	0		48	48		0.00		C			10577614	+1	10		31		tier1	no_errors	ENST00000352831	ensembl	human	known	74_37	missense	24.39		SNP	1.000	T	10	31
USP6	9098	genome.wustl.edu	37	17	5042392	5042392	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:5042392C>T	ENST00000574788.1	+	22	3308				USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.P15S|USP6_ENST00000250066.6_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6						cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CACACCCCTCCCTCTGGGATC	0.662			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								ENSG00000129204																												Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													24.0	25.0	24.0					17																	5042392		876	1991	2867	SO:0001627	intron_variant	0			-	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1079-158C>T	17.37:g.5042392C>T			Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P15S	ENST00000574788.1	37	c.43	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	C	5.909	0.351875	0.11182	.	.	ENSG00000129204	ENST00000304328	T	0.13196	2.61	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	1	P	0.51449	0.945	P	0.56648	0.803	T	0.10520	-1.0626	7	0.87932	D	0	.	.	.	.	.	15	P35125-2	.	S	15	ENSP00000305473:P15S	ENSP00000305473:P15S	P	+	1	0	USP6	4983116	0.050000	0.20438	0.313000	0.25210	0.317000	0.28152	-0.177000	0.09796	0.132000	0.18615	0.134000	0.15878	CCT	-	USP6	-	NULL		0.662	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	0	0		81	81		0.00		C	NM_004505		5042392	+1	12		90		tier1	no_errors	ENST00000304328	ensembl	human	known	74_37	missense	11.76		SNP	0.332	T	12	90
CCT6B	10693	genome.wustl.edu	37	17	33266335	33266335	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33266335G>A	ENST00000314144.5	-	10	1195	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	CCT6B_ENST00000421975.3_Silent_p.F323F|CCT6B_ENST00000436961.3_Silent_p.F315F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	360					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CAATAAAAGTGAACTTTTCTT	0.328													ENSG00000132141																																					0													124.0	109.0	114.0					17																	33266335		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1080C>T	17.37:g.33266335G>A			B4DX20|B4DYB0|Q8TC34	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.F360	ENST00000314144.5	37	c.1080	CCDS32617.1	17																																																																																			-	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta		0.328	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	0	0		74	74		0.00		G	NM_006584		33266335	-1	30		46		tier1	no_errors	ENST00000314144	ensembl	human	known	74_37	silent	39.47		SNP	1.000	A	30	46
PDE12	201626	genome.wustl.edu	37	3	57543204	57543204	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:57543204G>A	ENST00000311180.8	+	1	1201	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	PDE12_ENST00000487257.1_Silent_p.E366E	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	366					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CCGCCCTAGAGGCCTTCGGGC	0.537													ENSG00000174840																									Colon(125;308 1634 19198 50622 50717)												0													46.0	48.0	47.0					3																	57543204		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1098G>A	3.37:g.57543204G>A			B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.E366	ENST00000311180.8	37	c.1098	CCDS33772.1	3																																																																																			-	PDE12	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.537	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	0	0		33	33		0.00		G	NM_177966		57543204	+1	18		38		tier1	no_errors	ENST00000311180	ensembl	human	known	74_37	silent	32.14		SNP	0.975	A	18	38
HIVEP1	3096	genome.wustl.edu	37	6	12164419	12164419	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:12164419G>A	ENST00000379388.2	+	9	8214	c.7882G>A	c.(7882-7884)Gat>Aat	p.D2628N	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D493N	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2628					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGCAAGGCTTGATGGCCTGAG	0.547													ENSG00000095951																																					0													52.0	59.0	57.0					6																	12164419		2085	4223	6308	SO:0001583	missense	0			-	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7882G>A	6.37:g.12164419G>A	ENSP00000368698:p.Asp2628Asn		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D2628N	ENST00000379388.2	37	c.7882	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278729	0.40294	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.32515	2.95;1.45	5.48	3.7	0.42460	.	0.710276	0.11591	N	0.548752	T	0.07324	0.0185	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.10450	0.005	T	0.38156	-0.9674	10	0.18276	T	0.48	-4.5967	7.7878	0.29101	0.1468:0.1335:0.7196:0.0	.	2628	P15822	ZEP1_HUMAN	N	2628;493;610	ENSP00000368698:D2628N;ENSP00000445617:D493N	ENSP00000368698:D2628N	D	+	1	0	HIVEP1	12272405	.	.	0.001000	0.08648	0.137000	0.21094	.	.	0.695000	0.31675	0.580000	0.79431	GAT	-	HIVEP1	-	NULL		0.547	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	0	0		31	31		0.00		G	NM_002114		12164419	+1	14		46		tier1	no_errors	ENST00000379388	ensembl	human	known	74_37	missense	23.33		SNP	0.000	A	14	46
GAL3ST2	64090	genome.wustl.edu	37	2	242741144	242741144	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:242741144G>A	ENST00000192314.6	+	3	250				AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2						biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGTTGGGCGGGGGTTGGGGCA	0.677													ENSG00000215023																																					0													16.0	18.0	18.0					2																	242741144		873	1989	2862	SO:0001627	intron_variant	0			-	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.120-52G>A	2.37:g.242741144G>A			Q17RK0|Q57Z52	R	SNP	-	NULL	ENST00000192314.6	37	NULL	CCDS33427.1	2																																																																																			-	AC114730.5	-	-		0.677	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000215023	Clone_based_vega_gene	protein_coding	OTTHUMT00000322792.1	0	0		17	17		0.00		G	NM_022134		242741144	-1	9		9		tier1	no_errors	ENST00000437438	ensembl	human	known	74_37	rna	50.00		SNP	0.000	A	9	9
PLEKHA7	144100	genome.wustl.edu	37	11	16876516	16876516	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:16876516G>A	ENST00000355661.3	-	6	452	c.442C>T	c.(442-444)Cac>Tac	p.H148Y	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.H148Y|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.H148Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	148					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCAAAGCTGTGGACTTTACTG	0.493													ENSG00000166689																																					0													115.0	106.0	109.0					11																	16876516		2200	4294	6494	SO:0001583	missense	0			-	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.442C>T	11.37:g.16876516G>A	ENSP00000347883:p.His148Tyr		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.H148Y	ENST00000355661.3	37	c.442	CCDS31434.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.146377	0.94603	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.63046	0.992;0.988	P;D	0.65684	0.88;0.937	T	0.00837	-1.1546	10	0.62326	D	0.03	-33.6042	18.8421	0.92188	0.0:0.0:1.0:0.0	.	148;148	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	Y	148;148;148;42	ENSP00000435389:H148Y;ENSP00000347883:H148Y;ENSP00000416895:H148Y;ENSP00000435806:H42Y	ENSP00000347883:H148Y	H	-	1	0	PLEKHA7	16833092	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.011000	0.93618	2.744000	0.94065	0.655000	0.94253	CAC	-	PLEKHA7	-	NULL		0.493	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	0	0		84	84		0.00		G	NM_175058		16876516	-1	14		75		tier1	no_errors	ENST00000448080	ensembl	human	known	74_37	missense	15.73		SNP	1.000	A	14	75
DHX8	1659	genome.wustl.edu	37	17	41570931	41570931	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:41570931G>T	ENST00000262415.3	+	7	1054	c.982G>T	c.(982-984)Ggg>Tgg	p.G328W	DHX8_ENST00000540306.1_Missense_Mutation_p.G328W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	328	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GTCCTTCACTGGGACCAAGAC	0.552													ENSG00000067596																									NSCLC(56;1548 1661 49258 49987)												0													163.0	142.0	149.0					17																	41570931		2203	4300	6503	SO:0001583	missense	0			-	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.982G>T	17.37:g.41570931G>T	ENSP00000262415:p.Gly328Trp			Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_R-bd_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_R-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G328W	ENST00000262415.3	37	c.982	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597298	0.87055	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.42131	0.98;0.98	5.71	5.71	0.89125	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.102550	0.64402	D	0.000002	T	0.57198	0.2037	L	0.60957	1.885	0.80722	D	1	P;P	0.48294	0.577;0.908	B;P	0.54431	0.431;0.752	T	0.58216	-0.7675	10	0.87932	D	0	.	18.8428	0.92190	0.0:0.0:1.0:0.0	.	328;328	F5H658;Q14562	.;DHX8_HUMAN	W	328	ENSP00000437886:G328W;ENSP00000262415:G328W	ENSP00000262415:G328W	G	+	1	0	DHX8	38926457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.407000	0.97325	2.697000	0.92050	0.655000	0.94253	GGG	-	DHX8	-	pfam_Rbsml_prot_S1_R-bd_dom,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,pfscan_Rbsml_prot_S1_R-bd_dom		0.552	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	0	0		46	46		0.00		G			41570931	+1	12		94		tier1	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	11.32		SNP	1.000	T	12	94
DIAPH2	1730	genome.wustl.edu	37	X	96213056	96213056	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:96213056C>T	ENST00000324765.8	+	16	2191	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L	DIAPH2_ENST00000373049.4_Missense_Mutation_p.P615L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P611L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P615L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P615L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	615	FH1.|Poly-Pro.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTTCCTCCTCCCCCAGGAATA	0.463													ENSG00000147202																																					0													57.0	56.0	56.0					X																	96213056		2203	4300	6503	SO:0001583	missense	0			-	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1844C>T	X.37:g.96213056C>T	ENSP00000321348:p.Pro615Leu		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.P615L	ENST00000324765.8	37	c.1844	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	7.596	0.671815	0.14776	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.02	1.2	0.21068	Actin-binding FH2 (1);	0.603893	0.16431	N	0.214702	T	0.29223	0.0727	M	0.78637	2.42	0.21861	N	0.999501	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.43147	-0.9409	10	0.08837	T	0.75	.	9.6174	0.39701	0.0:0.6135:0.0:0.3865	.	615;615	O60879;O60879-2	DIAP2_HUMAN;.	L	615;611;615;615;615;622	ENSP00000362152:P615L;ENSP00000362145:P611L;ENSP00000348082:P615L;ENSP00000362140:P615L;ENSP00000321348:P615L	ENSP00000321348:P615L	P	+	2	0	DIAPH2	96099712	0.028000	0.19301	0.000000	0.03702	0.001000	0.01503	1.076000	0.30729	-0.196000	0.10366	0.594000	0.82650	CCC	-	DIAPH2	-	NULL		0.463	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	0	0		56	56		0.00		C	NM_006729, NM_007309		96213056	+1	47		28		tier1	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	61.84		SNP	0.173	T	47	28
MASP1	5648	genome.wustl.edu	37	3	186944248	186944248	+	Missense_Mutation	SNP	G	G	A	rs530517293	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:186944248G>A	ENST00000337774.5	-	12	1891	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	501	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.P501Q(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACGTAGGGTCGGATCTTCCGG	0.567													ENSG00000127241	G|||	2	0.000399361	0.0	0.0	5008	,	,		19382	0.002		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											149.0	122.0	131.0					3																	186944248		2203	4300	6503	SO:0001583	missense	0			-	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1502C>T	3.37:g.186944248G>A	ENSP00000336792:p.Pro501Leu		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P501L	ENST00000337774.5	37	c.1502	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818192	0.32145	.	.	ENSG00000127241	ENST00000337774	D	0.83673	-1.75	5.86	3.13	0.36017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.68815	0.3042	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50533	-0.8817	9	0.11794	T	0.64	.	5.7078	0.17919	0.1613:0.0:0.6832:0.1556	.	501	P48740	MASP1_HUMAN	L	501	ENSP00000336792:P501L	ENSP00000336792:P501L	P	-	2	0	MASP1	188426942	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.194000	0.32174	0.400000	0.25396	0.563000	0.77884	CCG	-	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.567	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	0	0		40	40		0.00		G	NM_001879		186944248	-1	42		56		tier1	no_errors	ENST00000337774	ensembl	human	known	74_37	missense	42.86		SNP	0.000	A	42	56
MARCO	8685	genome.wustl.edu	37	2	119749371	119749371	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:119749371G>A	ENST00000327097.4	+	14	1262	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	MARCO_ENST00000541757.1_Missense_Mutation_p.G298E	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	376	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTGTGAAGGGAGAACAGGGG	0.577													ENSG00000019169																									GBM(8;18 374 7467 11269 32796)												0													30.0	30.0	30.0					2																	119749371		2197	4298	6495	SO:0001583	missense	0			-	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1127G>A	2.37:g.119749371G>A	ENSP00000318916:p.Gly376Glu		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G376E	ENST00000327097.4	37	c.1127	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749541	0.30955	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.99619	-6.28;-6.28	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.99796	0.9913	H	0.98199	4.17	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.97045	0.9760	9	.	.	.	.	15.2568	0.73591	0.0:0.0:1.0:0.0	.	376	Q9UEW3	MARCO_HUMAN	E	376;376;298	ENSP00000318916:G376E;ENSP00000441769:G298E	.	G	+	2	0	MARCO	119465841	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	4.506000	0.60428	2.735000	0.93741	0.655000	0.94253	GGA	-	MARCO	-	pfam_Collagen		0.577	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	0	0		57	57		0.00		G	NM_006770		119749371	+1	17		60		tier1	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	22.08		SNP	0.998	A	17	60
SLC4A10	57282	genome.wustl.edu	37	2	162751303	162751303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:162751303C>T	ENST00000446997.1	+	11	1402	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	SLC4A10_ENST00000535165.1_Silent_p.F407F|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.R407*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.R407*|SLC4A10_ENST00000375514.5_Nonsense_Mutation_p.R418*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.R437*|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	437					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCCAAGCATTCGAATAGAGCC	0.353													ENSG00000144290																																					0													125.0	117.0	120.0					2																	162751303		1820	4082	5902	SO:0001587	stop_gained	0			-		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1309C>T	2.37:g.162751303C>T	ENSP00000393066:p.Arg437*		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R437*	ENST00000446997.1	37	c.1309	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.373686	0.97515	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	.	.	.	5.37	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.551	0.76152	0.1393:0.8607:0.0:0.0	.	.	.	.	X	418;407;407;406;437;437;436	.	ENSP00000272716:R407X	R	+	1	2	SLC4A10	162459549	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.778000	0.47726	1.368000	0.46115	0.655000	0.94253	CGA	-	SLC4A10	-	superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk		0.353	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	0	0		100	100		0.00		C	NM_022058		162751303	+1	23		105		tier1	no_errors	ENST00000446997	ensembl	human	known	74_37	nonsense	17.97		SNP	1.000	T	23	105
FAM71C	196472	genome.wustl.edu	37	12	100042272	100042272	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:100042272G>A	ENST00000324341.1	+	1	742	c.320G>A	c.(319-321)aGa>aAa	p.R107K	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	107										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ACCCAGAAAAGAGAAAGTCCG	0.527													ENSG00000180219																																					0													78.0	81.0	80.0					12																	100042272		2203	4300	6503	SO:0001583	missense	0			-		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.320G>A	12.37:g.100042272G>A	ENSP00000315247:p.Arg107Lys		B2R6Y6	Missense_Mutation	SNP	pfam_DUF3699	p.R107K	ENST00000324341.1	37	c.320	CCDS9072.1	12	.	.	.	.	.	.	.	.	.	.	G	0	-2.607402	0.00121	.	.	ENSG00000180219	ENST00000324341	T	0.08896	3.04	3.76	-3.41	0.04839	.	1.553540	0.03918	N	0.283019	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.41574	-0.9501	9	.	.	.	-0.3311	6.6217	0.22806	0.5257:0.1299:0.3444:0.0	.	107	Q8NEG0	FA71C_HUMAN	K	107	ENSP00000315247:R107K	.	R	+	2	0	FAM71C	98566403	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.126000	0.15769	-1.220000	0.02594	-2.590000	0.00165	AGA	-	FAM71C	-	NULL		0.527	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71C	HGNC	protein_coding	OTTHUMT00000408458.1	0	0		32	32		0.00		G	NM_153364		100042272	+1	8		19		tier1	no_errors	ENST00000324341	ensembl	human	known	74_37	missense	29.63		SNP	0.000	A	8	19
IKZF2	22807	genome.wustl.edu	37	2	213878518	213878518	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:213878518C>T	ENST00000434687.1	-	8	1162	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	IKZF2_ENST00000457361.1_Missense_Mutation_p.V285M|IKZF2_ENST00000374327.4_Missense_Mutation_p.V140M|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.V213M|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.V291M|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Missense_Mutation_p.V259M			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	285					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGCTTACCCACAAACTTTTGT	0.393													ENSG00000030419																																					0													132.0	130.0	131.0					2																	213878518		2203	4300	6503	SO:0001583	missense	0			-	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.853G>A	2.37:g.213878518C>T	ENSP00000412869:p.Val285Met		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V285M	ENST00000434687.1	37	c.853	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424618	0.62733	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.20200	2.94;2.9;2.94;2.97;2.83;2.09	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	T	0.36248	0.0960	L	0.54323	1.7	0.80722	D	1	P;P;B;P;D	0.54047	0.874;0.919;0.11;0.895;0.964	B;P;B;P;P	0.52481	0.366;0.682;0.138;0.467;0.7	T	0.02244	-1.1189	10	0.54805	T	0.06	.	19.8269	0.96621	0.0:1.0:0.0:0.0	.	213;140;259;285;63	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	M	285;291;285;259;213;140	ENSP00000410447:V285M;ENSP00000342876:V291M;ENSP00000412869:V285M;ENSP00000363439:V259M;ENSP00000395203:V213M;ENSP00000363447:V140M	ENSP00000342876:V291M	V	-	1	0	IKZF2	213586763	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	4.620000	0.61226	2.765000	0.95021	0.555000	0.69702	GTG	-	IKZF2	-	NULL		0.393	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	0	0		100	100		0.00		C	NM_016260		213878518	-1	18		87		tier1	no_errors	ENST00000434687	ensembl	human	known	74_37	missense	17.14		SNP	1.000	T	18	87
WDR47	22911	genome.wustl.edu	37	1	109560161	109560161	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:109560161A>G	ENST00000369962.3	-	3	443	c.221T>C	c.(220-222)aTg>aCg	p.M74T	WDR47_ENST00000361054.3_Intron|WDR47_ENST00000369965.4_Missense_Mutation_p.M74T|WDR47_ENST00000400794.3_Missense_Mutation_p.M74T|WDR47_ENST00000357672.3_Intron			O94967	WDR47_HUMAN	WD repeat domain 47	74	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AAATTTTTCCATACATTCTAG	0.299													ENSG00000085433																																					0													65.0	71.0	69.0					1																	109560161		2203	4300	6503	SO:0001583	missense	0			-	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.221T>C	1.37:g.109560161A>G	ENSP00000358979:p.Met74Thr		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M74T	ENST00000369962.3	37	c.221	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166146	0.57476	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000369965;ENST00000530772;ENST00000529074;ENST00000528747	T;T;T	0.55588	0.51;0.54;0.51	5.97	5.97	0.96955	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	N	0.25647	0.755	0.80722	D	1	B;B;B	0.31290	0.213;0.213;0.318	B;B;B	0.29716	0.049;0.049;0.106	T	0.32798	-0.9893	10	0.87932	D	0	-23.1285	16.4473	0.83942	1.0:0.0:0.0:0.0	.	74;74;74	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	T	74;74;74;74;1;74	ENSP00000383599:M74T;ENSP00000358979:M74T;ENSP00000358982:M74T	ENSP00000358979:M74T	M	-	2	0	WDR47	109361684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.936000	0.92931	2.281000	0.76405	0.533000	0.62120	ATG	-	WDR47	-	smart_CTLH_C,pfscan_CTLH_C		0.299	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	0	0		46	46		0.00		A	NM_014969		109560161	-1	4		36		tier1	no_errors	ENST00000400794	ensembl	human	known	74_37	missense	10.00		SNP	1.000	G	4	36
INO80D	54891	genome.wustl.edu	37	2	206921091	206921091	+	Silent	SNP	G	G	A	rs374973871		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:206921091G>A	ENST00000403263.1	-	4	1199	c.795C>T	c.(793-795)ccC>ccT	p.P265P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	265					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ATGGCAGGAGGGGCAGAGGCC	0.572													ENSG00000114933																																					0								G		0,4162		0,0,2081	104.0	122.0	116.0		795	1.4	1.0	2		116	3,8379		0,3,4188	no	coding-synonymous	INO80D	NM_017759.4		0,3,6269	AA,AG,GG		0.0358,0.0,0.0239		265/1028	206921091	3,12541	2081	4191	6272	SO:0001819	synonymous_variant	0			-		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.795C>T	2.37:g.206921091G>A			B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	NULL	p.P265	ENST00000403263.1	37	c.795	CCDS46500.1	2																																																																																			-	INO80D	-	NULL		0.572	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	0	0		54	54		0.00		G	NM_017759		206921091	-1	18		51		tier1	no_errors	ENST00000403263	ensembl	human	known	74_37	silent	26.09		SNP	0.995	A	18	51
HNRNPD	3184	genome.wustl.edu	37	4	83280730	83280730	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:83280730G>A	ENST00000313899.7	-	3	630	c.353C>T	c.(352-354)tCc>tTc	p.S118F	HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000543098.1_Missense_Mutation_p.S66F|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.S99F|HNRNPD_ENST00000353341.4_Missense_Mutation_p.S118F	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	118	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						ACCAAATTTGGAAAAGTAGTC	0.378													ENSG00000138668																																					0													124.0	122.0	122.0					4																	83280730		2203	4300	6503	SO:0001583	missense	0			-	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.353C>T	4.37:g.83280730G>A	ENSP00000313199:p.Ser118Phe		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom	p.S118F	ENST00000313899.7	37	c.353	CCDS3592.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348575	0.82132	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822;ENST00000509107	D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.148331	0.64402	D	0.000007	D	0.93703	0.7988	M	0.88181	2.935	0.80722	D	1	D;D;D;P	0.63880	0.982;0.993;0.96;0.956	P;D;P;P	0.65443	0.891;0.935;0.891;0.905	D	0.93815	0.7113	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	99;118;99;118	Q14103-4;Q14103-3;Q14103-2;Q14103	.;.;.;HNRPD_HUMAN	F	118;118;99;66;93;51;118;20;99;72	ENSP00000313199:S118F;ENSP00000313327:S118F;ENSP00000305860:S99F;ENSP00000439380:S66F;ENSP00000420926:S51F;ENSP00000421952:S118F;ENSP00000426666:S20F;ENSP00000422615:S99F;ENSP00000425439:S72F	ENSP00000307544:S93F	S	-	2	0	HNRNPD	83499754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.413000	0.80104	2.937000	0.99478	0.650000	0.86243	TCC	-	HNRNPD	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.378	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	HGNC	protein_coding	OTTHUMT00000252630.2	0	0		45	45		0.00		G	NM_031370		83280730	-1	23		35		tier1	no_errors	ENST00000313899	ensembl	human	known	74_37	missense	39.66		SNP	1.000	A	23	35
IL1RN	3557	genome.wustl.edu	37	2	113888656	113888656	+	Silent	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:113888656T>A	ENST00000409930.3	+	3	304	c.240T>A	c.(238-240)gcT>gcA	p.A80A	IL1RN_ENST00000354115.2_Silent_p.A62A|IL1RN_ENST00000409052.1_Silent_p.A46A|IL1RN_ENST00000361779.3_Silent_p.A46A|IL1RN_ENST00000259206.5_Silent_p.A83A	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	80					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	AGCCTCATGCTCTGTTCTTGG	0.493									Lichen Sclerosis et Atrophicus, Familial Clustering of				ENSG00000136689																																					0													142.0	124.0	130.0					2																	113888656		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Lichen Sclerosis, Familial	-	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.240T>A	2.37:g.113888656T>A			A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Silent	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	p.A83	ENST00000409930.3	37	c.249	CCDS46396.1	2																																																																																			-	IL1RN	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1		0.493	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL1RN	HGNC	protein_coding	OTTHUMT00000330802.1	0	0		68	68		0.00		T	NM_173841		113888656	+1	20		52		tier1	no_errors	ENST00000259206	ensembl	human	known	74_37	silent	27.78		SNP	0.000	A	20	52
CKAP4	10970	genome.wustl.edu	37	12	106633476	106633476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:106633476G>A	ENST00000378026.4	-	2	1271	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	379						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GACTTCAGCTGGCGGAGCTCT	0.637													ENSG00000136026																																					0													38.0	41.0	40.0					12																	106633476		2203	4300	6503	SO:0001587	stop_gained	0			-	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1135C>T	12.37:g.106633476G>A	ENSP00000367265:p.Gln379*		Q504S5|Q53ES6	Nonsense_Mutation	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.Q379*	ENST00000378026.4	37	c.1135	CCDS9103.1	12	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021969	0.93462	.	.	ENSG00000136026	ENST00000378026	.	.	.	5.82	5.82	0.92795	.	0.422798	0.28225	N	0.016123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-27.4602	20.1086	0.97902	0.0:0.0:1.0:0.0	.	.	.	.	X	379	.	ENSP00000367265:Q379X	Q	-	1	0	CKAP4	105157606	1.000000	0.71417	0.177000	0.23020	0.609000	0.37215	5.245000	0.65405	2.756000	0.94617	0.563000	0.77884	CAG	-	CKAP4	-	superfamily_Tscrpt_elong_fac_GreA/B_N		0.637	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	0	0		37	37		0.00		G			106633476	-1	4		26		tier1	no_errors	ENST00000378026	ensembl	human	known	74_37	nonsense	13.33		SNP	0.785	A	4	26
POM121	9883	genome.wustl.edu	37	7	72419605	72419605	+	IGR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:72419605C>T	ENST00000434423.2	+	0	3750				NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000395270.1_3'UTR			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCTAGGTGTCCCTGCCCCGGG	0.632													ENSG00000106133																																					0													41.0	45.0	44.0					7																	72419605		2200	4300	6500	SO:0001628	intergenic_variant	0			-	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527		7.37:g.72419605C>T			A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	R	SNP	-	NULL	ENST00000434423.2	37	NULL		7																																																																																			-	NSUN5P2	-	-		0.632	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	NSUN5P2	HGNC	protein_coding	OTTHUMT00000347344.1	0	0		59	59		0.00		C			72419605	-1	31		70		tier1	no_errors	ENST00000388955	ensembl	human	known	74_37	rna	30.69		SNP	0.002	T	31	70
HESX1	8820	genome.wustl.edu	37	3	57232443	57232443	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:57232443C>T	ENST00000295934.3	-	3	471	c.435G>A	c.(433-435)ttG>ttA	p.L145L	HESX1_ENST00000473921.1_Intron	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	145					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		CCTCTAGATTCAATTTTTGAG	0.274													ENSG00000163666																									Esophageal Squamous(84;267 1272 9034 48993 52677)												0													47.0	50.0	49.0					3																	57232443		2200	4290	6490	SO:0001819	synonymous_variant	0			-	AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.435G>A	3.37:g.57232443C>T			Q52LC5|Q99667	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L145	ENST00000295934.3	37	c.435	CCDS2881.1	3																																																																																			-	HESX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.274	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HESX1	HGNC	protein_coding	OTTHUMT00000351430.2	0	0		122	122		0.00		C			57232443	-1	45		47		tier1	no_errors	ENST00000295934	ensembl	human	known	74_37	silent	48.91		SNP	1.000	T	45	47
AXL	558	genome.wustl.edu	37	19	41765783	41765783	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41765783G>A	ENST00000301178.4	+	20	2849	c.2659G>A	c.(2659-2661)Gcc>Acc	p.A887T	AXL_ENST00000359092.3_Missense_Mutation_p.A878T|HNRNPUL1_ENST00000595018.1_5'Flank|HNRNPUL1_ENST00000352456.3_5'Flank|AXL_ENST00000593513.1_Missense_Mutation_p.A619T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	887					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCCCAGCAGCCCCAGGGCA	0.627													ENSG00000167601																																					0													27.0	26.0	26.0					19																	41765783		2203	4300	6503	SO:0001583	missense	0			-	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2659G>A	19.37:g.41765783G>A	ENSP00000301178:p.Ala887Thr		Q8N5L2|Q9UD27	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A887T	ENST00000301178.4	37	c.2659	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121822	0.20877	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75260	-0.92;-0.85	4.68	1.32	0.21799	.	0.924729	0.09139	N	0.843306	T	0.49081	0.1536	N	0.08118	0	0.21627	N	0.999612	B;B	0.19200	0.034;0.02	B;B	0.21708	0.036;0.016	T	0.34601	-0.9822	10	0.09338	T	0.73	-0.4514	5.4186	0.16388	0.0:0.4368:0.3734:0.1898	.	878;887	P30530-2;P30530	.;UFO_HUMAN	T	887;878	ENSP00000301178:A887T;ENSP00000351995:A878T	ENSP00000301178:A887T	A	+	1	0	AXL	46457623	0.079000	0.21365	0.990000	0.47175	0.984000	0.73092	-0.576000	0.05854	0.192000	0.20272	-0.293000	0.09583	GCC	-	AXL	-	NULL		0.627	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	0	0		42	42		0.00		G			41765783	+1	8		35		tier1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	18.60		SNP	0.971	A	8	35
SH3TC1	54436	genome.wustl.edu	37	4	8221204	8221204	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:8221204C>T	ENST00000245105.3	+	9	1126	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	SH3TC1_ENST00000539824.1_Silent_p.G277G	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	353	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.									NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCCTCGGGCCGGGTGGGGT	0.687													ENSG00000125089																									NSCLC(145;2298 2623 35616 37297)												0													25.0	29.0	28.0					4																	8221204		2200	4298	6498	SO:0001819	synonymous_variant	0			-	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1059C>T	4.37:g.8221204C>T			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.G353	ENST00000245105.3	37	c.1059	CCDS3399.1	4																																																																																			-	SH3TC1	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.687	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	0	0		123	123		0.00		C	NM_018986		8221204	+1	84		121		tier1	no_errors	ENST00000245105	ensembl	human	known	74_37	silent	40.98		SNP	1.000	T	84	121
HIPK1	204851	genome.wustl.edu	37	1	114483816	114483816	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114483816T>C	ENST00000369558.1	+	2	1043	c.811T>C	c.(811-813)Ttg>Ctg	p.L271L	HIPK1_ENST00000369559.4_Silent_p.L271L|HIPK1_ENST00000369561.4_Silent_p.L271L|HIPK1_ENST00000369555.2_Silent_p.L271L|HIPK1_ENST00000369554.2_Silent_p.L271L|HIPK1_ENST00000426820.2_Silent_p.L271L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		TTTTGAAATGTTGGAGCAGAA	0.418													ENSG00000163349																																					0													90.0	88.0	88.0					1																	114483816		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.811T>C	1.37:g.114483816T>C			A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	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.L271	ENST00000369558.1	37	c.811	CCDS867.1	1																																																																																			-	HIPK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.418	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	0	0		51	51		0.00		T	NM_198268		114483816	+1	21		19		tier1	no_errors	ENST00000369558	ensembl	human	known	74_37	silent	51.22		SNP	1.000	C	21	19
FAM120A	23196	genome.wustl.edu	37	9	96318681	96318681	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:96318681C>T	ENST00000277165.6	+	13	2486	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P	FAM120A_ENST00000333936.5_Silent_p.P792P|FAM120A_ENST00000340893.4_Silent_p.P764P	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	764						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCTAGATCCCCGAGGAATTC	0.393													ENSG00000048828																																					0													109.0	114.0	112.0					9																	96318681		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2292C>T	9.37:g.96318681C>T			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	NULL	p.P792	ENST00000277165.6	37	c.2376	CCDS6706.1	9																																																																																			-	FAM120A	-	NULL		0.393	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	0	0		85	85		0.00		C	NM_014612		96318681	+1	17		55		tier1	no_errors	ENST00000333936	ensembl	human	known	74_37	silent	23.61		SNP	1.000	T	17	55
SEC16A	9919	genome.wustl.edu	37	9	139347927	139347927	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139347927G>A	ENST00000371706.3	-	20	5611	c.5578C>T	c.(5578-5580)Ctt>Ttt	p.L1860F	SEC16A_ENST00000398335.1_5'Flank|SEC16A_ENST00000313050.7_Missense_Mutation_p.L2038F|SEC16A_ENST00000431893.2_Missense_Mutation_p.L1860F|SEC16A_ENST00000290037.6_Missense_Mutation_p.L1860F			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1860	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGCTCGGAAAGTGAGTTTCCA	0.453													ENSG00000148396																																					0													86.0	89.0	88.0					9																	139347927		1917	4127	6044	SO:0001583	missense	0			-	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5578C>T	9.37:g.139347927G>A	ENSP00000360771:p.Leu1860Phe		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.L2038F	ENST00000371706.3	37	c.6112		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.891307|1.891307	0.33442|0.33442	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348|ENST00000433860	T;T;T;T;T;T|.	0.42900|.	1.98;0.96;1.54;1.98;1.98;1.98|.	4.84|4.84	2.96|2.96	0.34315|0.34315	.|.	0.709413|.	0.14297|.	N|.	0.328524|.	T|T	0.26846|0.26846	0.0657|0.0657	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.25850|.	0.136;0.065;0.004;0.002;0.031|.	B;B;B;B;B|.	0.23574|.	0.047;0.034;0.006;0.003;0.011|.	T|T	0.17077|0.17077	-1.0381|-1.0381	10|5	0.28530|.	T|.	0.3|.	-4.9606|-4.9606	6.1552|6.1552	0.20334|0.20334	0.285:0.0:0.715:0.0|0.285:0.0:0.715:0.0	.|.	2038;1860;1860;1428;1860|.	F1T0I1;O15027-5;O15027-4;A4QN19;O15027|.	.;.;.;.;SC16A_HUMAN|.	F|I	2038;432;760;1860;1860;1860;1428;396|167	ENSP00000325827:L2038F;ENSP00000277537:L432F;ENSP00000403525:L760F;ENSP00000360771:L1860F;ENSP00000290037:L1860F;ENSP00000387583:L1860F|.	ENSP00000277537:L432F|.	L|T	-|-	1|2	0|0	SEC16A|SEC16A	138467748|138467748	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	1.338000|1.338000	0.33873|0.33873	1.162000|1.162000	0.42619|0.42619	0.561000|0.561000	0.74099|0.74099	CTT|ACT	-	SEC16A	-	NULL		0.453	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	0	0		76	76		0.00		G	XM_088459		139347927	-1	37		101		tier1	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	26.43		SNP	0.001	A	37	101
BCORL1	63035	genome.wustl.edu	37	X	129148782	129148782	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:129148782C>T	ENST00000218147.7	+	4	2231	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	BCORL1_ENST00000359304.2_Silent_p.S678S|BCORL1_ENST00000540052.1_Silent_p.S678S|BCORL1_ENST00000303743.5_Silent_p.S678S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	678					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATGTCACCTCCTGCCTGGGCT	0.602													ENSG00000085185																																					0													71.0	59.0	63.0					X																	129148782		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2034C>T	X.37:g.129148782C>T			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S678	ENST00000218147.7	37	c.2034	CCDS14616.1	X																																																																																			-	BCORL1	-	NULL		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	0	0		28	28		0.00		C	NM_021946		129148782	+1	8		14		tier1	no_errors	ENST00000303743	ensembl	human	known	74_37	silent	36.36		SNP	0.965	T	8	14
DUOX2	50506	genome.wustl.edu	37	15	45386854	45386854	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45386854G>A	ENST00000603300.1	-	33	4633	c.4431C>T	c.(4429-4431)aaC>aaT	p.N1477N	DUOX2_ENST00000389039.6_Silent_p.N1477N	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1477					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)		ACAGACTCCGGTTCAGCACTT	0.632													ENSG00000140279																																					0													75.0	60.0	65.0					15																	45386854		2198	4298	6496	SO:0001819	synonymous_variant	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.4431C>T	15.37:g.45386854G>A			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_D-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.N1477	ENST00000603300.1	37	c.4431	CCDS10117.1	15																																																																																			-	DUOX2	-	pfam_Fe_red_D-bd_6		0.632	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		0	0		49	49		0.00		G	NM_014080		45386854	-1	35		30		tier1	no_errors	ENST00000389039	ensembl	human	known	74_37	silent	53.85		SNP	1.000	A	35	30
PRAMEF2	65122	genome.wustl.edu	37	1	12919636	12919636	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:12919636C>T	ENST00000240189.2	+	3	463	c.376C>T	c.(376-378)Cca>Tca	p.P126S		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	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)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCTGCTTCCCAGAGGCCAT	0.542													ENSG00000120952																																					0													162.0	183.0	176.0					1																	12919636		2202	4297	6499	SO:0001583	missense	0			-		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.376C>T	1.37:g.12919636C>T	ENSP00000240189:p.Pro126Ser			Missense_Mutation	SNP	NULL	p.P126S	ENST00000240189.2	37	c.376	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	3.081	-0.188995	0.06299	.	.	ENSG00000120952	ENST00000240189	T	0.03386	3.95	0.842	-1.68	0.08212	.	3.689560	0.00802	N	0.001430	T	0.03220	0.0094	L	0.33293	1	0.09310	N	1	B	0.18863	0.031	B	0.21708	0.036	T	0.40905	-0.9538	10	0.13470	T	0.59	.	2.3567	0.04297	0.0:0.3345:0.3556:0.31	.	126	O60811	PRAM2_HUMAN	S	126	ENSP00000240189:P126S	ENSP00000240189:P126S	P	+	1	0	PRAMEF2	12842223	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.297000	0.08276	-0.789000	0.04498	0.194000	0.17425	CCA	-	PRAMEF2	-	NULL		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	0	0		251	251		0.00		C	NM_023014		12919636	+1	105		205		tier1	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	33.87		SNP	0.000	T	105	205
SLC25A13	10165	genome.wustl.edu	37	7	95761192	95761192	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:95761192C>T	ENST00000265631.5	-	15	1590	c.1454G>A	c.(1453-1455)gGt>gAt	p.G485D	SLC25A13_ENST00000542654.1_Splice_Site_p.G377D|SLC25A13_ENST00000416240.2_Splice_Site_p.G486D			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	485					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGCTTTGGCACCCTGCACATT	0.458													ENSG00000004864																																					0													80.0	75.0	77.0					7																	95761192		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1453-1G>A	7.37:g.95761192C>T			O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.G486D	ENST00000265631.5	37	c.1457	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885872	0.91814	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.95821	-3.82;-3.82;-3.82	4.65	4.65	0.58169	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.99045	0.9673	H	0.99929	4.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.98614	1.0664	10	0.87932	D	0	-13.9799	18.1095	0.89530	0.0:1.0:0.0:0.0	.	377;486;485	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	485;486;377	ENSP00000265631:G485D;ENSP00000400101:G486D;ENSP00000440484:G377D	ENSP00000265631:G485D	G	-	2	0	SLC25A13	95599128	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.651000	0.83577	2.599000	0.87857	0.655000	0.94253	GGT	-	SLC25A13	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.458	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	0	0		35	35		0.00		C	NM_014251	Missense_Mutation	95761192	-1	12		12		tier1	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	50.00		SNP	1.000	T	12	12
MYO3B	140469	genome.wustl.edu	37	2	171319908	171319908	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:171319908G>T	ENST00000408978.4	+	24	2904	c.2761G>T	c.(2761-2763)Gaa>Taa	p.E921*	MYO3B_ENST00000409044.3_Nonsense_Mutation_p.E921*|MYO3B_ENST00000334231.6_Nonsense_Mutation_p.E930*|MYO3B_ENST00000602629.1_Intron	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	921	Myosin motor.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACGGCATCCGGAAGAAACCAC	0.483													ENSG00000071909																																					0													106.0	108.0	108.0					2																	171319908		1952	4127	6079	SO:0001587	stop_gained	0			-		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2761G>T	2.37:g.171319908G>T	ENSP00000386213:p.Glu921*		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Nonsense_Mutation	SNP	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.E930*	ENST00000408978.4	37	c.2788	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.749676	0.98939	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.	.	.	5.19	5.19	0.71726	.	0.156487	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.7156	0.91673	0.0:0.0:1.0:0.0	.	.	.	.	X	921;921;920;930;930	.	ENSP00000314213:E920X	E	+	1	0	MYO3B	171028154	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	5.583000	0.67484	2.438000	0.82558	0.561000	0.74099	GAA	-	MYO3B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.483	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	0	0		98	98		0.00		G			171319908	+1	26		59		tier1	no_errors	ENST00000334231	ensembl	human	known	74_37	nonsense	30.59		SNP	1.000	T	26	59
MAS1L	116511	genome.wustl.edu	37	6	29455294	29455294	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:29455294C>T	ENST00000377127.3	-	1	444	c.386G>A	c.(385-387)gGg>gAg	p.G129E		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	129					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGTAAGAACCCCACTGCCGA	0.502													ENSG00000204687																									NSCLC(153;755 1987 3859 11251 32945)												0													65.0	61.0	63.0					6																	29455294		2203	4300	6503	SO:0001583	missense	0			-	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.386G>A	6.37:g.29455294C>T	ENSP00000366331:p.Gly129Glu		Q5SUN5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G129E	ENST00000377127.3	37	c.386	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	C	6.562	0.472062	0.12461	.	.	ENSG00000204687	ENST00000377127	T	0.71579	-0.58	1.15	-2.31	0.06765	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39172	0.1068	N	0.14661	0.345	0.09310	N	1	P	0.34837	0.472	P	0.53266	0.722	T	0.54589	-0.8271	9	0.30854	T	0.27	.	0.3307	0.00318	0.2098:0.1682:0.2121:0.4098	.	129	P35410	MAS1L_HUMAN	E	129	ENSP00000366331:G129E	ENSP00000366331:G129E	G	-	2	0	MAS1L	29563273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.619000	0.02048	-1.447000	0.01943	-1.358000	0.01219	GGG	-	MAS1L	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	0	0		37	37		0.00		C	NM_052967		29455294	-1	14		54		tier1	no_errors	ENST00000377127	ensembl	human	known	74_37	missense	20.29		SNP	0.000	T	14	54
SV2C	22987	genome.wustl.edu	37	5	75505622	75505622	+	Missense_Mutation	SNP	C	C	T	rs139844012		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:75505622C>T	ENST00000502798.2	+	4	1265	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SV2C_ENST00000322285.7_Missense_Mutation_p.R275W	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	275					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCGGGAAAAGCGGGGCGAACA	0.557													ENSG00000122012	C|||	1	0.000199681	0.0	0.0	5008	,	,		16890	0.0		0.001	False		,,,				2504	0.0																0													95.0	99.0	98.0					5																	75505622		2192	4298	6490	SO:0001583	missense	0			GMAF=0.0005	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.823C>T	5.37:g.75505622C>T	ENSP00000423541:p.Arg275Trp		Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.R275W	ENST00000502798.2	37	c.823	CCDS43331.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.4	4.139314	0.77775	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	D;D	0.82619	-1.63;-1.63	5.14	4.26	0.50523	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95713	0.8759	10	0.87932	D	0	-20.6229	14.4578	0.67428	0.1484:0.8515:0.0:0.0	.	275	Q496J9	SV2C_HUMAN	W	275	ENSP00000423541:R275W;ENSP00000316983:R275W	ENSP00000316983:R275W	R	+	1	2	SV2C	75541378	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.447000	0.35101	1.119000	0.41883	0.591000	0.81541	CGG	rs139844012	SV2C	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2		0.557	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	0	0		35	35		0.00		C			75505622	+1	19		82		tier1	no_errors	ENST00000502798	ensembl	human	known	74_37	missense	18.81		SNP	1.000	T	19	82
TCEB3B	51224	genome.wustl.edu	37	18	44559473	44559473	+	Silent	SNP	C	C	T	rs192545475		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:44559473C>T	ENST00000332567.4	-	1	2515	c.2163G>A	c.(2161-2163)gcG>gcA	p.A721A	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	721					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGCGGGCGCCGCGTGCTCAT	0.617													ENSG00000206181	C|||	1	0.000199681	0.0	0.0	5008	,	,		15371	0.0		0.001	False		,,,				2504	0.0																0								C	,	0,4404		0,0,2202	45.0	52.0	49.0		2163,	-0.2	0.0	18		49	7,8591		0,7,4292	no	coding-synonymous,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	,	0,7,6494	TT,TC,CC		0.0814,0.0,0.0538	,	721/754,	44559473	7,12995	2202	4299	6501	SO:0001819	synonymous_variant	0			GMAF=0.0005	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2163G>A	18.37:g.44559473C>T			Q9P2V9	Silent	SNP	pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.A721	ENST00000332567.4	37	c.2163	CCDS11932.1	18																																																																																			rs192545475	TCEB3B	-	NULL		0.617	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	0	0		45	45		0.00		C	NM_016427		44559473	-1	13		42		tier1	no_errors	ENST00000332567	ensembl	human	known	74_37	silent	23.64		SNP	0.000	T	13	42
ELMO2	63916	genome.wustl.edu	37	20	45002010	45002010	+	Intron	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:45002010G>C	ENST00000290246.6	-	16	1611				ELMO2_ENST00000454865.2_Intron|ELMO2_ENST00000439931.2_Intron|ELMO2_ENST00000445496.2_Intron|ELMO2_ENST00000396391.1_Intron|ELMO2_ENST00000372176.1_Intron|ELMO2_ENST00000352077.2_Intron|ELMO2_ENST00000488853.1_5'Flank	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTCCCGTGGGCCTCAGAGC	0.552													ENSG00000062598																																					0													103.0	78.0	87.0					20																	45002010		2203	4300	6503	SO:0001627	intron_variant	0			-	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1416+27C>G	20.37:g.45002010G>C			E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	R	SNP	-	NULL	ENST00000290246.6	37	NULL	CCDS13398.1	20																																																																																			-	ELMO2	-	-		0.552	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	0	0		50	50		0.00		G	NM_022086		45002010	-1	23		41		tier1	no_errors	ENST00000462491	ensembl	human	known	74_37	rna	35.94		SNP	0.002	C	23	41
ZNF512B	57473	genome.wustl.edu	37	20	62591377	62591377	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:62591377G>A	ENST00000450537.1	-	17	2603	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P848L|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P848L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	848					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)					CCGCTCCTTGGGCTTTCGGCC	0.642													ENSG00000196700																																					0													71.0	78.0	75.0					20																	62591377		2203	4300	6503	SO:0001583	missense	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.2543C>T	20.37:g.62591377G>A	ENSP00000393795:p.Pro848Leu		Q08AK9|Q9ULM4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P848L	ENST00000450537.1	37	c.2543	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058228	0.55325	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.26957	1.7;1.7;1.7	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	L	0.32530	0.975	0.58432	D	0.999998	P	0.37015	0.578	B	0.33799	0.17	T	0.07233	-1.0783	10	0.66056	D	0.02	-19.248	15.538	0.76018	0.0:0.0:1.0:0.0	.	848	Q96KM6	Z512B_HUMAN	L	848	ENSP00000358904:P848L;ENSP00000393795:P848L;ENSP00000217130:P848L	ENSP00000217130:P848L	P	-	2	0	ZNF512B	62061821	1.000000	0.71417	0.993000	0.49108	0.150000	0.21749	7.495000	0.81514	2.071000	0.62044	0.313000	0.20887	CCC	-	ZNF512B	-	NULL		0.642	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	0	0		55	55		0.00		G	NM_020713		62591377	-1	22		53		tier1	no_errors	ENST00000217130	ensembl	human	known	74_37	missense	29.33		SNP	1.000	A	22	53
CACNA1E	777	genome.wustl.edu	37	1	181767913	181767913	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:181767913G>A	ENST00000367573.2	+	48	6885	c.6885G>A	c.(6883-6885)atG>atA	p.M2295I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.M2252I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.M2233I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M2276I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.M1859I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M2184I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M2246I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2295					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCCAGGCATGATGTGTGGGG	0.622													ENSG00000198216																																					0													20.0	23.0	22.0					1																	181767913		2019	4159	6178	SO:0001583	missense	0			-	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6885G>A	1.37:g.181767913G>A	ENSP00000356545:p.Met2295Ile		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.M2295I	ENST00000367573.2	37	c.6885	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323594	0.24080	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95885	-3.78;-3.78;-3.77;-3.78;-3.84;-3.77;-3.77	5.59	3.71	0.42584	.	0.618043	0.18641	N	0.135286	D	0.87807	0.6270	N	0.14661	0.345	0.20975	N	0.999815	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.75875	-0.3163	10	0.25751	T	0.34	.	5.8628	0.18759	0.0729:0.1382:0.6451:0.1438	.	2233;2252	Q15878-2;Q15878-3	.;.	I	2252;2233;2246;2184;1859;2276;2295	ENSP00000356542:M2252I;ENSP00000434814:M2233I;ENSP00000350183:M2246I;ENSP00000351101:M2184I;ENSP00000356539:M1859I;ENSP00000353222:M2276I;ENSP00000356545:M2295I	ENSP00000350183:M2246I	M	+	3	0	CACNA1E	180034536	0.233000	0.23772	0.995000	0.50966	0.996000	0.88848	0.307000	0.19296	0.702000	0.31825	0.563000	0.77884	ATG	-	CAC1E	-	NULL		0.622	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CAC1E	HGNC	protein_coding	OTTHUMT00000090793.2	0	0		37	37		0.00		G	NM_000721		181767913	+1	8		39		tier1	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	17.02		SNP	0.971	A	8	39
OR52N2	390077	genome.wustl.edu	37	11	5842312	5842312	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5842312C>T	ENST00000317037.2	+	1	769	c.747C>T	c.(745-747)tcC>tcT	p.S249S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	249			S -> A (in dbSNP:rs8181529).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGTGTTCCATTGTGATCA	0.428													ENSG00000180988																																					0													231.0	181.0	198.0					11																	5842312		2201	4296	6497	SO:0001819	synonymous_variant	0			-	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.747C>T	11.37:g.5842312C>T			Q6IFF9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S249	ENST00000317037.2	37	c.747	CCDS31399.1	11																																																																																			-	OR52N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N2	HGNC	protein_coding	OTTHUMT00000401143.1	0	0		56	56		0.00		C	NM_001005174		5842312	+1	20		36		tier1	no_errors	ENST00000317037	ensembl	human	known	74_37	silent	35.71		SNP	0.001	T	20	36
TECPR2	9895	genome.wustl.edu	37	14	102900844	102900844	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:102900844G>A	ENST00000359520.7	+	9	1916	c.1690G>A	c.(1690-1692)Gat>Aat	p.D564N	TECPR2_ENST00000558678.1_Missense_Mutation_p.D564N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	564					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGCTGAGGAAGATGACATTAG	0.517													ENSG00000196663																																					0													85.0	79.0	81.0					14																	102900844		2203	4300	6503	SO:0001583	missense	0			-	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1690G>A	14.37:g.102900844G>A	ENSP00000352510:p.Asp564Asn		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.D564N	ENST00000359520.7	37	c.1690	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	3.840	-0.033944	0.07543	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.13778	2.56	5.1	-10.2	0.00374	.	3.044510	0.00879	N	0.002104	T	0.02230	0.0069	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29912	-0.9996	10	0.02654	T	1	.	0.9692	0.01412	0.32:0.195:0.2949:0.1902	.	564;564	A5PKY3;O15040	.;TCPR2_HUMAN	N	564	ENSP00000352510:D564N	ENSP00000352510:D564N	D	+	1	0	TECPR2	101970597	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.223000	0.09177	-3.164000	0.00227	-0.266000	0.10368	GAT	-	TECPR2	-	NULL		0.517	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	0	0		43	43		0.00		G	NM_014844		102900844	+1	15		9		tier1	no_errors	ENST00000359520	ensembl	human	known	74_37	missense	62.50		SNP	0.000	A	15	9
CSMD3	114788	genome.wustl.edu	37	8	113694682	113694682	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113694682G>A	ENST00000297405.5	-	16	2910	c.2666C>T	c.(2665-2667)cCa>cTa	p.P889L	CSMD3_ENST00000343508.3_Missense_Mutation_p.P849L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P785L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P889L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	889	Sushi 4. {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						TCCACATTTTGGAATCAGTCC	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			ENSG00000164796																																					0													135.0	131.0	132.0					8																	113694682		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.2666C>T	8.37:g.113694682G>A	ENSP00000297405:p.Pro889Leu		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.P889L	ENST00000297405.5	37	c.2666	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492365	0.84962	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.42	5.42	0.78866	Complement control module (2);Sushi/SCR/CCP (3);	0.074895	0.53938	D	0.000043	D	0.91050	0.7184	M	0.92691	3.335	0.58432	D	0.999998	D;D;B	0.89917	1.0;1.0;0.289	D;D;B	0.97110	1.0;1.0;0.209	D	0.91577	0.5276	10	0.44086	T	0.13	.	19.2183	0.93786	0.0:0.0:1.0:0.0	.	785;889;849	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	849;889;229;785;889	ENSP00000345799:P849L;ENSP00000297405:P889L;ENSP00000341558:P229L;ENSP00000412263:P785L;ENSP00000343124:P889L	ENSP00000297405:P889L	P	-	2	0	CSMD3	113763858	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.546000	0.85860	0.650000	0.86243	CCA	-	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	0	0		83	83		0.00		G	NM_052900		113694682	-1	17		64		tier1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	20.99		SNP	1.000	A	17	64
HIVEP3	59269	genome.wustl.edu	37	1	42048123	42048123	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:42048123G>A	ENST00000372583.1	-	4	3231	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	HIVEP3_ENST00000429157.2_Silent_p.S782S|HIVEP3_ENST00000372584.1_Silent_p.S782S|HIVEP3_ENST00000247584.5_Silent_p.S782S|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	782	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATTCTGAACCGGACCCTGGCT	0.542													ENSG00000127124																																					0													44.0	48.0	46.0					1																	42048123		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2346C>T	1.37:g.42048123G>A			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S782	ENST00000372583.1	37	c.2346	CCDS463.1	1																																																																																			-	HIVEP3	-	NULL		0.542	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	0	0		41	41		0.00		G	NM_024503		42048123	-1	12		68		tier1	no_errors	ENST00000247584	ensembl	human	known	74_37	silent	15.00		SNP	0.000	A	12	68
KALRN	8997	genome.wustl.edu	37	3	124351509	124351509	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:124351509C>T	ENST00000291478.5	+	2	491	c.328C>T	c.(328-330)Cct>Tct	p.P110S	KALRN_ENST00000428018.2_Missense_Mutation_p.P110S|KALRN_ENST00000393496.1_Missense_Mutation_p.P180S|KALRN_ENST00000360013.3_Missense_Mutation_p.P1807S	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1807	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCTCCCAAGCCTGGGGATGA	0.552													ENSG00000160145																																					0													91.0	95.0	94.0					3																	124351509		2203	4300	6503	SO:0001583	missense	0			-	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.328C>T	3.37:g.124351509C>T	ENSP00000291478:p.Pro110Ser		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P1807S	ENST00000291478.5	37	c.5419	CCDS3028.1	3	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009876	0.35415	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018	T;T;T;T	0.60040	0.25;0.71;0.29;0.22	5.01	4.07	0.47477	.	0.246051	0.34046	N	0.004305	T	0.31827	0.0809	N	0.04508	-0.205	0.28843	N	0.896503	B;B;B	0.16396	0.001;0.017;0.001	B;B;B	0.12837	0.003;0.008;0.002	T	0.12863	-1.0531	10	0.31617	T	0.26	.	9.7819	0.40653	0.1912:0.6897:0.119:0.0	.	110;180;1807	C9JQ37;O60229-5;O60229	.;.;KALRN_HUMAN	S	1807;180;110;110;110	ENSP00000353109:P1807S;ENSP00000377134:P180S;ENSP00000291478:P110S;ENSP00000402419:P110S	ENSP00000291478:P110S	P	+	1	0	KALRN	125834199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.525000	0.35953	2.613000	0.88420	0.511000	0.50034	CCT	-	KALRN	-	NULL		0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	0	0		43	43		0.00		C	NM_003947		124351509	+1	10		66		tier1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	13.16		SNP	1.000	T	10	66
ZNF644	84146	genome.wustl.edu	37	1	91406145	91406145	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:91406145C>A	ENST00000370440.1	-	3	983	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D256Y			Q9H582	ZN644_HUMAN	zinc finger protein 644	256					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAGTTTGTATCATTTTCTGAC	0.373													ENSG00000122482																																					0													130.0	130.0	130.0					1																	91406145		2202	4300	6502	SO:0001583	missense	0			-	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.766G>T	1.37:g.91406145C>A	ENSP00000359469:p.Asp256Tyr		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D256Y	ENST00000370440.1	37	c.766	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118122	0.37339	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00637	6.05;6.05	6.03	5.11	0.69529	.	0.258864	0.44097	D	0.000499	T	0.00412	0.0013	N	0.24115	0.695	0.42653	D	0.993454	P	0.36789	0.57	B	0.40101	0.319	T	0.76801	-0.2825	10	0.87932	D	0	-9.3077	15.6024	0.76634	0.0:0.9337:0.0:0.0663	.	256	Q9H582	ZN644_HUMAN	Y	256	ENSP00000359469:D256Y;ENSP00000337008:D256Y	ENSP00000337008:D256Y	D	-	1	0	ZNF644	91178733	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.485000	0.66850	1.534000	0.49203	0.655000	0.94253	GAT	-	ZNF644	-	NULL		0.373	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	0	0		46	46		0.00		C	NM_032186		91406145	-1	13		37		tier1	no_errors	ENST00000337393	ensembl	human	known	74_37	missense	26.00		SNP	1.000	A	13	37
CHRM2	1129	genome.wustl.edu	37	7	136699927	136699927	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:136699927G>A	ENST00000445907.2	+	3	843	c.315G>A	c.(313-315)gtG>gtA	p.V105V	CHRM2_ENST00000453373.1_Silent_p.V105V|CHRM2_ENST00000397608.3_Silent_p.V105V|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Silent_p.V105V|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Silent_p.V105V|CHRM2_ENST00000320658.5_Silent_p.V105V	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	105	Agonist binding. {ECO:0000305}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGGACTATGTGGTCAGCAATG	0.478													ENSG00000181072																																					0													172.0	162.0	165.0					7																	136699927		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.315G>A	7.37:g.136699927G>A			Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.V105	ENST00000445907.2	37	c.315	CCDS5843.1	7																																																																																			-	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	0	0		30	30		0.00		G			136699927	+1	13		38		tier1	no_errors	ENST00000320658	ensembl	human	known	74_37	silent	25.49		SNP	0.957	A	13	38
COL5A3	50509	genome.wustl.edu	37	19	10103504	10103504	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10103504G>A	ENST00000264828.3	-	21	1932	c.1847C>T	c.(1846-1848)cCg>cTg	p.P616L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	616	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACACTCACCGGGCGACCCGT	0.592													ENSG00000080573																																					0													54.0	56.0	55.0					19																	10103504		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1848+1C>T	19.37:g.10103504G>A			Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P616L	ENST00000264828.3	37	c.1847	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369221	0.42003	.	.	ENSG00000080573	ENST00000264828	D	0.96685	-4.09	4.08	3.05	0.35203	.	0.161581	0.41396	D	0.000896	D	0.92430	0.7597	M	0.62088	1.915	0.52501	D	0.999951	P	0.47106	0.89	B	0.30716	0.119	D	0.90839	0.4722	10	0.72032	D	0.01	.	9.4934	0.38974	0.1056:0.0:0.8944:0.0	.	616	P25940	CO5A3_HUMAN	L	616	ENSP00000264828:P616L	ENSP00000264828:P616L	P	-	2	0	COL5A3	9964504	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.541000	0.36126	1.077000	0.40990	0.561000	0.74099	CCG	-	COL5A3	-	NULL		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	0	0		20	20		0.00		G	NM_015719	Missense_Mutation	10103504	-1	22		34		tier1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	39.29		SNP	1.000	A	22	34
PCLO	27445	genome.wustl.edu	37	7	82584369	82584369	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82584369C>T	ENST00000333891.9	-	5	6237	c.5900G>A	c.(5899-5901)gGa>gAa	p.G1967E	PCLO_ENST00000423517.2_Missense_Mutation_p.G1967E	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						ATCTACCGATCCATTGTACGT	0.368													ENSG00000186472																																					0													105.0	105.0	105.0					7																	82584369		1864	4097	5961	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.5900G>A	7.37:g.82584369C>T	ENSP00000334319:p.Gly1967Glu			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.G1967E	ENST00000333891.9	37	c.5900	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	1.457	-0.563400	0.03939	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15603	2.41;2.41	5.57	4.6	0.57074	.	.	.	.	.	T	0.16514	0.0397	L	0.51422	1.61	0.80722	D	1	B;B	0.31548	0.091;0.328	B;B	0.28011	0.039;0.085	T	0.02736	-1.1117	9	0.87932	D	0	.	10.6136	0.45436	0.1427:0.7836:0.0:0.0737	.	1967;1967	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1898;1967;1967	ENSP00000334319:G1967E;ENSP00000388393:G1967E	ENSP00000334319:G1967E	G	-	2	0	PCLO	82422305	0.016000	0.18221	1.000000	0.80357	0.163000	0.22366	0.978000	0.29488	2.619000	0.88677	0.655000	0.94253	GGA	-	PCLO	-	NULL		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		37	37		0.00		C	NM_014510		82584369	-1	9		28		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	24.32		SNP	0.904	T	9	28
PZP	5858	genome.wustl.edu	37	12	9305772	9305772	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:9305772G>A	ENST00000261336.2	-	30	3970	c.3942C>T	c.(3940-3942)ctC>ctT	p.L1314L	PZP_ENST00000381997.2_Silent_p.L1100L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1314					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATTCTCCAGGGAGCTCTGGCA	0.438													ENSG00000126838																									Melanoma(125;1402 1695 4685 34487 38571)												0													158.0	160.0	160.0					12																	9305772		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3942C>T	12.37:g.9305772G>A			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L1314	ENST00000261336.2	37	c.3942	CCDS8600.1	12																																																																																			-	PZP	-	NULL		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	0	0		79	79		0.00		G	NM_002864		9305772	-1	13		68		tier1	no_errors	ENST00000261336	ensembl	human	known	74_37	silent	16.05		SNP	0.008	A	13	68
PRR14L	253143	genome.wustl.edu	37	22	32109158	32109158	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32109158G>A	ENST00000327423.6	-	4	4856	c.4667C>T	c.(4666-4668)cCc>cTc	p.P1556L	PRR14L_ENST00000397493.2_Missense_Mutation_p.P1556L|PRR14L_ENST00000434485.1_Missense_Mutation_p.P1556L	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1556										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TGTGGGGATGGGATTGGAAGA	0.418											OREG0003533	type=REGULATORY REGION|Gene=BC040859|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ENSG00000183530																																					0													65.0	60.0	61.0					22																	32109158		692	1591	2283	SO:0001583	missense	0			-	BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.4667C>T	22.37:g.32109158G>A	ENSP00000331845:p.Pro1556Leu	829	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.P1556L	ENST00000327423.6	37	c.4667	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	1.929	-0.446549	0.04572	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06933	3.24;3.26;3.24	5.38	4.37	0.52481	.	0.777028	0.11375	N	0.570434	T	0.06142	0.0159	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.40194	-0.9576	9	.	.	.	0.3037	7.768	0.28991	0.1953:0.0:0.8047:0.0	.	1556;1556;1556	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	L	1556	ENSP00000380630:P1556L;ENSP00000331845:P1556L;ENSP00000388314:P1556L	.	P	-	2	0	PRR14L	30439158	0.067000	0.21026	0.267000	0.24556	0.003000	0.03518	2.629000	0.46485	1.270000	0.44297	0.655000	0.94253	CCC	-	PRR14L	-	NULL		0.418	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	0	0		49	49		0.00		G	NM_173566		32109158	-1	9		61		tier1	no_errors	ENST00000397493	ensembl	human	known	74_37	missense	12.68		SNP	0.009	A	9	61
GUCA1C	9626	genome.wustl.edu	37	3	108672518	108672518	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:108672518G>A	ENST00000261047.3	-	1	224	c.92C>T	c.(91-93)cCa>cTa	p.P31L	GUCA1C_ENST00000393963.3_Missense_Mutation_p.P31L|GUCA1C_ENST00000471108.1_Missense_Mutation_p.P31L	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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						CAGGCCGGATGGATATTCCAT	0.398													ENSG00000138472																									NSCLC(157;1360 1999 30631 40189 44208)												0													173.0	174.0	174.0					3																	108672518		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.92C>T	3.37:g.108672518G>A	ENSP00000261047:p.Pro31Leu		O95844|Q9UNM0	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.P31L	ENST00000261047.3	37	c.92	CCDS2954.1	3	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606244	0.66445	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.68181	-0.31;-0.31;-0.31	5.75	2.97	0.34412	EF-hand-like domain (1);	0.105384	0.64402	N	0.000002	T	0.82125	0.4969	M	0.89353	3.025	0.58432	D	0.999999	D;P	0.89917	1.0;0.929	D;B	0.97110	1.0;0.307	T	0.82378	-0.0487	10	0.87932	D	0	.	9.877	0.41209	0.209:0.0:0.791:0.0	.	31;31	C9JNI2;O95843	.;GUC1C_HUMAN	L	31	ENSP00000377535:P31L;ENSP00000261047:P31L;ENSP00000417761:P31L	ENSP00000261047:P31L	P	-	2	0	GUCA1C	110155208	1.000000	0.71417	0.019000	0.16419	0.749000	0.42624	5.502000	0.66956	0.437000	0.26423	0.650000	0.86243	CCA	-	GUCA1C	-	prints_Recoverin		0.398	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1C	HGNC	protein_coding	OTTHUMT00000353819.1	0	0		58	58		0.00		G	NM_005459		108672518	-1	23		60		tier1	no_errors	ENST00000261047	ensembl	human	known	74_37	missense	27.71		SNP	0.951	A	23	60
DTX2	113878	genome.wustl.edu	37	7	76109854	76109854	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:76109854G>A	ENST00000324432.5	+	4	538	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Missense_Mutation_p.V10M|DTX2_ENST00000413936.2_Missense_Mutation_p.V10M|DTX2_ENST00000446820.2_Missense_Mutation_p.V10M|DTX2_ENST00000446600.1_Intron|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000307569.8_Missense_Mutation_p.V10M	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	10	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCCTTCCCTGGTGCAGGTGTA	0.657													ENSG00000091073																																					0													23.0	23.0	23.0					7																	76109854		2202	4296	6498	SO:0001583	missense	0			-		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.28G>A	7.37:g.76109854G>A	ENSP00000322885:p.Val10Met		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.V10M	ENST00000324432.5	37	c.28	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	9.560	1.118336	0.20877	.	.	ENSG00000091073	ENST00000425780;ENST00000456590;ENST00000451769;ENST00000324432;ENST00000307569;ENST00000457529;ENST00000413936;ENST00000423646;ENST00000438930;ENST00000430490;ENST00000442516;ENST00000423250;ENST00000429179;ENST00000435861;ENST00000446820	T;T;T;T;T;T;T	0.45668	2.69;2.68;2.69;0.89;2.69;0.91;2.68	5.35	2.21	0.28008	WWE domain (1);	0.399046	0.27549	N	0.018876	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B;P	0.34837	0.415;0.472	B;B	0.34301	0.179;0.166	T	0.13548	-1.0505	10	0.36615	T	0.2	-4.8237	14.0673	0.64839	0.0:0.454:0.546:0.0	.	10;10	Q86UW9-2;Q86UW9	.;DTX2_HUMAN	M	10	ENSP00000322885:V10M;ENSP00000305242:V10M;ENSP00000390218:V10M;ENSP00000415838:V10M;ENSP00000411986:V10M;ENSP00000403342:V10M;ENSP00000392545:V10M	ENSP00000305242:V10M	V	+	1	0	AC005522.1	75947790	0.443000	0.25641	0.992000	0.48379	0.756000	0.42949	0.537000	0.23144	0.686000	0.31488	0.563000	0.77884	GTG	-	DTX2	-	pfscan_WWE-dom		0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	0	0		68	68		0.00		G			76109854	+1	33		65		tier1	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	33.67		SNP	0.106	A	33	65
TEAD4	7004	genome.wustl.edu	37	12	3147172	3147172	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:3147172C>T	ENST00000397122.2	+	9	834	c.549C>T	c.(547-549)tcC>tcT	p.S183S	TEAD4_ENST00000358409.2_Silent_p.S269S|TEAD4_ENST00000359864.2_Silent_p.S312S	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	312					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AAGGCAGCTCCTTCTATGGGG	0.572													ENSG00000197905																																					0													88.0	69.0	75.0					12																	3147172		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.549C>T	12.37:g.3147172C>T			H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Silent	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.S312	ENST00000397122.2	37	c.936	CCDS41737.1	12																																																																																			-	TEAD4	-	pfam_TEA/ATTS,pirsf_TEF		0.572	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398477.1	0	0		42	42		0.00		C	NM_003213		3147172	+1	23		31		tier1	no_errors	ENST00000359864	ensembl	human	known	74_37	silent	42.59		SNP	0.996	T	23	31
DOPEY1	23033	genome.wustl.edu	37	6	83832631	83832633	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:83832631_83832633delCTT	ENST00000349129.2	+	12	1530_1532	c.1270_1272delCTT	c.(1270-1272)cttdel	p.L425del	DOPEY1_ENST00000369739.3_In_Frame_Del_p.L416del|DOPEY1_ENST00000237163.5_In_Frame_Del_p.L416del	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	425					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACTGCTAACCTTCTCTTTAATT	0.281													ENSG00000083097																																					0									,	222,4034		110,2,2016					,	1.6	1.0			105	563,7675		277,9,3833	no	coding,coding	DOPEY1	NM_015018.3,NM_001199942.1	,	387,11,5849	A1A1,A1R,RR		6.8342,5.2162,6.283	,	,		785,11709				SO:0001651	inframe_deletion	0				AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1270_1272delCTT	6.37:g.83832631_83832633delCTT	ENSP00000195654:p.Leu425del		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	In_Frame_Del	DEL	pfam_Dopey_N,superfamily_ARM-type_fold	p.L425in_frame_del	ENST00000349129.2	37	c.1270_1272	CCDS4996.1	6																																																																																				DOPEY1	-	superfamily_ARM-type_fold		0.281	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	0	0		135	135		0.00		CTT	NM_015018		83832633	+1	47		56		tier1	no_errors	ENST00000349129	ensembl	human	known	74_37	in_frame_del	45.63		DEL	1.000:1.000:1.000	-	47	56
MUC17	140453	genome.wustl.edu	37	7	100677806	100677806	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100677806C>T	ENST00000306151.4	+	3	3173	c.3109C>T	c.(3109-3111)Cct>Tct	p.P1037S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1037	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCTCAACTCCTAGTGAAGG	0.502													ENSG00000169876																																					0													514.0	403.0	441.0					7																	100677806		2203	4298	6501	SO:0001583	missense	0			-	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3109C>T	7.37:g.100677806C>T	ENSP00000302716:p.Pro1037Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.P1037S	ENST00000306151.4	37	c.3109	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	T	1.759	-0.487249	0.04352	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.74	-0.273	0.12915	.	.	.	.	.	T	0.02230	0.0069	L	0.27053	0.805	0.09310	N	1	B	0.20671	0.047	B	0.11329	0.006	T	0.49293	-0.8955	9	0.10902	T	0.67	.	3.7433	0.08539	0.0:0.4439:0.0:0.5561	.	1037	Q685J3	MUC17_HUMAN	S	1037	ENSP00000302716:P1037S	ENSP00000302716:P1037S	P	+	1	0	MUC17	100464526	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-2.579000	0.00907	-0.100000	0.12241	0.134000	0.15878	CCT	-	MUC17	-	NULL		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	0	0		86	86		0.00		C	NM_001040105		100677806	+1	38		86		tier1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	30.65		SNP	0.060	T	38	86
MAPK7	5598	genome.wustl.edu	37	17	19286474	19286474	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:19286474C>T	ENST00000308406.5	+	7	2767	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	MAPK7_ENST00000395604.3_Missense_Mutation_p.S794F|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Missense_Mutation_p.S794F|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.S655F	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	794	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GATATTGAGTCCCTGCAGCGT	0.617													ENSG00000166484																																					0													81.0	73.0	76.0					17																	19286474		2203	4300	6503	SO:0001583	missense	0			-	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2381C>T	17.37:g.19286474C>T	ENSP00000311005:p.Ser794Phe		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	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.S794F	ENST00000308406.5	37	c.2381	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669490	0.88348	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.77098	-0.82;-1.07;-0.82;-0.82	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	L	0.53249	1.67	0.51482	D	0.999922	D	0.71674	0.998	D	0.80764	0.994	D	0.86873	0.2037	10	0.87932	D	0	-22.3523	15.6104	0.76713	0.0:1.0:0.0:0.0	.	794	Q13164	MK07_HUMAN	F	794;655;794;794	ENSP00000311005:S794F;ENSP00000299612:S655F;ENSP00000378968:S794F;ENSP00000378966:S794F	ENSP00000299612:S655F	S	+	2	0	MAPK7	19227067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.189000	0.65098	2.269000	0.75478	0.491000	0.48974	TCC	-	MAPK7	-	NULL		0.617	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	0	0		33	33		0.00		C	NM_139033		19286474	+1	32		41		tier1	no_errors	ENST00000308406	ensembl	human	known	74_37	missense	43.24		SNP	1.000	T	32	41
KDELC1	79070	genome.wustl.edu	37	13	103441370	103441370	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:103441370C>T	ENST00000376004.4	-	7	1621	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	429						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCTCTTCATCGTGATCTTTC	0.423													ENSG00000134901																																					0													207.0	212.0	211.0					13																	103441370		2203	4300	6503	SO:0001583	missense	0			-	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1285G>A	13.37:g.103441370C>T	ENSP00000365172:p.Asp429Asn		Q53HL3|Q9BVD2	Missense_Mutation	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.D429N	ENST00000376004.4	37	c.1285	CCDS9504.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.511562	0.96402	.	.	ENSG00000134901	ENST00000376004	T	0.23950	1.88	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64659	-0.6355	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	429	Q6UW63	KDEL1_HUMAN	N	429	ENSP00000365172:D429N	ENSP00000365172:D429N	D	-	1	0	KDELC1	102239371	1.000000	0.71417	0.904000	0.35570	0.975000	0.68041	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	GAT	-	KDELC1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying		0.423	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1	0	0		63	63		0.00		C			103441370	-1	11		47		tier1	no_errors	ENST00000376004	ensembl	human	known	74_37	missense	18.97		SNP	1.000	T	11	47
AQP8	343	genome.wustl.edu	37	16	25232850	25232850	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:25232850C>T	ENST00000219660.5	+	3	458	c.333C>T	c.(331-333)ctC>ctT	p.L111L	AQP8_ENST00000566125.1_Silent_p.L105L	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	111					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TGATGCTCCTCCCGTACTGGG	0.622													ENSG00000103375																																					0													100.0	88.0	92.0					16																	25232850		2197	4300	6497	SO:0001819	synonymous_variant	0			-	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.333C>T	16.37:g.25232850C>T			Q8IUU3|Q9UIA4	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP	p.L111	ENST00000219660.5	37	c.333	CCDS10626.1	16																																																																																			-	AQP8	-	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP		0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP8	HGNC	protein_coding	OTTHUMT00000214102.2	0	0		46	46		0.00		C	NM_001169		25232850	+1	24		40		tier1	no_errors	ENST00000219660	ensembl	human	known	74_37	silent	37.50		SNP	0.216	T	24	40
MALAT1	378938	genome.wustl.edu	37	11	65268243	65268243	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65268243C>T	ENST00000534336.1	+	0	3011				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGGTAAAAATCCGTGAGGTCG	0.473													ENSG00000251562																																					0													75.0	72.0	73.0					11																	65268243		874	1988	2862			0			-	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268243C>T				R	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			-	MALAT1	-	-		0.473	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	0	0		104	104		0.00		C	NR_002819		65268243	+1	45		83		tier1	no_errors	ENST00000534336	ensembl	human	known	74_37	rna	35.16		SNP	0.017	T	45	83
UGDH	7358	genome.wustl.edu	37	4	39515779	39515779	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:39515779G>A	ENST00000316423.6	-	3	530	c.188C>T	c.(187-189)tCc>tTc	p.S63F	UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Missense_Mutation_p.S63F|UGDH_ENST00000501493.2_Missense_Mutation_p.S63F|UGDH_ENST00000507089.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	63					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TCCTCGACAGGATTCTACCAC	0.313													ENSG00000109814																																					0													53.0	65.0	61.0					4																	39515779		2197	4288	6485	SO:0001583	missense	0			-	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.188C>T	4.37:g.39515779G>A	ENSP00000319501:p.Ser63Phe		B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.S63F	ENST00000316423.6	37	c.188	CCDS3455.1	4	.	.	.	.	.	.	.	.	.	.	G	19.15	3.770924	0.69992	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698	T;T;T;T;T;T;T	0.77877	-1.13;-1.11;-1.13;-1.13;-1.13;-1.13;-1.13	5.66	5.66	0.87406	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.051171	0.85682	D	0.000000	T	0.78947	0.4364	L	0.57536	1.79	0.80722	D	1	B;B	0.26975	0.165;0.017	B;B	0.33568	0.166;0.032	T	0.76623	-0.2891	10	0.56958	D	0.05	-10.1498	18.7386	0.91765	0.0:0.0:1.0:0.0	.	63;63	B3KUU2;O60701	.;UGDH_HUMAN	F	63;63;63;76;63;63;63	ENSP00000319501:S63F;ENSP00000422909:S63F;ENSP00000421757:S63F;ENSP00000421954:S76F;ENSP00000425834:S63F;ENSP00000422603:S63F;ENSP00000422565:S63F	ENSP00000319501:S63F	S	-	2	0	UGDH	39192174	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.732000	0.91534	2.660000	0.90430	0.555000	0.69702	TCC	-	UGDH	-	pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man		0.313	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	HGNC	protein_coding	OTTHUMT00000216818.3	0	0		80	80		0.00		G	NM_003359		39515779	-1	40		80		tier1	no_errors	ENST00000316423	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	40	80
HOXD1	3231	genome.wustl.edu	37	2	177054551	177054551	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:177054551A>G	ENST00000331462.4	+	2	891	c.668A>G	c.(667-669)tAt>tGt	p.Y223C	HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000413969.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	223					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CTCGCCGAGTATGGGGCCGCT	0.527													ENSG00000128645																																					0													69.0	80.0	76.0					2																	177054551		2203	4300	6503	SO:0001583	missense	0			-		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.668A>G	2.37:g.177054551A>G	ENSP00000328598:p.Tyr223Cys		B2RAB4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.Y223C	ENST00000331462.4	37	c.668	CCDS2271.1	2	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950786	0.34471	.	.	ENSG00000128645	ENST00000331462	D	0.91068	-2.78	5.45	-1.77	0.07982	Homeodomain-related (1);Homeodomain-like (1);	0.164535	0.29126	N	0.013066	D	0.90508	0.7026	M	0.79475	2.455	0.45015	D	0.99803	D;B	0.64830	0.994;0.129	P;B	0.52710	0.707;0.103	D	0.86784	0.1981	10	0.54805	T	0.06	.	6.4883	0.22101	0.4704:0.0:0.0657:0.4639	.	223;223	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	C	223	ENSP00000328598:Y223C	ENSP00000328598:Y223C	Y	+	2	0	HOXD1	176762797	0.009000	0.17119	0.191000	0.23289	0.019000	0.09904	0.279000	0.18771	-0.204000	0.10235	-0.333000	0.08304	TAT	-	HOXD1	-	superfamily_Homeodomain-like		0.527	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD1	HGNC	protein_coding	OTTHUMT00000255693.2	0	0		51	51		0.00		A			177054551	+1	25		25		tier1	no_errors	ENST00000331462	ensembl	human	known	74_37	missense	50.00		SNP	0.993	G	25	25
GPR158	57512	genome.wustl.edu	37	10	25887096	25887096	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:25887096C>T	ENST00000376351.3	+	11	2900	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	847					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGAAAATTCCACACTGGAAT	0.488													ENSG00000151025																																					0													106.0	116.0	112.0					10																	25887096		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2541C>T	10.37:g.25887096C>T			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.S847	ENST00000376351.3	37	c.2541	CCDS31166.1	10																																																																																			-	GPR158	-	NULL		0.488	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	0	0		36	36		0.00		C	XM_166110		25887096	+1	8		44		tier1	no_errors	ENST00000376351	ensembl	human	known	74_37	silent	15.38		SNP	0.368	T	8	44
HBD	3045	genome.wustl.edu	37	11	5255235	5255235	+	Missense_Mutation	SNP	G	G	A	rs528751190		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5255235G>A	ENST00000380299.3	-	2	515	c.301C>T	c.(301-303)Cct>Tct	p.P101S	HBD_ENST00000292901.3_Missense_Mutation_p.P101S	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	101					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTTCTCAGGATCCACGTGC	0.478													ENSG00000223609	G|||	1	0.000199681	0.0	0.0	5008	,	,		18111	0.0		0.0	False		,,,				2504	0.001																0													103.0	89.0	94.0					11																	5255235		2201	4298	6499	SO:0001583	missense	0			-	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.301C>T	11.37:g.5255235G>A	ENSP00000369654:p.Pro101Ser		Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin	p.P101S	ENST00000380299.3	37	c.301	CCDS31376.1	11	.	.	.	.	.	.	.	.	.	.	.	20.5	3.998964	0.74818	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.94280	-3.39;-3.39;-3.39	4.43	3.52	0.40303	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.95504	3.68	0.58432	D	0.999998	D	0.56746	0.977	D	0.64410	0.925	D	0.97409	1.0001	10	0.72032	D	0.01	-11.2901	11.5515	0.50723	0.089:0.0:0.911:0.0	.	101	P02042	HBD_HUMAN	S	101	ENSP00000292901:P101S;ENSP00000369654:P101S;ENSP00000393810:P101S	ENSP00000292901:P101S	P	-	1	0	HBD	5211811	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.884000	0.69729	1.218000	0.43458	0.655000	0.94253	CCT	-	HBD	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin		0.478	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBD	HGNC	protein_coding	OTTHUMT00000142970.1	0	0		69	69		0.00		G	NM_000519		5255235	-1	19		127		tier1	no_errors	ENST00000380299	ensembl	human	known	74_37	missense	13.01		SNP	1.000	A	19	127
CAND2	23066	genome.wustl.edu	37	3	12858604	12858604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:12858604C>T	ENST00000456430.2	+	10	2214	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.Q632*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	725					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GACCCAGGCCCAGCCAGCCTC	0.662													ENSG00000144712																									GBM(43;676 868 1633 6395 37496)												0													24.0	26.0	25.0					3																	12858604		2155	4264	6419	SO:0001587	stop_gained	0			-		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2173C>T	3.37:g.12858604C>T	ENSP00000387641:p.Gln725*		B9EGM9|E9KL24	Nonsense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.Q725*	ENST00000456430.2	37	c.2173	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.122003	0.97300	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	.	.	.	4.98	4.98	0.66077	.	0.204103	0.42548	D	0.000689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-12.8656	9.7083	0.40229	0.0:0.9044:0.0:0.0956	.	.	.	.	X	632;725	.	ENSP00000295989:Q632X	Q	+	1	0	CAND2	12833604	0.995000	0.38212	1.000000	0.80357	0.567000	0.35839	2.402000	0.44521	2.451000	0.82905	0.561000	0.74099	CAG	-	CAND2	-	superfamily_ARM-type_fold		0.662	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	0	0		9	9		0.00		C	XM_371617		12858604	+1	8		11		tier1	no_errors	ENST00000456430	ensembl	human	known	74_37	nonsense	42.11		SNP	1.000	T	8	11
GPATCH8	23131	genome.wustl.edu	37	17	42477239	42477239	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42477239G>A	ENST00000591680.1	-	8	2236	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.P658S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	736							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCACTCCCAGGGGGTTCTGGT	0.537													ENSG00000186566																																					0													91.0	93.0	92.0					17																	42477239		2203	4300	6503	SO:0001583	missense	0			-	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2206C>T	17.37:g.42477239G>A	ENSP00000467556:p.Pro736Ser		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.P736S	ENST00000591680.1	37	c.2206	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789403	0.16258	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.10382	2.88	5.21	5.21	0.72293	.	0.128201	0.51477	D	0.000091	T	0.04952	0.0133	N	0.12182	0.205	0.23879	N	0.996587	B	0.14805	0.011	B	0.08055	0.003	T	0.43426	-0.9392	10	0.07325	T	0.83	-13.6009	8.0016	0.30299	0.0862:0.0:0.7511:0.1627	.	736	Q9UKJ3	GPTC8_HUMAN	S	736;658	ENSP00000395016:P658S	ENSP00000335486:P736S	P	-	1	0	GPATCH8	39832765	0.622000	0.27085	0.956000	0.39512	0.862000	0.49288	2.031000	0.41117	2.716000	0.92895	0.561000	0.74099	CCT	-	GPATCH8	-	NULL		0.537	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	0	0		24	24		0.00		G	NM_001002909		42477239	-1	8		17		tier1	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	32.00		SNP	0.095	A	8	17
KDM4B	23030	genome.wustl.edu	37	19	5133995	5133995	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5133995G>A	ENST00000159111.4	+	14	2226	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	KDM4B_ENST00000536461.1_Missense_Mutation_p.E704K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	670					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTTCCAGGCCGAGAGGAAGTT	0.662													ENSG00000127663																																					0													68.0	80.0	76.0					19																	5133995		2203	4300	6503	SO:0001583	missense	0			-	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2008G>A	19.37:g.5133995G>A	ENSP00000159111:p.Glu670Lys		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E670K	ENST00000159111.4	37	c.2008	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.754429	0.96890	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.54675	0.56;0.56	3.87	3.87	0.44632	.	0.056968	0.64402	D	0.000002	T	0.73337	0.3574	M	0.80982	2.52	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.981	T	0.79598	-0.1737	10	0.87932	D	0	-30.3778	16.1948	0.82021	0.0:0.0:1.0:0.0	.	704;670	F5GX28;O94953	.;KDM4B_HUMAN	K	670;704	ENSP00000159111:E670K;ENSP00000440495:E704K	ENSP00000159111:E670K	E	+	1	0	KDM4B	5084995	1.000000	0.71417	0.820000	0.32676	0.982000	0.71751	9.602000	0.98312	1.858000	0.53909	0.561000	0.74099	GAG	-	KDM4B	-	NULL		0.662	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	0	0		86	86		0.00		G	NM_015015		5133995	+1	34		61		tier1	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	35.79		SNP	1.000	A	34	61
CNBD2	140894	genome.wustl.edu	37	20	34596372	34596372	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34596372C>T	ENST00000373973.3	+	9	1297	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	CNBD2_ENST00000538900.1_Missense_Mutation_p.P375L|CNBD2_ENST00000349339.1_Missense_Mutation_p.P375L			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	375			P -> S (in dbSNP:rs6060750). {ECO:0000269|PubMed:14702039}.														GACACTCTCCCCAAGATGCTG	0.502													ENSG00000149646																																					0													52.0	52.0	52.0					20																	34596372		2203	4300	6503	SO:0001583	missense	0			-	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1124C>T	20.37:g.34596372C>T	ENSP00000363084:p.Pro375Leu		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P375L	ENST00000373973.3	37	c.1124		20	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947722	0.53186	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.12672	2.67;2.67;2.66	4.5	4.5	0.54988	Cyclic nucleotide-binding-like (1);	0.185586	0.36591	N	0.002515	T	0.21427	0.0516	M	0.67953	2.075	0.48341	D	0.999638	P;P	0.47962	0.844;0.903	B;P	0.46275	0.23;0.51	T	0.00536	-1.1683	10	0.62326	D	0.03	-12.0748	13.0094	0.58724	0.0:1.0:0.0:0.0	.	375;375	Q96M20;Q96M20-2	CT152_HUMAN;.	L	375	ENSP00000363084:P375L;ENSP00000340954:P375L;ENSP00000442729:P375L	ENSP00000340954:P375L	P	+	2	0	C20orf152	34059786	0.811000	0.29063	0.971000	0.41717	0.011000	0.07611	2.944000	0.49034	2.797000	0.96272	0.561000	0.74099	CCC	-	CNBD2	-	superfamily_cNMP-bd-like		0.502	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	0	0		32	32		0.00		C	NM_080834		34596372	+1	16		48		tier1	no_errors	ENST00000373973	ensembl	human	known	74_37	missense	25.00		SNP	0.969	T	16	48
LY6G6C	80740	genome.wustl.edu	37	6	31691544	31691544	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31691544C>T	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Silent_p.L64L|LY6G6C_ENST00000495859.1_5'Flank|C6orf25_ENST00000375805.2_Silent_p.L64L|C6orf25_ENST00000375809.3_Silent_p.L64L|C6orf25_ENST00000480039.1_Silent_p.L64L	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						CCGACCGATCCTGTGGGCCTC	0.677													ENSG00000204420																																					0													44.0	51.0	49.0					6																	31691544		2203	4298	6501	SO:0001631	upstream_gene_variant	0			-		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691544C>T	Exception_encountered		Q5SRS8|Q8IY94	Silent	SNP	NULL	p.L64	ENST00000375819.2	37	c.190	CCDS4714.1	6																																																																																			-	C6orf25	-	NULL		0.677	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf25	HGNC	protein_coding	OTTHUMT00000076530.2	0	0		21	21		0.00		C			31691544	+1	10		26		tier1	no_errors	ENST00000375806	ensembl	human	known	74_37	silent	27.78		SNP	0.954	T	10	26
RNF130	55819	genome.wustl.edu	37	5	179390555	179390555	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:179390555A>G	ENST00000521389.1	-	8	1575	c.1160T>C	c.(1159-1161)tTt>tCt	p.F387S	RNF130_ENST00000522208.2_Intron|RNF130_ENST00000261947.4_Intron|CTC-563A5.2_ENST00000510240.1_RNA	NM_018434.4	NP_060904.2			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAATAATAAACCATTCTTC	0.433													ENSG00000113269																									GBM(24;432 554 38471 39699 51728)												0													118.0	97.0	104.0					5																	179390555		2203	4300	6503	SO:0001583	missense	0			-	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000521389.1:c.1160T>C	5.37:g.179390555A>G	ENSP00000430237:p.Phe387Ser			Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.F387S	ENST00000521389.1	37	c.1160	CCDS4451.1	5	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201616	0.79015	.	.	ENSG00000113269	ENST00000521389	T	0.05319	3.46	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000004	T	0.13114	0.0318	N	0.14661	0.345	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.17349	-1.0372	10	0.72032	D	0.01	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	387	Q86XS8	GOLI_HUMAN	S	387	ENSP00000430237:F387S	ENSP00000430237:F387S	F	-	2	0	RNF130	179323161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.593000	0.82686	2.192000	0.70111	0.459000	0.35465	TTT	-	RNF130	-	NULL		0.433	RNF130-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF130	HGNC	protein_coding	OTTHUMT00000253499.3	0	0		54	54		0.00		A	NM_018434		179390555	-1	38		52		tier1	no_errors	ENST00000521389	ensembl	human	known	74_37	missense	42.22		SNP	1.000	G	38	52
RP11-353N4.5	0	genome.wustl.edu	37	1	149649208	149649208	+	lincRNA	SNP	C	C	T	rs587721505		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:149649208C>T	ENST00000608683.1	-	0	404																											TCACAGTCATCGTATGCTGAC	0.408													ENSG00000234232	.|||	1	0.000199681	0.0	0.0	5008	,	,		25423	0.0		0.0	False		,,,				2504	0.001																0																																												0			-																													1.37:g.149649208C>T				R	SNP	-	NULL	ENST00000608683.1	37	NULL		1																																																																																			-	RP11-353N4.5	-	-		0.408	RP11-353N4.5-006	KNOWN	basic	lincRNA	ENSG00000234232	Clone_based_vega_gene	lincRNA	OTTHUMT00000472690.1	0	0		15	15		0.00		C			149649208	-1	4		7		tier1	no_errors	ENST00000608683	ensembl	human	known	74_37	rna	36.36		SNP	0.976	T	4	7
ATP8B2	57198	genome.wustl.edu	37	1	154315647	154315647	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154315647G>A	ENST00000368489.3	+	16	1611	c.1611G>A	c.(1609-1611)agG>agA	p.R537R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	523					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGCAGCCAGGAACTTTGGTT	0.557													ENSG00000143515																																					0													77.0	62.0	67.0					1																	154315647		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1611G>A	1.37:g.154315647G>A			B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	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.R537	ENST00000368489.3	37	c.1611	CCDS1066.1	1																																																																																			-	ATP8B2	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	0	0		15	15		0.00		G	NM_020452		154315647	+1	9		16		tier1	no_errors	ENST00000368489	ensembl	human	known	74_37	silent	34.62		SNP	0.963	A	9	16
ZBP1	81030	genome.wustl.edu	37	20	56191429	56191429	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:56191429C>T	ENST00000371173.3	-	2	307	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000541799.1_Missense_Mutation_p.E44K|ZBP1_ENST00000340462.4_Missense_Mutation_p.E44K|ZBP1_ENST00000343535.4_Missense_Mutation_p.E44K	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	44					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGGTTGAGCTCCCTCTTGGGT	0.577													ENSG00000124256																																					0													174.0	164.0	167.0					20																	56191429		2203	4300	6503	SO:0001583	missense	0			-	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.130G>A	20.37:g.56191429C>T	ENSP00000360215:p.Glu44Lys		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	pfam_dsR_A_deaminase,smart_dsR_A_deaminase	p.E44K	ENST00000371173.3	37	c.130	CCDS13461.1	20	.	.	.	.	.	.	.	.	.	.	C	5.820	0.335510	0.11013	.	.	ENSG00000124256	ENST00000371173;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	3.63	0.162	0.14981	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (1);	1.597630	0.03829	N	0.268829	T	0.28863	0.0716	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.24651	0.02;0.108;0.108	B;B;B	0.26517	0.013;0.07;0.07	T	0.16867	-1.0388	10	0.12103	T	0.63	-2.5919	2.7307	0.05226	0.0:0.2746:0.2623:0.4631	.	44;44;44	F5GYT1;A2RRL9;Q9H171	.;.;ZBP1_HUMAN	K	44	ENSP00000360215:E44K;ENSP00000344954:E44K;ENSP00000340584:E44K;ENSP00000440552:E44K	ENSP00000344954:E44K	E	-	1	0	ZBP1	55624835	0.031000	0.19500	0.057000	0.19452	0.838000	0.47535	-0.146000	0.10250	0.043000	0.15746	0.561000	0.74099	GAG	-	ZBP1	-	pfam_dsR_A_deaminase,smart_dsR_A_deaminase		0.577	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1	0	0		61	61		0.00		C	NM_030776		56191429	-1	13		74		tier1	no_errors	ENST00000343535	ensembl	human	known	74_37	missense	14.94		SNP	0.072	T	13	74
BTLA	151888	genome.wustl.edu	37	3	112198324	112198324	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:112198324G>C	ENST00000334529.5	-	2	583	c.381C>G	c.(379-381)caC>caG	p.H127Q	BTLA_ENST00000383680.4_Missense_Mutation_p.H127Q	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	127	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				GAGTTGTTGAGTGGCTTTCAA	0.383													ENSG00000186265																																					0													145.0	139.0	141.0					3																	112198324		2203	4300	6503	SO:0001583	missense	0			-	AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.381C>G	3.37:g.112198324G>C	ENSP00000333919:p.His127Gln		Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.H127Q	ENST00000334529.5	37	c.381	CCDS33819.1	3	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578912	0.46006	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.10477	2.87;2.87	3.42	-0.747	0.11091	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000167	T	0.20820	0.0501	L	0.54323	1.7	0.31218	N	0.697865	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.06041	-1.0849	10	0.66056	D	0.02	-13.5214	6.5148	0.22242	0.5078:0.0:0.4922:0.0	.	127;127	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	Q	127	ENSP00000333919:H127Q;ENSP00000373178:H127Q	ENSP00000333919:H127Q	H	-	3	2	BTLA	113681014	0.656000	0.27385	0.854000	0.33618	0.095000	0.18619	-0.006000	0.12833	-0.172000	0.10779	0.655000	0.94253	CAC	-	BTLA	-	smart_Ig_sub,pfscan_Ig-like_dom		0.383	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTLA	HGNC	protein_coding	OTTHUMT00000354101.1	0	0		64	64		0.00		G	NM_181780		112198324	-1	20		69		tier1	no_errors	ENST00000334529	ensembl	human	known	74_37	missense	22.47		SNP	0.887	C	20	69
LOC101243545	101243545	genome.wustl.edu	37	3	161147358	161147358	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:161147358G>A	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						GGAGGGGCAGGAGCTTCCTTC	0.433													ENSG00000269888																																					0													67.0	80.0	75.0					3																	161147358		1494	2699	4193			0			-																													3.37:g.161147358G>A				R	SNP	-	NULL	ENST00000473595.1	37	NULL		3																																																																																			-	RP11-3P17.5	-	-		0.433	RP11-3P17.4-001	KNOWN	basic	lincRNA	ENSG00000269888	Clone_based_vega_gene	lincRNA	OTTHUMT00000353185.1	0	0		95	95		0.00		G			161147358	+1	18		81		tier1	no_errors	ENST00000602890	ensembl	human	known	74_37	rna	18.18		SNP	1.000	A	18	81
CYP4B1	1580	genome.wustl.edu	37	1	47280766	47280766	+	Silent	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47280766G>T	ENST00000271153.4	+	8	936	c.900G>T	c.(898-900)ctG>ctT	p.L300L	CYP4B1_ENST00000371919.4_Silent_p.L286L|CYP4B1_ENST00000452782.2_Silent_p.L138L|CYP4B1_ENST00000371923.4_Silent_p.L301L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	300					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ACATCAAACTGTCAGATGCAG	0.483													ENSG00000142973																																					0													104.0	83.0	90.0					1																	47280766		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.900G>T	1.37:g.47280766G>T			Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450	p.C277F	ENST00000271153.4	37	c.830	CCDS542.1	1																																																																																			-	CYP4B1	-	NULL		0.483	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	0	0		37	37		0.00		G	NM_000779		47280766	+1	12		25		tier1	no_errors	ENST00000464439	ensembl	human	known	74_37	missense	32.43		SNP	1.000	T	12	25
ANKRD13D	338692	genome.wustl.edu	37	11	67059201	67059201	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:67059201C>T	ENST00000447274.2	+	5	1439	c.264C>T	c.(262-264)ttC>ttT	p.F88F	ANKRD13D_ENST00000514166.1_Silent_p.F88F|ANKRD13D_ENST00000308440.6_Silent_p.F88F|ANKRD13D_ENST00000511455.2_Silent_p.F175F			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	88						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAGGAGCTTCATCTTCAAGG	0.622													ENSG00000172932																																					0													57.0	54.0	55.0					11																	67059201		2200	4295	6495	SO:0001819	synonymous_variant	0			-	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.264C>T	11.37:g.67059201C>T			D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.F175	ENST00000447274.2	37	c.525		11																																																																																			-	ANKRD13D	-	pfam_ANKRD13		0.622	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	0	0		40	40		0.00		C	NM_207354		67059201	+1	16		27		tier1	no_errors	ENST00000511455	ensembl	human	known	74_37	silent	37.21		SNP	1.000	T	16	27
OR11H1	81061	genome.wustl.edu	37	22	16449127	16449127	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:16449127G>A	ENST00000252835.4	-	1	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TAATAAAGAGGAAGTTACCAA	0.433													ENSG00000130538																																					0													56.0	57.0	56.0					22																	16449127		2201	4293	6494	SO:0001819	synonymous_variant	0			-	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.678C>T	22.37:g.16449127G>A			Q6IEX0|Q96R32	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F226	ENST00000252835.4	37	c.678	CCDS33594.1	22																																																																																			-	OR11H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	0	0		90	90		0.00		G	NM_001005239		16449127	-1	38		79		tier1	no_errors	ENST00000252835	ensembl	human	known	74_37	silent	32.48		SNP	0.051	A	38	79
NKTR	4820	genome.wustl.edu	37	3	42675116	42675116	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:42675116C>T	ENST00000232978.8	+	10	1006	c.818C>T	c.(817-819)tCc>tTc	p.S273F	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	273					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAGTTGATTCCAGTGCTAAA	0.393													ENSG00000114857																																					0													113.0	117.0	115.0					3																	42675116		2203	4300	6503	SO:0001583	missense	0			-		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.818C>T	3.37:g.42675116C>T	ENSP00000232978:p.Ser273Phe			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.S273F	ENST00000232978.8	37	c.818	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781765	0.31502	.	.	ENSG00000114857	ENST00000232978	T	0.13196	2.61	5.63	4.57	0.56435	.	0.617378	0.16527	N	0.210550	T	0.10380	0.0254	N	0.22421	0.69	0.09310	N	1	B	0.23540	0.087	B	0.26693	0.072	T	0.12967	-1.0527	10	0.52906	T	0.07	-0.5573	9.6231	0.39734	0.0:0.7991:0.0:0.2009	.	273	P30414	NKTR_HUMAN	F	273	ENSP00000232978:S273F	ENSP00000232978:S273F	S	+	2	0	NKTR	42650120	0.011000	0.17503	0.743000	0.31040	0.725000	0.41563	0.669000	0.25142	2.644000	0.89710	0.557000	0.71058	TCC	-	NKTR	-	NULL		0.393	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	0	0		79	79		0.00		C	NM_005385		42675116	+1	33		82		tier1	no_errors	ENST00000232978	ensembl	human	known	74_37	missense	28.70		SNP	0.030	T	33	82
GNA11	2767	genome.wustl.edu	37	19	3122116	3122116	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3122116C>T	ENST00000078429.4	+	0	2261				AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GGATGGTCCCCCGGTGACACT	0.652			Mis		uveal melanoma								ENSG00000267688																												Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0																																										SO:0001624	3_prime_UTR_variant	0			-	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.*939C>T	19.37:g.3122116C>T			O15109|Q14350|Q6IB00	R	SNP	-	NULL	ENST00000078429.4	37	NULL	CCDS12103.1	19																																																																																			-	AC005262.2	-	-		0.652	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267688	Clone_based_vega_gene	protein_coding	OTTHUMT00000452261.2	0	0		31	31		0.00		C	NM_002067		3122116	-1	10		34		tier1	no_errors	ENST00000585980	ensembl	human	known	74_37	rna	22.73		SNP	0.001	T	10	34
NAPA	8775	genome.wustl.edu	37	19	47999982	47999982	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:47999982G>A	ENST00000263354.3	-	4	595				NAPA_ENST00000595227.1_Intron|NAPA_ENST00000593785.1_5'UTR|NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha						apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CGGTCTGGATGGGACTCCAAA	0.617													ENSG00000105402																									Ovarian(185;1135 2042 27703 31345 42493)												0																																										SO:0001627	intron_variant	0			-	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.296-1129C>T	19.37:g.47999982G>A			A8K879|Q96IK3|Q9BVJ3	R	SNP	-	NULL	ENST00000263354.3	37	NULL	CCDS12702.1	19																																																																																			-	PA	-	-		0.617	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA	HGNC	protein_coding	OTTHUMT00000466048.2	0	0		24	24		0.00		G	NM_003827		47999982	-1	7		25		tier1	no_errors	ENST00000593785	ensembl	human	known	74_37	rna	21.88		SNP	0.013	A	7	25
TRPC4	7223	genome.wustl.edu	37	13	38266464	38266464	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:38266464G>A	ENST00000379705.3	-	4	1763	c.906C>T	c.(904-906)gcC>gcT	p.A302A	TRPC4_ENST00000447043.1_Silent_p.A302A|TRPC4_ENST00000379673.2_Silent_p.A302A|TRPC4_ENST00000379679.1_Silent_p.A129A|TRPC4_ENST00000338947.5_Silent_p.A129A|TRPC4_ENST00000355779.2_Silent_p.A302A|TRPC4_ENST00000358477.2_Silent_p.A302A|TRPC4_ENST00000426868.2_Silent_p.A302A|TRPC4_ENST00000379681.3_Silent_p.A302A			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	302	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTGGGCTGGGCAACAAACT	0.433													ENSG00000133107																																					0													52.0	42.0	46.0					13																	38266464		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.906C>T	13.37:g.38266464G>A			B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A302	ENST00000379705.3	37	c.906	CCDS9365.1	13																																																																																			-	TRPC4	-	tigrfam_TRP_channel		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	0	0		19	19		0.00		G	NM_003306		38266464	-1	11		15		tier1	no_errors	ENST00000379681	ensembl	human	known	74_37	silent	42.31		SNP	0.998	A	11	15
PCDH9	5101	genome.wustl.edu	37	13	67802372	67802372	+	Silent	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:67802372A>T	ENST00000377865.2	-	1	335	c.201T>A	c.(199-201)gtT>gtA	p.V67V	PCDH9_ENST00000328454.5_Silent_p.V67V|PCDH9_ENST00000456367.1_Silent_p.V67V|PCDH9_ENST00000544246.1_Silent_p.V67V|PCDH9_ENST00000377861.3_Silent_p.V67V			Q9HC56	PCDH9_HUMAN	protocadherin 9	67	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAGCTTTAGAAACCAGTCTGT	0.483													ENSG00000184226																																					0													72.0	70.0	71.0					13																	67802372		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.201T>A	13.37:g.67802372A>T			A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V67	ENST00000377865.2	37	c.201	CCDS9444.1	13																																																																																			-	PCDH9	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	0	0		48	48		0.00		A	NM_203487		67802372	-1	12		44		tier1	no_errors	ENST00000377865	ensembl	human	known	74_37	silent	21.43		SNP	1.000	T	12	44
STK40	83931	genome.wustl.edu	37	1	36824356	36824356	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36824356A>T	ENST00000373129.3	-	4	586	c.180T>A	c.(178-180)gaT>gaA	p.D60E	STK40_ENST00000359297.2_Missense_Mutation_p.D60E|STK40_ENST00000373132.3_Missense_Mutation_p.D60E|STK40_ENST00000373130.3_Missense_Mutation_p.D65E|STK40_ENST00000482458.1_5'UTR	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GATAGAAGTCATCCGTGCCAT	0.572													ENSG00000196182																																					0													183.0	137.0	153.0					1																	36824356		2203	4300	6503	SO:0001583	missense	0			-	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.180T>A	1.37:g.36824356A>T	ENSP00000362221:p.Asp60Glu		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	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.D65E	ENST00000373129.3	37	c.195	CCDS407.1	1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.481262	0.84747	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.88	2.17	0.27698	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	L	0.56769	1.78	0.45962	D	0.998785	D;D;D	0.71674	0.961;0.997;0.998	P;D;D	0.67725	0.593;0.921;0.953	T	0.69057	-0.5246	10	0.72032	D	0.01	-15.071	9.4754	0.38869	0.7947:0.0:0.2053:0.0	.	60;65;60	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	E	60;60;65;60	ENSP00000362221:D60E;ENSP00000352245:D60E;ENSP00000362222:D65E;ENSP00000362224:D60E	ENSP00000352245:D60E	D	-	3	2	STK40	36596943	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	3.104000	0.50306	0.112000	0.17975	0.454000	0.30748	GAT	-	STK40	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.572	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STK40	HGNC	protein_coding	OTTHUMT00000022592.1	0	0		21	21		0.00		A	NM_032017		36824356	-1	14		20		tier1	no_errors	ENST00000373130	ensembl	human	known	74_37	missense	41.18		SNP	1.000	T	14	20
EXOC6B	23233	genome.wustl.edu	37	2	72692418	72692418	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:72692418C>T	ENST00000272427.6	-	18	1981	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K	EXOC6B_ENST00000410104.1_Silent_p.K617K	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	617					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						ACTGGTCAATCTTCTGGTTTA	0.398													ENSG00000144036																																					0													120.0	116.0	118.0					2																	72692418		1925	4131	6056	SO:0001819	synonymous_variant	0			-	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1851G>A	2.37:g.72692418C>T			B8ZZY3	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.K617	ENST00000272427.6	37	c.1851	CCDS46333.1	2																																																																																			-	EXOC6B	-	pfam_Sec15,pirsf_Sec15		0.398	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	0	0		100	100		0.00		C	XM_039570		72692418	-1	26		73		tier1	no_errors	ENST00000272427	ensembl	human	known	74_37	silent	26.26		SNP	1.000	T	26	73
NOX1	27035	genome.wustl.edu	37	X	100104375	100104375	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:100104375G>A	ENST00000372966.3	-	11	1542	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.S409F|NOX1_ENST00000217885.5_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	446	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTTGAACCAGGAAAAGGCACC	0.448													ENSG00000007952																																					0													90.0	65.0	73.0					X																	100104375		2203	4300	6503	SO:0001583	missense	0			-	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1337C>T	X.37:g.100104375G>A	ENSP00000362057:p.Ser446Phe		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.S446F	ENST00000372966.3	37	c.1337	CCDS14474.1	X	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860396	0.32884	.	.	ENSG00000007952	ENST00000372966;ENST00000372960;ENST00000372957	D;D	0.95756	-3.8;-3.8	4.38	3.49	0.39957	Ferric reductase, NAD binding (1);	0.290279	0.32640	N	0.005827	D	0.92254	0.7543	L	0.34521	1.04	0.26650	N	0.972114	P;P	0.42941	0.794;0.64	B;B	0.43916	0.378;0.436	D	0.87958	0.2728	10	0.87932	D	0	-4.0075	11.052	0.47896	0.0963:0.0:0.9037:0.0	.	409;446	A6NGA6;Q9Y5S8	.;NOX1_HUMAN	F	446;409;135	ENSP00000362057:S446F;ENSP00000362051:S409F	ENSP00000362048:S135F	S	-	2	0	NOX1	99991031	1.000000	0.71417	0.989000	0.46669	0.703000	0.40648	2.968000	0.49224	2.015000	0.59207	0.544000	0.68410	TCC	-	NOX1	-	pfam_Fe_red_D-bd_6		0.448	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	0	0		46	46		0.00		G	NM_007052		100104375	-1	29		20		tier1	no_errors	ENST00000372966	ensembl	human	known	74_37	missense	59.18		SNP	1.000	A	29	20
SIPA1L3	23094	genome.wustl.edu	37	19	38655169	38655169	+	Missense_Mutation	SNP	C	C	G	rs564884663		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38655169C>G	ENST00000222345.6	+	15	4340	c.3831C>G	c.(3829-3831)aaC>aaG	p.N1277K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1277					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCCAGCAACGCATCCAGCA	0.617													ENSG00000105738																																					0													86.0	81.0	82.0					19																	38655169		2203	4300	6503	SO:0001583	missense	0			-	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3831C>G	19.37:g.38655169C>G	ENSP00000222345:p.Asn1277Lys		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.N1277K	ENST00000222345.6	37	c.3831	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645136	0.67358	.	.	ENSG00000105738	ENST00000222345	T	0.49720	0.77	4.53	1.14	0.20703	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.66297	2.02	0.41346	D	0.987332	D	0.67145	0.996	P	0.61477	0.889	T	0.56032	-0.8046	10	0.72032	D	0.01	-41.5598	7.4922	0.27469	0.0:0.5472:0.0:0.4528	.	1277	O60292	SI1L3_HUMAN	K	1277	ENSP00000222345:N1277K	ENSP00000222345:N1277K	N	+	3	2	SIPA1L3	43347009	0.039000	0.19947	0.965000	0.40720	0.988000	0.76386	-0.794000	0.04584	0.038000	0.15604	-0.145000	0.13849	AAC	-	SIPA1L3	-	NULL		0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	0	0		57	57		0.00		C	XM_032278		38655169	+1	34		38		tier1	no_errors	ENST00000222345	ensembl	human	known	74_37	missense	47.22		SNP	1.000	G	34	38
ABCA2	20	genome.wustl.edu	37	9	139904588	139904588	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139904588G>A	ENST00000371605.3	-	41	6498				ABCA2_ENST00000265662.5_Intron|ABCA2_ENST00000341511.6_Intron			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2						ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGGGACACGGCAGCTGTCAG	0.716													ENSG00000107331																																					0													9.0	11.0	10.0					9																	139904588		2098	4180	6278	SO:0001627	intron_variant	0			-	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6351-12C>T	9.37:g.139904588G>A			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	R	SNP	-	NULL	ENST00000371605.3	37	NULL		9																																																																																			-	ABCA2	-	-		0.716	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		0	0		18	18		0.00		G	NM_001606		139904588	-1	9		18		tier1	no_errors	ENST00000437791	ensembl	human	known	74_37	rna	33.33		SNP	0.002	A	9	18
CEP68	23177	genome.wustl.edu	37	2	65301556	65301556	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:65301556C>T	ENST00000377990.2	+	4	2210				CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_3'UTR|CEP68_ENST00000260569.4_Intron|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa						centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCGGTCCTGGCTCTGGCTTGT	0.428													ENSG00000011523																																					0													126.0	126.0	126.0					2																	65301556		2203	4300	6503	SO:0001627	intron_variant	0			-	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.2007+18C>T	2.37:g.65301556C>T			B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	R	SNP	-	NULL	ENST00000377990.2	37	NULL	CCDS1880.2	2																																																																																			-	CEP68	-	-		0.428	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	0	0		61	61		0.00		C	NM_015147		65301556	+1	37		69		tier1	no_errors	ENST00000497039	ensembl	human	known	74_37	rna	34.91		SNP	0.557	T	37	69
ZNF233	353355	genome.wustl.edu	37	19	44778226	44778226	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44778226G>A	ENST00000391958.2	+	5	1540	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	ZNF233_ENST00000334152.1_Silent_p.Q453Q|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	471					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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AAGCCCATCAGAGAATCCACA	0.453													ENSG00000159915																																					0													55.0	63.0	61.0					19																	44778226		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1413G>A	19.37:g.44778226G>A			B2RN78|B2RN79|Q86WL8	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.Q471	ENST00000391958.2	37	c.1413	CCDS33047.1	19																																																																																			-	ZNF233	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	0	0		43	43		0.00		G	NM_181756		44778226	+1	13		52		tier1	no_errors	ENST00000391958	ensembl	human	known	74_37	silent	20.00		SNP	0.950	A	13	52
ZNF695	57116	genome.wustl.edu	37	1	247109044	247109044	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247109044G>A	ENST00000487338.2	-	0	758				ZNF695_ENST00000498046.2_5'UTR	NM_001204221.1	NP_001191150	Q8IW36	ZN695_HUMAN	zinc finger protein 695						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCGCCTCACGGAGCAGGGAG	0.507													ENSG00000197472																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000487338.2:c.*55C>T	1.37:g.247109044G>A			Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	R	SNP	-	NULL	ENST00000487338.2	37	NULL	CCDS55694.1	1																																																																																			-	ZNF695	-	-		0.507	ZNF695-006	KNOWN	basic|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000098003.4	0	0		39	39		0.00		G	NM_020394		247109044	-1	13		50		tier1	no_errors	ENST00000498046	ensembl	human	known	74_37	rna	20.63		SNP	0.000	A	13	50
PILRB	29990	genome.wustl.edu	37	7	99955901	99955901	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:99955901C>T	ENST00000452089.1	+	0	1035				PILRB_ENST00000448382.1_Silent_p.P114P|PILRB_ENST00000610247.1_5'UTR|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_5'UTR|PILRB_ENST00000609309.1_5'UTR			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGGTCTCCCCGTCCCCTGG	0.682													ENSG00000121716																																					0													55.0	66.0	63.0					7																	99955901		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.-25C>T	7.37:g.99955901C>T			Q69YF9|Q9HBS0	Silent	SNP	NULL	p.P114	ENST00000452089.1	37	c.342	CCDS43622.1	7																																																																																			-	PILRB	-	NULL		0.682	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2	0	0		146	146		0.00		C	NM_178238		99955901	+1	32		179		tier1	no_errors	ENST00000448382	ensembl	human	known	74_37	silent	15.17		SNP	0.000	T	32	179
GALNT8	26290	genome.wustl.edu	37	12	4835976	4835976	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:4835976C>T	ENST00000252318.2	+	2	827	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	164					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCGCACCATCCCCGACACGCG	0.557													ENSG00000130035																									Colon(108;631 1558 7270 20097 39846)												0													71.0	65.0	67.0					12																	4835976		2203	4300	6503	SO:0001583	missense	0			-	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.490C>T	12.37:g.4835976C>T	ENSP00000252318:p.Pro164Ser		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P164S	ENST00000252318.2	37	c.490	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298653	0.81025	.	.	ENSG00000130035	ENST00000252318	T	0.60797	0.16	4.46	4.46	0.54185	.	0.212901	0.27951	N	0.017197	T	0.66886	0.2835	M	0.76838	2.35	0.36597	D	0.87446	D	0.61080	0.989	P	0.52109	0.69	T	0.75733	-0.3214	9	.	.	.	.	12.4799	0.55836	0.0:1.0:0.0:0.0	.	164	Q9NY28	GALT8_HUMAN	S	164	ENSP00000252318:P164S	.	P	+	1	0	GALNT8	4706237	0.478000	0.25917	0.693000	0.30195	0.766000	0.43426	1.884000	0.39668	2.296000	0.77279	0.655000	0.94253	CCC	-	GALNT8	-	NULL		0.557	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	0	0		49	49		0.00		C	NM_017417		4835976	+1	35		44		tier1	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	44.30		SNP	0.999	T	35	44
PAH	5053	genome.wustl.edu	37	12	103237521	103237521	+	Missense_Mutation	SNP	C	C	T	rs62516097		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:103237521C>T	ENST00000553106.1	-	11	1574	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	PAH_ENST00000307000.2_Missense_Mutation_p.E363K	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	368			Missing (in PKU). {ECO:0000269|PubMed:1363837}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTCTCCAGCTCCAGGGGGAGA	0.463													ENSG00000171759																																					0													96.0	94.0	94.0					12																	103237521		2203	4300	6503	SO:0001583	missense	0			-	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1102G>A	12.37:g.103237521C>T	ENSP00000448059:p.Glu368Lys		Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.E368K	ENST00000553106.1	37	c.1102	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805755	0.50421	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99656	-6.31;-6.31	5.24	5.24	0.73138	Aromatic amino acid hydroxylase, C-terminal (3);	0.398599	0.29775	N	0.011226	D	0.99023	0.9666	M	0.81802	2.56	0.58432	D	0.999999	B	0.23990	0.095	B	0.28553	0.091	D	0.98655	1.0681	10	0.87932	D	0	-9.5026	13.1729	0.59609	0.0:0.9232:0.0:0.0768	.	368	P00439	PH4H_HUMAN	K	368;363	ENSP00000448059:E368K;ENSP00000303500:E363K	ENSP00000303500:E363K	E	-	1	0	PAH	101761651	1.000000	0.71417	0.993000	0.49108	0.119000	0.20118	4.807000	0.62576	2.438000	0.82558	0.591000	0.81541	GAG	-	PAH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra		0.463	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	0	0		48	48		0.00		C			103237521	-1	5		39		tier1	no_errors	ENST00000553106	ensembl	human	known	74_37	missense	11.36		SNP	1.000	T	5	39
LSM11	134353	genome.wustl.edu	37	5	157178427	157178427	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:157178427C>T	ENST00000286307.5	+	2	534	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	160					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGTGAACTCCATCGCTGTAT	0.507													ENSG00000155858																																					0													109.0	101.0	104.0					5																	157178427		2203	4300	6503	SO:0001583	missense	0			-	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.478C>T	5.37:g.157178427C>T	ENSP00000286307:p.His160Tyr		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.H160Y	ENST00000286307.5	37	c.478	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197594	0.38806	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.76	5.76	0.90799	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.202845	0.47455	D	0.000227	T	0.34658	0.0905	N	0.05124	-0.11	0.40426	D	0.979899	B	0.30326	0.276	B	0.32393	0.145	T	0.31696	-0.9934	9	0.45353	T	0.12	-13.4329	15.0877	0.72167	0.1417:0.8583:0.0:0.0	.	160	P83369	LSM11_HUMAN	Y	160	.	ENSP00000286307:H160Y	H	+	1	0	LSM11	157111005	0.989000	0.36119	0.998000	0.56505	0.993000	0.82548	2.622000	0.46427	2.882000	0.98803	0.655000	0.94253	CAT	-	LSM11	-	superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc		0.507	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2	0	0		59	59		0.00		C	NM_173491		157178427	+1	34		63		tier1	no_errors	ENST00000286307	ensembl	human	known	74_37	missense	35.05		SNP	0.990	T	34	63
CSMD1	64478	genome.wustl.edu	37	8	2976057	2976057	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:2976057C>T	ENST00000520002.1	-	43	6852	c.6297G>A	c.(6295-6297)atG>atA	p.M2099I	CSMD1_ENST00000537824.1_Missense_Mutation_p.M2098I|CSMD1_ENST00000542608.1_Missense_Mutation_p.M2098I|CSMD1_ENST00000602723.1_Missense_Mutation_p.M2099I|CSMD1_ENST00000602557.1_Missense_Mutation_p.M2099I|CSMD1_ENST00000400186.3_Missense_Mutation_p.M2099I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2099	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGAGTTGATCATGTACCCAT	0.418													ENSG00000183117																																					0													140.0	137.0	138.0					8																	2976057		2001	4166	6167	SO:0001583	missense	0			-			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6297G>A	8.37:g.2976057C>T	ENSP00000430733:p.Met2099Ile		Q0H0J5|Q96QU9|Q96RM4	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.M2099I	ENST00000520002.1	37	c.6297		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.438|9.438	1.087322|1.087322	0.20390|0.20390	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.61158	.|0.13;0.13;0.13;0.13	5.03|5.03	4.14|4.14	0.48551|0.48551	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.126603	.|0.51477	.|N	.|0.000088	T|T	0.39332|0.39332	0.1074|0.1074	N|N	0.01081|0.01081	-1.03|-1.03	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.53885	.|0.963;0.0;0.0	.|D;B;B	.|0.64776	.|0.929;0.002;0.003	T|T	0.45234|0.45234	-0.9275|-0.9275	5|10	.|0.41790	.|T	.|0.15	.|.	4.1479|4.1479	0.10224|0.10224	0.0:0.5926:0.2291:0.1783|0.0:0.5926:0.2291:0.1783	.|.	.|2099;2099;2098	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	N|I	1579|2099;2099;1960;2098;2098	.|ENSP00000383047:M2099I;ENSP00000430733:M2099I;ENSP00000441462:M2098I;ENSP00000446243:M2098I	.|ENSP00000320445:M1960I	D|M	-|-	1|3	0|0	CSMD1|CSMD1	2963464|2963464	0.957000|0.957000	0.32711|0.32711	0.998000|0.998000	0.56505|0.56505	0.892000|0.892000	0.51952|0.51952	0.654000|0.654000	0.24918|0.24918	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	GAT|ATG	-	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	0	0		99	99		0.00		C	NM_033225		2976057	-1	11		95		tier1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	10.38		SNP	0.946	T	11	95
ACBD6	84320	genome.wustl.edu	37	1	180257560	180257560	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:180257560C>T	ENST00000367595.3	-	8	1474	c.787G>A	c.(787-789)Gag>Aag	p.E263K	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	263						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CCTGTCACCTCCTCTGGCAGG	0.522													ENSG00000135847																																					0													49.0	48.0	48.0					1																	180257560		2203	4300	6503	SO:0001583	missense	0			-	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.787G>A	1.37:g.180257560C>T	ENSP00000356567:p.Glu263Lys			Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl-CoA-binding_protein,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Acyl-CoA-binding_protein,prints_Ankyrin_rpt	p.E263K	ENST00000367595.3	37	c.787	CCDS1339.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.543982	0.96488	.	.	ENSG00000135847	ENST00000367595	T	0.50813	0.73	5.66	5.66	0.87406	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	L	0.35487	1.065	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.57112	-0.7867	10	0.41790	T	0.15	-21.0854	19.3412	0.94342	0.0:1.0:0.0:0.0	.	263	Q9BR61	ACBD6_HUMAN	K	263	ENSP00000356567:E263K	ENSP00000356567:E263K	E	-	1	0	ACBD6	178524183	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.702000	0.74628	2.645000	0.89757	0.650000	0.86243	GAG	-	ACBD6	-	NULL		0.522	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD6	HGNC	protein_coding	OTTHUMT00000084998.1	0	0		33	33		0.00		C	NM_032360		180257560	-1	14		26		tier1	no_errors	ENST00000367595	ensembl	human	known	74_37	missense	35.00		SNP	1.000	T	14	26
YY2	404281	genome.wustl.edu	37	X	21875571	21875571	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:21875571C>T	ENST00000429584.2	+	1	1467	c.969C>T	c.(967-969)tcC>tcT	p.S323S	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	323	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AACGCTTTTCCCTTGATTTCA	0.532													ENSG00000230797																																					0													180.0	179.0	180.0					X																	21875571		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.969C>T	X.37:g.21875571C>T			B2RP10|Q6Q1S4	Silent	SNP	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.S323	ENST00000429584.2	37	c.969	CCDS14202.1	X																																																																																			-	YY2	-	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2		0.532	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY2	HGNC	protein_coding	OTTHUMT00000056025.1	0	0		19	19		0.00		C	NM_206923		21875571	+1	20		13		tier1	no_errors	ENST00000429584	ensembl	human	known	74_37	silent	60.61		SNP	0.988	T	20	13
IL32	9235	genome.wustl.edu	37	16	3118197	3118197	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3118197G>A	ENST00000534507.1	+	5	507	c.296G>A	c.(295-297)gGc>gAc	p.G99D	IL32_ENST00000530890.1_Missense_Mutation_p.G33D|IL32_ENST00000551122.1_Missense_Mutation_p.G53D|IL32_ENST00000396887.3_Missense_Mutation_p.G53D|IL32_ENST00000552664.1_Missense_Mutation_p.G53D|IL32_ENST00000552936.1_Missense_Mutation_p.G77D|IL32_ENST00000549213.1_Missense_Mutation_p.G53D|IL32_ENST00000526464.2_Missense_Mutation_p.G53D|IL32_ENST00000548476.1_Missense_Mutation_p.G99D|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000552356.1_Missense_Mutation_p.G33D|IL32_ENST00000548246.1_Intron|IL32_ENST00000325568.5_Missense_Mutation_p.G53D|IL32_ENST00000528163.2_Missense_Mutation_p.G53D|IL32_ENST00000529699.1_Intron|IL32_ENST00000444393.3_Missense_Mutation_p.G53D|IL32_ENST00000551513.1_Missense_Mutation_p.G90D|IL32_ENST00000008180.9_Missense_Mutation_p.G33D|IL32_ENST00000530538.2_Missense_Mutation_p.G53D|IL32_ENST00000531965.1_Missense_Mutation_p.G43D|IL32_ENST00000525643.2_Missense_Mutation_p.G53D|IL32_ENST00000440815.3_Missense_Mutation_p.G53D|IL32_ENST00000382213.3_Missense_Mutation_p.G44D|IL32_ENST00000548652.1_Missense_Mutation_p.G44D|IL32_ENST00000396890.2_Missense_Mutation_p.G99D|IL32_ENST00000533097.2_Missense_Mutation_p.G53D|IL32_ENST00000529550.1_Missense_Mutation_p.G53D			P24001	IL32_HUMAN	interleukin 32	99					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TTCAAAGAGGGCTACCTGGAG	0.602													ENSG00000008517																																					0													83.0	62.0	69.0					16																	3118197		2196	4300	6496	SO:0001583	missense	0			-	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.296G>A	16.37:g.3118197G>A	ENSP00000431775:p.Gly99Asp		A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	NULL	p.G99D	ENST00000534507.1	37	c.296		16	.	.	.	.	.	.	.	.	.	.	G	3.606	-0.080552	0.07141	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000525228;ENST00000548652;ENST00000525377;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72725	-0.67;0.31;0.29;0.27;-0.67;-0.67;-0.67;0.27;-0.67;0.31;-0.67;0.3;-0.67;-0.67;0.3;0.31;-0.68;-0.68;0.31;-0.67;0.27;0.31;0.31;-0.67;0.3;0.31;-0.68	1.9	-3.8	0.04307	.	.	.	.	.	T	0.36166	0.0957	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.002	B;B;B;B;B	0.09377	0.004;0.004;0.004;0.004;0.004	T	0.19484	-1.0304	9	0.02654	T	1	.	1.3261	0.02126	0.1601:0.3658:0.2284:0.2457	.	44;33;99;53;53	A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;IL32_HUMAN;.;.	D	53;99;43;53;53;53;53;53;53;99;53;33;53;53;33;99;24;44;99;53;53;77;99;53;33;90;44	ENSP00000324742:G53D;ENSP00000431775:G99D;ENSP00000433177:G43D;ENSP00000380096:G53D;ENSP00000450364:G53D;ENSP00000405063:G53D;ENSP00000437020:G53D;ENSP00000447496:G53D;ENSP00000432218:G53D;ENSP00000448354:G99D;ENSP00000432850:G53D;ENSP00000433747:G33D;ENSP00000411958:G53D;ENSP00000432917:G53D;ENSP00000008180:G33D;ENSP00000380099:G99D;ENSP00000431740:G24D;ENSP00000446624:G44D;ENSP00000433866:G99D;ENSP00000436929:G53D;ENSP00000447812:G53D;ENSP00000447033:G77D;ENSP00000449483:G99D;ENSP00000448683:G53D;ENSP00000446978:G33D;ENSP00000449147:G90D;ENSP00000371648:G44D	ENSP00000008180:G33D	G	+	2	0	IL32	3058198	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.799000	0.01746	-3.768000	0.00109	-0.329000	0.08387	GGC	-	IL32	-	NULL		0.602	IL32-002	KNOWN	basic	protein_coding	IL32	HGNC	protein_coding	OTTHUMT00000394812.2	0	0		30	30		0.00		G	NM_004221		3118197	+1	9		29		tier1	no_errors	ENST00000396890	ensembl	human	known	74_37	missense	23.68		SNP	0.000	A	9	29
KRT20	54474	genome.wustl.edu	37	17	39032616	39032616	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39032616G>A	ENST00000167588.3	-	8	1313	c.1272C>T	c.(1270-1272)atC>atT	p.I424I		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	424	Tail.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TAGCTATTTAGATATTTTCTT	0.388													ENSG00000171431																																					0													156.0	142.0	147.0					17																	39032616		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1272C>T	17.37:g.39032616G>A			B2R6W7	Silent	SNP	pfam_IF,prints_Keratin_I	p.I424	ENST00000167588.3	37	c.1272	CCDS11379.1	17																																																																																			-	KRT20	-	NULL		0.388	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2	0	0		59	59		0.00		G			39032616	-1	8		53		tier1	no_errors	ENST00000167588	ensembl	human	known	74_37	silent	13.11		SNP	0.000	A	8	53
TMEM245	23731	genome.wustl.edu	37	9	111881966	111881966	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:111881966G>A	ENST00000374586.3	-	1	259	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	76						integral component of membrane (GO:0016021)											AGGCCTCCAGGATGAAGTAGA	0.662													ENSG00000106771																																					0													9.0	18.0	15.0					9																	111881966		2023	4155	6178	SO:0001819	synonymous_variant	0			-	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.228C>T	9.37:g.111881966G>A			B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	pfam_UPF0118	p.I76	ENST00000374586.3	37	c.228	CCDS43858.1	9																																																																																			-	TMEM245	-	NULL		0.662	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM245	HGNC	protein_coding	OTTHUMT00000053587.2	0	0		12	12		0.00		G	NM_032012		111881966	-1	4		16		tier1	no_errors	ENST00000374586	ensembl	human	known	74_37	silent	20.00		SNP	1.000	A	4	16
HSPB8	26353	genome.wustl.edu	37	12	119631631	119631631	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:119631631C>T	ENST00000281938.2	+	3	1230	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	187					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACGAGCTTCCCCAGGACAG	0.517													ENSG00000152137																																					0													101.0	92.0	95.0					12																	119631631		2203	4300	6503	SO:0001583	missense	0			-	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.559C>T	12.37:g.119631631C>T	ENSP00000281938:p.Pro187Ser		B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.P187S	ENST00000281938.2	37	c.559	CCDS9189.1	12	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771676	0.69992	.	.	ENSG00000152137	ENST00000281938	D	0.86627	-2.15	4.29	4.29	0.51040	.	0.374714	0.28241	N	0.016065	D	0.82774	0.5110	L	0.29908	0.895	0.58432	D	0.999992	D	0.56287	0.975	P	0.46362	0.514	T	0.82259	-0.0546	9	.	.	.	.	16.0174	0.80450	0.0:1.0:0.0:0.0	.	187	Q9UJY1	HSPB8_HUMAN	S	187	ENSP00000281938:P187S	.	P	+	1	0	HSPB8	118116014	0.990000	0.36364	1.000000	0.80357	0.887000	0.51463	2.448000	0.44926	2.396000	0.81511	0.561000	0.74099	CCC	-	HSPB8	-	NULL		0.517	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB8	HGNC	protein_coding	OTTHUMT00000401647.1	0	0		71	71		0.00		C	NM_014365		119631631	+1	21		74		tier1	no_errors	ENST00000281938	ensembl	human	known	74_37	missense	22.11		SNP	1.000	T	21	74
AXDND1	126859	genome.wustl.edu	37	1	179399630	179399630	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:179399630G>A	ENST00000367618.3	+	14	1763	c.1376G>A	c.(1375-1377)tGg>tAg	p.W459*	AXDND1_ENST00000457238.2_Nonsense_Mutation_p.W459*|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	459										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						ACACAAAAATGGAGAAACTTA	0.328													ENSG00000162779																																					0													89.0	87.0	88.0					1																	179399630		2203	4300	6503	SO:0001587	stop_gained	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.1376G>A	1.37:g.179399630G>A	ENSP00000356590:p.Trp459*		Q6AWB2|Q96LJ3|Q96M01	Nonsense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.W459*	ENST00000367618.3	37	c.1376	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326749	0.81690	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	.	.	.	5.09	5.09	0.68999	.	0.138860	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8752	14.3497	0.66691	0.0:0.0:1.0:0.0	.	.	.	.	X	459;417;459;393	.	ENSP00000353471:W417X	W	+	2	0	AXDND1	177666253	1.000000	0.71417	0.913000	0.36048	0.489000	0.33432	2.980000	0.49321	2.523000	0.85059	0.460000	0.39030	TGG	-	AXDND1	-	NULL		0.328	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	0	0		83	83		0.00		G	NM_144696		179399630	+1	41		51		tier1	no_errors	ENST00000367618	ensembl	human	known	74_37	nonsense	44.57		SNP	0.993	A	41	51
SYNE1	23345	genome.wustl.edu	37	6	152570314	152570314	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:152570314G>A	ENST00000367255.5	-	105	20155	c.19554C>T	c.(19552-19554)ccC>ccT	p.P6518P	SYNE1_ENST00000265368.4_Silent_p.P6518P|SYNE1_ENST00000423061.1_Silent_p.P6447P|SYNE1_ENST00000356820.4_Silent_p.P1042P|SYNE1_ENST00000341594.5_Silent_p.P6130P|SYNE1_ENST00000448038.1_Silent_p.P6447P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6518					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCTGCTACGGGCTGTTCAA	0.358										HNSCC(10;0.0054)			ENSG00000131018																																					0													109.0	105.0	106.0					6																	152570314		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19554C>T	6.37:g.152570314G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.P6518	ENST00000367255.5	37	c.19554	CCDS5236.2	6																																																																																			-	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	0	0		65	65		0.00		G	NM_182961		152570314	-1	9		85		tier1	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	9.57		SNP	0.192	A	9	85
RP1L1	94137	genome.wustl.edu	37	8	10480423	10480423	+	Missense_Mutation	SNP	C	C	T	rs142083988	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:10480423C>T	ENST00000382483.3	-	2	512	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	97	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCCATCTTCCAGCTGCTCC	0.647													ENSG00000183638																																					0													20.0	23.0	22.0					8																	10480423		1994	4168	6162	SO:0001583	missense	0			-	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.289G>A	8.37:g.10480423C>T	ENSP00000371923:p.Glu97Lys		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E97K	ENST00000382483.3	37	c.289	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	c	19.91	3.913912	0.72983	.	.	ENSG00000183638	ENST00000382483	D	0.93133	-3.17	4.74	2.93	0.34026	.	.	.	.	.	D	0.94729	0.8299	L	0.51853	1.615	0.32785	N	0.501891	D	0.64830	0.994	D	0.65010	0.931	D	0.95015	0.8155	9	0.72032	D	0.01	-9.6764	13.5498	0.61726	0.0:0.5617:0.4383:0.0	.	97	A6NKC6	.	K	97	ENSP00000371923:E97K	ENSP00000371923:E97K	E	-	1	0	RP1L1	10517833	1.000000	0.71417	0.763000	0.31416	0.837000	0.47467	3.834000	0.55798	0.609000	0.30018	0.550000	0.68814	GAA	-	RP1L1	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	0	0		106	106		0.00		C			10480423	-1	13		83		tier1	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	13.54		SNP	1.000	T	13	83
MYBPC3	4607	genome.wustl.edu	37	11	47353736	47353736	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:47353736C>T	ENST00000545968.1	-	33	3755	c.3701G>A	c.(3700-3702)gGa>gAa	p.G1234E	MYBPC3_ENST00000399249.2_Missense_Mutation_p.G1234E|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G1233E	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1234	Ig-like C2-type 7.				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)		AGTCAACACTCCCTGCTTGCT	0.562													ENSG00000134571																																					0													82.0	85.0	84.0					11																	47353736		1965	4154	6119	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.3701G>A	11.37:g.47353736C>T	ENSP00000442795:p.Gly1234Glu		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.G1234E	ENST00000545968.1	37	c.3701	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.112501	0.94339	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.66995	-0.24;-0.24;-0.24	5.46	5.46	0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82568	0.5065	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83731	0.0198	9	0.56958	D	0.05	.	18.0769	0.89430	0.0:1.0:0.0:0.0	.	1233	Q14896	MYPC3_HUMAN	E	1234;1234;1233	ENSP00000442795:G1234E;ENSP00000382193:G1234E;ENSP00000256993:G1233E	ENSP00000256993:G1233E	G	-	2	0	MYBPC3	47310312	0.993000	0.37304	0.955000	0.39395	0.974000	0.67602	5.745000	0.68672	2.556000	0.86216	0.561000	0.74099	GGA	-	MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.562	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	0	0		47	47		0.00		C			47353736	-1	22		50		tier1	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	30.56		SNP	1.000	T	22	50
AGT	183	genome.wustl.edu	37	1	230839074	230839074	+	Splice_Site	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:230839074A>C	ENST00000366667.4	-	5	1485	c.1271T>G	c.(1270-1272)gTg>gGg	p.V424G		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	424					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGTTCAGCACCTGCAAAGC	0.567													ENSG00000135744																																					0													80.0	78.0	79.0					1																	230839074		2203	4300	6503	SO:0001630	splice_region_variant	0			-	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1270-1T>G	1.37:g.230839074A>C			Q16358|Q16359|Q96F91	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen	p.V424G	ENST00000366667.4	37	c.1271	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	a	16.65	3.180877	0.57800	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.87809	-2.3	5.35	5.35	0.76521	Serpin domain (3);	0.134589	0.50627	D	0.000115	D	0.92185	0.7522	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92803	0.6258	10	0.87932	D	0	.	11.7198	0.51675	1.0:0.0:0.0:0.0	.	424;424	B0ZBE2;P01019	.;ANGT_HUMAN	G	424;342	ENSP00000355627:V424G	ENSP00000355627:V424G	V	-	2	0	AGT	228905697	0.999000	0.42202	0.991000	0.47740	0.425000	0.31504	4.829000	0.62737	2.025000	0.59659	0.478000	0.44815	GTG	-	AGT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.567	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	0	0		54	54		0.00		A	NM_000029	Missense_Mutation	230839074	-1	12		54		tier1	no_errors	ENST00000366667	ensembl	human	known	74_37	missense	18.18		SNP	0.999	C	12	54
LIG4	3981	genome.wustl.edu	37	13	108863299	108863299	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:108863299G>A	ENST00000356922.4	-	2	590	c.318C>T	c.(316-318)gcC>gcT	p.A106A	LIG4_ENST00000405925.1_Silent_p.A106A|LIG4_ENST00000442234.1_Silent_p.A106A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	106					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAAGTTTGAGGGCATCTTTTC	0.378								Non-homologous end-joining					ENSG00000174405																																					0													132.0	140.0	137.0					13																	108863299		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.318C>T	13.37:g.108863299G>A			Q8IY66|Q8TEU5	Silent	SNP	pfam_D_ligase_ATP-dep_cent,pfam_D_ligase_ATP-dep_N,pfam_D_ligase_IV,pfam_BRCT_dom,pfam_D_ligase_ATP-dep_C,superfamily_-bd_OB-fold,superfamily_BRCT_dom,superfamily_D_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_D_ligase_ATP-dep_cent,tigrfam_D_ligase_ATP-dep	p.A106	ENST00000356922.4	37	c.318	CCDS9508.1	13																																																																																			-	LIG4	-	pfam_D_ligase_ATP-dep_N,superfamily_D_ligase_ATP-dep_N,tigrfam_D_ligase_ATP-dep		0.378	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	0	0		50	50		0.00		G	NM_002312		108863299	-1	10		22		tier1	no_errors	ENST00000356922	ensembl	human	known	74_37	silent	31.25		SNP	0.093	A	10	22
MTCL1	23255	genome.wustl.edu	37	18	8825819	8825819	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:8825819C>T	ENST00000306329.11	+	13	5268	c.5268C>T	c.(5266-5268)acC>acT	p.T1756T	SOGA2_ENST00000517570.1_Silent_p.T1396T|SOGA2_ENST00000400050.3_Silent_p.T1396T|SOGA2_ENST00000518815.1_Silent_p.T762T|SOGA2_ENST00000306285.7_Silent_p.T762T|SOGA2_ENST00000359865.3_Silent_p.T1437T																							CCGTGCACACCACCATTAATG	0.617													ENSG00000168502																																					0													56.0	63.0	60.0					18																	8825819		2203	4300	6503	SO:0001819	synonymous_variant	0			-																												ENST00000306329.11:c.5268C>T	18.37:g.8825819C>T				Silent	SNP	pfam_SOGA	p.T1437	ENST00000306329.11	37	c.4311		18																																																																																			-	SOGA2	-	NULL		0.617	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	0	0		92	92		0.00		C			8825819	+1	27		45		tier1	no_errors	ENST00000359865	ensembl	human	known	74_37	silent	37.50		SNP	1.000	T	27	45
ZCCHC5	203430	genome.wustl.edu	37	X	77913318	77913318	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:77913318G>A	ENST00000321110.1	-	2	895	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	200							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGAGTTCTAGGAATTCCTGGG	0.547													ENSG00000179300																																					0													37.0	38.0	38.0					X																	77913318		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.600C>T	X.37:g.77913318G>A			B2RMZ0|Q5JQE9	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.F200	ENST00000321110.1	37	c.600	CCDS14440.1	X																																																																																			-	ZCCHC5	-	NULL		0.547	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	0	0		62	62		0.00		G	NM_152694		77913318	-1	31		50		tier1	no_errors	ENST00000321110	ensembl	human	known	74_37	silent	38.27		SNP	0.562	A	31	50
DNAH9	1770	genome.wustl.edu	37	17	11672548	11672548	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:11672548C>T	ENST00000262442.4	+	38	7522	c.7454C>T	c.(7453-7455)tCg>tTg	p.S2485L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2485L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2485	AAA 3. {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)		ACTGGCAAGTCGGTGCTGGTG	0.602													ENSG00000007174																																					0													75.0	67.0	70.0					17																	11672548		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.7454C>T	17.37:g.11672548C>T	ENSP00000262442:p.Ser2485Leu		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.S2485L	ENST00000262442.4	37	c.7454	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158674	0.78226	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.45276	0.9;0.9	5.71	5.71	0.89125	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	D	0.83622	0.0140	10	0.87932	D	0	.	19.8383	0.96670	0.0:1.0:0.0:0.0	.	2485	Q9NYC9	DYH9_HUMAN	L	2485;2485;1067	ENSP00000262442:S2485L;ENSP00000414874:S2485L	ENSP00000262442:S2485L	S	+	2	0	DNAH9	11613273	1.000000	0.71417	0.913000	0.36048	0.095000	0.18619	7.776000	0.85560	2.696000	0.92011	0.655000	0.94253	TCG	-	DH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH9	HGNC	protein_coding	OTTHUMT00000252756.2	0	0		28	28		0.00		C	NM_001372		11672548	+1	12		38		tier1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	24.00		SNP	1.000	T	12	38
YKT6	10652	genome.wustl.edu	37	7	44244232	44244232	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:44244232C>T	ENST00000223369.2	+	2	257	c.170C>T	c.(169-171)gCt>gTt	p.A57V	YKT6_ENST00000496112.1_Missense_Mutation_p.A57V|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	57	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						GGCACTAGAGCTTCTGTCAAA	0.473													ENSG00000106636																																					0													126.0	110.0	115.0					7																	44244232		2203	4300	6503	SO:0001583	missense	0			-	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.170C>T	7.37:g.44244232C>T	ENSP00000223369:p.Ala57Val		B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin	p.A57V	ENST00000223369.2	37	c.170	CCDS5482.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971739	0.74246	.	.	ENSG00000106636	ENST00000496112;ENST00000223369	T;T	0.22539	1.95;1.95	5.55	5.55	0.83447	Longin (2);Longin-like (1);	0.100576	0.64402	D	0.000002	T	0.19127	0.0459	L	0.45285	1.41	0.80722	D	1	P;B	0.37398	0.593;0.364	B;B	0.29176	0.099;0.099	T	0.02251	-1.1188	10	0.62326	D	0.03	-9.6546	16.4348	0.83872	0.0:1.0:0.0:0.0	.	57;57	B4DR94;O15498	.;YKT6_HUMAN	V	57	ENSP00000420805:A57V;ENSP00000223369:A57V	ENSP00000223369:A57V	A	+	2	0	YKT6	44210757	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.860000	0.75473	2.615000	0.88500	0.650000	0.86243	GCT	-	YKT6	-	superfamily_Longin-like_dom,pfscan_Longin_dom		0.473	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YKT6	HGNC	protein_coding	OTTHUMT00000251125.2	0	0		64	64		0.00		C	NM_006555		44244232	+1	12		98		tier1	no_errors	ENST00000223369	ensembl	human	known	74_37	missense	10.91		SNP	1.000	T	12	98
XIRP1	165904	genome.wustl.edu	37	3	39230562	39230562	+	Silent	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:39230562G>T	ENST00000340369.3	-	2	603	c.375C>A	c.(373-375)gcC>gcA	p.A125A	XIRP1_ENST00000396251.1_Silent_p.A125A|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	125					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCGGGAGGTGGCCTGGACGT	0.617													ENSG00000168334																																					0													73.0	74.0	74.0					3																	39230562		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.375C>A	3.37:g.39230562G>T			A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.A125	ENST00000340369.3	37	c.375	CCDS2683.1	3																																																																																			-	XIRP1	-	NULL		0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	0	0		47	47		0.00		G	XM_093522		39230562	-1	21		45		tier1	no_errors	ENST00000340369	ensembl	human	known	74_37	silent	31.82		SNP	0.991	T	21	45
CAND1	55832	genome.wustl.edu	37	12	67686409	67686409	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:67686409C>T	ENST00000545606.1	+	3	657	c.220C>T	c.(220-222)Cct>Tct	p.P74S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	74					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CAGTCTTGGTCCTTTAGTGAG	0.333													ENSG00000111530																																					0													74.0	73.0	73.0					12																	67686409		2203	4300	6503	SO:0001583	missense	0			-		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.220C>T	12.37:g.67686409C>T	ENSP00000442318:p.Pro74Ser		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.P74S	ENST00000545606.1	37	c.220	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572060	0.86542	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540525	T;T	0.05447	3.44;3.44	5.09	5.09	0.68999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	M	0.91140	3.18	0.80722	D	1	P	0.45902	0.868	B	0.41036	0.346	T	0.21211	-1.0252	9	.	.	.	-13.2488	18.5234	0.90962	0.0:1.0:0.0:0.0	.	74	Q86VP6	CAND1_HUMAN	S	74;74;50	ENSP00000442318:P74S;ENSP00000437594:P50S	.	P	+	1	0	CAND1	65972676	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.786000	0.85741	2.373000	0.80994	0.655000	0.94253	CCT	-	CAND1	-	pfam_HEAT,superfamily_ARM-type_fold		0.333	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	0	0		54	54		0.00		C	NM_018448		67686409	+1	6		58		tier1	no_errors	ENST00000545606	ensembl	human	known	74_37	missense	9.38		SNP	1.000	T	6	58
KCTD8	386617	genome.wustl.edu	37	4	44176909	44176909	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:44176909C>T	ENST00000360029.3	-	2	1603	c.1320G>A	c.(1318-1320)atG>atA	p.M440I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	440					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACACTTTTTCATTTCTTCTT	0.398										HNSCC(17;0.042)			ENSG00000183783																																					0													155.0	163.0	160.0					4																	44176909		2203	4300	6503	SO:0001583	missense	0			-	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1320G>A	4.37:g.44176909C>T	ENSP00000353129:p.Met440Ile		A2RU39	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.M440I	ENST00000360029.3	37	c.1320	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602398	0.28534	.	.	ENSG00000183783	ENST00000360029	T	0.37752	1.18	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000011	T	0.26048	0.0635	N	0.19112	0.55	0.38216	D	0.940623	B	0.31837	0.342	B	0.26094	0.066	T	0.27706	-1.0066	10	0.72032	D	0.01	.	17.002	0.86383	0.0:1.0:0.0:0.0	.	440	Q6ZWB6	KCTD8_HUMAN	I	440	ENSP00000353129:M440I	ENSP00000353129:M440I	M	-	3	0	KCTD8	43871666	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	5.409000	0.66374	2.553000	0.86117	0.557000	0.71058	ATG	-	KCTD8	-	NULL		0.398	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	0	0		68	68		0.00		C			44176909	-1	21		49		tier1	no_errors	ENST00000360029	ensembl	human	known	74_37	missense	29.58		SNP	1.000	T	21	49
MUC16	94025	genome.wustl.edu	37	19	9060452	9060452	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9060452G>A	ENST00000397910.4	-	3	27197	c.26994C>T	c.(26992-26994)tcC>tcT	p.S8998S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9000	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						GGGTCAGGGTGGATGTTGACT	0.502													ENSG00000181143																																					0													153.0	146.0	149.0					19																	9060452		2089	4214	6303	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.26994C>T	19.37:g.9060452G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S8998	ENST00000397910.4	37	c.26994	CCDS54212.1	19																																																																																			-	MUC16	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0		30	30		0.00		G	NM_024690		9060452	-1	9		19		tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	32.14		SNP	0.000	A	9	19
ZNF234	10780	genome.wustl.edu	37	19	44660469	44660469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44660469G>A	ENST00000426739.2	+	6	558	c.300G>A	c.(298-300)tgG>tgA	p.W100*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.W100*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	100	KRNB.				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)				AGCTTTACTGGGGGCAAATCT	0.453													ENSG00000263002																																					0													89.0	91.0	90.0					19																	44660469		1993	4209	6202	SO:0001587	stop_gained	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.300G>A	19.37:g.44660469G>A	ENSP00000400878:p.Trp100*		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W100*	ENST00000426739.2	37	c.300	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242199	0.79912	.	.	ENSG00000167380	ENST00000426739	.	.	.	3.9	-2.47	0.06442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.4468	0.11602	0.0:0.4154:0.1733:0.4114	.	.	.	.	X	100	.	ENSP00000400878:W100X	W	+	3	0	ZNF226	49352309	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-1.486000	0.02312	-0.434000	0.07275	-1.058000	0.02302	TGG	-	ZNF234	-	NULL		0.453	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	0	0		51	51		0.00		G			44660469	+1	7		41		tier1	no_errors	ENST00000426739	ensembl	human	known	74_37	nonsense	14.58		SNP	0.000	A	7	41
ZDHHC23	254887	genome.wustl.edu	37	3	113679598	113679598	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:113679598C>T	ENST00000330212.3	+	0	1547				ZDHHC23_ENST00000498275.1_3'UTR|ZDHHC23_ENST00000488129.1_3'UTR	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23						protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CCGCTTCCTTCCCATGGATAG	0.383													ENSG00000184307																																					0													118.0	118.0	118.0					3																	113679598		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.*18C>T	3.37:g.113679598C>T			D3DN76	R	SNP	-	NULL	ENST00000330212.3	37	NULL	CCDS33827.1	3																																																																																			-	ZDHHC23	-	-		0.383	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	0	0		60	60		0.00		C	NM_173570		113679598	+1	22		49		tier1	no_errors	ENST00000488129	ensembl	human	putative	74_37	rna	30.99		SNP	0.002	T	22	49
EYS	346007	genome.wustl.edu	37	6	64694463	64694463	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:64694463G>A	ENST00000370621.3	-	35	7394	c.6868C>T	c.(6868-6870)Cct>Tct	p.P2290S	EYS_ENST00000370616.2_Missense_Mutation_p.P2290S|EYS_ENST00000503581.1_Missense_Mutation_p.P2290S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2290	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACATTTGCAGGAATATGGCCA	0.348													ENSG00000188107																																					0													146.0	127.0	132.0					6																	64694463		692	1590	2282	SO:0001583	missense	0			-		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6868C>T	6.37:g.64694463G>A	ENSP00000359655:p.Pro2290Ser		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.P2290S	ENST00000370621.3	37	c.6868		6	.	.	.	.	.	.	.	.	.	.	G	5.491	0.275532	0.10403	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.81821	-1.54;-1.54;-1.54	5.38	1.58	0.23477	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.40145	0.1105	N	0.24115	0.695	0.28627	N	0.907859	P;P	0.42908	0.753;0.793	B;B	0.39562	0.303;0.268	T	0.34850	-0.9812	9	0.09338	T	0.73	.	5.1192	0.14851	0.2266:0.0:0.6287:0.1447	.	2290;2290	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	S	2290	ENSP00000424243:P2290S;ENSP00000359655:P2290S;ENSP00000359650:P2290S	ENSP00000359650:P2290S	P	-	1	0	EYS	64752422	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	2.961000	0.49168	0.007000	0.14760	-0.182000	0.12963	CCT	-	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.348	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	0	0		103	103		0.00		G	XM_294050		64694463	-1	11		85		tier1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	11.46		SNP	0.034	A	11	85
FAM222B	55731	genome.wustl.edu	37	17	27086287	27086287	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:27086287G>A	ENST00000341217.5	-	3	905	c.690C>T	c.(688-690)ggC>ggT	p.G230G	FAM222B_ENST00000581407.1_Silent_p.G230G|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.G230G	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	230																	GCATCTTCCGGCCTCCATGCA	0.642													ENSG00000173065																																					0													20.0	22.0	21.0					17																	27086287		2072	4201	6273	SO:0001819	synonymous_variant	0			-	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.690C>T	17.37:g.27086287G>A			Q9H6F3|Q9NVJ4|Q9NXN6	Silent	SNP	NULL	p.G230	ENST00000341217.5	37	c.690	CCDS45637.1	17																																																																																			-	FAM222B	-	NULL		0.642	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222B	HGNC	protein_coding	OTTHUMT00000446703.1	0	0		47	47		0.00		G	NM_018182		27086287	-1	29		41		tier1	no_errors	ENST00000341217	ensembl	human	known	74_37	silent	41.43		SNP	1.000	A	29	41
TBATA	219793	genome.wustl.edu	37	10	72531982	72531982	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:72531982C>T	ENST00000299290.1	-	10	1360				TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											gtctccactcctccccaggtg	0.502													ENSG00000166220																																					0																																										SO:0001627	intron_variant	0			-	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.970+287G>A	10.37:g.72531982C>T			A4QPA8|B2RPQ2|Q5T4G2	R	SNP	-	NULL	ENST00000299290.1	37	NULL	CCDS7308.1	10																																																																																			-	TBATA	-	-		0.502	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	0	0		74	74		0.00		C	NM_152710		72531982	-1	11		48		tier1	no_errors	ENST00000394982	ensembl	human	known	74_37	rna	18.64		SNP	0.000	T	11	48
ATRN	8455	genome.wustl.edu	37	20	3542927	3542927	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3542927G>A	ENST00000262919.5	+	9	1520	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ATRN_ENST00000446916.2_Silent_p.K484K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	484					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCCAGATAAGAACACATGGA	0.483													ENSG00000088812																																					0													233.0	221.0	225.0					20																	3542927		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1452G>A	20.37:g.3542927G>A			A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.K484	ENST00000262919.5	37	c.1452	CCDS13053.1	20																																																																																			-	ATRN	-	NULL		0.483	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	0	0		73	73		0.00		G	NM_139321		3542927	+1	38		61		tier1	no_errors	ENST00000262919	ensembl	human	known	74_37	silent	38.38		SNP	0.872	A	38	61
ZNF462	58499	genome.wustl.edu	37	9	109701298	109701298	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:109701298C>T	ENST00000277225.5	+	7	6626	c.6337C>T	c.(6337-6339)Ccc>Tcc	p.P2113S	ZNF462_ENST00000457913.1_Missense_Mutation_p.P2173S|ZNF462_ENST00000441147.2_Missense_Mutation_p.P1019S|ZNF462_ENST00000542028.1_Missense_Mutation_p.P70S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2113					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCTGACCCTCCCCAGGCCACG	0.542													ENSG00000148143																																					0													239.0	229.0	232.0					9																	109701298		2203	4300	6503	SO:0001583	missense	0			-	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6337C>T	9.37:g.109701298C>T	ENSP00000277225:p.Pro2113Ser		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P2173S	ENST00000277225.5	37	c.6517	CCDS35096.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.147447|5.147447	0.94603|0.94603	.|.	.|.	ENSG00000148143|ENSG00000148143	ENST00000427098|ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	.|T;T;T;T;T	.|0.15952	.|3.43;3.94;4.0;4.0;2.38	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.157463|0.157463	0.48767|0.48767	D|D	0.000161|0.000161	T|T	0.25494|0.25494	0.0620|0.0620	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.61697	.|0.99;0.958;0.958	.|P;P;P	.|0.59288	.|0.855;0.681;0.549	T|T	0.01961|0.01961	-1.1239|-1.1239	6|10	.|0.21014	.|T	.|0.42	.|.	19.8603|19.8603	0.96781|0.96781	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2173;14;2113	.|Q96JM2-3;Q5T0T2;Q96JM2	.|.;.;ZN462_HUMAN	L|S	14|2113;2173;1056;1019;70	.|ENSP00000277225:P2113S;ENSP00000414570:P2173S;ENSP00000363818:P1056S;ENSP00000397306:P1019S;ENSP00000439771:P70S	.|ENSP00000277225:P2113S	P|P	+|+	2|1	0|0	ZNF462|ZNF462	108741119|108741119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	5.636000|5.636000	0.67848|0.67848	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	CCC|CCC	-	ZNF462	-	NULL		0.542	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	0	0		55	55		0.00		C	NM_021224		109701298	+1	18		59		tier1	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	23.38		SNP	1.000	T	18	59
EEPD1	80820	genome.wustl.edu	37	7	36338743	36338743	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:36338743G>A	ENST00000242108.4	+	8	2356	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K	EEPD1_ENST00000534978.1_Silent_p.K546K	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	546					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACTGGAGCAAGAAGGATGCCC	0.572													ENSG00000122547																																					0													84.0	71.0	76.0					7																	36338743		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1638G>A	7.37:g.36338743G>A			Q96K64|Q9C0F7	Silent	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_D-bd_motif,tigrfam_Competence_ComEA_HhH	p.K546	ENST00000242108.4	37	c.1638	CCDS34619.1	7																																																																																			-	EEPD1	-	superfamily_Endo/exonuclease/phosphatase		0.572	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	0	0		58	58		0.00		G	NM_030636		36338743	+1	18		53		tier1	no_errors	ENST00000242108	ensembl	human	known	74_37	silent	25.35		SNP	1.000	A	18	53
FOXS1	2307	genome.wustl.edu	37	20	30432509	30432509	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:30432509G>A	ENST00000375978.3	-	1	911	c.837C>T	c.(835-837)ccC>ccT	p.P279P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	279					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|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)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CTGGAGGGGTGGGTGGTGCAG	0.662													ENSG00000179772																																					0													18.0	21.0	20.0					20																	30432509		2202	4298	6500	SO:0001819	synonymous_variant	0			-	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.837C>T	20.37:g.30432509G>A			Q96D28	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P279	ENST00000375978.3	37	c.837	CCDS13192.1	20																																																																																			-	FOXS1	-	NULL		0.662	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	HGNC	protein_coding	OTTHUMT00000078560.2	0	0		40	40		0.00		G	NM_004118		30432509	-1	13		41		tier1	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	24.07		SNP	0.620	A	13	41
MID1	4281	genome.wustl.edu	37	X	10535288	10535288	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:10535288G>A	ENST00000317552.4	-	2	700	c.300C>T	c.(298-300)acC>acT	p.T100T	MID1_ENST00000380785.1_Silent_p.T100T|MID1_ENST00000453318.2_Silent_p.T100T|MID1_ENST00000380780.1_Silent_p.T100T|MID1_ENST00000380782.2_Silent_p.T100T|MID1_ENST00000380787.1_Silent_p.T100T|MID1_ENST00000380779.1_Silent_p.T100T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	100					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTCCCGACGGGTCTCGCTGG	0.602													ENSG00000101871																																					0													112.0	90.0	97.0					X																	10535288		2203	4300	6503	SO:0001819	synonymous_variant	0			-	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.300C>T	X.37:g.10535288G>A			B2RCG2|O75361|Q9BZX5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T100	ENST00000317552.4	37	c.300	CCDS14138.1	X																																																																																			-	MID1	-	NULL		0.602	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	0	0		17	17		0.00		G			10535288	-1	29		8		tier1	no_errors	ENST00000317552	ensembl	human	known	74_37	silent	78.38		SNP	1.000	A	29	8
DGCR5	26220	genome.wustl.edu	37	22	18981942	18981942	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:18981942C>T	ENST00000438934.1	+	0	5293				DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		GTCCAGGAACCGGACCCATGT	0.627													ENSG00000237517																																					0																																												0			-	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18981942C>T				R	SNP	-	NULL	ENST00000438934.1	37	NULL		22																																																																																			-	DGCR5	-	-		0.627	DGCR5-002	KNOWN	basic	antisense	DGCR5	HGNC	antisense	OTTHUMT00000314912.1	0	0		37	37		0.00		C	NR_002733		18981942	+1	9		41		tier1	no_errors	ENST00000438934	ensembl	human	known	74_37	rna	18.00		SNP	0.808	T	9	41
ASS1	445	genome.wustl.edu	37	9	133355185	133355185	+	Silent	SNP	C	C	T	rs547904731		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:133355185C>T	ENST00000372394.1	+	11	1252	c.771C>T	c.(769-771)gtC>gtT	p.V257V	ASS1_ENST00000352480.5_Silent_p.V257V|ASS1_ENST00000372393.3_Silent_p.V257V|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	257					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGAACGAAGTCGCGTGAGTGT	0.617													ENSG00000130707	C|||	1	0.000199681	0.0008	0.0	5008	,	,		16542	0.0		0.0	False		,,,				2504	0.0																0													73.0	64.0	67.0					9																	133355185		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.771C>T	9.37:g.133355185C>T			Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.V257	ENST00000372394.1	37	c.771	CCDS6933.1	9																																																																																			-	ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.617	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	0	0		43	43		0.00		C	NM_000050		133355185	+1	26		41		tier1	no_errors	ENST00000352480	ensembl	human	known	74_37	silent	38.81		SNP	0.815	T	26	41
GNA11	2767	genome.wustl.edu	37	19	3094703	3094703	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3094703C>T	ENST00000078429.4	+	1	296	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	18					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TGAAGGAGTCCAAGCGGATCA	0.721			Mis		uveal melanoma								ENSG00000088256																												Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0													23.0	24.0	24.0					19																	3094703		2199	4300	6499	SO:0001819	synonymous_variant	0			-	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.54C>T	19.37:g.3094703C>T			O15109|Q14350|Q6IB00	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	p.S18	ENST00000078429.4	37	c.54	CCDS12103.1	19																																																																																			-	G11	-	pfam_Gprotein_alpha_su,prints_Gprotein_alpha_Q		0.721	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G11	HGNC	protein_coding	OTTHUMT00000452261.2	0	0		17	17		0.00		C	NM_002067		3094703	+1	20		19		tier1	no_errors	ENST00000078429	ensembl	human	known	74_37	silent	51.28		SNP	1.000	T	20	19
FAM171A1	221061	genome.wustl.edu	37	10	15255778	15255778	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:15255778G>A	ENST00000378116.4	-	8	1815	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	603						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GATCAGCCGGGACGACGAGGG	0.572													ENSG00000148468																																					0													68.0	75.0	73.0					10																	15255778		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1809C>T	10.37:g.15255778G>A			D3DRT9|Q32M49|Q8N4I0	Silent	SNP	pfam_Uncharacterised_FAM171	p.V603	ENST00000378116.4	37	c.1809	CCDS31154.1	10																																																																																			-	FAM171A1	-	pfam_Uncharacterised_FAM171		0.572	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	0	0		45	45		0.00		G	XM_167709		15255778	-1	18		46		tier1	no_errors	ENST00000378116	ensembl	human	known	74_37	silent	28.12		SNP	0.847	A	18	46
SOCS3	9021	genome.wustl.edu	37	17	76355018	76355018	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:76355018G>A	ENST00000330871.2	-	2	574	c.159C>T	c.(157-159)ggC>ggT	p.G53G	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	53	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TCGCCTCGCCGCCGGTCACTG	0.647													ENSG00000184557																																					0													13.0	12.0	12.0					17																	76355018		2173	4278	6451	SO:0001819	synonymous_variant	0			-	AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.159C>T	17.37:g.76355018G>A			O14509	Silent	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.G53	ENST00000330871.2	37	c.159	CCDS11756.1	17																																																																																			-	SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.647	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	0	0		41	41		0.00		G			76355018	-1	33		54		tier1	no_errors	ENST00000330871	ensembl	human	known	74_37	silent	37.50		SNP	0.997	A	33	54
KCNA6	3742	genome.wustl.edu	37	12	4923696	4923696	+	3'UTR	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:4923696T>C	ENST00000433855.1	+	0	5355				GALNT8_ENST00000541339.1_3'UTR	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TGAAGAATTTTGTCAAGTGAT	0.473										HNSCC(72;0.22)			ENSG00000130035																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000433855.1:c.*2899T>C	12.37:g.4923696T>C				R	SNP	-	NULL	ENST00000433855.1	37	NULL	CCDS8534.1	12																																																																																			-	GALNT8	-	-		0.473	KCNA6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT8	HGNC	protein_coding		0	0		24	24		0.00		T	NM_002235		4923696	+1	8		25		tier1	no_errors	ENST00000541339	ensembl	human	known	74_37	rna	24.24		SNP	0.000	C	8	25
LILRB2	10288	genome.wustl.edu	37	19	54783794	54783794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:54783794C>T	ENST00000391749.4	-	4	478	c.207G>A	c.(205-207)tgG>tgA	p.W69*	LILRB2_ENST00000391748.1_Nonsense_Mutation_p.W69*|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.W69*|LILRB2_ENST00000434421.1_5'UTR|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391746.1_Nonsense_Mutation_p.W69*	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	69	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCGTGTAATCCAAGATGCTG	0.527													ENSG00000131042																																					0													222.0	212.0	216.0					19																	54783794		2203	4300	6503	SO:0001587	stop_gained	0			-	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.207G>A	19.37:g.54783794C>T	ENSP00000375629:p.Trp69*		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Nonsense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W69*	ENST00000391749.4	37	c.207	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070711	0.55539	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	.	.	.	2.48	-3.45	0.04781	.	1.034920	0.07701	N	0.940431	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.2937	0.00262	0.2339:0.3041:0.2316:0.2304	.	.	.	.	X	69	.	ENSP00000319960:W69X	W	-	3	0	LILRB2	59475606	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.009000	0.13219	-0.253000	0.09514	0.298000	0.19748	TGG	-	LILRB2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.527	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	0	0		38	38		0.00		C			54783794	-1	6		36		tier1	no_errors	ENST00000391749	ensembl	human	known	74_37	nonsense	14.29		SNP	0.000	T	6	36
NRDE2	55051	genome.wustl.edu	37	14	90769430	90769430	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:90769430C>T	ENST00000354366.3	-	6	1277	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	NRDE2_ENST00000357904.3_Missense_Mutation_p.E118K	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	349																	TGCTCTCCTTCCTCGATGGCA	0.498													ENSG00000119720																																					0													65.0	64.0	64.0					14																	90769430		2203	4300	6503	SO:0001583	missense	0			-	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1045G>A	14.37:g.90769430C>T	ENSP00000346335:p.Glu349Lys		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.E349K	ENST00000354366.3	37	c.1045	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986406	0.53934	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.30981	1.9;1.51	5.52	5.52	0.82312	Domain of unknown function DUF1740 (1);	0.413669	0.26518	N	0.023929	T	0.18383	0.0441	N	0.25144	0.715	0.37913	D	0.931446	B	0.19445	0.036	B	0.17098	0.017	T	0.08411	-1.0723	10	0.07030	T	0.85	-18.085	11.6765	0.51432	0.0:0.9182:0.0:0.0818	.	349	Q9H7Z3	CN102_HUMAN	K	349;118	ENSP00000346335:E349K;ENSP00000350579:E118K	ENSP00000346335:E349K	E	-	1	0	C14orf102	89839183	0.474000	0.25886	0.999000	0.59377	0.998000	0.95712	4.007000	0.57093	2.590000	0.87494	0.655000	0.94253	GAA	-	NRDE2	-	pfam_NRDE-2		0.498	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	0	0		28	28		0.00		C	NM_017970		90769430	-1	16		6		tier1	no_errors	ENST00000354366	ensembl	human	known	74_37	missense	72.73		SNP	0.870	T	16	6
PRRC2A	7916	genome.wustl.edu	37	6	31603452	31603452	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31603452C>T	ENST00000376033.2	+	24	5701	c.5467C>T	c.(5467-5469)Ccg>Tcg	p.P1823S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1823S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1823						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCACTGTGTCCCGGAGCCCAG	0.592													ENSG00000204469																																					0													37.0	40.0	39.0					6																	31603452		1509	2708	4217	SO:0001583	missense	0			-	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5467C>T	6.37:g.31603452C>T	ENSP00000365201:p.Pro1823Ser		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.P1823S	ENST00000376033.2	37	c.5467	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	4.815	0.151507	0.09185	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01647	4.71;4.71	5.03	3.25	0.37280	.	0.350757	0.24973	N	0.034137	T	0.00784	0.0026	L	0.48642	1.525	0.39139	D	0.962	B	0.12013	0.005	B	0.12837	0.008	T	0.45991	-0.9223	10	0.87932	D	0	-2.8354	4.2838	0.10844	0.1837:0.6333:0.0:0.183	.	1823	P48634	PRC2A_HUMAN	S	1817;1806;1823;1823;1048	ENSP00000365175:P1823S;ENSP00000365201:P1823S	ENSP00000365175:P1823S	P	+	1	0	PRRC2A	31711431	0.956000	0.32656	0.996000	0.52242	0.190000	0.23558	1.029000	0.30140	0.719000	0.32188	-0.268000	0.10319	CCG	-	PRRC2A	-	NULL		0.592	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	0	0		32	32		0.00		C	NM_080686		31603452	+1	18		31		tier1	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	36.73		SNP	0.995	T	18	31
SEPT1	1731	genome.wustl.edu	37	16	30387802	30387802	+	IGR	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30387802C>A	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Silent_p.P77P			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCAGCGGTCCCATCAACTTCA	0.597													ENSG00000180209																																					0													133.0	130.0	131.0					16																	30387802		2197	4300	6497	SO:0001628	intergenic_variant	0			-	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387802C>A			B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.P77	ENST00000571393.1	37	c.231		16																																																																																			-	MYLPF	-	NULL		0.597	SEPT1-201	KNOWN	basic	protein_coding	MYLPF	HGNC	protein_coding		0	0		49	49		0.00		C	NM_052838		30387802	+1	23		35		tier1	no_errors	ENST00000322861	ensembl	human	known	74_37	silent	39.66		SNP	1.000	A	23	35
CFAP61	26074	genome.wustl.edu	37	20	20051575	20051575	+	Missense_Mutation	SNP	C	C	T	rs17852602		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:20051575C>T	ENST00000245957.5	+	3	297	c.221C>T	c.(220-222)cCc>cTc	p.P74L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.P74L|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P74L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		74			P -> R (in dbSNP:rs17852602). {ECO:0000269|PubMed:15489334}.							NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTGGACTACCCCAACTGGAAT	0.498													ENSG00000089101																																					0													103.0	87.0	92.0					20																	20051575		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000245957.5:c.221C>T	20.37:g.20051575C>T	ENSP00000245957:p.Pro74Leu		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.P74L	ENST00000245957.5	37	c.221	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738424	0.89573	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.74976	-0.3480	10	0.87932	D	0	.	15.3966	0.74798	0.0:1.0:0.0:0.0	.	74;74;28;74	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	L	28;74;74;74;74;74;74;74	ENSP00000345553:P28L;ENSP00000245957:P74L;ENSP00000366521:P74L;ENSP00000366518:P74L;ENSP00000417086:P74L;ENSP00000414537:P74L	ENSP00000245957:P74L	P	+	2	0	C20orf26	19999575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.812000	0.62613	2.717000	0.92951	0.655000	0.94253	CCC	-	C20orf26	-	NULL		0.498	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	0	0		47	47		0.00		C			20051575	+1	23		43		tier1	no_errors	ENST00000245957	ensembl	human	known	74_37	missense	34.85		SNP	1.000	T	23	43
CACNA1I	8911	genome.wustl.edu	37	22	40073417	40073417	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:40073417G>A	ENST00000402142.3	+	30	4926	c.4926G>A	c.(4924-4926)ggG>ggA	p.G1642G	CACNA1I_ENST00000404898.1_Silent_p.G1607G|CACNA1I_ENST00000401624.1_Silent_p.G1642G|CACNA1I_ENST00000336649.4_Silent_p.G1648G|CACNA1I_ENST00000400164.3_Silent_p.G1607G|CACNA1I_ENST00000407673.1_Silent_p.G1607G	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1642					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCTCTTTGGGAAGCTGGGTG	0.677													ENSG00000100346																																					0													21.0	21.0	21.0					22																	40073417		1919	4111	6030	SO:0001819	synonymous_variant	0			-	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4926G>A	22.37:g.40073417G>A			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.G1648	ENST00000402142.3	37	c.4944	CCDS46710.1	22																																																																																			-	CAC1I	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.677	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CAC1I	HGNC	protein_coding	OTTHUMT00000321290.1	0	0		14	14		0.00		G	NM_001003406		40073417	+1	8		16		tier1	no_errors	ENST00000336649	ensembl	human	known	74_37	silent	33.33		SNP	1.000	A	8	16
PEX5	5830	genome.wustl.edu	37	12	7362788	7362788	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7362788C>T	ENST00000455147.2	+	17	2469	c.1889C>T	c.(1888-1890)aCc>aTc	p.T630I	PEX5_ENST00000412720.2_Missense_Mutation_p.T651I|PEX5_ENST00000434354.2_Missense_Mutation_p.T645I|PEX5_ENST00000266564.3_Missense_Mutation_p.T622I|PEX5_ENST00000266563.5_Missense_Mutation_p.T593I|PEX5_ENST00000420616.2_Missense_Mutation_p.T630I	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	630					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GATCTGTCCACCCTCCTAACT	0.607													ENSG00000139197																																					0													75.0	68.0	71.0					12																	7362788		2203	4300	6503	SO:0001583	missense	0			-	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1889C>T	12.37:g.7362788C>T	ENSP00000400647:p.Thr630Ile		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T645I	ENST00000455147.2	37	c.1934	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160494	0.38119	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000266564	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.1	4.21	0.49690	.	0.239984	0.41605	D	0.000858	T	0.65873	0.2733	L	0.47190	1.495	0.42141	D	0.991515	P;B;B;B;B	0.52316	0.952;0.001;0.002;0.007;0.259	B;B;B;B;B	0.35813	0.211;0.002;0.005;0.008;0.057	T	0.65261	-0.6211	10	0.19590	T	0.45	.	13.4237	0.61013	0.0:0.9249:0.0:0.0751	.	651;645;630;622;593	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	I	630;593;645;630;651;622	ENSP00000400647:T630I;ENSP00000266563:T593I;ENSP00000407401:T645I;ENSP00000410159:T630I;ENSP00000391601:T651I;ENSP00000266564:T622I	ENSP00000266563:T593I	T	+	2	0	PEX5	7254055	1.000000	0.71417	0.259000	0.24435	0.857000	0.48899	4.784000	0.62411	1.388000	0.46506	0.561000	0.74099	ACC	-	PEX5	-	NULL		0.607	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	0	0		36	36		0.00		C	NM_000319		7362788	+1	4		29		tier1	no_errors	ENST00000434354	ensembl	human	known	74_37	missense	12.12		SNP	0.960	T	4	29
PFDN2	5202	genome.wustl.edu	37	1	161087837	161087837	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:161087837C>T	ENST00000368010.3	-	0	64				NIT1_ENST00000368009.2_5'Flank|PFDN2_ENST00000468311.1_5'UTR|NIT1_ENST00000368007.4_5'Flank|NIT1_ENST00000392190.5_5'Flank|NIT1_ENST00000368008.1_5'Flank	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCTGGGTTTCCGGCCGGCGC	0.736													ENSG00000143256																																					0													22.0	24.0	23.0					1																	161087837		2201	4295	6496	SO:0001623	5_prime_UTR_variant	0			-	AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"""prefoldin 2"""			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.-21G>A	1.37:g.161087837C>T			Q9P0P7|Q9UN05	R	SNP	-	NULL	ENST00000368010.3	37	NULL	CCDS1217.1	1																																																																																			-	PFDN2	-	-		0.736	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN2	HGNC	protein_coding	OTTHUMT00000077100.1	0	0		27	27		0.00		C	NM_012394		161087837	-1	14		20		tier1	no_errors	ENST00000468311	ensembl	human	known	74_37	rna	41.18		SNP	0.998	T	14	20
IQGAP1	8826	genome.wustl.edu	37	15	91027562	91027562	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:91027562G>A	ENST00000268182.5	+	30	4023	c.3899G>A	c.(3898-3900)gGt>gAt	p.G1300D	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G728D	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1300	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATTTCCATTGGTGAAATCATC	0.368													ENSG00000140575																																					0													108.0	102.0	104.0					15																	91027562		2198	4298	6496	SO:0001583	missense	0			-	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3899G>A	15.37:g.91027562G>A	ENSP00000268182:p.Gly1300Asp		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.G1300D	ENST00000268182.5	37	c.3899	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308924	0.40895	.	.	ENSG00000140575	ENST00000268182	T	0.42131	0.98	5.65	5.65	0.86999	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.46614	1.455	0.80722	D	1	B	0.21905	0.062	B	0.17433	0.018	T	0.10917	-1.0609	10	0.26408	T	0.33	-18.5302	19.0935	0.93238	0.0:0.0:1.0:0.0	.	1300	P46940	IQGA1_HUMAN	D	1300	ENSP00000268182:G1300D	ENSP00000268182:G1300D	G	+	2	0	IQGAP1	88828566	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.618000	0.98365	2.827000	0.97445	0.650000	0.86243	GGT	-	IQGAP1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.368	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	0	0		84	84		0.00		G	NM_003870		91027562	+1	33		28		tier1	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	54.10		SNP	1.000	A	33	28
PHACTR2	9749	genome.wustl.edu	37	6	144033200	144033200	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:144033200G>A	ENST00000427704.2	+	2	191	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PHACTR2_ENST00000305766.6_Missense_Mutation_p.A21T|PHACTR2_ENST00000440869.2_Missense_Mutation_p.A32T|PHACTR2_ENST00000367582.3_Missense_Mutation_p.A32T|PHACTR2_ENST00000397980.3_Missense_Mutation_p.A32T|PHACTR2_ENST00000367584.4_Missense_Mutation_p.A89T	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	21							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGGCCCCACAGCAGGTTCCCA	0.403													ENSG00000112419																									Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0													130.0	129.0	129.0					6																	144033200		1840	4087	5927	SO:0001583	missense	0			-	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.61G>A	6.37:g.144033200G>A	ENSP00000391763:p.Ala21Thr		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.A32T	ENST00000427704.2	37	c.94	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023341	0.35701	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000397980;ENST00000367583	T;T;T;T;T	0.33216	1.43;1.88;1.42;1.87;1.43	5.93	0.48	0.16804	.	0.560891	0.21027	N	0.081407	T	0.05502	0.0145	N	0.24115	0.695	0.24656	N	0.993494	B;B;B;B	0.27264	0.173;0.001;0.001;0.001	B;B;B;B	0.22152	0.038;0.003;0.004;0.001	T	0.25082	-1.0142	10	0.59425	D	0.04	.	2.0205	0.03508	0.4532:0.1664:0.262:0.1184	.	32;21;32;21	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	T	89;21;21;32;32;32;32;32	ENSP00000356556:A89T;ENSP00000391763:A21T;ENSP00000305530:A21T;ENSP00000417038:A32T;ENSP00000356554:A32T	ENSP00000305530:A21T	A	+	1	0	PHACTR2	144074893	0.076000	0.21285	0.187000	0.23214	0.871000	0.50021	0.321000	0.19558	0.129000	0.18514	-0.216000	0.12614	GCA	-	PHACTR2	-	NULL		0.403	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2	0	0		108	108		0.00		G	NM_014721		144033200	+1	20		121		tier1	no_errors	ENST00000440869	ensembl	human	known	74_37	missense	14.18		SNP	0.025	A	20	121
DPP6	1804	genome.wustl.edu	37	7	154677385	154677385	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:154677385G>A	ENST00000377770.3	+	22	2317	c.2176G>A	c.(2176-2178)Gga>Aga	p.G726R	DPP6_ENST00000332007.3_Missense_Mutation_p.G664R|DPP6_ENST00000427557.1_Missense_Mutation_p.G619R|DPP6_ENST00000404039.1_Missense_Mutation_p.G662R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	726					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCCAGCAAAGGGAGAAAATCA	0.522													ENSG00000130226																									NSCLC(125;1384 1783 2490 7422 34254)												0													63.0	67.0	66.0					7																	154677385		2004	4182	6186	SO:0001583	missense	0			-	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2176G>A	7.37:g.154677385G>A	ENSP00000367001:p.Gly726Arg			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G726R	ENST00000377770.3	37	c.2176		7	.	.	.	.	.	.	.	.	.	.	G	6.753	0.507720	0.12883	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.43	3.57	0.40892	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.494637	0.22560	N	0.058471	T	0.33147	0.0853	L	0.39633	1.23	0.26873	N	0.967717	B;B;B;B	0.32918	0.166;0.263;0.39;0.201	B;B;B;B	0.32583	0.148;0.085;0.139;0.139	T	0.14671	-1.0464	10	0.41790	T	0.15	-0.1627	10.6247	0.45500	0.1612:0.0:0.8388:0.0	.	619;664;726;662	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	662;726;664;619	ENSP00000385578:G662R;ENSP00000367001:G726R;ENSP00000328226:G664R;ENSP00000397303:G619R	ENSP00000328226:G664R	G	+	1	0	DPP6	154308318	0.765000	0.28485	0.193000	0.23327	0.002000	0.02628	1.059000	0.30517	0.611000	0.30052	-0.218000	0.12543	GGA	-	DPP6	-	pfam_Peptidase_S9		0.522	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	0	0		60	60		0.00		G	NM_130797		154677385	+1	31		47		tier1	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	39.24		SNP	0.601	A	31	47
GABRE	2564	genome.wustl.edu	37	X	151123028	151123028	+	3'UTR	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:151123028C>A	ENST00000370328.3	-	0	1719				GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGACAAACCCTCTGCAAGCT	0.527													ENSG00000102287																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.*145G>T	X.37:g.151123028C>A			E7ET93|O15345|O15346|Q6PCD2|Q99520	R	SNP	-	NULL	ENST00000370328.3	37	NULL	CCDS14703.1	X																																																																																			-	GABRE	-	-		0.527	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	0	0		18	18		0.00		C	NM_004961, NM_021990, NM_021984		151123028	-1	17		6		tier1	no_errors	ENST00000483564	ensembl	human	known	74_37	rna	73.91		SNP	0.001	A	17	6
PCNXL2	80003	genome.wustl.edu	37	1	233134994	233134994	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:233134994G>A	ENST00000258229.9	-	31	5694	c.5460C>T	c.(5458-5460)tcC>tcT	p.S1820S	PCNXL2_ENST00000344698.2_Silent_p.S472S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1820						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTGATCGCAGGAGGAGTTAA	0.557													ENSG00000135749																																					0													63.0	65.0	64.0					1																	233134994		1923	4140	6063	SO:0001819	synonymous_variant	0			-	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5460C>T	1.37:g.233134994G>A			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.S1820	ENST00000258229.9	37	c.5460	CCDS44335.1	1																																																																																			-	PCNXL2	-	pfam_Pecanex		0.557	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	0	0		111	111		0.00		G	NM_014801		233134994	-1	44		115		tier1	no_errors	ENST00000258229	ensembl	human	known	74_37	silent	27.67		SNP	1.000	A	44	115
HARS	3035	genome.wustl.edu	37	5	140056691	140056691	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140056691G>A	ENST00000504156.1	-	9	1553	c.834C>T	c.(832-834)tcC>tcT	p.S278S	HARS_ENST00000415192.2_Silent_p.S204S|HARS_ENST00000431330.2_Silent_p.S164S|HARS_ENST00000457527.2_Silent_p.S258S|HARS_ENST00000504366.1_Silent_p.S209S|HARS_ENST00000448240.1_Silent_p.S83S|HARS_ENST00000307633.3_Silent_p.S218S|HARS_ENST00000438307.2_Silent_p.S238S	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	278					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GTTCCACCAGGGATACCCCAC	0.532													ENSG00000170445																																					0													157.0	167.0	164.0					5																	140056691		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.834C>T	5.37:g.140056691G>A			B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	pfam_aa-tR-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_R-bd,pirsf_HisRS/HisZ,pfscan_aa-tR-synth_II,pfscan_WHEP-TRS,tigrfam_His-tR-ligase	p.S278	ENST00000504156.1	37	c.834	CCDS4237.1	5																																																																																			-	HARS	-	pirsf_HisRS/HisZ,pfscan_aa-tR-synth_II,tigrfam_His-tR-ligase		0.532	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	HGNC	protein_coding	OTTHUMT00000251673.2	0	0		16	16		0.00		G	NM_002109		140056691	-1	8		23		tier1	no_errors	ENST00000504156	ensembl	human	known	74_37	silent	25.00		SNP	0.972	A	8	23
OR4E2	26686	genome.wustl.edu	37	14	22133537	22133537	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:22133537A>G	ENST00000408935.1	+	1	241	c.241A>G	c.(241-243)Atg>Gtg	p.M81V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGTGCCTAAGATGTTGGAGGG	0.443													ENSG00000221977																																					0													268.0	253.0	258.0					14																	22133537		1991	4188	6179	SO:0001583	missense	0			-		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.241A>G	14.37:g.22133537A>G	ENSP00000386195:p.Met81Val		Q6IET6|Q96R62	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M81V	ENST00000408935.1	37	c.241	CCDS41916.1	14	.	.	.	.	.	.	.	.	.	.	A	12.50	1.956882	0.34565	.	.	ENSG00000221977	ENST00000408935	T	0.01933	4.55	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	U	0.000306	T	0.04137	0.0115	L	0.53249	1.67	0.39087	D	0.96102	B	0.31879	0.344	B	0.36335	0.222	T	0.49399	-0.8944	10	0.36615	T	0.2	.	13.197	0.59745	1.0:0.0:0.0:0.0	.	81	Q8NGC2	OR4E2_HUMAN	V	81	ENSP00000386195:M81V	ENSP00000386195:M81V	M	+	1	0	OR4E2	21203377	0.963000	0.33076	1.000000	0.80357	0.903000	0.53119	0.683000	0.25349	2.004000	0.58718	0.477000	0.44152	ATG	-	OR4E2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.443	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	0	0		52	52		0.00		A			22133537	+1	15		40		tier1	no_errors	ENST00000408935	ensembl	human	known	74_37	missense	27.27		SNP	1.000	G	15	40
CLASP2	23122	genome.wustl.edu	37	3	33614734	33614734	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:33614734C>T	ENST00000468888.2	-	26	2640	c.2594G>A	c.(2593-2595)aGt>aAt	p.S865N	CLASP2_ENST00000359576.5_Missense_Mutation_p.S856N|CLASP2_ENST00000539981.1_Missense_Mutation_p.S634N|CLASP2_ENST00000461133.3_Missense_Mutation_p.S623N|CLASP2_ENST00000399362.4_Missense_Mutation_p.S864N|CLASP2_ENST00000307312.7_Missense_Mutation_p.S345N|CLASP2_ENST00000480013.1_Missense_Mutation_p.S644N			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	644					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGTAGGAATACTACCATTTCG	0.438													ENSG00000163539																																					0													273.0	255.0	260.0					3																	33614734		1956	4156	6112	SO:0001583	missense	0			-	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2594G>A	3.37:g.33614734C>T	ENSP00000419974:p.Ser865Asn		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S864N	ENST00000468888.2	37	c.2591		3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031340	0.75504	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000475576	T;T;T	0.20332	2.08;2.09;2.1	5.74	5.74	0.90152	Armadillo-type fold (1);	0.091793	0.85682	D	0.000000	T	0.18467	0.0443	L	0.34521	1.04	0.40925	D	0.984347	B;P;B	0.35272	0.411;0.493;0.161	B;B;B	0.35278	0.051;0.053;0.199	T	0.04053	-1.0981	10	0.22706	T	0.39	-16.3111	16.5445	0.84426	0.0:0.8696:0.1304:0.0	.	644;856;864	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	N	865;864;856;345;634;644;623;155	ENSP00000419974:S865N;ENSP00000382297:S864N;ENSP00000352581:S856N	ENSP00000304743:S345N	S	-	2	0	CLASP2	33589738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.574000	0.60900	2.880000	0.98712	0.650000	0.86243	AGT	-	CLASP2	-	superfamily_ARM-type_fold		0.438	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	0	0		34	34		0.00		C	NM_001207044		33614734	-1	11		18		tier1	no_errors	ENST00000399362	ensembl	human	known	74_37	missense	37.93		SNP	1.000	T	11	18
CORO7	79585	genome.wustl.edu	37	16	4458230	4458230	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4458230G>A	ENST00000251166.4	-	4	400	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Silent_p.F85F|CORO7_ENST00000577144.1_5'UTR|CORO7_ENST00000423908.2_Intron	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	85					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						CAAAGGGCGAGAAGTCCAAGT	0.582													ENSG00000103426																																					0													158.0	135.0	143.0					16																	4458230		2197	4300	6497	SO:0001819	synonymous_variant	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.255C>T	16.37:g.4458230G>A			B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F85	ENST00000251166.4	37	c.255	CCDS10513.1	16																																																																																			-	CORO7-PAM16	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.582	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	0	0		83	83		0.00		G	NM_024535		4458230	-1	45		93		tier1	no_errors	ENST00000572467	ensembl	human	known	74_37	silent	32.37		SNP	1.000	A	45	93
C16orf54	283897	genome.wustl.edu	37	16	29756041	29756041	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:29756041C>T	ENST00000329410.3	-	2	327	c.232G>A	c.(232-234)Gga>Aga	p.G78R	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	78						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CACAGCTCTCCTCCTGGGCGC	0.677													ENSG00000185905																																					0													16.0	16.0	16.0					16																	29756041		2174	4268	6442	SO:0001583	missense	0			-	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.232G>A	16.37:g.29756041C>T	ENSP00000327506:p.Gly78Arg		A6NJR6|Q8NAB0	Missense_Mutation	SNP	NULL	p.G78R	ENST00000329410.3	37	c.232	CCDS10652.1	16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564413	0.86335	.	.	ENSG00000185905	ENST00000329410	T	0.43294	0.95	5.28	5.28	0.74379	.	0.000000	0.41294	U	0.000905	T	0.53658	0.1810	L	0.32530	0.975	0.44275	D	0.997131	D	0.89917	1.0	D	0.97110	1.0	T	0.56384	-0.7988	10	0.87932	D	0	-7.2985	14.3999	0.67037	0.0:1.0:0.0:0.0	.	78	Q6UWD8	CP054_HUMAN	R	78	ENSP00000327506:G78R	ENSP00000327506:G78R	G	-	1	0	C16orf54	29663542	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.320000	0.51991	2.479000	0.83701	0.313000	0.20887	GGA	-	C16orf54	-	NULL		0.677	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf54	HGNC	protein_coding	OTTHUMT00000255158.1	0	0		41	41		0.00		C	NM_175900		29756041	-1	24		46		tier1	no_errors	ENST00000329410	ensembl	human	known	74_37	missense	34.29		SNP	1.000	T	24	46
ZEB1	6935	genome.wustl.edu	37	10	31810575	31810575	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:31810575C>T	ENST00000320985.10	+	7	2422	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F	ZEB1_ENST00000446923.2_Missense_Mutation_p.S755F|ZEB1_ENST00000560721.2_Missense_Mutation_p.S751F|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.S704F|ZEB1_ENST00000361642.5_Missense_Mutation_p.S772F			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	771					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGAACTTGTCTTGCGCAAAA	0.408													ENSG00000148516																									Ovarian(40;423 959 14296 36701 49589)												0													105.0	95.0	99.0					10																	31810575		2203	4300	6503	SO:0001583	missense	0			-	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2312C>T	10.37:g.31810575C>T	ENSP00000319248:p.Ser771Phe		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S772F	ENST00000320985.10	37	c.2315	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708241	0.68615	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12569	2.98;2.68;2.72;2.67;2.73	5.3	5.3	0.74995	.	0.358916	0.21037	N	0.081229	T	0.29817	0.0745	L	0.60455	1.87	0.54753	D	0.999985	P;P;P;P;P;P;P;P	0.51147	0.942;0.937;0.938;0.938;0.895;0.836;0.938;0.938	P;P;P;P;P;P;P;P	0.53809	0.713;0.735;0.603;0.548;0.603;0.52;0.603;0.548	T	0.01146	-1.1437	10	0.87932	D	0	-12.7468	19.3232	0.94250	0.0:1.0:0.0:0.0	.	704;771;755;771;771;751;772;771	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	F	553;771;772;704;771;751;662;755	ENSP00000444282:S553F;ENSP00000354487:S772F;ENSP00000444891:S704F;ENSP00000319248:S771F;ENSP00000391612:S755F	ENSP00000319248:S771F	S	+	2	0	ZEB1	31850581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.633000	0.89246	0.650000	0.86243	TCT	-	ZEB1	-	NULL		0.408	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	0	0		54	54		0.00		C	NM_030751		31810575	+1	26		38		tier1	no_errors	ENST00000361642	ensembl	human	known	74_37	missense	40.62		SNP	1.000	T	26	38
BMP6	654	genome.wustl.edu	37	6	7845455	7845455	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:7845455G>T	ENST00000283147.6	+	2	906	c.747G>T	c.(745-747)gaG>gaT	p.E249D		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	249					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CTGAGGGTGAGGTGGTGACGG	0.438													ENSG00000153162																																					0													125.0	123.0	124.0					6																	7845455		2203	4300	6503	SO:0001583	missense	0			-	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.747G>T	6.37:g.7845455G>T	ENSP00000283147:p.Glu249Asp		Q5TCP3	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.E249D	ENST00000283147.6	37	c.747	CCDS4503.1	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266382	0.80358	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72394	-0.65	5.41	4.55	0.56014	Transforming growth factor-beta, N-terminal (1);	0.241301	0.44285	D	0.000461	T	0.71169	0.3308	M	0.63208	1.945	0.53688	D	0.999976	P	0.49447	0.924	P	0.56088	0.791	T	0.74137	-0.3762	10	0.51188	T	0.08	.	13.8734	0.63634	0.0735:0.0:0.9265:0.0	.	249	P22004	BMP6_HUMAN	D	171;249;212	ENSP00000283147:E249D	ENSP00000283147:E249D	E	+	3	2	BMP6	7790454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.720000	0.54933	1.278000	0.44430	0.557000	0.71058	GAG	-	BMP6	-	pfam_TGF-b_N		0.438	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	HGNC	protein_coding	OTTHUMT00000039794.1	0	0		99	99		0.00		G	NM_001718		7845455	+1	26		91		tier1	no_errors	ENST00000283147	ensembl	human	known	74_37	missense	22.22		SNP	1.000	T	26	91
ZNF804B	219578	genome.wustl.edu	37	7	88964800	88964800	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:88964800C>T	ENST00000333190.4	+	4	3113	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	835							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)			TCACAGATTTCCTGTACTGGA	0.373										HNSCC(36;0.09)			ENSG00000182348																																					0													52.0	52.0	52.0					7																	88964800		2203	4295	6498	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.2504C>T	7.37:g.88964800C>T	ENSP00000329638:p.Ser835Phe		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S835F	ENST00000333190.4	37	c.2504	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	5.804	0.332674	0.10956	.	.	ENSG00000182348	ENST00000333190	T	0.06528	3.29	5.19	-0.0699	0.13750	.	1.338380	0.04724	N	0.419890	T	0.06872	0.0175	L	0.34521	1.04	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.43734	-0.9373	10	0.56958	D	0.05	0.9753	9.2857	0.37755	0.0:0.5383:0.2637:0.198	.	835	A4D1E1	Z804B_HUMAN	F	835	ENSP00000329638:S835F	ENSP00000329638:S835F	S	+	2	0	ZNF804B	88802736	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.167000	0.09940	0.075000	0.16796	0.655000	0.94253	TCC	-	ZNF804B	-	NULL		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	0	0		61	61		0.00		C	NM_181646		88964800	+1	18		48		tier1	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	27.27		SNP	0.000	T	18	48
GSTM3	2947	genome.wustl.edu	37	1	110280033	110280033	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110280033G>A	ENST00000540225.1	-	8	890				RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Intron|GSTM3_ENST00000256594.3_Intron|GSTM3_ENST00000488824.1_Intron			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)						cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	AGGTCCCAGGGGAGCCTGTGA	0.507													ENSG00000134202																																					0													22.0	24.0	23.0					1																	110280033		2203	4300	6503	SO:0001627	intron_variant	0			-	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.579+45C>T	1.37:g.110280033G>A			O60550|Q96HA3	R	SNP	-	NULL	ENST00000540225.1	37	NULL	CCDS812.1	1																																																																																			-	GSTM3	-	-		0.507	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM3	HGNC	protein_coding	OTTHUMT00000032182.1	0	0		33	33		0.00		G	NM_000849		110280033	-1	7		24		tier1	no_errors	ENST00000476321	ensembl	human	known	74_37	rna	22.58		SNP	0.000	A	7	24
ZDHHC11	79844	genome.wustl.edu	37	5	843755	843755	+	Silent	SNP	G	G	A	rs140537102	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:843755G>A	ENST00000283441.8	-	4	971	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ZDHHC11_ENST00000503758.2_5'Flank|ZDHHC11_ENST00000511539.1_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.L196L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	196						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CGGGGTTCACGAGGTACTGGA	0.642													ENSG00000188818	g|||	2	0.000399361	0.0	0.0	5008	,	,		17077	0.002		0.0	False		,,,				2504	0.0																0								G		1,4399	2.1+/-5.4	0,1,2199	79.0	61.0	67.0		588	-8.0	0.0	5	dbSNP_134	67	0,8578		0,0,4289	no	coding-synonymous	ZDHHC11	NM_024786.2		0,1,6488	AA,AG,GG		0.0,0.0227,0.0077		196/413	843755	1,12977	2200	4289	6489	SO:0001819	synonymous_variant	0			-	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.588C>T	5.37:g.843755G>A			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L196	ENST00000283441.8	37	c.588	CCDS3857.1	5																																																																																			rs140537102	ZDHHC11	-	NULL		0.642	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	0	0		256	256		0.00		G	NM_024786		843755	-1	46		347		tier1	no_errors	ENST00000283441	ensembl	human	known	74_37	silent	11.70		SNP	0.000	A	46	347
SPAG11B	10407	genome.wustl.edu	37	8	7308314	7308314	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:7308314G>A	ENST00000297498.2	-	0	565				SPAG11B_ENST00000398462.2_Missense_Mutation_p.P108L|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000458665.1_Missense_Mutation_p.P55L	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCTATTCCAGGGATCAGAGCA	0.443													ENSG00000164871																																					0													131.0	137.0	135.0					8																	7308314		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.*87C>T	8.37:g.7308314G>A			E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ	p.P108L	ENST00000297498.2	37	c.323	CCDS5966.1	8	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137473	0.56936	.	.	ENSG00000164871	ENST00000458665;ENST00000398462	T;T	0.26223	1.75;1.75	3.44	3.44	0.39384	.	.	.	.	.	T	0.35248	0.0925	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.04946	-1.0916	9	0.46703	T	0.11	-18.1555	10.7413	0.46156	0.0:0.0:1.0:0.0	.	108;55	A8MZA0;E9PFH0	.;.	L	55;108	ENSP00000398550:P55L;ENSP00000381480:P108L	ENSP00000381480:P108L	P	-	2	0	SPAG11B	7295724	0.987000	0.35691	0.994000	0.49952	0.708000	0.40852	1.962000	0.40442	2.235000	0.73313	0.454000	0.30748	CCC	-	SPAG11B	-	pfam_Defensin_beta-typ		0.443	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	SPAG11B	HGNC	protein_coding	OTTHUMT00000251390.2	0	0		72	72		0.00		G	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		7308314	-1	14		86		tier1	no_errors	ENST00000398462	ensembl	human	known	74_37	missense	14.00		SNP	0.995	A	14	86
C20orf24	55969	genome.wustl.edu	37	20	35234409	35234409	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:35234409G>A	ENST00000373852.5	+	1	190	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	TGIF2-C20orf24_ENST00000558530.1_Intron|C20orf24_ENST00000344795.3_Missense_Mutation_p.A19T|RP5-977B1.11_ENST00000561134.1_RNA|C20orf24_ENST00000342422.3_Missense_Mutation_p.A19T			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	19				LANGALKVSVWSKVLRSDA -> PWANGASKSPSGVRCCGR R (in Ref. 6; AAB50849). {ECO:0000305}.						breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCCAACGGGGCCCTCAAAGT	0.736													ENSG00000101084																																					0													15.0	15.0	15.0					20																	35234409		1925	3716	5641	SO:0001583	missense	0			-	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.55G>A	20.37:g.35234409G>A	ENSP00000362958:p.Ala19Thr		E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	NULL	p.A19T	ENST00000373852.5	37	c.55	CCDS56190.1	20	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753015	0.49362	.	.	ENSG00000101084	ENST00000344795;ENST00000373852;ENST00000342422	.	.	.	5.37	5.37	0.77165	.	0.058865	0.64402	D	0.000004	T	0.52273	0.1724	.	.	.	0.22771	N	0.998752	B;D;B;B	0.69078	0.011;0.997;0.004;0.024	B;P;B;B	0.60789	0.003;0.879;0.005;0.006	T	0.46512	-0.9186	8	0.36615	T	0.2	-18.48	10.4308	0.44407	0.089:0.0:0.911:0.0	.	19;19;19;19	Q9BUV8;Q5QPG6;Q9BUV8-2;Q9BUV8-3	CT024_HUMAN;.;.;.	T	19	.	ENSP00000341213:A19T	A	+	1	0	C20orf24	34667823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.335000	0.79234	2.677000	0.91161	0.561000	0.74099	GCC	-	C20orf24	-	NULL		0.736	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	HGNC	protein_coding	OTTHUMT00000079006.1	0	0		58	58		0.00		G	NM_018840		35234409	+1	45		66		tier1	no_errors	ENST00000373852	ensembl	human	known	74_37	missense	40.54		SNP	1.000	A	45	66
ARAP2	116984	genome.wustl.edu	37	4	36134863	36134863	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:36134863A>T	ENST00000303965.4	-	20	3901	c.3412T>A	c.(3412-3414)Ttt>Att	p.F1138I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1138	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTGTAACAAATGCTATACAG	0.373													ENSG00000047365																																					0													133.0	115.0	121.0					4																	36134863		2201	4299	6500	SO:0001583	missense	0			-	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3412T>A	4.37:g.36134863A>T	ENSP00000302895:p.Phe1138Ile		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.F1138I	ENST00000303965.4	37	c.3412	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	A	29.0	4.969460	0.92855	.	.	ENSG00000047365	ENST00000303965	T	0.22539	1.95	5.81	5.81	0.92471	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	L	0.48218	1.51	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.22977	-1.0201	10	0.87932	D	0	.	16.1667	0.81768	1.0:0.0:0.0:0.0	.	1138	Q8WZ64	ARAP2_HUMAN	I	1138	ENSP00000302895:F1138I	ENSP00000302895:F1138I	F	-	1	0	ARAP2	35811258	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.923000	0.92808	2.210000	0.71456	0.533000	0.62120	TTT	-	ARAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.373	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	0	0		56	56		0.00		A	NM_015230		36134863	-1	29		64		tier1	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	31.18		SNP	1.000	T	29	64
DMGDH	29958	genome.wustl.edu	37	5	78340285	78340285	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:78340285G>A	ENST00000255189.3	-	6	864	c.836C>T	c.(835-837)tCt>tTt	p.S279F	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.S78F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	279			S -> P (in dbSNP:rs532964). {ECO:0000269|PubMed:10767172, ECO:0000269|PubMed:14702039}.		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)		TTTCACTTCAGATATAGTCGA	0.413													ENSG00000132837																																					0													118.0	106.0	110.0					5																	78340285		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.836C>T	5.37:g.78340285G>A	ENSP00000255189:p.Ser279Phe		B2RBN0|B4E1J9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.S279F	ENST00000255189.3	37	c.836	CCDS4044.1	5	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485939	0.63962	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	T;T;T	0.31247	1.5;1.5;1.5	5.29	5.29	0.74685	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	L	0.27053	0.805	0.80722	D	1	B;B;B	0.29341	0.092;0.204;0.242	B;B;B	0.37508	0.04;0.246;0.252	T	0.19943	-1.0290	10	0.87932	D	0	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	78;129;279	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	F	279;118;78;129	ENSP00000255189:S279F;ENSP00000430972:S118F;ENSP00000369667:S78F	ENSP00000255189:S279F	S	-	2	0	DMGDH	78376041	1.000000	0.71417	0.579000	0.28588	0.798000	0.45092	9.658000	0.98594	2.641000	0.89580	0.650000	0.86243	TCT	-	DMGDH	-	pfam_FAD-dep_OxRdtase		0.413	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	HGNC	protein_coding	OTTHUMT00000226963.3	0	0		88	88		0.00		G	NM_013391		78340285	-1	26		68		tier1	no_errors	ENST00000255189	ensembl	human	known	74_37	missense	27.66		SNP	1.000	A	26	68
FAM184B	27146	genome.wustl.edu	37	4	17666185	17666185	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:17666185C>T	ENST00000265018.3	-	8	1906	c.1694G>A	c.(1693-1695)aGg>aAg	p.R565K		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	565										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						CCTCCTGTACCTTTCTTCTTC	0.438													ENSG00000047662																																					0													342.0	278.0	297.0					4																	17666185		692	1591	2283	SO:0001630	splice_region_variant	0			-		CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.1694+1G>A	4.37:g.17666185C>T				Missense_Mutation	SNP	NULL	p.R565K	ENST00000265018.3	37	c.1694	CCDS47033.1	4	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554750	0.45487	.	.	ENSG00000047662	ENST00000265018	T	0.36340	1.26	4.84	4.84	0.62591	.	0.184018	0.26345	N	0.024906	T	0.31702	0.0805	L	0.48362	1.52	0.28517	N	0.91325	B	0.02656	0.0	B	0.04013	0.001	T	0.10941	-1.0608	9	.	.	.	-12.3186	13.8558	0.63527	0.0:1.0:0.0:0.0	.	565	Q9ULE4	F184B_HUMAN	K	565	ENSP00000265018:R565K	.	R	-	2	0	FAM184B	17275283	1.000000	0.71417	0.993000	0.49108	0.834000	0.47266	3.248000	0.51430	2.401000	0.81631	0.558000	0.71614	AGG	-	FAM184B	-	NULL		0.438	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	0	0		30	30		0.00		C	NM_015688	Missense_Mutation	17666185	-1	17		35		tier1	no_errors	ENST00000265018	ensembl	human	known	74_37	missense	32.69		SNP	1.000	T	17	35
MROH7	374977	genome.wustl.edu	37	1	55136211	55136211	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55136211C>T	ENST00000421030.2	+	6	1716	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	MROH7_ENST00000339553.5_Silent_p.S477S|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000395690.2_Silent_p.S477S|MROH7_ENST00000409996.1_Silent_p.S45S|MROH7_ENST00000545244.1_Silent_p.S45S|MROH7-TTC4_ENST00000414150.2_Silent_p.S477S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	477						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCTCAAGCTCCGTCCGCAAGC	0.637													ENSG00000271723																																					0													40.0	46.0	44.0					1																	55136211		2049	4173	6222	SO:0001819	synonymous_variant	0			-	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1431C>T	1.37:g.55136211C>T			A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	superfamily_ARM-type_fold	p.S477	ENST00000421030.2	37	c.1431	CCDS41342.2	1																																																																																			-	MROH7-TTC4	-	superfamily_ARM-type_fold		0.637	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1	0	0		55	55		0.00		C	NM_198547		55136211	+1	33		74		tier1	no_errors	ENST00000414150	ensembl	human	known	74_37	silent	30.84		SNP	0.001	T	33	74
PTER	9317	genome.wustl.edu	37	10	16526508	16526508	+	Missense_Mutation	SNP	C	C	T	rs141767754	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:16526508C>T	ENST00000378000.1	+	3	371	c.125C>T	c.(124-126)cCg>cTg	p.P42L	PTER_ENST00000423462.2_Missense_Mutation_p.P42L|PTER_ENST00000535784.2_Missense_Mutation_p.P42L|PTER_ENST00000298942.3_Missense_Mutation_p.P42L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	42					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CCACCTCCCCCGTGCCAGGAA	0.453													ENSG00000165983																									Ovarian(2;46 150 15648 38137 47908)												0								C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	92.0	90.0	91.0		125,125	5.2	0.1	10	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTER	NM_001001484.1,NM_030664.3	98,98	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	42/350,42/350	16526508	2,13004	2203	4300	6503	SO:0001583	missense	0			-	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.125C>T	10.37:g.16526508C>T	ENSP00000367239:p.Pro42Leu		B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_family	p.P42L	ENST00000378000.1	37	c.125	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699470	0.30142	2.27E-4	1.16E-4	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	6.08	5.18	0.71444	.	0.325348	0.36374	N	0.002636	T	0.46444	0.1393	M	0.83012	2.62	0.46654	D	0.99914	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.005	T	0.48570	-0.9024	10	0.11182	T	0.66	-3.7147	15.6829	0.77385	0.0:0.9345:0.0:0.0655	.	42;42	Q96BW5-2;Q96BW5	.;PTER_HUMAN	L	42	ENSP00000439485:P42L;ENSP00000389535:P42L;ENSP00000367239:P42L;ENSP00000298942:P42L	ENSP00000298942:P42L	P	+	2	0	PTER	16566514	0.049000	0.20398	0.083000	0.20561	0.127000	0.20565	3.368000	0.52357	1.590000	0.49995	0.655000	0.94253	CCG	rs141767754	PTER	-	pfam_Aryldialkylphosphatase		0.453	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	0	0		75	75		0.00		C	NM_030664		16526508	+1	25		66		tier1	no_errors	ENST00000298942	ensembl	human	known	74_37	missense	27.47		SNP	0.392	T	25	66
CACNA2D3	55799	genome.wustl.edu	37	3	54604049	54604049	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:54604049G>A	ENST00000474759.1	+	8	854	c.806G>A	c.(805-807)gGa>gAa	p.G269E	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G175E|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G269E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G269E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	269	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AGCATGAAAGGACTCCGTCTG	0.433													ENSG00000157445																																					0													170.0	164.0	166.0					3																	54604049		2008	4179	6187	SO:0001583	missense	0			-	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.806G>A	3.37:g.54604049G>A	ENSP00000419101:p.Gly269Glu		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G269E	ENST00000474759.1	37	c.806	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018309	0.93404	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.4	5.4	0.78164	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.83603	2.65	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.34750	-0.9816	10	0.54805	T	0.06	.	19.5514	0.95322	0.0:0.0:1.0:0.0	.	269	Q8IZS8	CA2D3_HUMAN	E	269;269;269;175;175;174	ENSP00000389506:G269E;ENSP00000419101:G269E;ENSP00000288197:G269E;ENSP00000417279:G175E	ENSP00000288197:G269E	G	+	2	0	CACNA2D3	54579089	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.751000	0.98889	2.705000	0.92388	0.650000	0.86243	GGA	-	CAC2D3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.433	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAC2D3	HGNC	protein_coding	OTTHUMT00000351402.1	0	0		53	53		0.00		G			54604049	+1	32		45		tier1	no_errors	ENST00000288197	ensembl	human	known	74_37	missense	41.56		SNP	1.000	A	32	45
EGFR	1956	genome.wustl.edu	37	7	55242452	55242452	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:55242452C>T	ENST00000275493.2	+	19	2399	c.2222C>T	c.(2221-2223)cCc>cTc	p.P741L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.P696L|EGFR_ENST00000454757.2_Missense_Mutation_p.P688L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P741L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTTAAAATTCCCGTCGCTATC	0.483		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			ENSG00000146648																											yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	3	Substitution - Missense(3)	central_nervous_system(2)|skin(1)											107.0	105.0	105.0					7																	55242452		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	-		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2222C>T	7.37:g.55242452C>T	ENSP00000275493:p.Pro741Leu		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	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.P741L	ENST00000275493.2	37	c.2222	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034482	0.93575	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82433	-1.61;-1.61;-1.61	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87881	0.6289	L	0.35644	1.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.936;1.0	D	0.88767	0.3261	10	0.87932	D	0	.	18.3264	0.90255	0.0:1.0:0.0:0.0	.	696;741	Q504U8;P00533	.;EGFR_HUMAN	L	696;611;741;688	ENSP00000415559:P696L;ENSP00000275493:P741L;ENSP00000395243:P688L	ENSP00000275493:P741L	P	+	2	0	EGFR	55209946	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	5.888000	0.69758	2.676000	0.91093	0.561000	0.74099	CCC	-	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.483	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	0	0		65	65		0.00		C	NM_005228		55242452	+1	34		40		tier1	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	45.95		SNP	1.000	T	34	40
OR6C1	390321	genome.wustl.edu	37	12	55715280	55715280	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55715280C>A	ENST00000379668.2	+	1	935	c.897C>A	c.(895-897)ttC>ttA	p.F299L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCAAGCTTTCATTAACATGG	0.413													ENSG00000205330																																					0													128.0	124.0	126.0					12																	55715280		2203	4300	6503	SO:0001583	missense	0			-	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.897C>A	12.37:g.55715280C>A	ENSP00000368990:p.Phe299Leu		B2RNM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F299L	ENST00000379668.2	37	c.897	CCDS31818.1	12	.	.	.	.	.	.	.	.	.	.	c	7.762	0.705566	0.15172	.	.	ENSG00000205330	ENST00000379668	T	0.34072	1.38	5.34	0.108	0.14548	.	0.303944	0.28589	N	0.014801	T	0.11495	0.0280	N	0.02120	-0.675	0.19775	N	0.999954	B	0.14012	0.009	B	0.17979	0.02	T	0.15665	-1.0429	10	0.44086	T	0.13	.	3.6144	0.08071	0.1772:0.3555:0.0:0.4673	.	299	Q96RD1	OR6C1_HUMAN	L	299	ENSP00000368990:F299L	ENSP00000368990:F299L	F	+	3	2	OR6C1	54001547	0.000000	0.05858	0.291000	0.24904	0.297000	0.27493	-1.337000	0.02657	0.107000	0.17824	-0.738000	0.03535	TTC	-	OR6C1	-	NULL		0.413	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	0	0		58	58		0.00		C	NM_001005182		55715280	+1	37		31		tier1	no_errors	ENST00000379668	ensembl	human	known	74_37	missense	54.41		SNP	0.160	A	37	31
RLN2	6019	genome.wustl.edu	37	9	5300362	5300362	+	Silent	SNP	C	C	T	rs555680741		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:5300362C>T	ENST00000381627.3	-	2	682	c.294G>A	c.(292-294)ctG>ctA	p.L98L	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	98					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		GGGTTAACTTCAGCTCCTGTG	0.348													ENSG00000107014																																					0													113.0	115.0	114.0					9																	5300362		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.294G>A	9.37:g.5300362C>T			A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.L98	ENST00000381627.3	37	c.294	CCDS6460.1	9																																																																																			-	RLN2	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin		0.348	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN2	HGNC	protein_coding	OTTHUMT00000051619.1	0	0		37	37		0.00		C	NM_134441		5300362	-1	17		12		tier1	no_errors	ENST00000381627	ensembl	human	known	74_37	silent	58.62		SNP	0.003	T	17	12
ANGPTL2	23452	genome.wustl.edu	37	9	129854204	129854204	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:129854204T>C	ENST00000373425.3	-	4	1644	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V	RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.I41V|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	343	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TCGCCGTCAATGTTCCCAAAC	0.567													ENSG00000136859																																					0													195.0	188.0	190.0					9																	129854204		2203	4300	6503	SO:0001583	missense	0			-	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1027A>G	9.37:g.129854204T>C	ENSP00000362524:p.Ile343Val		Q5JT58|Q8NCH7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.I343V	ENST00000373425.3	37	c.1027	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	T	11.00	1.511614	0.27036	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	T;T	0.76448	-1.02;-1.02	5.2	5.2	0.72013	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	N	0.16743	0.435	0.80722	D	1	B	0.21225	0.053	B	0.35607	0.206	T	0.63359	-0.6655	10	0.21014	T	0.42	.	15.3682	0.74541	0.0:0.0:0.0:1.0	.	343	Q9UKU9	ANGL2_HUMAN	V	343;41	ENSP00000362524:I343V;ENSP00000362516:I41V	ENSP00000362516:I41V	I	-	1	0	ANGPTL2	128894025	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	7.997000	0.88414	2.082000	0.62665	0.533000	0.62120	ATT	-	ANGPTL2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.567	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	0	0		52	52		0.00		T	NM_012098		129854204	-1	24		44		tier1	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	35.29		SNP	1.000	C	24	44
C4BPA	722	genome.wustl.edu	37	1	207317960	207317960	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:207317960T>C	ENST00000367070.3	+	12	1886	c.1692T>C	c.(1690-1692)gaT>gaC	p.D564D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	564					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACCCAGAGGATGTGAAAATGG	0.458													ENSG00000123838																																					0													59.0	58.0	59.0					1																	207317960		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1692T>C	1.37:g.207317960T>C			Q5VVQ8	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D564	ENST00000367070.3	37	c.1692	CCDS1477.1	1																																																																																			-	C4BPA	-	NULL		0.458	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	0	0		66	66		0.00		T			207317960	+1	15		117		tier1	no_errors	ENST00000367070	ensembl	human	known	74_37	silent	11.36		SNP	0.056	C	15	117
PPP1R15A	23645	genome.wustl.edu	37	19	49376799	49376799	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49376799C>T	ENST00000200453.5	+	2	578	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	103					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-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;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCAGCAGTTCCCTTCCTGAAG	0.562													ENSG00000087074																																					0													135.0	119.0	125.0					19																	49376799		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.309C>T	19.37:g.49376799C>T			B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	pfam_Prot_Pase1_reg-su15A/B_C	p.S103	ENST00000200453.5	37	c.309	CCDS12738.1	19																																																																																			-	PPP1R15A	-	NULL		0.562	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	HGNC	protein_coding	OTTHUMT00000466226.1	0	0		71	71		0.00		C	NM_014330		49376799	+1	41		38		tier1	no_errors	ENST00000200453	ensembl	human	known	74_37	silent	51.90		SNP	0.001	T	41	38
TBC1D13	54662	genome.wustl.edu	37	9	131554812	131554812	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:131554812C>T	ENST00000372648.5	+	6	492	c.342C>T	c.(340-342)ttC>ttT	p.F114F	TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Silent_p.F114F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	114	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACACGTACTTCAAGGACAACG	0.627													ENSG00000107021																																					0													96.0	71.0	80.0					9																	131554812		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.342C>T	9.37:g.131554812C>T			A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F114	ENST00000372648.5	37	c.342	CCDS6911.1	9																																																																																			-	TBC1D13	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.627	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	HGNC	protein_coding	OTTHUMT00000054496.1	0	0		55	55		0.00		C	NM_018201		131554812	+1	17		57		tier1	no_errors	ENST00000372648	ensembl	human	known	74_37	silent	22.97		SNP	1.000	T	17	57
DDX21	9188	genome.wustl.edu	37	10	70719689	70719689	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:70719689C>T	ENST00000354185.4	+	2	313	c.215C>T	c.(214-216)cCt>cTt	p.P72L		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	72					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGAATTCTCCTAAATCCAAA	0.358													ENSG00000165732																																					0													47.0	50.0	49.0					10																	70719689		2203	4300	6503	SO:0001583	missense	0			-	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.215C>T	10.37:g.70719689C>T	ENSP00000346120:p.Pro72Leu		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_GUCT,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.P72L	ENST00000354185.4	37	c.215	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472057	0.26423	.	.	ENSG00000165732	ENST00000354185;ENST00000541642	T	0.24538	1.85	5.76	3.68	0.42216	.	1.914650	0.01979	N	0.044670	T	0.23649	0.0572	L	0.29908	0.895	0.46317	D	0.998982	B	0.06786	0.001	B	0.06405	0.002	T	0.10800	-1.0614	10	0.56958	D	0.05	-22.1039	7.6551	0.28371	0.0:0.7751:0.0:0.2249	.	72	Q9NR30	DDX21_HUMAN	L	72	ENSP00000346120:P72L	ENSP00000346120:P72L	P	+	2	0	DDX21	70389695	0.917000	0.31117	0.992000	0.48379	0.229000	0.25112	1.540000	0.36115	0.706000	0.31912	0.650000	0.86243	CCT	-	DDX21	-	NULL		0.358	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	0	0		56	56		0.00		C	NM_004728		70719689	+1	8		43		tier1	no_errors	ENST00000354185	ensembl	human	known	74_37	missense	15.69		SNP	1.000	T	8	43
R3HDM1	23518	genome.wustl.edu	37	2	136418864	136418864	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:136418864G>A	ENST00000264160.4	+	18	2318	c.1948G>A	c.(1948-1950)Ggc>Agc	p.G650S	R3HDM1_ENST00000410054.1_Missense_Mutation_p.G595S|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G522S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.G521S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G651S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	650							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTGCGCTCCAGGCCACTATCA	0.448													ENSG00000048991																																					0													151.0	132.0	138.0					2																	136418864		2203	4300	6503	SO:0001583	missense	0			-	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1948G>A	2.37:g.136418864G>A	ENSP00000264160:p.Gly650Ser		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G650S	ENST00000264160.4	37	c.1948	CCDS2177.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.864891|2.864891	0.51482|0.51482	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703	T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66|.	5.65|5.65	3.78|3.78	0.43462|0.43462	.|.	0.451023|.	0.24879|.	N|.	0.034873|.	T|T	0.58878|0.58878	0.2153|0.2153	M|M	0.72118|0.72118	2.19|2.19	0.31827|0.31827	N|N	0.625257|0.625257	B;B;B;B|.	0.26845|.	0.161;0.065;0.051;0.051|.	B;B;B;B|.	0.28638|.	0.092;0.01;0.012;0.007|.	T|T	0.63444|0.63444	-0.6636|-0.6636	10|5	0.35671|.	T|.	0.21|.	-2.0174|-2.0174	8.6558|8.6558	0.34062|0.34062	0.3147:0.0:0.6853:0.0|0.3147:0.0:0.6853:0.0	.|.	522;651;595;650|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	S|K	522;650;521;595;651|373	ENSP00000386457:G522S;ENSP00000264160:G650S;ENSP00000331396:G521S;ENSP00000386877:G595S;ENSP00000387010:G651S|.	ENSP00000264160:G650S|.	G|R	+|+	1|2	0|0	R3HDM1|R3HDM1	136135334|136135334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	1.425000|1.425000	0.34859|0.34859	0.654000|0.654000	0.30846|0.30846	0.557000|0.557000	0.71058|0.71058	GGC|AGG	-	R3HDM1	-	NULL		0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	0	0		65	65		0.00		G	NM_015361		136418864	+1	23		49		tier1	no_errors	ENST00000264160	ensembl	human	known	74_37	missense	31.94		SNP	1.000	A	23	49
GLIS3	169792	genome.wustl.edu	37	9	3828338	3828338	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:3828338G>A	ENST00000324333.10	-	10	2455	c.2262C>T	c.(2260-2262)acC>acT	p.T754T	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.T909T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	754					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCTGCAAGAAGGTAGCATCTT	0.542													ENSG00000107249																																					0													64.0	62.0	62.0					9																	3828338		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2262C>T	9.37:g.3828338G>A			B1AL19|Q1PHK5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T909	ENST00000324333.10	37	c.2727	CCDS6451.1	9																																																																																			-	GLIS3	-	NULL		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1	0	0		59	59		0.00		G	NM_152629		3828338	-1	30		34		tier1	no_errors	ENST00000381971	ensembl	human	known	74_37	silent	46.88		SNP	0.005	A	30	34
CDH9	1007	genome.wustl.edu	37	5	26903850	26903850	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:26903850C>T	ENST00000231021.4	-	6	1067	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTGCATTTTCCCCCACGTCA	0.408													ENSG00000113100																									Melanoma(8;187 585 15745 40864 52829)												0													251.0	218.0	229.0					5																	26903850		2203	4299	6502	SO:0001583	missense	0			-	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.895G>A	5.37:g.26903850C>T	ENSP00000231021:p.Glu299Lys		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E299K	ENST00000231021.4	37	c.895	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	6.976	0.550016	0.13374	.	.	ENSG00000113100	ENST00000231021	T	0.51574	0.7	5.74	0.947	0.19555	Cadherin (4);Cadherin-like (1);	0.689341	0.15199	N	0.275143	T	0.25306	0.0615	N	0.17248	0.465	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.16394	-1.0404	9	.	.	.	.	5.5637	0.17158	0.0:0.514:0.1308:0.3552	.	299	Q9ULB4	CADH9_HUMAN	K	299	ENSP00000231021:E299K	.	E	-	1	0	CDH9	26939607	0.191000	0.23288	0.968000	0.41197	0.232000	0.25224	1.021000	0.30040	0.165000	0.19558	-1.754000	0.00674	GAA	-	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	0	0		69	69		0.00		C	NM_016279		26903850	-1	17		44		tier1	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	27.87		SNP	0.022	T	17	44
FFAR1	2864	genome.wustl.edu	37	19	35843211	35843211	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:35843211C>T	ENST00000246553.2	+	1	767	c.757C>T	c.(757-759)Cta>Tta	p.L253L		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	253					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GTACCCCAATCTAGGAGGCTC	0.662													ENSG00000126266																																					0													14.0	10.0	11.0					19																	35843211		2128	4196	6324	SO:0001819	synonymous_variant	0			-	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.757C>T	19.37:g.35843211C>T			Q0VAS2|Q4VBL4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA,prints_GPR40-rel_orph,prints_GPCR_Rhodpsn	p.L253	ENST00000246553.2	37	c.757	CCDS12458.1	19																																																																																			-	FFAR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.662	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR1	HGNC	protein_coding	OTTHUMT00000466112.2	0	0		42	42		0.00		C	NM_005303		35843211	+1	17		28		tier1	no_errors	ENST00000246553	ensembl	human	known	74_37	silent	37.78		SNP	0.000	T	17	28
HYDIN	54768	genome.wustl.edu	37	16	70942261	70942261	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:70942261C>T	ENST00000393567.2	-	49	8440	c.8290G>A	c.(8290-8292)Ggg>Agg	p.G2764R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2764					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)				TCAAAGTTCCCGAACTCATCA	0.488													ENSG00000157423																																					0													11.0	10.0	10.0					16																	70942261		1777	4015	5792	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.8290G>A	16.37:g.70942261C>T	ENSP00000377197:p.Gly2764Arg		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.G2764R	ENST00000393567.2	37	c.8290	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199005	0.58126	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.32515	1.45	5.39	4.45	0.53987	.	0.000000	0.33553	U	0.004784	T	0.57257	0.2041	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63883	-0.6536	10	0.87932	D	0	.	13.8149	0.63285	0.0:0.9253:0.0:0.0747	.	2763	F8WD23	.	R	2764;2763	ENSP00000377197:G2764R	ENSP00000313052:G2763R	G	-	1	0	HYDIN	69499762	1.000000	0.71417	0.156000	0.22583	0.035000	0.12851	5.850000	0.69473	1.296000	0.44742	0.603000	0.83216	GGG	-	HYDIN	-	NULL		0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	0	0		56	56		0.00		C			70942261	-1	35		32		tier1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	52.24		SNP	0.972	T	35	32
SH3D21	79729	genome.wustl.edu	37	1	36784742	36784742	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36784742C>T	ENST00000426732.2	+	10	777	c.492C>T	c.(490-492)gcC>gcT	p.A164A	SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000453908.2_Silent_p.A280A|SH3D21_ENST00000505871.1_Silent_p.A169A			A4FU49	SH321_HUMAN	SH3 domain containing 21	164						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						TAGCAACAGCCACCACTGGGC	0.577													ENSG00000214193																																					0													53.0	51.0	51.0					1																	36784742		692	1591	2283	SO:0001819	synonymous_variant	0			-	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.492C>T	1.37:g.36784742C>T			B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.A280	ENST00000426732.2	37	c.840		1																																																																																			-	SH3D21	-	NULL		0.577	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		0	0		50	50		0.00		C	NM_024676		36784742	+1	12		45		tier1	no_errors	ENST00000453908	ensembl	human	known	74_37	silent	21.05		SNP	0.001	T	12	45
PHLDB1	23187	genome.wustl.edu	37	11	118499010	118499010	+	Silent	SNP	C	C	A	rs267602717		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118499010C>A	ENST00000361417.2	+	7	1882	c.1471C>A	c.(1471-1473)Cgg>Agg	p.R491R	PHLDB1_ENST00000356063.5_Silent_p.R491R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	491										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGAGAGTCCTCGGCCCCGGCG	0.682													ENSG00000019144																																					0													31.0	39.0	36.0					11																	118499010		2200	4294	6494	SO:0001819	synonymous_variant	0			-		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1471C>A	11.37:g.118499010C>A			B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R491	ENST00000361417.2	37	c.1471	CCDS8401.1	11																																																																																			-	PHLDB1	-	NULL		0.682	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	0	0		72	72		0.00		C	NM_015157		118499010	+1	39		72		tier1	no_errors	ENST00000361417	ensembl	human	known	74_37	silent	35.14		SNP	0.700	A	39	72
LILRB2	10288	genome.wustl.edu	37	19	54783672	54783672	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:54783672C>A	ENST00000391749.4	-	4	600	c.329G>T	c.(328-330)aGt>aTt	p.S110I	LILRB2_ENST00000391748.1_Missense_Mutation_p.S110I|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000314446.5_Missense_Mutation_p.S110I|LILRB2_ENST00000434421.1_5'UTR|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391746.1_Missense_Mutation_p.S110I	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	110	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGGGTCACTGAGCTCAGA	0.602													ENSG00000131042																																					0													103.0	102.0	102.0					19																	54783672		2203	4300	6503	SO:0001583	missense	0			-	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.329G>T	19.37:g.54783672C>A	ENSP00000375629:p.Ser110Ile		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S110I	ENST00000391749.4	37	c.329	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202560	0.38905	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	2.41	1.28	0.21552	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.091678	0.48286	D	0.000199	T	0.56863	0.2014	H	0.98525	4.255	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	0.59820	-0.7382	10	0.87932	D	0	.	6.7531	0.23497	0.2805:0.7195:0.0:0.0	.	110;127;110	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	I	110	ENSP00000375628:S110I;ENSP00000319960:S110I;ENSP00000375629:S110I;ENSP00000375626:S110I	ENSP00000319960:S110I	S	-	2	0	LILRB2	59475484	0.034000	0.19679	0.320000	0.25306	0.015000	0.08874	0.997000	0.29731	0.304000	0.22809	0.289000	0.19496	AGT	-	LILRB2	-	smart_Ig_sub,pfscan_Ig-like_dom		0.602	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	0	0		49	49		0.00		C			54783672	-1	25		57		tier1	no_errors	ENST00000391749	ensembl	human	known	74_37	missense	30.49		SNP	0.873	A	25	57
OR4C46	119749	genome.wustl.edu	37	11	51515577	51515577	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:51515577T>A	ENST00000328188.1	+	1	296	c.296T>A	c.(295-297)gTc>gAc	p.V99D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGACTCAAGTCTTTGGAGAA	0.453													ENSG00000185926																																					0													150.0	141.0	144.0					11																	51515577		2201	4296	6497	SO:0001583	missense	0			-		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.296T>A	11.37:g.51515577T>A	ENSP00000329056:p.Val99Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V99D	ENST00000328188.1	37	c.296	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	8.602	0.887139	0.17540	.	.	ENSG00000185926	ENST00000328188	T	0.02916	4.11	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.794830	0.10568	N	0.659431	T	0.10423	0.0255	M	0.86651	2.83	0.09310	N	1	P	0.45634	0.863	P	0.49192	0.602	T	0.09015	-1.0694	10	0.87932	D	0	.	8.8424	0.35151	0.0:0.0:0.0:1.0	.	99	A6NHA9	O4C46_HUMAN	D	99	ENSP00000329056:V99D	ENSP00000329056:V99D	V	+	2	0	OR4C46	51372153	0.039000	0.19947	0.004000	0.12327	0.056000	0.15407	2.550000	0.45811	1.239000	0.43787	0.113000	0.15668	GTC	-	OR4C46	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.453	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	0	0		52	52		0.00		T	NM_001004703		51515577	+1	34		65		tier1	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	34.34		SNP	0.005	A	34	65
OR2A7	401427	genome.wustl.edu	37	7	143956673	143956673	+	Missense_Mutation	SNP	G	G	A	rs549494166		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:143956673G>A	ENST00000493325.1	-	1	142	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P17S(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGGCCAACGGGAAATCCCAGT	0.493													ENSG00000243896	g|||	1	0.000199681	0.0	0.0	5008	,	,		31950	0.0		0.001	False		,,,				2504	0.0																2	Substitution - Missense(2)	lung(2)											102.0	132.0	122.0					7																	143956673		2202	4298	6500	SO:0001583	missense	0			-		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.49C>T	7.37:g.143956673G>A	ENSP00000420502:p.Pro17Ser		B2RN57|Q6IFP4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.P17S	ENST00000493325.1	37	c.49	CCDS55177.1	7	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.548112	0.00140	.	.	ENSG00000243896	ENST00000493325	T	0.00421	7.46	3.21	3.21	0.36854	.	.	.	.	.	T	0.00109	0.0003	N	0.00823	-1.155	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29150	-1.0021	9	0.02654	T	1	.	6.4366	0.21827	0.133:0.0:0.867:0.0	.	17	Q96R45	OR2A7_HUMAN	S	17	ENSP00000420502:P17S	ENSP00000420502:P17S	P	-	1	0	OR2A7	143587606	0.000000	0.05858	0.733000	0.30861	0.056000	0.15407	0.027000	0.13621	2.082000	0.62665	0.404000	0.27445	CCC	-	OR2A7	-	NULL		0.493	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A7	HGNC	protein_coding	OTTHUMT00000349979.1	0	0		354	354		0.00		G			143956673	-1	74		413		tier1	no_errors	ENST00000493325	ensembl	human	known	74_37	missense	15.20		SNP	0.247	A	74	413
CAMKV	79012	genome.wustl.edu	37	3	49898674	49898674	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49898674G>A	ENST00000477224.1	-	6	979	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CAMKV_ENST00000463537.1_Silent_p.F167F|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000466940.1_Silent_p.F124F|CAMKV_ENST00000467248.1_Silent_p.F92F|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000488336.1_Silent_p.F167F|CAMKV_ENST00000296471.7_Silent_p.F167F			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAGCCAGATGGAAGTCACTGA	0.552													ENSG00000164076																																					0													81.0	75.0	77.0					3																	49898674		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.501C>T	3.37:g.49898674G>A			A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	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.F167	ENST00000477224.1	37	c.501	CCDS33762.1	3																																																																																			-	CAMKV	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.552	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKV	HGNC	protein_coding	OTTHUMT00000350584.4	0	0		84	84		0.00		G	NM_024046		49898674	-1	30		73		tier1	no_errors	ENST00000477224	ensembl	human	known	74_37	silent	29.13		SNP	1.000	A	30	73
MRC1	4360	genome.wustl.edu	37	10	17921739	17921739	+	Missense_Mutation	SNP	G	G	A	rs372586729		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:17921739G>A	ENST00000331429.2	+	19	2728	c.2625G>A	c.(2623-2625)atG>atA	p.M875I																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGTTGGATGGATGGAAGCA	0.438													ENSG00000183748																																					0								G		11,4035		1,9,2013	10.0	9.0	9.0			3.0	1.0	10		9	0,8080		0,0,4040	no	intergenic				1,9,6053	AA,AG,GG		0.0,0.2719,0.0907			17921739	11,12115	2023	4040	6063	SO:0001583	missense	0			-																												ENST00000331429.2:c.2625G>A	10.37:g.17921739G>A	ENSP00000332124:p.Met875Ile			Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.M875I	ENST00000331429.2	37	c.2625		10	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120955	0.37436	0.002719	0.0	ENSG00000183748	ENST00000331429	T	0.15017	2.46	3.85	2.95	0.34219	.	0.000000	0.64402	D	0.000001	T	0.09818	0.0241	.	.	.	0.28103	N	0.931334	B	0.24186	0.099	B	0.30646	0.118	T	0.23583	-1.0184	8	0.08381	T	0.77	-15.3276	10.2968	0.43629	0.1004:0.0:0.8996:0.0	.	875	B9EJA8	.	I	875	ENSP00000332124:M875I	ENSP00000332124:M875I	M	+	3	0	AL928580.1	17961745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.336000	0.52113	0.827000	0.34685	0.508000	0.49915	ATG	-	MRC1L1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.438	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	101928757	Clone_based_vega_gene	protein_coding	OTTHUMT00000047054.1	0	0		23	23		0.00		G			17921739	+1	15		9		tier1	no_errors	ENST00000331429	ensembl	human	novel	74_37	missense	62.50		SNP	1.000	A	15	9
RYR1	6261	genome.wustl.edu	37	19	39034458	39034458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39034458G>A	ENST00000359596.3	+	87	11955	c.11955G>A	c.(11953-11955)tgG>tgA	p.W3985*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.W3980*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.W3980*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3985					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCGCCTATGGGACGCAGTGG	0.647													ENSG00000196218																																					0													83.0	71.0	75.0					19																	39034458		2203	4300	6503	SO:0001587	stop_gained	0			-	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11955G>A	19.37:g.39034458G>A	ENSP00000352608:p.Trp3985*		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.W3985*	ENST00000359596.3	37	c.11955	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	54	22.437331	0.99948	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.31	4.31	0.51392	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5582	0.84512	0.0:0.0:1.0:0.0	.	.	.	.	X	3985;3980;3980	.	ENSP00000347667:W3980X	W	+	3	0	RYR1	43726298	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.376000	0.97181	2.244000	0.73946	0.491000	0.48974	TGG	-	RYR1	-	pfam_RIH_assoc-dom		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	0	0		25	25		0.00		G			39034458	+1	7		20		tier1	no_errors	ENST00000359596	ensembl	human	known	74_37	nonsense	25.93		SNP	1.000	A	7	20
RYR2	6262	genome.wustl.edu	37	1	237955546	237955546	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237955546G>A	ENST00000366574.2	+	94	14022	c.13705G>A	c.(13705-13707)Gag>Aag	p.E4569K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4553K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4575K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4569					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)			CGGCTACATGGAGCCCACGTT	0.458													ENSG00000198626																																					0													71.0	77.0	75.0					1																	237955546		2085	4215	6300	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.13705G>A	1.37:g.237955546G>A	ENSP00000355533:p.Glu4569Lys		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.E4575K	ENST00000366574.2	37	c.13723	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765925	0.69878	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.94092	-3.35;-3.35;-3.35	5.49	5.49	0.81192	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000014	D	0.90331	0.6975	L	0.47190	1.495	0.54753	D	0.999988	B;B	0.17268	0.001;0.021	B;B	0.17722	0.012;0.019	D	0.85713	0.1320	10	0.26408	T	0.33	-21.3768	15.2548	0.73576	0.0:0.1398:0.8602:0.0	.	2;4569	F5H3C7;Q92736	.;RYR2_HUMAN	K	4569;4575;4553;2	ENSP00000355533:E4569K;ENSP00000353174:E4575K;ENSP00000443798:E4553K	ENSP00000353174:E4575K	E	+	1	0	RYR2	236022169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.827000	0.86722	2.731000	0.93534	0.650000	0.86243	GAG	-	RYR2	-	pfam_Ryanrecept_TM4-6		0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0		30	30		0.00		G	NM_001035		237955546	+1	22		30		tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	42.31		SNP	1.000	A	22	30
SIRPB2	284759	genome.wustl.edu	37	20	1460520	1460520	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1460520G>A	ENST00000359801.3	-	2	312	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	85	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTACCCCAGGGAAGGAGCCAC	0.473													ENSG00000196209																																					0													133.0	120.0	124.0					20																	1460520		1568	3582	5150	SO:0001819	synonymous_variant	0			-	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.276C>T	20.37:g.1460520G>A			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F92	ENST00000359801.3	37	c.276	CCDS42849.1	20																																																																																			-	SIRPB2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	HGNC	protein_coding	OTTHUMT00000077544.1	0	0		69	69		0.00		G	NM_178459		1460520	-1	25		77		tier1	no_errors	ENST00000359801	ensembl	human	known	74_37	silent	24.51		SNP	0.978	A	25	77
RP11-105C19.2	0	genome.wustl.edu	37	16	22623111	22623111	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:22623111G>A	ENST00000567401.1	-	0	406				RP11-105C19.1_ENST00000566098.1_lincRNA																							ACTTCTGAGAGGAAAGTTGAC	0.388													ENSG00000260973																																					0																																												0			-																													16.37:g.22623111G>A				R	SNP	-	NULL	ENST00000567401.1	37	NULL		16																																																																																			-	RP11-105C19.2	-	-		0.388	RP11-105C19.2-001	KNOWN	basic	lincRNA	ENSG00000260973	Clone_based_vega_gene	lincRNA	OTTHUMT00000434000.1	0	0		47	47		0.00		G			22623111	-1	7		42		tier1	no_errors	ENST00000567401	ensembl	human	known	74_37	rna	14.29		SNP	0.992	A	7	42
PHLDB2	90102	genome.wustl.edu	37	3	111604348	111604348	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:111604348G>A	ENST00000431670.2	+	2	1746				PHLDB2_ENST00000393925.3_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G475E	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGATATGTGGGAATATAGGA	0.433													ENSG00000144824																																					0																																										SO:0001627	intron_variant	0			-		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1335+89G>A	3.37:g.111604348G>A			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	NULL	p.G475E	ENST00000431670.2	37	c.1424	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719916	0.15372	.	.	ENSG00000144824	ENST00000478922	.	.	.	5.22	3.19	0.36642	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16512	-1.0400	6	.	.	.	.	8.623	0.33872	0.2006:0.0:0.7994:0.0	.	475	E9PDY7	.	E	475	.	.	G	+	2	0	PHLDB2	113087038	0.001000	0.12720	0.008000	0.14137	0.019000	0.09904	0.211000	0.17474	1.171000	0.42768	0.655000	0.94253	GGG	-	PHLDB2	-	NULL		0.433	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	0	0		45	45		0.00		G	NM_145753		111604348	+1	22		56		tier1	no_errors	ENST00000478922	ensembl	human	putative	74_37	missense	28.21		SNP	0.003	A	22	56
GMEB1	10691	genome.wustl.edu	37	1	29041478	29041478	+	IGR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:29041478C>T	ENST00000294409.2	+	0	1912				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)		AGCTGCCCTTCCAGAAGTTGA	0.353													ENSG00000162419																																					0																																										SO:0001628	intergenic_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		1.37:g.29041478C>T			B1AT48|Q9NWH1|Q9UKD0	R	SNP	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																			-	GMEB1	-	-		0.353	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	0	0		107	107		0.00		C	NM_006582		29041478	+1	35		84		tier1	no_errors	ENST00000480454	ensembl	human	known	74_37	rna	29.41		SNP	0.042	T	35	84
C6orf201	404220	genome.wustl.edu	37	6	4087831	4087831	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:4087831C>T	ENST00000380175.4	+	0	721				FAM217A_ENST00000380188.2_5'Flank|C6orf201_ENST00000430835.2_5'UTR|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Intron	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201											central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTGTAAGAAGCCGGAAAACTG	0.483													ENSG00000185689																																					0													135.0	146.0	143.0					6																	4087831		1941	4154	6095	SO:0001623	5_prime_UTR_variant	0			-	BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.-45C>T	6.37:g.4087831C>T			A6NLI6|Q6NXN5	R	SNP	-	NULL	ENST00000380175.4	37	NULL	CCDS43419.1	6																																																																																			-	C6orf201	-	-		0.483	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	C6orf201	HGNC	protein_coding	OTTHUMT00000314019.2	0	0		58	58		0.00		C	NM_001085401		4087831	+1	34		48		tier1	no_errors	ENST00000360378	ensembl	human	known	74_37	rna	41.46		SNP	0.000	T	34	48
CNTN4	152330	genome.wustl.edu	37	3	3097885	3097885	+	Missense_Mutation	SNP	C	C	T	rs267599765		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:3097885C>T	ENST00000397461.1	+	24	3446	c.3062C>T	c.(3061-3063)aCa>aTa	p.T1021I	CNTN4_ENST00000427331.1_Missense_Mutation_p.T1021I|CNTN4_ENST00000358480.3_Missense_Mutation_p.T802I|CNTN4_ENST00000397459.2_Missense_Mutation_p.T693I|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.T1021I|CNTN4_ENST00000448906.2_Missense_Mutation_p.T693I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1021					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTTCCCTCACAGCTAGGTCC	0.403													ENSG00000144619																																					0													127.0	112.0	117.0					3																	3097885		2203	4300	6503	SO:0001583	missense	0			-	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.3062C>T	3.37:g.3097885C>T	ENSP00000380602:p.Thr1021Ile		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T1021I	ENST00000397461.1	37	c.3062	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444946	0.43429	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57273	0.45;0.45;0.45;0.46;0.41;0.41	5.5	5.5	0.81552	.	0.243724	0.40064	N	0.001186	T	0.39306	0.1073	N	0.25426	0.745	0.80722	D	1	B;B	0.26120	0.132;0.142	B;B	0.25884	0.064;0.014	T	0.33059	-0.9883	10	0.02654	T	1	.	19.3897	0.94576	0.0:1.0:0.0:0.0	.	1020;1021	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	I	1021;1021;1021;802;693;693	ENSP00000396010:T1021I;ENSP00000380602:T1021I;ENSP00000413642:T1021I;ENSP00000351267:T802I;ENSP00000380600:T693I;ENSP00000392077:T693I	ENSP00000351267:T802I	T	+	2	0	CNTN4	3072885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.834000	0.75339	2.591000	0.87537	0.591000	0.81541	ACA	-	CNTN4	-	NULL		0.403	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	0	0		80	80		0.00		C			3097885	+1	29		57		tier1	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	33.72		SNP	1.000	T	29	57
CAMP	820	genome.wustl.edu	37	3	48266856	48266856	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:48266856G>A	ENST00000576243.1	+	4	595	c.455G>A	c.(454-456)aGa>aAa	p.R152K	CAMP_ENST00000296435.2_Missense_Mutation_p.R155K			P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	152					antibacterial humoral response (GO:0019731)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptidoglycan (GO:0071224)|cellular response to tumor necrosis factor (GO:0071356)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of growth of symbiont on or near host surface (GO:0044140)|phagosome maturation (GO:0090382)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	cell projection (GO:0042995)|cell wall (GO:0005618)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|specific granule (GO:0042581)				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGTTTAAAAGAATTGTCCAG	0.458													ENSG00000164047																																					0													117.0	129.0	125.0					3																	48266856		2203	4300	6503	SO:0001583	missense	0			-	BC055089	CCDS2762.1, CCDS2762.2	3p21.3	2014-01-30			ENSG00000164047	ENSG00000164047		"""Endogenous ligands"""	1472	protein-coding gene	gene with protein product		600474				7624374	Standard	NM_004345		Approved	CAP18, FALL39, FALL-39, LL37	uc003csj.3	P49913	OTTHUMG00000133526	ENST00000576243.1:c.455G>A	3.37:g.48266856G>A	ENSP00000458149:p.Arg152Lys		Q71SN9	Missense_Mutation	SNP	pfam_Cathelicidin,pfam_Cathlecidin_C	p.R155K	ENST00000576243.1	37	c.464		3	.	.	.	.	.	.	.	.	.	.	G	1.009	-0.688515	0.03328	.	.	ENSG00000164047	ENST00000296435	.	.	.	4.51	-9.03	0.00737	Cathelicidin, antimicrobial peptide, C-terminal (1);	1.006400	0.07982	N	0.985708	T	0.08891	0.0220	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14090	-1.0485	9	0.02654	T	1	0.4379	3.8082	0.08786	0.2433:0.2197:0.4295:0.1075	.	152	P49913	CAMP_HUMAN	K	152	.	ENSP00000296435:R152K	R	+	2	0	CAMP	48241860	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.934000	0.03955	-2.569000	0.00469	-0.340000	0.08031	AGA	-	CAMP	-	pfam_Cathlecidin_C		0.458	CAMP-201	KNOWN	basic|appris_candidate	protein_coding	CAMP	HGNC	protein_coding		0	0		108	108		0.00		G	NM_004345		48266856	+1	51		85		tier1	no_errors	ENST00000296435	ensembl	human	known	74_37	missense	37.50		SNP	0.000	A	51	85
USP35	57558	genome.wustl.edu	37	11	77921522	77921522	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:77921522C>A	ENST00000529308.1	+	10	2882	c.2621C>A	c.(2620-2622)cCt>cAt	p.P874H	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.P605H|USP35_ENST00000441408.2_Missense_Mutation_p.P460H|USP35_ENST00000530267.1_Missense_Mutation_p.P442H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	874	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCTGCCCGCCCTGCCGCTTCT	0.597													ENSG00000118369																																					0													113.0	119.0	117.0					11																	77921522		1970	4140	6110	SO:0001583	missense	0			-	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2621C>A	11.37:g.77921522C>A	ENSP00000431876:p.Pro874His			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.P874H	ENST00000529308.1	37	c.2621	CCDS41693.1	11	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326796	0.41197	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.14144	3.09;3.32;2.53;3.21	4.8	2.95	0.34219	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.793696	0.10571	N	0.659150	T	0.20901	0.0503	L	0.42245	1.32	0.09310	N	1	D;D	0.63046	0.966;0.992	P;P	0.60117	0.754;0.869	T	0.15009	-1.0452	10	0.48119	T	0.1	-15.199	3.076	0.06247	0.3114:0.4145:0.0:0.2741	.	874;460	Q9P2H5;E7EWV7	UBP35_HUMAN;.	H	442;874;460;605	ENSP00000435468:P442H;ENSP00000431876:P874H;ENSP00000400825:P460H;ENSP00000434942:P605H	ENSP00000400825:P460H	P	+	2	0	USP35	77599170	.	.	0.345000	0.25642	0.761000	0.43186	.	.	0.641000	0.30601	0.491000	0.48974	CCT	-	USP35	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.597	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	0	0		28	28		0.00		C	XM_290527		77921522	+1	19		41		tier1	no_errors	ENST00000529308	ensembl	human	known	74_37	missense	31.15		SNP	0.000	A	19	41
MYH14	79784	genome.wustl.edu	37	19	50735285	50735285	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50735285G>A	ENST00000596571.1	+	8	1048	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	MYH14_ENST00000598205.1_Missense_Mutation_p.E358K|MYH14_ENST00000376970.2_Missense_Mutation_p.E350K|MYH14_ENST00000262269.8_Missense_Mutation_p.E358K|MYH14_ENST00000425460.1_Missense_Mutation_p.E358K|MYH14_ENST00000440075.2_Missense_Mutation_p.E358K|MYH14_ENST00000601313.1_Missense_Mutation_p.E358K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	350	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGACGCTGGAGTCGCTGCG	0.667													ENSG00000105357																																					0													35.0	38.0	37.0					19																	50735285		1959	4133	6092	SO:0001583	missense	0			-	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1048G>A	19.37:g.50735285G>A	ENSP00000472819:p.Glu350Lys		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E358K	ENST00000596571.1	37	c.1072	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144218	0.57044	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	4.09	4.09	0.47781	Myosin head, motor domain (2);	.	.	.	.	D	0.85544	0.5721	L	0.41124	1.26	0.41770	D	0.989767	P;P;P	0.47677	0.899;0.626;0.572	P;B;B	0.48488	0.579;0.274;0.179	D	0.86458	0.1777	9	0.49607	T	0.09	.	14.1722	0.65517	0.0:0.0:1.0:0.0	.	358;350;358	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	K	350;358;350;358;350;358	ENSP00000406273:E358K;ENSP00000366169:E350K;ENSP00000407879:E358K;ENSP00000262269:E358K	ENSP00000262269:E358K	E	+	1	0	MYH14	55427097	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.819000	0.75262	2.292000	0.77174	0.491000	0.48974	GAG	-	MYH14	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	0	0		66	66		0.00		G	NM_024729		50735285	+1	13		53		tier1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	19.70		SNP	1.000	A	13	53
SIGIRR	59307	genome.wustl.edu	37	11	405994	405994	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:405994C>T	ENST00000431843.2	-	10	1441	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	SIGIRR_ENST00000332725.3_Missense_Mutation_p.E379K|SIGIRR_ENST00000531205.1_Missense_Mutation_p.R475K|SIGIRR_ENST00000382520.2_Missense_Mutation_p.R475K|SIGIRR_ENST00000397632.3_Missense_Mutation_p.E379K|SIGIRR_ENST00000529486.1_5'Flank	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	379					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCGGCTCTCTCCCAGCGAG	0.627													ENSG00000185187																																					0													42.0	35.0	38.0					11																	405994		2198	4290	6488	SO:0001583	missense	0			-		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1135G>A	11.37:g.405994C>T	ENSP00000403104:p.Glu379Lys		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.R475K	ENST00000431843.2	37	c.1424	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.87|16.87	3.240933|3.240933	0.58995|0.58995	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000528845;ENST00000431843;ENST00000397632;ENST00000332725|ENST00000531205;ENST00000382520	T;T;T|T;T	0.03772|0.03801	3.81;3.81;3.81|3.8;3.8	3.56|3.56	3.56|3.56	0.40772|0.40772	.|.	.|.	.|.	.|.	.|.	T|T	0.05731|0.05731	0.0150|0.0150	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	B|P	0.30851|0.41673	0.297|0.759	B|B	0.33890|0.29176	0.172|0.099	T|T	0.30937|0.30937	-0.9961|-0.9961	9|8	0.66056|.	D|.	0.02|.	.|.	13.3792|13.3792	0.60759|0.60759	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	379|475	Q6IA17|C9JFX4	SIGIR_HUMAN|.	K|K	99;379;379;379|475	ENSP00000403104:E379K;ENSP00000380756:E379K;ENSP00000333656:E379K|ENSP00000433022:R475K;ENSP00000371960:R475K	ENSP00000333656:E379K|.	E|R	-|-	1|2	0|0	SIGIRR|SIGIRR	395994|395994	0.012000|0.012000	0.17670|0.17670	0.121000|0.121000	0.21740|0.21740	0.868000|0.868000	0.49771|0.49771	1.792000|1.792000	0.38754|0.38754	1.743000|1.743000	0.51761|0.51761	0.485000|0.485000	0.47835|0.47835	GAG|AGA	-	SIGIRR	-	NULL		0.627	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	0	0		71	71		0.00		C	NM_021805		405994	-1	24		56		tier1	no_errors	ENST00000382520	ensembl	human	known	74_37	missense	30.00		SNP	0.213	T	24	56
SRRM1	10250	genome.wustl.edu	37	1	24996032	24996032	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:24996032C>T	ENST00000323848.9	+	14	2473	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	SRRM1_ENST00000479034.1_3'UTR|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000447431.2_Missense_Mutation_p.P732S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P729S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	720	Arg-rich.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAGTACTAGGCCCATTAGGAG	0.458													ENSG00000133226																									Ovarian(68;897 1494 3282 17478)												0													33.0	32.0	33.0					1																	24996032		2203	4297	6500	SO:0001583	missense	0			-	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2158C>T	1.37:g.24996032C>T	ENSP00000326261:p.Pro720Ser		O60585|Q5VVN4	Missense_Mutation	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.P732S	ENST00000323848.9	37	c.2194	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658284	0.67586	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.36340	1.26;1.26;1.26	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000010	T	0.54303	0.1850	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.63703	0.917;0.829	T	0.53056	-0.8492	10	0.66056	D	0.02	-1.8987	19.8414	0.96690	0.0:1.0:0.0:0.0	.	732;720	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	S	720;732;729	ENSP00000326261:P720S;ENSP00000391430:P732S;ENSP00000363510:P729S	ENSP00000326261:P720S	P	+	1	0	SRRM1	24868619	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.223000	0.65283	2.680000	0.91292	0.563000	0.77884	CCC	-	SRRM1	-	NULL		0.458	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	HGNC	protein_coding	OTTHUMT00000009292.2	0	0		21	21		0.00		C	NM_005839		24996032	+1	11		15		tier1	no_errors	ENST00000447431	ensembl	human	known	74_37	missense	42.31		SNP	1.000	T	11	15
STIL	6491	genome.wustl.edu	37	1	47717309	47717309	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47717309T>A	ENST00000360380.3	-	18	3726	c.3363A>T	c.(3361-3363)aaA>aaT	p.K1121N	STIL_ENST00000243182.6_Missense_Mutation_p.K1121N|STIL_ENST00000337817.5_Missense_Mutation_p.K1121N|STIL_ENST00000371877.3_Missense_Mutation_p.K1122N|STIL_ENST00000396221.2_Missense_Mutation_p.K1104N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1121					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTCATATATTTTTTGGTTG	0.373													ENSG00000123473																																					0													156.0	159.0	158.0					1																	47717309		2203	4300	6503	SO:0001583	missense	0			-	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3363A>T	1.37:g.47717309T>A	ENSP00000353544:p.Lys1121Asn		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.K1122N	ENST00000360380.3	37	c.3366	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473859	0.63737	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182	T;T;T;T;T	0.36878	1.24;1.24;1.23;1.43;1.24	5.48	0.699	0.18093	.	0.043791	0.85682	D	0.000000	T	0.48642	0.1511	L	0.59436	1.845	0.52501	D	0.999952	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.964;0.964;0.964	T	0.46359	-0.9197	10	0.87932	D	0	-23.6769	8.4028	0.32597	0.0:0.4036:0.0:0.5964	.	1104;1122;1121	E9PSF2;Q15468-2;Q15468	.;.;STIL_HUMAN	N	1121;1121;1122;1104;1121	ENSP00000353544:K1121N;ENSP00000337367:K1121N;ENSP00000360944:K1122N;ENSP00000379523:K1104N;ENSP00000243182:K1121N	ENSP00000243182:K1121N	K	-	3	2	STIL	47489896	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.945000	0.29056	0.375000	0.24679	-0.621000	0.04028	AAA	-	STIL	-	NULL		0.373	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	0	0		72	72		0.00		T	NM_003035		47717309	-1	30		55		tier1	no_errors	ENST00000371877	ensembl	human	known	74_37	missense	35.29		SNP	1.000	A	30	55
ZNF831	128611	genome.wustl.edu	37	20	57769273	57769273	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:57769273G>A	ENST00000371030.2	+	1	3199	c.3199G>A	c.(3199-3201)Gac>Aac	p.D1067N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1067							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTAGTTCAGGACATGGAGGG	0.627													ENSG00000124203																																					0													32.0	36.0	34.0					20																	57769273		2073	4225	6298	SO:0001583	missense	0			-	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3199G>A	20.37:g.57769273G>A	ENSP00000360069:p.Asp1067Asn		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1067N	ENST00000371030.2	37	c.3199	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836584	0.50951	.	.	ENSG00000124203	ENST00000371030	T	0.10005	2.92	3.83	2.87	0.33458	.	0.662785	0.13010	N	0.420905	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	B	0.29270	0.24	B	0.20767	0.031	T	0.26950	-1.0088	10	0.54805	T	0.06	-1.935	8.6821	0.34214	0.1134:0.0:0.8866:0.0	.	1067	Q5JPB2	ZN831_HUMAN	N	1067	ENSP00000360069:D1067N	ENSP00000360069:D1067N	D	+	1	0	ZNF831	57202668	0.048000	0.20356	0.003000	0.11579	0.025000	0.11179	2.264000	0.43302	0.697000	0.31718	0.609000	0.83330	GAC	-	ZNF831	-	NULL		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	0	0		49	49		0.00		G	NM_178457		57769273	+1	14		71		tier1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	16.47		SNP	0.002	A	14	71
ZSCAN20	7579	genome.wustl.edu	37	1	33960531	33960531	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:33960531C>T	ENST00000361328.3	+	8	2740	c.2587C>T	c.(2587-2589)Cct>Tct	p.P863S		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	863					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTTGAATTCTCCTGGACCACA	0.438													ENSG00000121903																																					0													159.0	158.0	158.0					1																	33960531		1934	4156	6090	SO:0001583	missense	0			-	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2587C>T	1.37:g.33960531C>T	ENSP00000355053:p.Pro863Ser		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P863S	ENST00000361328.3	37	c.2587	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	C	3.476	-0.106973	0.06924	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.49	-0.235	0.13071	.	0.384766	0.22406	N	0.060466	T	0.05456	0.0144	N	0.00742	-1.23	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.32824	-0.9892	9	0.05959	T	0.93	-2.596	1.3104	0.02097	0.1407:0.3969:0.137:0.3255	.	862;863	P17040-3;P17040	.;ZSC20_HUMAN	S	863;797;797	.	ENSP00000324450:P863S	P	+	1	0	ZSCAN20	33733118	0.000000	0.05858	0.063000	0.19743	0.930000	0.56654	-2.831000	0.00743	0.287000	0.22375	0.655000	0.94253	CCT	-	ZSCAN20	-	NULL		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	0	0		43	43		0.00		C	NM_145238		33960531	+1	28		67		tier1	no_errors	ENST00000361328	ensembl	human	known	74_37	missense	29.47		SNP	0.000	T	28	67
HSPH1	10808	genome.wustl.edu	37	13	31736211	31736211	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:31736211G>A	ENST00000320027.5	-	0	0				HSPH1_ENST00000429785.2_5'Flank|HSPH1_ENST00000380405.4_5'Flank|HSPH1_ENST00000445273.2_Silent_p.L7L|HSPH1_ENST00000380406.5_5'Flank	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1						chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CCGGTCCCCGGAGAACGGCCG	0.657													ENSG00000120694																																					0																																										SO:0001631	upstream_gene_variant	0			-	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685		13.37:g.31736211G>A	Exception_encountered		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.L7	ENST00000320027.5	37	c.21	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	G	0.935	-0.711430	0.03230	.	.	ENSG00000120694	ENST00000438061	.	.	.	5.49	0.446	0.16602	.	.	.	.	.	T	0.40570	0.1122	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.38200	-0.9672	5	0.72032	D	0.01	-1.1739	7.5467	0.27770	0.1915:0.319:0.4895:0.0	.	.	.	.	S	17	.	ENSP00000392156:P17S	P	-	1	0	HSPH1	30634211	0.000000	0.05858	0.001000	0.08648	0.074000	0.17049	-0.438000	0.06905	0.095000	0.17434	-0.305000	0.09177	CCG	-	HSPH1	-	NULL		0.657	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	0	0		53	53		0.00		G			31736211	-1	12		40		tier1	no_errors	ENST00000445273	ensembl	human	known	74_37	silent	23.08		SNP	0.003	A	12	40
OR5T2	219464	genome.wustl.edu	37	11	56000262	56000262	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56000262G>A	ENST00000313264.4	-	1	475	c.400C>T	c.(400-402)Ctt>Ttt	p.L134F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	134						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)					ACACATCCAAGGAATGAAATG	0.388													ENSG00000181718																																					0													134.0	121.0	125.0					11																	56000262		2201	4296	6497	SO:0001583	missense	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.400C>T	11.37:g.56000262G>A	ENSP00000323688:p.Leu134Phe		B9EGX5|Q6IFC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L134F	ENST00000313264.4	37	c.400	CCDS31523.1	11	.	.	.	.	.	.	.	.	.	.	G	0.756	-0.771112	0.02974	.	.	ENSG00000181718	ENST00000313264	T	0.00382	7.61	5.07	-10.1	0.00402	GPCR, rhodopsin-like superfamily (1);	1.979650	0.02976	U	0.144941	T	0.00178	0.0005	L	0.41824	1.3	0.09310	N	1	B	0.14438	0.01	B	0.20577	0.03	T	0.50617	-0.8807	10	0.10111	T	0.7	.	1.433	0.02338	0.2805:0.2413:0.0888:0.3894	.	134	Q8NGG2	OR5T2_HUMAN	F	134	ENSP00000323688:L134F	ENSP00000323688:L134F	L	-	1	0	OR5T2	55756838	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.069000	0.00082	-2.492000	0.00516	-0.514000	0.04452	CTT	-	OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.388	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	0	0		45	45		0.00		G	NM_001004746		56000262	-1	18		33		tier1	no_errors	ENST00000313264	ensembl	human	known	74_37	missense	34.62		SNP	0.000	A	18	33
CLEC4E	26253	genome.wustl.edu	37	12	8687363	8687363	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:8687363C>T	ENST00000299663.3	-	6	696	c.531G>A	c.(529-531)gaG>gaA	p.E177E	CLEC4E_ENST00000545274.1_Silent_p.E132E|CLEC4E_ENST00000446457.2_3'UTR	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	177	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGGCACAGTCCTCCAGGGTAG	0.413													ENSG00000166523																																					0													121.0	112.0	115.0					12																	8687363		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.531G>A	12.37:g.8687363C>T			B2R6Q6	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E177	ENST00000299663.3	37	c.531	CCDS8594.1	12																																																																																			-	CLEC4E	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.413	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4E	HGNC	protein_coding	OTTHUMT00000400566.1	0	0		39	39		0.00		C	NM_014358		8687363	-1	17		18		tier1	no_errors	ENST00000299663	ensembl	human	known	74_37	silent	48.57		SNP	0.988	T	17	18
HMG20B	10362	genome.wustl.edu	37	19	3574083	3574083	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:3574083C>T	ENST00000333651.6	+	3	222				MFSD12_ENST00000591878.1_5'Flank|HMG20B_ENST00000585741.1_3'UTR	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B						blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGTTCTCCAGCAGAAAA	0.642													ENSG00000064961																																					0																																										SO:0001627	intron_variant	0			-	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.147+285C>T	19.37:g.3574083C>T			A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	R	SNP	-	NULL	ENST00000333651.6	37	NULL	CCDS45919.1	19																																																																																			-	HMG20B	-	-		0.642	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20B	HGNC	protein_coding	OTTHUMT00000318088.1	0	0		12	12		0.00		C	NM_006339		3574083	+1	5		5		tier1	no_errors	ENST00000585741	ensembl	human	known	74_37	rna	50.00		SNP	0.001	T	5	5
SRPK1	6732	genome.wustl.edu	37	6	35838094	35838094	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35838094C>T	ENST00000373825.2	-	10	1240	c.955G>A	c.(955-957)Gag>Aag	p.E319K	SRPK1_ENST00000373822.1_Missense_Mutation_p.E212K|SRPK1_ENST00000423325.2_Missense_Mutation_p.E303K					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GGTGGGTTCTCTTTCAAGGGT	0.373													ENSG00000096063																									NSCLC(31;67 978 16289 24856 26454)												0													115.0	106.0	109.0					6																	35838094		1824	4070	5894	SO:0001583	missense	0			-	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.955G>A	6.37:g.35838094C>T	ENSP00000362931:p.Glu319Lys			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.E319K	ENST00000373825.2	37	c.955	CCDS47415.1	6	.	.	.	.	.	.	.	.	.	.	C	10.99	1.505955	0.26949	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000510290	T;T;T;T	0.27890	1.64;1.64;1.65;1.71	5.61	4.74	0.60224	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.06188	0.0160	N	0.19112	0.55	0.31235	N	0.695844	B;B	0.31435	0.323;0.156	B;B	0.21917	0.035;0.037	T	0.16394	-1.0404	9	0.08837	T	0.75	-6.7126	12.5621	0.56288	0.0:0.9233:0.0:0.0767	.	303;319	B4DS61;Q96SB4	.;SRPK1_HUMAN	K	319;335;303;212;57	ENSP00000362931:E319K;ENSP00000354674:E335K;ENSP00000391069:E303K;ENSP00000362928:E212K	ENSP00000354674:E335K	E	-	1	0	SRPK1	35946072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.246000	0.51414	1.375000	0.46248	0.555000	0.69702	GAG	-	SRPK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.373	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3	0	0		52	52		0.00		C	NM_003137		35838094	-1	9		35		tier1	no_errors	ENST00000373825	ensembl	human	known	74_37	missense	20.45		SNP	1.000	T	9	35
C16orf91	283951	genome.wustl.edu	37	16	1470542	1470542	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1470542C>G	ENST00000442039.2	-	2	180	c.104G>C	c.(103-105)cGg>cCg	p.R35P	C16orf91_ENST00000563974.1_5'UTR|C16orf91_ENST00000310355.1_Missense_Mutation_p.R192P	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	35						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AGGGTGGGCCCGATCCCGGGA	0.657													ENSG00000174109																																					0													34.0	37.0	36.0					16																	1470542		2199	4299	6498	SO:0001583	missense	0			-	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.104G>C	16.37:g.1470542C>G	ENSP00000413100:p.Arg35Pro		Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.R192P	ENST00000442039.2	37	c.575		16	.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103947	0.06967	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	4.15	-3.42	0.04825	.	2.382310	0.02521	N	0.092585	T	0.27134	0.0665	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11372	-1.0590	8	0.48119	T	0.1	-0.6003	2.6461	0.04984	0.1148:0.4409:0.1553:0.2891	.	35	Q4G0I0	CSMT1_HUMAN	P	35;192	.	ENSP00000311390:R192P	R	-	2	0	C16orf91	1410543	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.501000	0.06398	-0.941000	0.03700	-1.367000	0.01198	CGG	-	C16orf91	-	NULL		0.657	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	0	0		41	41		0.00		C	NM_001010878		1470542	-1	27		37		tier1	no_errors	ENST00000310355	ensembl	human	known	74_37	missense	42.19		SNP	0.000	G	27	37
TTN	7273	genome.wustl.edu	37	2	179463272	179463272	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179463272G>A	ENST00000591111.1	-	242	52373	c.52149C>T	c.(52147-52149)atC>atT	p.I17383I	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.I10084I|TTN_ENST00000460472.2_Silent_p.I9959I|TTN_ENST00000589042.1_Silent_p.I19024I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I16456I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.I10151I			Q8WZ42	TITIN_HUMAN	titin	17383	Fibronectin type-III 26. {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)			TATATTCAACGATGTATCCAG	0.378													ENSG00000155657																																					0													95.0	90.0	91.0					2																	179463272		1828	4089	5917	SO:0001819	synonymous_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.52149C>T	2.37:g.179463272G>A			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	Silent	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.I16456	ENST00000591111.1	37	c.49368		2																																																																																			-	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		49	49		0.00		G	NM_133378		179463272	-1	23		29		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	44.23		SNP	0.258	A	23	29
ABCA3	21	genome.wustl.edu	37	16	2374521	2374521	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2374521G>A	ENST00000301732.5	-	6	1031	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	ABCA3_ENST00000567910.1_Missense_Mutation_p.P111S|ABCA3_ENST00000382381.3_Missense_Mutation_p.P111S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	111					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TTCTCGGAGGGAAAGCCGCGC	0.572													ENSG00000167972																																					0													56.0	48.0	51.0					16																	2374521		2198	4300	6498	SO:0001583	missense	0			-	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.331C>T	16.37:g.2374521G>A	ENSP00000301732:p.Pro111Ser		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P111S	ENST00000301732.5	37	c.331	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	0.783	-0.761776	0.02996	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.89746	-2.56	5.42	2.36	0.29203	.	0.703959	0.14912	N	0.291151	T	0.75932	0.3917	N	0.21194	0.64	0.25166	N	0.990319	B;B;B;B	0.09022	0.0;0.002;0.002;0.0	B;B;B;B	0.11329	0.006;0.006;0.006;0.004	T	0.57952	-0.7722	10	0.02654	T	1	.	6.6267	0.22833	0.1573:0.0:0.698:0.1447	.	111;173;111;111	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	S	111;173	ENSP00000301732:P111S	ENSP00000301732:P111S	P	-	1	0	ABCA3	2314522	0.990000	0.36364	0.064000	0.19789	0.134000	0.20937	0.899000	0.28417	0.250000	0.21479	0.655000	0.94253	CCC	-	ABCA3	-	NULL		0.572	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	0	0		21	21		0.00		G	NM_001089		2374521	-1	7		36		tier1	no_errors	ENST00000301732	ensembl	human	known	74_37	missense	15.91		SNP	0.947	A	7	36
CYP4A22	284541	genome.wustl.edu	37	1	47610344	47610344	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47610344C>T	ENST00000371891.3	+	8	1051	c.1020C>T	c.(1018-1020)caC>caT	p.H340H	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000294337.3_Silent_p.H340H|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	340						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGCCACACACCCCAAGCATC	0.597													ENSG00000162365																									Pancreas(88;1240 1470 2099 14214 37557)												0													59.0	60.0	59.0					1																	47610344		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1020C>T	1.37:g.47610344C>T			Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.H340	ENST00000371891.3	37	c.1020	CCDS30707.1	1																																																																																			-	CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.597	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	0	0		41	41		0.00		C	XM_208213		47610344	+1	8		46		tier1	no_errors	ENST00000371891	ensembl	human	known	74_37	silent	14.81		SNP	0.477	T	8	46
ZNF512	84450	genome.wustl.edu	37	2	27840415	27840415	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:27840415C>T	ENST00000355467.4	+	13	1455	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ZNF512_ENST00000416005.2_Missense_Mutation_p.H429Y|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Missense_Mutation_p.H327Y|ZNF512_ENST00000413371.2_Missense_Mutation_p.H381Y|ZNF512_ENST00000379717.1_Missense_Mutation_p.H457Y	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TGTCAAGTATCACATCAACTC	0.403													ENSG00000243943																																					0													119.0	105.0	109.0					2																	27840415		2203	4300	6503	SO:0001583	missense	0			-	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1372C>T	2.37:g.27840415C>T	ENSP00000347648:p.His458Tyr		B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H458Y	ENST00000355467.4	37	c.1372	CCDS1758.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840050	0.91117	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	L	0.34521	1.04	0.58432	D	0.99999	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.81914	0.995;0.995;0.995	T	0.69928	-0.5012	9	0.87932	D	0	-13.3637	16.5112	0.84286	0.0:1.0:0.0:0.0	.	353;429;458	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	Y	457;458;327;429;381	.	ENSP00000347648:H458Y	H	+	1	0	ZNF512	27693919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.516000	0.73755	2.675000	0.91044	0.655000	0.94253	CAC	-	ZNF512	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	HGNC	protein_coding	OTTHUMT00000215029.2	0	0		105	105		0.00		C	NM_032434		27840415	+1	23		96		tier1	no_errors	ENST00000355467	ensembl	human	known	74_37	missense	19.33		SNP	1.000	T	23	96
FKBP9	11328	genome.wustl.edu	37	7	33016063	33016063	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:33016063C>A	ENST00000242209.4	+	4	824	c.655C>A	c.(655-657)Cgc>Agc	p.R219S	FKBP9_ENST00000538336.1_Missense_Mutation_p.R272S|FKBP9_ENST00000538443.1_Missense_Mutation_p.R81S|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	219	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGTGAGAAGCGCATCATCAC	0.483													ENSG00000122642																																					0													165.0	143.0	151.0					7																	33016063		2202	4286	6488	SO:0001583	missense	0			-	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.655C>A	7.37:g.33016063C>A	ENSP00000242209:p.Arg219Ser		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.R272S	ENST00000242209.4	37	c.814	CCDS5439.1	7	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554495	0.86231	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443	D;D;D	0.87571	-2.27;-2.27;-2.27	4.73	4.73	0.59995	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.94427	0.7646	10	0.66056	D	0.02	-14.008	18.074	0.89422	0.0:1.0:0.0:0.0	.	272;219;219	B7Z6H3;O95302;B3KQQ0	.;FKBP9_HUMAN;.	S	219;272;81	ENSP00000242209:R219S;ENSP00000439250:R272S;ENSP00000437504:R81S	ENSP00000242209:R219S	R	+	1	0	FKBP9	32982588	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.960000	0.70348	2.341000	0.79615	0.455000	0.32223	CGC	-	FKBP9	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.483	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP9	HGNC	protein_coding	OTTHUMT00000215137.1	0	0		81	81		0.00		C	NM_007270		33016063	+1	26		83		tier1	no_errors	ENST00000538336	ensembl	human	known	74_37	missense	23.85		SNP	1.000	A	26	83
ZIC2	7546	genome.wustl.edu	37	13	100635185	100635185	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:100635185G>A	ENST00000376335.3	+	1	1160	c.867G>A	c.(865-867)gtG>gtA	p.V289V		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	289					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGTCTCGGTGGAGCACGTCG	0.577													ENSG00000043355																									Pancreas(97;119 1522 31925 44771 48764)												0													120.0	119.0	119.0					13																	100635185		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.867G>A	13.37:g.100635185G>A			Q5VYA9|Q9H309	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V289	ENST00000376335.3	37	c.867	CCDS9495.1	13																																																																																			-	ZIC2	-	smart_Znf_C2H2-like		0.577	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	0	0		41	41		0.00		G	NM_007129		100635185	+1	11		18		tier1	no_errors	ENST00000376335	ensembl	human	known	74_37	silent	36.67		SNP	1.000	A	11	18
KIAA1211	57482	genome.wustl.edu	37	4	57189570	57189570	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:57189570C>T	ENST00000504228.1	+	7	3320	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S1065F|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S1072F			Q6ZU35	K1211_HUMAN	KIAA1211	1072										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGACACTCCTTAGATGGC	0.498													ENSG00000109265																																					0													74.0	76.0	75.0					4																	57189570		1926	4142	6068	SO:0001583	missense	0			-	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3215C>T	4.37:g.57189570C>T	ENSP00000423366:p.Ser1072Phe		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.S1072F	ENST00000504228.1	37	c.3215	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519822	0.64634	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.21031	2.06;2.06;2.03	5.71	5.71	0.89125	.	.	.	.	.	T	0.48589	0.1508	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43845	-0.9366	9	0.87932	D	0	-5.1605	19.8688	0.96842	0.0:1.0:0.0:0.0	.	1065;1072	F5H1N7;Q6ZU35	.;K1211_HUMAN	F	1072;1072;1065	ENSP00000264229:S1072F;ENSP00000423366:S1072F;ENSP00000444006:S1065F	ENSP00000264229:S1072F	S	+	2	0	KIAA1211	56884327	1.000000	0.71417	0.936000	0.37596	0.079000	0.17450	7.266000	0.78452	2.689000	0.91719	0.563000	0.77884	TCC	-	KIAA1211	-	NULL		0.498	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	0	0		64	64		0.00		C	NM_020722		57189570	+1	21		63		tier1	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	25.00		SNP	1.000	T	21	63
CFAP54	144535	genome.wustl.edu	37	12	96883615	96883615	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:96883615G>A	ENST00000524981.4	+	1	251	c.228G>A	c.(226-228)gaG>gaA	p.E76E	C12orf55_ENST00000298953.3_Silent_p.E76E			Q96N23	CL055_HUMAN		76																	CCTCTTGTGAGAAGGAGATCC	0.572											OREG0022044	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000188596																																					0																																										SO:0001819	synonymous_variant	0			-																												ENST00000524981.4:c.228G>A	12.37:g.96883615G>A		1324		Silent	SNP	superfamily_Fibronectin_type3	p.E76	ENST00000524981.4	37	c.228		12																																																																																			-	C12orf55	-	NULL		0.572	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	0	0		138	138		0.00		G			96883615	+1	40		118		tier1	no_errors	ENST00000524981	ensembl	human	putative	74_37	silent	25.32		SNP	0.966	A	40	118
ANKRD34C	390616	genome.wustl.edu	37	15	79586497	79586497	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:79586497C>T	ENST00000558647.2	+	1	871	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ANKRD34C_ENST00000421388.2_Missense_Mutation_p.P291S			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	291										endometrium(3)|kidney(1)|skin(1)	5						TATATCCTTCCCTAAAAGGGG	0.542													ENSG00000235711																																					0													6.0	7.0	7.0					15																	79586497		679	1576	2255	SO:0001583	missense	0			-		CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.871C>T	15.37:g.79586497C>T	ENSP00000454921:p.Pro291Ser		H3BNM1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P291S	ENST00000558647.2	37	c.871	CCDS53965.1	15	.	.	.	.	.	.	.	.	.	.	C	0	-2.811920	0.00073	.	.	ENSG00000235711	ENST00000421388	T	0.22539	1.95	4.72	0.5	0.16919	.	.	.	.	.	T	0.07593	0.0191	N	0.13043	0.29	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.37911	-0.9685	9	0.02654	T	1	.	1.0794	0.01639	0.2854:0.3746:0.1613:0.1788	.	291	P0C6C1	AN34C_HUMAN	S	291	ENSP00000401089:P291S	ENSP00000401089:P291S	P	+	1	0	ANKRD34C	77373552	0.000000	0.05858	0.032000	0.17829	0.099000	0.18886	0.184000	0.16939	0.186000	0.20125	-0.890000	0.02929	CCT	-	ANKRD34C	-	NULL		0.542	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34C	HGNC	protein_coding	OTTHUMT00000416713.2	0	0		21	21		0.00		C	NM_001146341		79586497	+1	7		9		tier1	no_errors	ENST00000421388	ensembl	human	known	74_37	missense	43.75		SNP	0.113	T	7	9
SLC17A6	57084	genome.wustl.edu	37	11	22391619	22391619	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:22391619C>T	ENST00000263160.3	+	8	1363	c.926C>T	c.(925-927)tCc>tTc	p.S309F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	309					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTTTTACATCCATGCCAGTC	0.333													ENSG00000091664																																					0													71.0	69.0	69.0					11																	22391619		2202	4297	6499	SO:0001583	missense	0			-	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.926C>T	11.37:g.22391619C>T	ENSP00000263160:p.Ser309Phe		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S309F	ENST00000263160.3	37	c.926	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288351	0.80803	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.60672	0.17	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.102586	0.64402	D	0.000001	D	0.83894	0.5353	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88745	0.3246	10	0.87932	D	0	.	12.8669	0.57944	0.0:0.9249:0.0:0.0751	.	309	Q9P2U8	VGLU2_HUMAN	F	309;197	ENSP00000263160:S309F	ENSP00000263160:S309F	S	+	2	0	SLC17A6	22348195	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.702000	0.92279	0.591000	0.81541	TCC	-	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.333	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	0	0		48	48		0.00		C	NM_020346		22391619	+1	18		69		tier1	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	20.69		SNP	1.000	T	18	69
KRT4	3851	genome.wustl.edu	37	12	53207481	53207481	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:53207481G>A	ENST00000551956.1	-	1	854	c.362C>T	c.(361-363)cCc>cTc	p.P121L	KRT4_ENST00000293774.4_Missense_Mutation_p.P195L|KRT4_ENST00000458244.2_Missense_Mutation_p.P101L			P19013	K2C4_HUMAN	keratin 4	135	Gly-rich.|Head.				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						CACGTGGAGGGGGGTGAGCAA	0.582													ENSG00000170477																									Pancreas(190;284 2995 41444 45903)												0																																										SO:0001583	missense	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.362C>T	12.37:g.53207481G>A	ENSP00000448220:p.Pro121Leu		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.P195L	ENST00000551956.1	37	c.584	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869228	0.91587	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.75589	-0.95;-0.95;-0.95	4.88	4.88	0.63580	.	0.000000	0.46145	D	0.000316	D	0.90356	0.6982	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92896	0.6335	10	0.87932	D	0	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	135	P19013	K2C4_HUMAN	L	121;195;101	ENSP00000448220:P121L;ENSP00000293774:P195L;ENSP00000387904:P101L	ENSP00000293774:P195L	P	-	2	0	KRT4	51493748	1.000000	0.71417	0.991000	0.47740	0.915000	0.54546	7.652000	0.83633	2.636000	0.89361	0.585000	0.79938	CCC	-	KRT4	-	NULL		0.582	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	0	0		60	60		0.00		G	NM_002272		53207481	-1	17		69		tier1	no_errors	ENST00000293774	ensembl	human	known	74_37	missense	19.77		SNP	1.000	A	17	69
MYO7B	4648	genome.wustl.edu	37	2	128342362	128342362	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:128342362C>T	ENST00000409816.2	+	13	1596	c.1564C>T	c.(1564-1566)Ctc>Ttc	p.L522F	MYO7B_ENST00000389524.4_Missense_Mutation_p.L522F|MYO7B_ENST00000428314.1_Missense_Mutation_p.L522F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	522	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGGACAGATCTCACCATGCT	0.557													ENSG00000169994																																					0													117.0	122.0	120.0					2																	128342362		2069	4211	6280	SO:0001583	missense	0			-		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1564C>T	2.37:g.128342362C>T	ENSP00000386461:p.Leu522Phe		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.L522F	ENST00000409816.2	37	c.1564	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	8.666	0.901640	0.17760	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87334	-2.24;-2.24;-2.24	4.74	-6.77	0.01727	Myosin head, motor domain (2);	0.990820	0.08214	N	0.980285	T	0.76926	0.4056	L	0.33485	1.01	0.09310	N	1	B	0.20459	0.045	B	0.17433	0.018	T	0.62572	-0.6826	10	0.54805	T	0.06	.	8.5974	0.33723	0.3056:0.2974:0.397:0.0	.	522	Q6PIF6	MYO7B_HUMAN	F	522	ENSP00000374175:L522F;ENSP00000415090:L522F;ENSP00000386461:L522F	ENSP00000374175:L522F	L	+	1	0	MYO7B	128058832	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-0.333000	0.07894	-1.221000	0.02591	-0.976000	0.02587	CTC	-	MYO7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.557	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	0	0		26	26		0.00		C	XM_291001		128342362	+1	8		26		tier1	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	23.53		SNP	0.000	T	8	26
TRPM8	79054	genome.wustl.edu	37	2	234891740	234891740	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:234891740T>G	ENST00000324695.4	+	20	2673	c.2633T>G	c.(2632-2634)aTg>aGg	p.M878R	TRPM8_ENST00000433712.2_Missense_Mutation_p.M456R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	878					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCGGTGTGGATGGTGGCCTTT	0.587													ENSG00000144481																																					0													249.0	213.0	225.0					2																	234891740		2203	4300	6503	SO:0001583	missense	0			-	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2633T>G	2.37:g.234891740T>G	ENSP00000323926:p.Met878Arg		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.M878R	ENST00000324695.4	37	c.2633	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742824	0.89573	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	D;D;D	0.98531	-4.98;-4.98;-4.98	5.8	5.8	0.92144	Ion transport (1);	0.066196	0.64402	D	0.000005	D	0.98077	0.9366	L	0.46157	1.445	0.43476	D	0.995696	D;P	0.58268	0.982;0.927	P;P	0.61132	0.884;0.596	D	0.99177	1.0866	10	0.87932	D	0	-48.753	14.9778	0.71289	0.0:0.0:0.0:1.0	.	456;878	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	R	878;456;139	ENSP00000323926:M878R;ENSP00000404423:M456R;ENSP00000414198:M139R	ENSP00000323926:M878R	M	+	2	0	TRPM8	234556479	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.213000	0.71641	0.528000	0.53228	ATG	-	TRPM8	-	pfam_Ion_trans_dom		0.587	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	0	0		31	31		0.00		T	NM_024080		234891740	+1	7		25		tier1	no_errors	ENST00000324695	ensembl	human	known	74_37	missense	21.88		SNP	1.000	G	7	25
ZEB1	6935	genome.wustl.edu	37	10	31652674	31652674	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:31652674C>T	ENST00000320985.10	+	1	168				RP11-192P3.5_ENST00000607134.1_RNA|ZEB1_ENST00000446923.2_Intron|ZEB1_ENST00000560721.2_Intron|RP11-192P3.5_ENST00000359888.2_RNA|ZEB1_ENST00000559858.1_Intron|ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000361642.5_Intron			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1						cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGGTTTCTTCCTTGAGGGGGG	0.577													ENSG00000196960																									Ovarian(40;423 959 14296 36701 49589)												0																																										SO:0001627	intron_variant	0			-	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.58+44453C>T	10.37:g.31652674C>T			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	R	SNP	-	NULL	ENST00000320985.10	37	NULL	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	c	11.31	1.600715	0.28534	.	.	ENSG00000196960	ENST00000359888	T	0.16597	2.33	.	.	.	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30707	-0.9969	4	0.38643	T	0.18	.	.	.	.	.	.	.	.	K	27	ENSP00000352954:R27K	ENSP00000352954:R27K	R	-	2	0	AL117340.1	31692680	0.095000	0.21747	0.031000	0.17742	0.031000	0.12232	0.554000	0.23407	0.088000	0.17205	0.089000	0.15464	AGG	-	RP11-192P3.5	-	-		0.577	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100505502	Clone_based_vega_gene	protein_coding	OTTHUMT00000419083.2	0	0		136	136		0.00		C	NM_030751		31652674	-1	41		140		tier1	no_errors	ENST00000359888	ensembl	human	known	74_37	rna	22.65		SNP	0.032	T	41	140
MRPS27	23107	genome.wustl.edu	37	5	71616096	71616096	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:71616096G>A	ENST00000261413.5	-	0	0				PTCD2_ENST00000380639.5_5'Flank|PTCD2_ENST00000543322.1_5'Flank|PTCD2_ENST00000503868.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000522095.1_5'Flank|PTCD2_ENST00000536805.1_5'Flank|MRPS27_ENST00000513900.1_5'Flank|MRPS27_ENST00000457646.4_5'Flank	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27							mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GACAGAGGAAGGGGCGGGGTT	0.637													ENSG00000113048																																					0													30.0	33.0	32.0					5																	71616096		2203	4300	6503	SO:0001631	upstream_gene_variant	0			-	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951		5.37:g.71616096G>A	Exception_encountered		B4DRT2|Q6P1S1	R	SNP	-	NULL	ENST00000261413.5	37	NULL	CCDS4013.1	5																																																																																			-	MRPS27	-	-		0.637	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	0	0		51	51		0.00		G	NM_015084		71616096	-1	42		64		tier1	no_errors	ENST00000506957	ensembl	human	known	74_37	rna	39.25		SNP	0.125	A	42	64
VTN	7448	genome.wustl.edu	37	17	26695641	26695641	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:26695641C>G	ENST00000226218.4	-	6	1498	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	SARM1_ENST00000379061.4_Intron|VTN_ENST00000438614.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.2_ENST00000555059.2_5'Flank|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	294					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GAGCTGCCTTCACACTCCTCC	0.592													ENSG00000109072																																					0													84.0	77.0	80.0					17																	26695641		2203	4300	6503	SO:0001583	missense	0			-	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.880G>C	17.37:g.26695641C>G	ENSP00000226218:p.Glu294Gln		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E294Q	ENST00000226218.4	37	c.880	CCDS11229.1	17	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407611	0.42715	.	.	ENSG00000255604	ENST00000226218	T	0.02656	4.21	5.92	5.92	0.95590	Hemopexin/matrixin (1);	0.339123	0.36066	N	0.002817	T	0.03695	0.0105	L	0.35414	1.06	0.31508	N	0.66394	P	0.36354	0.549	B	0.36567	0.228	T	0.30327	-0.9982	10	0.33141	T	0.24	-14.8302	15.7636	0.78106	0.0:0.8644:0.1356:0.0	.	294	P04004	VTNC_HUMAN	Q	294	ENSP00000226218:E294Q	ENSP00000226218:E294Q	E	-	1	0	AC002094.1	23719768	0.601000	0.26907	0.985000	0.45067	0.926000	0.56050	1.822000	0.39052	2.804000	0.96469	0.655000	0.94253	GAA	-	VTN	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat		0.592	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255680.2	0	0		23	23		0.00		C	NM_000638		26695641	-1	19		25		tier1	no_errors	ENST00000226218	ensembl	human	known	74_37	missense	43.18		SNP	0.983	G	19	25
EEFSEC	60678	genome.wustl.edu	37	3	127981042	127981042	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:127981042C>T	ENST00000254730.6	+	3	650	c.596C>T	c.(595-597)cCa>cTa	p.P199L	EEFSEC_ENST00000483457.1_Missense_Mutation_p.P199L	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	199	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACTGAAGCTCCACAGGGCATT	0.577													ENSG00000132394																																					0													85.0	97.0	93.0					3																	127981042		2203	4300	6503	SO:0001583	missense	0			-		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.596C>T	3.37:g.127981042C>T	ENSP00000254730:p.Pro199Leu		Q96HZ6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.P199L	ENST00000254730.6	37	c.596	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378499	0.42207	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.54675	0.8;0.56	5.46	5.46	0.80206	Protein synthesis factor, GTP-binding (1);	0.173031	0.52532	D	0.000079	T	0.64170	0.2574	L	0.50333	1.59	0.80722	D	1	P;D	0.53885	0.555;0.963	B;P	0.58130	0.178;0.833	T	0.63409	-0.6644	10	0.48119	T	0.1	.	17.4963	0.87718	0.0:1.0:0.0:0.0	.	199;199	C9J8T0;P57772	.;SELB_HUMAN	L	199	ENSP00000254730:P199L;ENSP00000417660:P199L	ENSP00000254730:P199L	P	+	2	0	EEFSEC	129463732	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.392000	0.66272	2.551000	0.86045	0.655000	0.94253	CCA	-	EEFSEC	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase		0.577	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	HGNC	protein_coding	OTTHUMT00000356738.2	0	0		35	35		0.00		C	NM_021937		127981042	+1	19		38		tier1	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	33.33		SNP	1.000	T	19	38
PRDM9	56979	genome.wustl.edu	37	5	23526341	23526341	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:23526341G>A	ENST00000296682.3	+	11	1326		c.e11-1			NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCTTTCAGAACCAAAGCC	0.403										HNSCC(3;0.000094)			ENSG00000164256																																					0													91.0	88.0	89.0					5																	23526341		2203	4297	6500	SO:0001630	splice_region_variant	0			-	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1145-1G>A	5.37:g.23526341G>A			B4DX22|Q27Q50	Splice_Site	SNP	-	e10-1	ENST00000296682.3	37	c.1145-1	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	6.260	0.416062	0.11870	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5162	0.50522	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRDM9	23562098	0.955000	0.32602	0.098000	0.21074	0.096000	0.18686	0.740000	0.26188	1.940000	0.56252	0.505000	0.49811	.	-	PRDM9	-	-		0.403	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	0	0		78	78		0.00		G	NM_020227	Intron	23526341	+1	13		104		tier1	no_errors	ENST00000296682	ensembl	human	known	74_37	splice_site	11.11		SNP	0.488	A	13	104
HYDIN	54768	genome.wustl.edu	37	16	70977834	70977834	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:70977834G>A	ENST00000393567.2	-	42	6700	c.6550C>T	c.(6550-6552)Ccc>Tcc	p.P2184S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2184					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)				GGCCCCGGGGGGAGAGGGCTG	0.577													ENSG00000157423																																					0													28.0	31.0	30.0					16																	70977834		1969	4158	6127	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.6550C>T	16.37:g.70977834G>A	ENSP00000377197:p.Pro2184Ser		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.P2184S	ENST00000393567.2	37	c.6550	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	g	7.065	0.567169	0.13560	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00864	5.6	5.04	1.7	0.24286	.	0.246545	0.20112	U	0.098996	T	0.01092	0.0036	L	0.56769	1.78	0.09310	N	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.46233	-0.9206	10	0.30078	T	0.28	.	3.6373	0.08154	0.151:0.1324:0.5801:0.1365	.	2183	F8WD23	.	S	2184;2183	ENSP00000377197:P2184S	ENSP00000313052:P2183S	P	-	1	0	HYDIN	69535335	0.009000	0.17119	0.297000	0.24988	0.232000	0.25224	1.128000	0.31369	0.601000	0.29879	0.543000	0.68304	CCC	-	HYDIN	-	superfamily_P-loop_NTPase		0.577	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	0	0		25	25		0.00		G			70977834	-1	7		7		tier1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	50.00		SNP	0.179	A	7	7
CCDC183	84960	genome.wustl.edu	37	9	139698970	139698970	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139698970G>A	ENST00000338005.6	+	7	718	c.683G>A	c.(682-684)aGg>aAg	p.R228K	RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		228										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATGAGGCAAAGGGAGGCGTCC	0.607													ENSG00000213213																																					0													35.0	39.0	38.0					9																	139698970		1965	4132	6097	SO:0001583	missense	0			-																												ENST00000338005.6:c.683G>A	9.37:g.139698970G>A	ENSP00000338013:p.Arg228Lys		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.R228K	ENST00000338005.6	37	c.683	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792358	0.16258	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.13420	2.59	4.24	-2.7	0.06004	.	1.109350	0.07051	U	0.832005	T	0.04182	0.0116	N	0.02011	-0.69	0.23174	N	0.998174	B	0.02656	0.0	B	0.04013	0.001	T	0.37686	-0.9695	10	0.38643	T	0.18	-7.8547	2.6451	0.04982	0.2648:0.3375:0.2986:0.0991	.	228	Q5T5S1	K1984_HUMAN	K	228	ENSP00000338013:R228K	ENSP00000338013:R228K	R	+	2	0	KIAA1984	138818791	0.000000	0.05858	0.155000	0.22561	0.798000	0.45092	-0.572000	0.05881	-0.571000	0.06014	-1.012000	0.02466	AGG	-	KIAA1984	-	NULL		0.607	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	0	0		24	24		0.00		G			139698970	+1	18		37		tier1	no_errors	ENST00000338005	ensembl	human	known	74_37	missense	32.73		SNP	0.006	A	18	37
TJAP1	93643	genome.wustl.edu	37	6	43472881	43472881	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:43472881C>T	ENST00000372445.5	+	11	1338	c.962C>T	c.(961-963)cCa>cTa	p.P321L	TJAP1_ENST00000372452.1_Missense_Mutation_p.P311L|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.P321L|TJAP1_ENST00000436109.2_Missense_Mutation_p.P311L|TJAP1_ENST00000259751.1_Missense_Mutation_p.P311L|TJAP1_ENST00000438588.2_Missense_Mutation_p.P321L|TJAP1_ENST00000372444.2_Missense_Mutation_p.P311L	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	321	Pro-rich.				Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACCCCGTCTCCACCACACCCA	0.612													ENSG00000137221																																					0													71.0	80.0	77.0					6																	43472881		2203	4300	6503	SO:0001583	missense	0			-	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.962C>T	6.37:g.43472881C>T	ENSP00000361522:p.Pro321Leu		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	NULL	p.P321L	ENST00000372445.5	37	c.962	CCDS55004.1	6	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999408	0.54147	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.81	4.95	0.65309	.	0.095705	0.64402	N	0.000001	T	0.52025	0.1709	M	0.73962	2.25	0.80722	D	1	B;B	0.26258	0.145;0.145	B;B	0.27887	0.084;0.084	T	0.60637	-0.7224	9	0.87932	D	0	-8.7542	14.6717	0.68948	0.0:0.9306:0.0:0.0694	.	321;311	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	L	311;321;311;311;311;311;321;321	.	ENSP00000259751:P311L	P	+	2	0	TJAP1	43580859	0.960000	0.32886	0.804000	0.32291	0.971000	0.66376	3.604000	0.54081	1.457000	0.47850	0.655000	0.94253	CCA	-	TJAP1	-	NULL		0.612	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	HGNC	protein_coding	OTTHUMT00000040629.1	0	0		57	57		0.00		C	NM_080604		43472881	+1	36		50		tier1	no_errors	ENST00000372445	ensembl	human	known	74_37	missense	41.86		SNP	0.977	T	36	50
SETD1A	9739	genome.wustl.edu	37	16	30977488	30977488	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30977488C>T	ENST00000262519.8	+	8	2972	c.2286C>T	c.(2284-2286)tcC>tcT	p.S762S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	762					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGCCCTCCTCCTCAGTCTCGG	0.672													ENSG00000099381																																					0													17.0	19.0	19.0					16																	30977488		2176	4255	6431	SO:0001819	synonymous_variant	0			-	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2286C>T	16.37:g.30977488C>T			A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S762	ENST00000262519.8	37	c.2286	CCDS32435.1	16																																																																																			-	SETD1A	-	NULL		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	0	0		18	18		0.00		C	NM_014712		30977488	+1	14		24		tier1	no_errors	ENST00000262519	ensembl	human	known	74_37	silent	36.84		SNP	0.999	T	14	24
BPTF	2186	genome.wustl.edu	37	17	65862671	65862671	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:65862671G>A	ENST00000321892.4	+	3	1589	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	BPTF_ENST00000335221.5_Missense_Mutation_p.D510N|BPTF_ENST00000424123.3_Missense_Mutation_p.D371N|BPTF_ENST00000306378.6_Missense_Mutation_p.D510N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	510					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)			TCTAGACAAAGATTATTGGGA	0.373													ENSG00000171634																																					0													84.0	94.0	90.0					17																	65862671		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.1528G>A	17.37:g.65862671G>A	ENSP00000315454:p.Asp510Asn		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.D510N	ENST00000321892.4	37	c.1528		17	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173786	0.38413	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.61392	0.13;0.11;0.11	5.73	5.73	0.89815	.	.	.	.	.	T	0.42585	0.1209	N	0.25647	0.755	0.24776	N	0.992841	B;P;P	0.43352	0.039;0.774;0.804	B;B;B	0.41571	0.014;0.299;0.36	T	0.34329	-0.9833	9	0.02654	T	1	.	13.1385	0.59423	0.0728:0.0:0.9271:0.0	.	510;510;510	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	N	415;510;510;510;371	ENSP00000307208:D510N;ENSP00000334351:D510N;ENSP00000315454:D510N	ENSP00000307208:D510N	D	+	1	0	BPTF	63293133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.496000	0.53288	2.700000	0.92200	0.655000	0.94253	GAT	-	BPTF	-	NULL		0.373	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		0	0		77	77		0.00		G	NM_182641, NM_004459		65862671	+1	29		48		tier1	no_errors	ENST00000321892	ensembl	human	known	74_37	missense	37.66		SNP	1.000	A	29	48
NLRP7	199713	genome.wustl.edu	37	19	55450872	55450872	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55450872C>T	ENST00000590030.1	-	3	1355	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	NLRP7_ENST00000588756.1_Missense_Mutation_p.G439R|NLRP7_ENST00000592784.1_Missense_Mutation_p.G439R|NLRP7_ENST00000328092.5_Missense_Mutation_p.G439R|NLRP7_ENST00000448121.2_Missense_Mutation_p.G439R|NLRP7_ENST00000340844.2_Missense_Mutation_p.G439R|NLRP7_ENST00000446217.1_Missense_Mutation_p.G467R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.G439W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCTGCACCCCGAGCCTTTCC	0.662													ENSG00000167634																																					2	Substitution - Missense(2)	lung(2)											39.0	34.0	36.0					19																	55450872		2203	4300	6503	SO:0001583	missense	0			-	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1315G>A	19.37:g.55450872C>T	ENSP00000465520:p.Gly439Arg		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.G467R	ENST00000590030.1	37	c.1399	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032688	0.35893	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.80214	-1.29;-1.29;-1.35;-1.34	2.16	1.1	0.20463	.	0.818060	0.09989	N	0.730008	T	0.79907	0.4527	L	0.52759	1.655	0.09310	N	1	D;D;D;D	0.63046	0.986;0.986;0.986;0.992	P;P;P;P	0.54100	0.699;0.557;0.557;0.742	T	0.66504	-0.5907	10	0.51188	T	0.08	.	4.8696	0.13625	0.0:0.8193:0.0:0.1807	.	467;439;439;439	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	439;439;439;467;206	ENSP00000329568:G439R;ENSP00000409137:G439R;ENSP00000339491:G439R;ENSP00000414273:G467R	ENSP00000329568:G439R	G	-	1	0	NLRP7	60142684	0.000000	0.05858	0.035000	0.18076	0.029000	0.11900	0.688000	0.25422	0.477000	0.27464	0.462000	0.41574	GGG	-	NLRP7	-	NULL		0.662	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	0	0		35	35		0.00		C	NM_139176		55450872	-1	14		30		tier1	no_errors	ENST00000446217	ensembl	human	known	74_37	missense	31.82		SNP	0.011	T	14	30
SMARCAD1	56916	genome.wustl.edu	37	4	95194791	95194791	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:95194791C>T	ENST00000354268.4	+	12	1669	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	SMARCAD1_ENST00000509418.1_Silent_p.A102A|SMARCAD1_ENST00000457823.2_Silent_p.A532A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	532	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CTATTCAAGCCATTGCATTTC	0.318													ENSG00000163104																																					0													103.0	96.0	98.0					4																	95194791		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1596C>T	4.37:g.95194791C>T			B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A532	ENST00000354268.4	37	c.1596	CCDS3639.1	4																																																																																			-	SMARCAD1	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.318	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	0	0		69	69		0.00		C	NM_020159		95194791	+1	32		61		tier1	no_errors	ENST00000359052	ensembl	human	known	74_37	silent	34.41		SNP	0.935	T	32	61
CYP27C1	339761	genome.wustl.edu	37	2	127957113	127957113	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:127957113G>T	ENST00000335247.7	-	4	521	c.391C>A	c.(391-393)Caa>Aaa	p.Q131K	CYP27C1_ENST00000409327.1_Missense_Mutation_p.Q131K	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	131						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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ACATGAATTTGGCCTGTTTGA	0.468													ENSG00000186684																																					0													88.0	78.0	81.0					2																	127957113		2203	4300	6503	SO:0001583	missense	0			-	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.391C>A	2.37:g.127957113G>T	ENSP00000334128:p.Gln131Lys		Q6ZNI7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.Q131K	ENST00000335247.7	37	c.391	CCDS33285.1	2	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461969	0.04508	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.67865	-0.29;-0.29	4.27	3.36	0.38483	.	0.360298	0.25958	N	0.027209	T	0.44244	0.1284	N	0.13098	0.295	0.34914	D	0.74773	B	0.06786	0.001	B	0.09377	0.004	T	0.45789	-0.9237	10	0.02654	T	1	0.4377	13.8055	0.63227	0.0:0.1549:0.8451:0.0	.	131	Q4G0S4	C27C1_HUMAN	K	131	ENSP00000334128:Q131K;ENSP00000387198:Q131K	ENSP00000334128:Q131K	Q	-	1	0	CYP27C1	127673583	1.000000	0.71417	0.983000	0.44433	0.908000	0.53690	2.931000	0.48932	0.737000	0.32582	0.563000	0.77884	CAA	-	CYP27C1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.468	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27C1	HGNC	protein_coding	OTTHUMT00000331046.1	0	0		53	53		0.00		G	NM_001001665		127957113	-1	8		50		tier1	no_errors	ENST00000335247	ensembl	human	known	74_37	missense	13.79		SNP	0.992	T	8	50
ZNF551	90233	genome.wustl.edu	37	19	58198800	58198800	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:58198800C>T	ENST00000282296.5	+	3	1342	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S370F|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	386					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAGTTCACTCTGGAGAAAGG	0.448													ENSG00000204519																																					0													78.0	81.0	80.0					19																	58198800		2203	4300	6503	SO:0001583	missense	0			-	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1157C>T	19.37:g.58198800C>T	ENSP00000282296:p.Ser386Phe		B4DU22|P17034|Q8N246|Q9BRY1	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.S386F	ENST00000282296.5	37	c.1157	CCDS12959.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.88|14.88	2.668100|2.668100	0.47677|0.47677	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.6|2.6	1.55|1.55	0.23275|0.23275	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.800241|.	0.10889|.	U|.	0.622926|.	T|T	0.47911|0.47911	0.1471|0.1471	M|M	0.70787|0.70787	2.145|2.145	0.27148|0.27148	N|N	0.961491|0.961491	.|P	.|0.42203	.|0.773	.|P	.|0.46940	.|0.532	T|T	0.42632|0.42632	-0.9440|-0.9440	7|8	0.06625|0.87932	T|D	0.88|0	.|.	8.3031|8.3031	0.32025|0.32025	0.0:0.8721:0.0:0.1279|0.0:0.8721:0.0:0.1279	.|.	.|386	.|Q7Z340	.|ZN551_HUMAN	K|F	202|386;370;169	.|.	ENSP00000437781:R202K|ENSP00000282296:S370F	R|S	-|+	2|2	0|0	AC004017.1|ZNF551	62890612|62890612	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.190000|0.190000	0.23558|0.23558	1.026000|1.026000	0.30103|0.30103	0.428000|0.428000	0.26173|0.26173	0.561000|0.561000	0.74099|0.74099	AGA|TCT	-	ZNF551	-	pfscan_Znf_C2H2		0.448	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	0	0		55	55		0.00		C	NM_138347		58198800	+1	30		28		tier1	no_errors	ENST00000282296	ensembl	human	known	74_37	missense	51.72		SNP	1.000	T	30	28
GRM6	2916	genome.wustl.edu	37	5	178413706	178413706	+	Silent	SNP	G	G	A	rs145771507	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:178413706G>A	ENST00000517717.1	-	9	1587	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.L517L			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	517					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGGCTGCACAGAGACGAGGGC	0.692													ENSG00000113262																																					0								G		9,4397	17.9+/-39.9	0,9,2194	31.0	32.0	31.0		1549	3.8	0.9	5	dbSNP_134	31	0,8596		0,0,4298	no	coding-synonymous	GRM6	NM_000843.3		0,9,6492	AA,AG,GG		0.0,0.2043,0.0692		517/878	178413706	9,12993	2203	4298	6501	SO:0001819	synonymous_variant	0			-	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1549C>T	5.37:g.178413706G>A				Silent	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,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.L517	ENST00000517717.1	37	c.1549	CCDS4442.1	5																																																																																			rs145771507	GRM6	-	pfam_GPCR_3_9-Cys_dom		0.692	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	0	0		28	28		0.00		G			178413706	-1	15		23		tier1	no_errors	ENST00000231188	ensembl	human	known	74_37	silent	39.47		SNP	1.000	A	15	23
R3HDM1	23518	genome.wustl.edu	37	2	136418865	136418865	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:136418865G>A	ENST00000264160.4	+	18	2319	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D	R3HDM1_ENST00000410054.1_Missense_Mutation_p.G595D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G522D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.G521D|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G651D	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	650							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TGCGCTCCAGGCCACTATCAC	0.448													ENSG00000048991																																					0													153.0	133.0	139.0					2																	136418865		2203	4300	6503	SO:0001583	missense	0			-	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1949G>A	2.37:g.136418865G>A	ENSP00000264160:p.Gly650Asp		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G650D	ENST00000264160.4	37	c.1949	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759533	0.69763	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.65	5.65	0.86999	.	0.451023	0.24879	N	0.034873	T	0.51822	0.1697	M	0.72118	2.19	0.34875	D	0.744045	P;P;P;P	0.49253	0.921;0.722;0.666;0.666	P;B;B;B	0.46479	0.518;0.169;0.194;0.115	T	0.67003	-0.5780	10	0.51188	T	0.08	-2.0174	10.2722	0.43489	0.1485:0.0:0.8515:0.0	.	522;651;595;650	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	D	522;650;521;595;651	ENSP00000386457:G522D;ENSP00000264160:G650D;ENSP00000331396:G521D;ENSP00000386877:G595D;ENSP00000387010:G651D	ENSP00000264160:G650D	G	+	2	0	R3HDM1	136135335	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.013000	0.49582	2.634000	0.89283	0.557000	0.71058	GGC	-	R3HDM1	-	NULL		0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	0	0		66	66		0.00		G	NM_015361		136418865	+1	22		48		tier1	no_errors	ENST00000264160	ensembl	human	known	74_37	missense	30.14		SNP	1.000	A	22	48
CD163L1	283316	genome.wustl.edu	37	12	7556137	7556137	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7556137A>G	ENST00000313599.3	-	6	1459	c.1402T>C	c.(1402-1404)Tgt>Cgt	p.C468R	CD163L1_ENST00000396630.1_Missense_Mutation_p.C468R|CD163L1_ENST00000416109.2_Missense_Mutation_p.C478R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	468	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTACCAGAACAAATTACTCCA	0.393													ENSG00000177675																																					0													78.0	76.0	77.0					12																	7556137		2203	4300	6503	SO:0001583	missense	0			-	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1402T>C	12.37:g.7556137A>G	ENSP00000315945:p.Cys468Arg		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.C468R	ENST00000313599.3	37	c.1402	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274751	0.59649	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72	2.01	2.01	0.26516	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.97829	0.9287	H	0.94698	3.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97111	0.9804	9	0.87932	D	0	.	7.9359	0.29929	1.0:0.0:0.0:0.0	.	478;468	E7EVK4;Q9NR16	.;C163B_HUMAN	R	468;478;468;114	ENSP00000315945:C468R;ENSP00000393474:C478R;ENSP00000379871:C468R;ENSP00000439921:C114R	ENSP00000315945:C468R	C	-	1	0	CD163L1	7447404	1.000000	0.71417	0.137000	0.22149	0.528000	0.34623	8.039000	0.88947	1.154000	0.42482	0.460000	0.39030	TGT	-	CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.393	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	0	0		26	26		0.00		A	NM_174941		7556137	-1	9		12		tier1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	42.86		SNP	0.969	G	9	12
TRMT10A	93587	genome.wustl.edu	37	4	100480405	100480405	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:100480405G>A	ENST00000273962.3	-	2	403	c.91C>T	c.(91-93)Cca>Tca	p.P31S	TRMT10A_ENST00000394877.3_Missense_Mutation_p.P31S|TRMT10A_ENST00000394876.2_Missense_Mutation_p.P31S	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	31					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CCTAATCTTGGCTTCTGGCTC	0.378													ENSG00000145331																																					0													249.0	228.0	235.0					4																	100480405		2203	4299	6502	SO:0001583	missense	0			-	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.91C>T	4.37:g.100480405G>A	ENSP00000273962:p.Pro31Ser		B2R8X7|Q9Y2T9	Missense_Mutation	SNP	pfam_tR_m1G_MeTrfase,pirsf_tR_MeTfrase_TRM10	p.P31S	ENST00000273962.3	37	c.91	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	G	6.513	0.462944	0.12402	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.46063	2.25;2.25;2.25;1.49;0.88	5.65	3.93	0.45458	.	1.818770	0.02563	N	0.097018	T	0.31451	0.0797	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16394	-1.0404	10	0.24483	T	0.36	-0.3638	6.5265	0.22305	0.2149:0.1483:0.6368:0.0	.	31	Q8TBZ6	RG9D2_HUMAN	S	31	ENSP00000378343:P31S;ENSP00000273962:P31S;ENSP00000378342:P31S;ENSP00000397551:P31S;ENSP00000423628:P31S	ENSP00000273962:P31S	P	-	1	0	RG9MTD2	100699428	0.216000	0.23585	0.354000	0.25760	0.391000	0.30476	0.691000	0.25467	1.393000	0.46605	-0.137000	0.14449	CCA	-	TRMT10A	-	pirsf_tR_MeTfrase_TRM10		0.378	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	0	0		68	68		0.00		G	NM_152292		100480405	-1	21		54		tier1	no_errors	ENST00000273962	ensembl	human	known	74_37	missense	28.00		SNP	0.083	A	21	54
CD163	9332	genome.wustl.edu	37	12	7640459	7640459	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7640459C>T	ENST00000359156.4	-	7	1847	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	CD163_ENST00000396620.3_Missense_Mutation_p.G549R|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.G537R|CD163_ENST00000432237.2_Missense_Mutation_p.G549R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	549	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GACTCATGTCCCTCACACTGG	0.527													ENSG00000177575																																					0													108.0	97.0	101.0					12																	7640459		2203	4300	6503	SO:0001583	missense	0			-	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1645G>A	12.37:g.7640459C>T	ENSP00000352071:p.Gly549Arg		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G549R	ENST00000359156.4	37	c.1645	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432030	0.62844	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.33	5.33	0.75918	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	H	0.95437	3.67	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83045	-0.0155	10	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	549;549;549	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	549;537;549;549	ENSP00000352071:G549R;ENSP00000444071:G537R;ENSP00000379863:G549R;ENSP00000403885:G549R	ENSP00000352071:G549R	G	-	1	0	CD163	7531726	1.000000	0.71417	0.129000	0.21949	0.257000	0.26127	5.878000	0.69682	2.663000	0.90544	0.655000	0.94253	GGA	-	CD163	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.527	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	0	0		66	66		0.00		C	NM_004244, NM_203416		7640459	-1	12		51		tier1	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	19.05		SNP	0.998	T	12	51
MGLL	11343	genome.wustl.edu	37	3	127434382	127434382	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:127434382C>T	ENST00000434178.2	-	6	1377				MGLL_ENST00000398104.1_Intron|MGLL_ENST00000265052.5_Intron|MGLL_ENST00000476682.1_5'Flank|MGLL_ENST00000398101.3_Intron|MGLL_ENST00000453507.2_Intron			Q99685	MGLL_HUMAN	monoglyceride lipase						acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GATCCCCTTTCCCTGCTGCTC	0.473													ENSG00000074416																																					0																																										SO:0001627	intron_variant	0			-	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.481-4874G>A	3.37:g.127434382C>T			B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	R	SNP	-	NULL	ENST00000434178.2	37	NULL	CCDS43148.1	3																																																																																			-	MGLL	-	-		0.473	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGLL	HGNC	protein_coding	OTTHUMT00000356637.2	0	0		22	22		0.00		C	NM_007283		127434382	-1	8		11		tier1	no_errors	ENST00000479967	ensembl	human	known	74_37	rna	42.11		SNP	0.002	T	8	11
RBM33	155435	genome.wustl.edu	37	7	155473578	155473578	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:155473578C>T	ENST00000401878.3	+	5	741	c.543C>T	c.(541-543)atC>atT	p.I181I	RBM33_ENST00000287912.3_Silent_p.I181I|RBM33_ENST00000392759.3_Silent_p.I181I	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	181	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ACATCGAGATCAATGAACCTT	0.418													ENSG00000184863																																					0													90.0	87.0	88.0					7																	155473578		1937	4146	6083	SO:0001819	synonymous_variant	0			-	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.543C>T	7.37:g.155473578C>T			A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	smart_RRM_dom	p.I181	ENST00000401878.3	37	c.543	CCDS5941.2	7																																																																																			-	RBM33	-	NULL		0.418	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	0	0		41	41		0.00		C	NM_001008408		155473578	+1	20		42		tier1	no_errors	ENST00000401878	ensembl	human	known	74_37	silent	32.26		SNP	1.000	T	20	42
ZNF90	7643	genome.wustl.edu	37	19	20228946	20228946	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:20228946C>T	ENST00000418063.2	+	4	695	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	195					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TAAGAAAATTCATACTGGAGA	0.388													ENSG00000213988																																					0													26.0	25.0	26.0					19																	20228946		692	1591	2283	SO:0001583	missense	0			-	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.583C>T	19.37:g.20228946C>T	ENSP00000410466:p.His195Tyr		B9EH87	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.H195Y	ENST00000418063.2	37	c.583	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	C	6.816	0.519618	0.13005	.	.	ENSG00000213988	ENST00000418063	T	0.28895	1.59	1.18	-0.165	0.13355	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56187	0.1968	H	0.96398	3.815	0.23449	N	0.997657	D	0.67145	0.996	P	0.57152	0.814	T	0.50294	-0.8845	8	.	.	.	.	5.4447	0.16529	0.0:0.7674:0.0:0.2326	.	195	Q03938	ZNF90_HUMAN	Y	195	ENSP00000410466:H195Y	.	H	+	1	0	ZNF90	20089946	0.156000	0.22821	0.017000	0.16124	0.017000	0.09413	1.974000	0.40559	-0.722000	0.04922	-0.708000	0.03648	CAT	-	ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	0	0		53	53		0.00		C	NM_007138		20228946	+1	13		56		tier1	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	18.84		SNP	0.974	T	13	56
OTOF	9381	genome.wustl.edu	37	2	26697461	26697461	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:26697461G>A	ENST00000272371.2	-	26	3334	c.3208C>T	c.(3208-3210)Cca>Tca	p.P1070S	OTOF_ENST00000338581.6_Missense_Mutation_p.P323S|OTOF_ENST00000402415.3_Missense_Mutation_p.P380S|OTOF_ENST00000403946.3_Missense_Mutation_p.P1070S|OTOF_ENST00000339598.3_Missense_Mutation_p.P323S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1070					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGAGGTGGGAAGCGGGGT	0.627													ENSG00000115155																									GBM(102;732 1451 20652 24062 31372)												0													84.0	71.0	76.0					2																	26697461		2203	4300	6503	SO:0001583	missense	0			-	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3208C>T	2.37:g.26697461G>A	ENSP00000272371:p.Pro1070Ser		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P1070S	ENST00000272371.2	37	c.3208	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	g	27.6	4.845442	0.91197	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.58	4.7	0.59300	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.82793	0.5114	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.995	D;D;D;D	0.87578	0.997;0.979;0.998;0.948	D	0.85604	0.1254	10	0.66056	D	0.02	-31.1811	15.5065	0.75745	0.0:0.0:0.8603:0.1397	.	1070;323;380;323	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	323;323;380;1070;1070	ENSP00000345137:P323S;ENSP00000344521:P323S;ENSP00000383906:P380S;ENSP00000272371:P1070S;ENSP00000385255:P1070S	ENSP00000272371:P1070S	P	-	1	0	OTOF	26550965	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.925000	0.87563	1.354000	0.45846	0.556000	0.70494	CCA	-	OTOF	-	superfamily_C2_dom		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	0	0		45	45		0.00		G			26697461	-1	25		39		tier1	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	39.06		SNP	1.000	A	25	39
SEC14L1	6397	genome.wustl.edu	37	17	75186902	75186902	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:75186902C>T	ENST00000413679.2	+	4	384	c.81C>T	c.(79-81)ttC>ttT	p.F27F	SEC14L1_ENST00000392476.2_Silent_p.F27F|SEC14L1_ENST00000591437.1_5'UTR|SEC14L1_ENST00000436233.4_Silent_p.F27F|SEC14L1_ENST00000430767.4_Silent_p.F27F|SEC14L1_ENST00000431431.2_5'UTR|SEC14L1_ENST00000585618.1_Silent_p.F27F|SEC14L1_ENST00000443798.4_Silent_p.F27F	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	27	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAAGGAGGTTCCCTACATGTC	0.463													ENSG00000129657																																					0													98.0	89.0	92.0					17																	75186902		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.81C>T	17.37:g.75186902C>T			A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.F27	ENST00000413679.2	37	c.81	CCDS11752.1	17																																																																																			-	SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1		0.463	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	0	0		41	41		0.00		C	NM_003003		75186902	+1	27		46		tier1	no_errors	ENST00000392476	ensembl	human	known	74_37	silent	36.99		SNP	0.998	T	27	46
ZNF763	284390	genome.wustl.edu	37	19	12087855	12087855	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12087855C>T	ENST00000358987.3	+	2	133	c.6C>T	c.(4-6)gaC>gaT	p.D2D	ZNF763_ENST00000592625.1_Silent_p.D2D|ZNF763_ENST00000590798.1_Silent_p.D22D|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000538752.1_Silent_p.D22D|ZNF763_ENST00000343949.5_Silent_p.D5D|ZNF763_ENST00000591944.1_Silent_p.D71D			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGTTTCAGGACCCTGTGGCCT	0.517													ENSG00000267179																																					0													115.0	116.0	116.0					19																	12087855		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.6C>T	19.37:g.12087855C>T			B3KRU3|B4DRE7	Missense_Mutation	SNP	NULL	p.T55I	ENST00000358987.3	37	c.164		19																																																																																			-	ZNF763	-	NULL		0.517	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	Uniprot_gn	protein_coding	OTTHUMT00000344158.1	0	0		148	148		0.00		C	NM_001012753		12087855	+1	31		123		tier1	no_errors	ENST00000591441	ensembl	human	known	74_37	missense	20.13		SNP	0.167	T	31	123
ZNF232	7775	genome.wustl.edu	37	17	5009422	5009422	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:5009422T>C	ENST00000250076.3	-	5	1686	c.1032A>G	c.(1030-1032)tcA>tcG	p.S344S	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000575898.1_Silent_p.S335S	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	317					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GACCGAGGTTTGAGCTCTGTT	0.438													ENSG00000167840																																					0													113.0	115.0	114.0					17																	5009422		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1032A>G	17.37:g.5009422T>C				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S344	ENST00000250076.3	37	c.1032	CCDS11068.1	17																																																																																			-	ZNF232	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF232	HGNC	protein_coding	OTTHUMT00000216915.1	0	0		63	63		0.00		T	NM_014519		5009422	-1	20		63		tier1	no_errors	ENST00000250076	ensembl	human	known	74_37	silent	24.10		SNP	0.907	C	20	63
RP11-24M17.5	0	genome.wustl.edu	37	15	76074645	76074645	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:76074645C>T	ENST00000395215.3	+	0	717				RN7SL319P_ENST00000480656.2_RNA																							TAAACAAGTCCAGCTAGAGAG	0.527													ENSG00000187812																																					0																																												0			-																													15.37:g.76074645C>T				R	SNP	-	NULL	ENST00000395215.3	37	NULL		15	.	.	.	.	.	.	.	.	.	.	.	2.559	-0.302211	0.05495	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.9805	0.09493	0.4119:0.588:0.0:0.0	.	.	.	.	X	226	.	ENSP00000378641:Q226X	Q	+	1	0	AC019294.2	73861700	0.863000	0.29885	0.014000	0.15608	0.005000	0.04900	0.847000	0.27696	0.745000	0.32763	0.274000	0.19336	CAG	-	RP11-24M17.5	-	-		0.527	RP11-24M17.5-001	KNOWN	basic	processed_transcript	ENSG00000187812	Clone_based_vega_gene	pseudogene	OTTHUMT00000420501.1	0	0		201	201		0.00		C			76074645	+1	75		61		tier1	no_errors	ENST00000395215	ensembl	human	known	74_37	rna	55.15		SNP	0.391	T	75	61
MLC1	23209	genome.wustl.edu	37	22	50506973	50506973	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:50506973C>T	ENST00000311597.5	-	10	1389	c.783G>A	c.(781-783)ctG>ctA	p.L261L	MLC1_ENST00000450140.2_Silent_p.L209L|MLC1_ENST00000395876.2_Silent_p.L261L|MLC1_ENST00000431262.2_Silent_p.L231L|MLC1_ENST00000535444.1_Silent_p.L182L|MLC1_ENST00000538737.1_Silent_p.L227L|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	261					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TTATGGCAATCAGGACCTCCA	0.607													ENSG00000100427																																					0													96.0	99.0	98.0					22																	50506973		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.783G>A	22.37:g.50506973C>T			B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	NULL	p.L261	ENST00000311597.5	37	c.783	CCDS14083.1	22																																																																																			-	MLC1	-	NULL		0.607	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLC1	HGNC	protein_coding	OTTHUMT00000316979.2	0	0		67	67		0.00		C	NM_015166		50506973	-1	19		68		tier1	no_errors	ENST00000311597	ensembl	human	known	74_37	silent	21.84		SNP	1.000	T	19	68
ZHX1	11244	genome.wustl.edu	37	8	124268229	124268229	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:124268229C>T	ENST00000522655.1	-	0	498				ZHX1_ENST00000297857.2_5'UTR|ZHX1_ENST00000522595.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_5'UTR			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1						cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TAAAAAGCATCGAGGCTTAAA	0.403													ENSG00000165156																																					0													72.0	67.0	69.0					8																	124268229		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.-43G>A	8.37:g.124268229C>T			Q8IWD8	R	SNP	-	NULL	ENST00000522655.1	37	NULL	CCDS6342.1	8																																																																																			-	ZHX1	-	-		0.403	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	0	0		39	39		0.00		C			124268229	-1	25		52		tier1	no_errors	ENST00000522595	ensembl	human	known	74_37	rna	32.47		SNP	0.000	T	25	52
TXNRD1	7296	genome.wustl.edu	37	12	104714905	104714905	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:104714905G>A	ENST00000529546.1	+	7	687	c.462G>A	c.(460-462)aaG>aaA	p.K154K	TXNRD1_ENST00000378070.4_Silent_p.K291K|TXNRD1_ENST00000427956.1_Silent_p.K307K|TXNRD1_ENST00000388854.3_Silent_p.K244K|TXNRD1_ENST00000540716.1_Silent_p.K154K|TXNRD1_ENST00000503506.2_Silent_p.K192K|TXNRD1_ENST00000429002.2_Silent_p.K342K|TXNRD1_ENST00000526691.1_Silent_p.K244K|TXNRD1_ENST00000397736.2_Silent_p.K236K|TXNRD1_ENST00000526390.1_Silent_p.K236K|TXNRD1_ENST00000542918.1_Silent_p.K242K|TXNRD1_ENST00000526950.1_Silent_p.K261K|TXNRD1_ENST00000354940.6_Silent_p.K192K|TXNRD1_ENST00000525566.1_Silent_p.K342K|TXNRD1_ENST00000524698.1_Silent_p.K192K			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	342	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GCCCGGGTAAGACCCTGGTTG	0.398													ENSG00000198431																									Ovarian(139;555 1836 9186 9946 10884)												0													288.0	259.0	268.0					12																	104714905		1890	4113	6003	SO:0001819	synonymous_variant	0			-		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.462G>A	12.37:g.104714905G>A			B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/D-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.K342	ENST00000529546.1	37	c.1026	CCDS58274.1	12																																																																																			-	TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase		0.398	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	0	0		46	46		0.00		G	NM_003330		104714905	+1	11		32		tier1	no_errors	ENST00000429002	ensembl	human	known	74_37	silent	25.58		SNP	1.000	A	11	32
SH3RF2	153769	genome.wustl.edu	37	5	145439745	145439745	+	Silent	SNP	C	C	T	rs142977207		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:145439745C>T	ENST00000511217.1	+	8	1924	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.S624S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	624					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCACCATCCATCCTGGTGA	0.522													ENSG00000156463																																					0								C		1,4405	2.1+/-5.4	0,1,2202	66.0	71.0	69.0		1872	-11.5	0.0	5	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	SH3RF2	NM_152550.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		624/730	145439745	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1872C>T	5.37:g.145439745C>T			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.S624	ENST00000511217.1	37	c.1872	CCDS4280.1	5																																																																																			rs142977207	SH3RF2	-	NULL		0.522	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	0	0		112	112		0.00		C	NM_152550		145439745	+1	53		120		tier1	no_errors	ENST00000359120	ensembl	human	known	74_37	silent	30.64		SNP	0.032	T	53	120
ADAM6	8755	genome.wustl.edu	37	14	106437810	106437810	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:106437810C>T	ENST00000452053.1	-	0	548					NR_002224.2				ADAM metallopeptidase domain 6, pseudogene																		GGTTTGATTTCGTACGCAAGG	0.547													ENSG00000233988																																					0																																												0			-	AI024595		14q32.33	2013-09-05	2012-08-22		ENSG00000233988	ENSG00000271968		"""ADAM metallopeptidase domain containing"""	213	pseudogene	pseudogene			"""chromosome 14 open reading frame 96"", ""a disintegrin and metalloproteinase domain 6"", ""ADAM metallopeptidase domain 6"""	C14orf96			Standard	NR_002224		Approved	tMDCIV	uc001ysu.1		OTTHUMG00000152319		14.37:g.106437810C>T				R	SNP	-	NULL	ENST00000452053.1	37	NULL		14																																																																																			-	ADAM6	-	-		0.547	ADAM6-001	KNOWN	basic	lincRNA	ADAM6	HGNC	lincRNA	OTTHUMT00000325881.1	0	0		51	51		0.00		C	NR_002224		106437810	-1	28		26		tier1	no_errors	ENST00000452053	ensembl	human	known	74_37	rna	51.85		SNP	0.984	T	28	26
HBG1	3047	genome.wustl.edu	37	11	5269676	5269676	+	Silent	SNP	G	G	A	rs374656432		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5269676G>A	ENST00000330597.3	-	3	444	c.357C>T	c.(355-357)ttC>ttT	p.F119F	CTD-2643I7.1_ENST00000564523.1_RNA	NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	119					blood coagulation (GO:0007596)	cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCTTTGCCGAAATGGATTG	0.527													ENSG00000213934																									Ovarian(117;2080 2193 33416 49679)												0								A		0,4402		0,0,2201	50.0	49.0	49.0		357	-0.0	0.0	11		49	1,8587	817.8+/-406.9	0,1,4293	no	coding-synonymous	HBG1	NM_000559.2		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		119/148	5269676	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	0			-	M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.357C>T	11.37:g.5269676G>A			P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.F119	ENST00000330597.3	37	c.357	CCDS7754.1	11																																																																																			-	HBG1	-	superfamily_Globin-like,pfscan_Globin		0.527	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG1	HGNC	protein_coding	OTTHUMT00000142982.1	0	0		64	64		0.00		G	NM_000559		5269676	-1	15		116		tier1	no_errors	ENST00000330597	ensembl	human	known	74_37	silent	11.45		SNP	0.003	A	15	116
ADORA3	140	genome.wustl.edu	37	1	112045802	112045802	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:112045802T>C	ENST00000241356.4	-	1	580	c.175A>G	c.(175-177)Att>Gtt	p.I59V	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.I59V	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	59					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CCAACAGCAATGTCAGCCAGG	0.527													ENSG00000121933																																					0													98.0	74.0	82.0					1																	112045802		2203	4300	6503	SO:0001583	missense	0			-	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.175A>G	1.37:g.112045802T>C	ENSP00000241356:p.Ile59Val		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn	p.I59V	ENST00000241356.4	37	c.175	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.224890	0.39300	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.40225	1.04;1.04	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.139502	0.33346	N	0.005009	T	0.41073	0.1143	L	0.48986	1.54	0.37049	D	0.897511	D;B	0.58620	0.983;0.062	D;B	0.63033	0.91;0.025	T	0.35699	-0.9778	10	0.28530	T	0.3	-11.0837	10.5917	0.45314	0.1438:0.0:0.0:0.8562	.	59;59	P33765;P33765-2	AA3R_HUMAN;.	V	59	ENSP00000358730:I59V;ENSP00000241356:I59V	ENSP00000241356:I59V	I	-	1	0	ADORA3	111847325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.618000	0.61211	2.112000	0.64535	0.459000	0.35465	ATT	-	ADORA3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033065.1	0	0		44	44		0.00		T	NM_000677, NM_020683		112045802	-1	21		52		tier1	no_errors	ENST00000369716	ensembl	human	known	74_37	missense	28.77		SNP	1.000	C	21	52
SRPX	8406	genome.wustl.edu	37	X	38033465	38033465	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:38033465G>A	ENST00000378533.3	-	3	403	c.297C>T	c.(295-297)tcC>tcT	p.S99S	SRPX_ENST00000343800.6_Silent_p.S86S|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Silent_p.S99S|SRPX_ENST00000544439.1_Silent_p.S79S|SRPX_ENST00000432886.2_Silent_p.S99S	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	99	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						AGATCAGTAGGGAAGAGCCAT	0.547													ENSG00000101955																																					0													155.0	114.0	128.0					X																	38033465		2202	4300	6502	SO:0001819	synonymous_variant	0			-	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.297C>T	X.37:g.38033465G>A			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.S99	ENST00000378533.3	37	c.297	CCDS14245.1	X																																																																																			-	SRPX	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.547	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	0	0		28	28		0.00		G	NM_006307		38033465	-1	36		15		tier1	no_errors	ENST00000378533	ensembl	human	known	74_37	silent	70.59		SNP	0.855	A	36	15
TTLL10	254173	genome.wustl.edu	37	1	1111580	1111580	+	Intron	SNP	G	G	A	rs376074660		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:1111580G>A	ENST00000379290.1	+	3	146				TTLL10_ENST00000379289.1_Intron|TTLL10-AS1_ENST00000379317.1_RNA			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGCCGGTGGAGAGGCTGCT	0.672													ENSG00000205231																																					0																																										SO:0001627	intron_variant	0			-	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.-28+1711G>A	1.37:g.1111580G>A			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	R	SNP	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			-	TTLL10-AS1	-	-		0.672	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	0	0		93	93		0.00		G	NM_153254		1111580	-1	38		112		tier1	no_errors	ENST00000379317	ensembl	human	known	74_37	rna	25.33		SNP	0.942	A	38	112
SLC6A17	388662	genome.wustl.edu	37	1	110709708	110709708	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110709708G>A	ENST00000331565.4	+	2	642	c.157G>A	c.(157-159)Gag>Aag	p.E53K	RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	53					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCGGTGGAGGAGGAGCTGGA	0.617													ENSG00000197106																																					0													68.0	55.0	60.0					1																	110709708		2203	4300	6503	SO:0001583	missense	0			-		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.157G>A	1.37:g.110709708G>A	ENSP00000330199:p.Glu53Lys		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.E53K	ENST00000331565.4	37	c.157	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432420	0.25813	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74002	-0.8	4.49	3.57	0.40892	.	0.218742	0.37809	N	0.001934	T	0.37128	0.0992	L	0.29908	0.895	0.29749	N	0.836526	B	0.12013	0.005	B	0.09377	0.004	T	0.12760	-1.0535	10	0.10636	T	0.68	.	10.6099	0.45415	0.09:0.0:0.91:0.0	.	53	Q9H1V8	S6A17_HUMAN	K	53	ENSP00000330199:E53K	ENSP00000330199:E53K	E	+	1	0	SLC6A17	110511231	1.000000	0.71417	0.951000	0.38953	0.247000	0.25773	6.985000	0.76193	1.087000	0.41251	0.563000	0.77884	GAG	-	SLC6A17	-	NULL		0.617	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	0	0		28	28		0.00		G	XM_371280		110709708	+1	12		35		tier1	no_errors	ENST00000331565	ensembl	human	known	74_37	missense	25.53		SNP	0.997	A	12	35
RTTN	25914	genome.wustl.edu	37	18	67727140	67727140	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:67727140G>A	ENST00000255674.6	-	36	5172	c.4886C>T	c.(4885-4887)cCc>cTc	p.P1629L	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1629					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGTGTCTCTGGGAGCAATCGT	0.433													ENSG00000176225																																					0													95.0	96.0	95.0					18																	67727140		1900	4124	6024	SO:0001583	missense	0			-	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4886C>T	18.37:g.67727140G>A	ENSP00000255674:p.Pro1629Leu		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P1629L	ENST00000255674.6	37	c.4886	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707725	0.48412	.	.	ENSG00000176225	ENST00000255674	T	0.63417	-0.04	5.66	5.66	0.87406	Armadillo-like helical (1);	0.051841	0.85682	D	0.000000	T	0.78792	0.4339	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80443	-0.1380	10	0.87932	D	0	.	16.6702	0.85264	0.0:0.0:1.0:0.0	.	1629	Q86VV8	RTTN_HUMAN	L	1629	ENSP00000255674:P1629L	ENSP00000255674:P1629L	P	-	2	0	RTTN	65878120	1.000000	0.71417	0.072000	0.20136	0.062000	0.15995	5.526000	0.67116	2.673000	0.90976	0.650000	0.86243	CCC	-	RTTN	-	NULL		0.433	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	0	0		73	73		0.00		G	NM_173630		67727140	-1	36		30		tier1	no_errors	ENST00000255674	ensembl	human	known	74_37	missense	54.55		SNP	0.698	A	36	30
RP11-51L5.5	0	genome.wustl.edu	37	17	60374341	60374341	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:60374341G>A	ENST00000602493.1	-	0	46																											AAGATAGCGGGGAAATAATTC	0.408													ENSG00000263887																																					0																																												0			-																													17.37:g.60374341G>A				R	SNP	-	NULL	ENST00000602493.1	37	NULL		17																																																																																			-	RP11-51L5.5	-	-		0.408	RP11-51L5.5-002	KNOWN	basic	processed_transcript	ENSG00000263887	Clone_based_vega_gene	pseudogene	OTTHUMT00000467668.1	0	0		110	110		0.00		G			60374341	-1	46		102		tier1	no_errors	ENST00000602493	ensembl	human	known	74_37	rna	30.87		SNP	1.000	A	46	102
POLQ	10721	genome.wustl.edu	37	3	121207016	121207016	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:121207016G>A	ENST00000264233.5	-	16	4890	c.4762C>T	c.(4762-4764)Cct>Tct	p.P1588S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1588					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)		AATGCTCTAGGAGATACTACA	0.368								DNA polymerases (catalytic subunits)					ENSG00000051341																									Pancreas(152;907 1925 26081 31236 36904)												0													147.0	141.0	143.0					3																	121207016		2203	4300	6503	SO:0001583	missense	0			-	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4762C>T	3.37:g.121207016G>A	ENSP00000264233:p.Pro1588Ser		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_D-dir_D_pol_A_palm_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_D-dir_D_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_D_polymerase_A	p.P1588S	ENST00000264233.5	37	c.4762	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.024355	0.02061	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.45668	0.89	6.17	2.13	0.27403	.	0.873077	0.09966	N	0.732800	T	0.24236	0.0587	N	0.14661	0.345	0.09310	N	1	B;B	0.27498	0.18;0.002	B;B	0.23018	0.043;0.004	T	0.19943	-1.0290	10	0.24483	T	0.36	.	9.0135	0.36155	0.3237:0.0:0.6763:0.0	.	1588;760	O75417;O75417-2	DPOLQ_HUMAN;.	S	1211;1588;1724	ENSP00000264233:P1588S	ENSP00000264233:P1588S	P	-	1	0	POLQ	122689706	0.078000	0.21339	0.005000	0.12908	0.012000	0.07955	0.639000	0.24690	0.369000	0.24510	0.655000	0.94253	CCT	-	POLQ	-	NULL		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	0	0		31	31		0.00		G	NM_199420		121207016	-1	5		20		tier1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	20.00		SNP	0.010	A	5	20
ABCD3	5825	genome.wustl.edu	37	1	94939328	94939328	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:94939328C>T	ENST00000370214.4	+	5	366	c.342C>T	c.(340-342)atC>atT	p.I114I	ABCD3_ENST00000454898.2_Silent_p.I138I|ABCD3_ENST00000315713.5_Silent_p.I114I|ABCD3_ENST00000536817.1_Silent_p.I41I|ABCD3_ENST00000394233.2_Silent_p.I114I	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	114	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GCAGTGGTATCATTGGTCGTA	0.363													ENSG00000117528																																					0													133.0	124.0	127.0					1																	94939328		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.342C>T	1.37:g.94939328C>T			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.I138	ENST00000370214.4	37	c.414	CCDS749.1	1																																																																																			-	ABCD3	-	pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_FA_transporter		0.363	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	0	0		80	80		0.00		C	NM_002858		94939328	+1	22		77		tier1	no_errors	ENST00000454898	ensembl	human	known	74_37	silent	22.22		SNP	1.000	T	22	77
TNK2	10188	genome.wustl.edu	37	3	195611736	195611736	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:195611736C>T	ENST00000333602.6	-	4	1020	c.403G>A	c.(403-405)Ggt>Agt	p.G135S	TNK2_ENST00000392400.1_Missense_Mutation_p.G135S|TNK2_ENST00000316664.3_Missense_Mutation_p.G135S|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Missense_Mutation_p.G198S|TNK2_ENST00000428187.1_Missense_Mutation_p.G167S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	CCAAAGGAACCATCACCCAGC	0.701													ENSG00000061938																																					0													37.0	37.0	37.0					3																	195611736		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.403G>A	3.37:g.195611736C>T	ENSP00000329425:p.Gly135Ser		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G198S	ENST00000333602.6	37	c.592	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017280	0.93404	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.99	4.99	0.66335	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	M	0.93720	3.45	0.80722	D	1	P;B;P;P	0.41910	0.503;0.379;0.689;0.764	B;B;P;P	0.60949	0.292;0.397;0.472;0.881	D	0.98925	1.0785	10	0.87932	D	0	.	17.2061	0.86918	0.0:1.0:0.0:0.0	.	135;135;198;167	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	S	135;198;167;135;135	ENSP00000329425:G135S;ENSP00000371341:G198S;ENSP00000392546:G167S;ENSP00000376201:G135S;ENSP00000323216:G135S	ENSP00000323216:G135S	G	-	1	0	TNK2	197096133	1.000000	0.71417	0.993000	0.49108	0.753000	0.42808	7.143000	0.77348	2.480000	0.83734	0.407000	0.27541	GGT	-	TNK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.701	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	0	0		60	60		0.00		C	NM_005781		195611736	-1	28		59		tier1	no_errors	ENST00000381916	ensembl	human	known	74_37	missense	32.18		SNP	1.000	T	28	59
DNASE1L2	1775	genome.wustl.edu	37	16	2287477	2287477	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2287477G>T	ENST00000564065.1	+	4	1419	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_Splice_Site_p.A140S|DNASE1L2_ENST00000320700.5_Missense_Mutation_p.G140C|DNASE1L2_ENST00000567494.1_Missense_Mutation_p.G140C			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	140					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						CCCCGGCACCGGTGAGCGGGC	0.711													ENSG00000167968																																					0													10.0	12.0	11.0					16																	2287477		1795	4032	5827	SO:0001583	missense	0			-	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.418G>T	16.37:g.2287477G>T	ENSP00000454562:p.Gly140Cys		E9PBY4|Q6JVM2|Q6JVM3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.G140C	ENST00000564065.1	37	c.418	CCDS42105.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.74|12.74	2.028460|2.028460	0.35797|0.35797	.|.	.|.	ENSG00000167968|ENSG00000167968	ENST00000382437|ENST00000541838;ENST00000320700	T|T	0.79554|0.81078	-1.28|-1.45	3.95|3.95	2.99|2.99	0.34606|0.34606	.|Endonuclease/exonuclease/phosphatase (2);	.|.	.|.	.|.	.|.	T|T	0.75722|0.75722	0.3888|0.3888	N|N	0.03608|0.03608	-0.345|-0.345	0.27825|0.27825	N|N	0.941659|0.941659	P|D	0.40970|0.89917	0.734|1.0	B|D	0.36666|0.81914	0.23|0.995	T|T	0.68341|0.68341	-0.5434|-0.5434	9|9	0.08837|0.54805	T|T	0.75|0.06	-1.1372|-1.1372	10.2195|10.2195	0.43188|0.43188	0.0998:0.0:0.9002:0.0|0.0998:0.0:0.9002:0.0	.|.	140|140	Q6JVM2|Q92874	.|DNSL2_HUMAN	S|C	140|140	ENSP00000371874:A140S|ENSP00000316938:G140C	ENSP00000371874:A140S|ENSP00000316938:G140C	A|G	+|+	1|1	0|0	DNASE1L2|DNASE1L2	2227478|2227478	0.991000|0.991000	0.36638|0.36638	0.709000|0.709000	0.30452|0.30452	0.302000|0.302000	0.27658|0.27658	2.150000|2.150000	0.42254|0.42254	0.863000|0.863000	0.35553|0.35553	0.492000|0.492000	0.49549|0.49549	GCA|GGT	-	DSE1L2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I		0.711	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	DSE1L2	HGNC	protein_coding	OTTHUMT00000435236.1	0	0		12	12		0.00		G	NM_001374		2287477	+1	6		11		tier1	no_errors	ENST00000320700	ensembl	human	known	74_37	missense	35.29		SNP	0.884	T	6	11
CHAF1B	8208	genome.wustl.edu	37	21	37771813	37771813	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:37771813C>T	ENST00000314103.5	+	7	729					NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CATGTTCTTTCTTCAGGGTGC	0.408													ENSG00000159259																																					0													117.0	111.0	113.0					21																	37771813		2203	4300	6503	SO:0001627	intron_variant	0			-	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.579-6C>T	21.37:g.37771813C>T			Q99548	R	SNP	-	NULL	ENST00000314103.5	37	NULL	CCDS13644.1	21																																																																																			-	CHAF1B	-	-		0.408	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1B	HGNC	protein_coding	OTTHUMT00000194616.2	0	0		63	63		0.00		C	NM_005441		37771813	+1	22		48		tier1	no_errors	ENST00000481458	ensembl	human	known	74_37	rna	31.43		SNP	0.000	T	22	48
KIF18B	146909	genome.wustl.edu	37	17	43013578	43013578	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:43013578G>A	ENST00000593135.1	-	2	232	c.135C>T	c.(133-135)ccC>ccT	p.P45P	KIF18B_ENST00000438933.2_Silent_p.P45P|KIF18B_ENST00000339151.4_Silent_p.P45P|KIF18B_ENST00000590129.1_Silent_p.P54P|KIF18B_ENST00000587309.1_Silent_p.P45P	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	54	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ACCCTCCATCGGGCTCCTCAG	0.637													ENSG00000186185																																					0													17.0	21.0	20.0					17																	43013578		2031	4165	6196	SO:0001819	synonymous_variant	0			-		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.135C>T	17.37:g.43013578G>A			A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P45	ENST00000593135.1	37	c.135	CCDS45709.2	17																																																																																			-	KIF18B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	0	0		88	88		0.00		G	NM_001080443		43013578	-1	18		130		tier1	no_errors	ENST00000339151	ensembl	human	known	74_37	silent	12.16		SNP	0.197	A	18	130
SUOX	6821	genome.wustl.edu	37	12	56397910	56397910	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56397910C>T	ENST00000394109.3	+	3	1461	c.737C>T	c.(736-738)tCc>tTc	p.S246F	SUOX_ENST00000266971.3_Missense_Mutation_p.S246F|SUOX_ENST00000394115.2_Missense_Mutation_p.S246F|SUOX_ENST00000548274.1_Missense_Mutation_p.S246F|SUOX_ENST00000356124.4_Missense_Mutation_p.S246F|SUOX_ENST00000551841.2_Intron			P51687	SUOX_HUMAN	sulfite oxidase	246	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTCTCTTTCCCTGGATGAC	0.517													ENSG00000139531																																					0													108.0	103.0	104.0					12																	56397910		2203	4300	6503	SO:0001583	missense	0			-	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.737C>T	12.37:g.56397910C>T	ENSP00000377668:p.Ser246Phe			Missense_Mutation	SNP	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd	p.S246F	ENST00000394109.3	37	c.737	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451039	0.84209	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	4.91	4.91	0.64330	Oxidoreductase, molybdopterin-binding domain (3);	0.123173	0.56097	D	0.000036	D	0.96842	0.8969	M	0.87547	2.89	0.58432	D	0.999996	D	0.54207	0.965	P	0.55871	0.786	D	0.96930	0.9680	10	0.54805	T	0.06	-0.0973	17.414	0.87494	0.0:1.0:0.0:0.0	.	246	P51687	SUOX_HUMAN	F	246	ENSP00000348440:S246F;ENSP00000266971:S246F;ENSP00000377674:S246F;ENSP00000450245:S246F;ENSP00000377668:S246F	ENSP00000266971:S246F	S	+	2	0	SUOX	54684177	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	7.162000	0.77515	2.727000	0.93392	0.591000	0.81541	TCC	-	SUOX	-	pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom		0.517	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	0	0		52	52		0.00		C	NM_000456		56397910	+1	16		27		tier1	no_errors	ENST00000266971	ensembl	human	known	74_37	missense	37.21		SNP	0.992	T	16	27
KIF1A	547	genome.wustl.edu	37	2	241710470	241710470	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:241710470G>A	ENST00000320389.7	-	14	1390	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	KIF1A_ENST00000498729.2_Missense_Mutation_p.S420F	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	411					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCGCGGCTGGACAGGGCTGA	0.642													ENSG00000130294																																					0													51.0	64.0	60.0					2																	241710470		2115	4256	6371	SO:0001583	missense	0			-	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1232C>T	2.37:g.241710470G>A	ENSP00000322791:p.Ser411Phe		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S420F	ENST00000320389.7	37	c.1259	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410682	0.62399	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73789	-0.64;-0.71;-0.78	4.11	4.11	0.48088	.	0.194953	0.45606	U	0.000352	T	0.79857	0.4518	M	0.65498	2.005	0.80722	D	1	P;D;P	0.54601	0.82;0.967;0.951	B;P;P	0.51742	0.424;0.569;0.678	T	0.83186	-0.0086	10	0.59425	D	0.04	.	16.3652	0.83317	0.0:0.0:1.0:0.0	.	420;420;411	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	F	411;420;420;420	ENSP00000322791:S411F;ENSP00000438388:S420F;ENSP00000384231:S420F	ENSP00000322791:S411F	S	-	2	0	KIF1A	241359143	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.561000	0.98142	1.848000	0.53677	0.555000	0.69702	TCC	-	KIF1A	-	NULL		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	0	0		34	34		0.00		G	NM_138483		241710470	-1	18		37		tier1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	32.73		SNP	1.000	A	18	37
CYP2F1	1572	genome.wustl.edu	37	19	41626324	41626324	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41626324G>A	ENST00000331105.2	+	4	479	c.407G>A	c.(406-408)gGg>gAg	p.G136E		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	136					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CGGAATTTCGGGATGGGGAAG	0.532													ENSG00000197446																																					0													114.0	113.0	114.0					19																	41626324		2203	4300	6503	SO:0001583	missense	0			-	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.407G>A	19.37:g.41626324G>A	ENSP00000333534:p.Gly136Glu		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G136E	ENST00000331105.2	37	c.407	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331490	0.60853	.	.	ENSG00000197446	ENST00000331105	T	0.12984	2.63	4.25	4.25	0.50352	.	0.056208	0.64402	U	0.000001	T	0.54711	0.1875	H	0.98487	4.245	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.979	T	0.75130	-0.3426	10	0.87932	D	0	.	15.7179	0.77685	0.0:0.0:1.0:0.0	.	136;136	Q32MN5;P24903	.;CP2F1_HUMAN	E	136	ENSP00000333534:G136E	ENSP00000333534:G136E	G	+	2	0	CYP2F1	46318164	1.000000	0.71417	0.992000	0.48379	0.085000	0.17905	9.085000	0.94083	2.239000	0.73571	0.562000	0.76482	GGG	-	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.532	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	0	0		57	57		0.00		G			41626324	+1	11		43		tier1	no_errors	ENST00000331105	ensembl	human	known	74_37	missense	20.37		SNP	1.000	A	11	43
ZDHHC6	64429	genome.wustl.edu	37	10	114194076	114194076	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:114194076G>A	ENST00000369405.3	-	7	1305	c.882C>T	c.(880-882)ggC>ggT	p.G294G	ZDHHC6_ENST00000369404.3_Silent_p.G290G|ZDHHC6_ENST00000482410.1_5'Flank	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	294					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATTGGTGACAGCCTTCTCTTA	0.443													ENSG00000023041																																					0													108.0	96.0	100.0					10																	114194076		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.882C>T	10.37:g.114194076G>A			D3DRB6|Q53G45|Q96IV7|Q9H605	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase	p.G294	ENST00000369405.3	37	c.882	CCDS7574.1	10																																																																																			-	ZDHHC6	-	NULL		0.443	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC6	HGNC	protein_coding	OTTHUMT00000050393.1	0	0		96	96		0.00		G	NM_022494		114194076	-1	25		55		tier1	no_errors	ENST00000369405	ensembl	human	known	74_37	silent	31.25		SNP	0.999	A	25	55
PPEF2	5470	genome.wustl.edu	37	4	76808020	76808020	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:76808020G>A	ENST00000286719.7	-	7	920	c.564C>T	c.(562-564)atC>atT	p.I188I		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	188	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAAATATAAAGATTAAGTCAT	0.289													ENSG00000156194																									NSCLC(105;1359 1603 15961 44567 47947)												0													45.0	54.0	51.0					4																	76808020		2180	4268	6448	SO:0001819	synonymous_variant	0			-	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.564C>T	4.37:g.76808020G>A			O14831	Silent	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom	p.I188	ENST00000286719.7	37	c.564	CCDS34013.1	4																																																																																			-	PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.289	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	0	0		82	82		0.00		G	NM_006239		76808020	-1	33		61		tier1	no_errors	ENST00000286719	ensembl	human	known	74_37	silent	35.11		SNP	0.998	A	33	61
CCDC67	159989	genome.wustl.edu	37	11	93088656	93088656	+	Missense_Mutation	SNP	G	G	A	rs201277348		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:93088656G>A	ENST00000298050.3	+	3	249	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Missense_Mutation_p.R50Q	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	50					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTAGATCTTCGGGATCAAGAA	0.378													ENSG00000165325																																					0								G	GLN/ARG	1,3737		0,1,1868	99.0	99.0	99.0		149	5.5	1.0	11		99	0,8196		0,0,4098	yes	missense	CCDC67	NM_181645.3	43	0,1,5966	AA,AG,GG		0.0,0.0268,0.0084	possibly-damaging	50/605	93088656	1,11933	1869	4098	5967	SO:0001583	missense	0			-	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.149G>A	11.37:g.93088656G>A	ENSP00000298050:p.Arg50Gln		Q8NEF1|Q96LL7	Missense_Mutation	SNP	superfamily_MHC_II-assoc_invariant_trimer	p.R50Q	ENST00000298050.3	37	c.149	CCDS44707.1	11	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453865	0.63290	2.68E-4	0.0	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.54	5.54	0.83059	.	0.100000	0.44688	D	0.000423	T	0.18299	0.0439	L	0.47716	1.5	0.32367	N	0.556372	P;P;P	0.50819	0.939;0.785;0.939	B;B;B	0.35931	0.214;0.127;0.214	T	0.25502	-1.0130	10	0.28530	T	0.3	.	9.7244	0.40322	0.1594:0.0:0.8406:0.0	.	50;50;42	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	Q	50	ENSP00000432111:R50Q;ENSP00000298050:R50Q;ENSP00000434635:R50Q;ENSP00000433002:R50Q	ENSP00000298050:R50Q	R	+	2	0	CCDC67	92728304	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.734000	0.47368	2.616000	0.88540	0.491000	0.48974	CGG	rs201277348	CCDC67	-	NULL		0.378	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	HGNC	protein_coding		0	0		58	58		0.00		G	NM_181645		93088656	+1	8		51		tier1	no_errors	ENST00000298050	ensembl	human	known	74_37	missense	13.56		SNP	1.000	A	8	51
SLC9A3R2	9351	genome.wustl.edu	37	16	2086401	2086401	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2086401A>G	ENST00000424542.2	+	3	629	c.491A>G	c.(490-492)aAc>aGc	p.N164S	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.N164S|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.N58S|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.N53S	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	164	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						TATGGGTTCAACCTGCATAGT	0.677													ENSG00000065054																									Ovarian(69;105 1552 17724 23473)												0													19.0	25.0	23.0					16																	2086401		2068	4213	6281	SO:0001583	missense	0			-	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.491A>G	16.37:g.2086401A>G	ENSP00000408005:p.Asn164Ser		D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.N164S	ENST00000424542.2	37	c.491	CCDS45382.1	16	.	.	.	.	.	.	.	.	.	.	a	16.48	3.136513	0.56936	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.24908	1.83;1.83	4.05	4.05	0.47172	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	N	0.13272	0.32	0.54753	D	0.999989	D;D;D	0.76494	0.999;0.981;0.984	D;P;D	0.85130	0.997;0.877;0.954	T	0.10660	-1.0620	10	0.39692	T	0.17	-18.6395	12.3363	0.55069	1.0:0.0:0.0:0.0	.	199;164;164	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	S	164	ENSP00000408005:N164S;ENSP00000402857:N164S	ENSP00000408005:N164S	N	+	2	0	SLC9A3R2	2026402	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	5.297000	0.65704	1.700000	0.51204	0.255000	0.18592	AAC	-	SLC9A3R2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ		0.677	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R2	HGNC	protein_coding	OTTHUMT00000434448.1	0	0		86	86		0.00		A			2086401	+1	68		147		tier1	no_errors	ENST00000424542	ensembl	human	known	74_37	missense	31.63		SNP	1.000	G	68	147
MUSK	4593	genome.wustl.edu	37	9	113459746	113459746	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113459746G>A	ENST00000374448.4	+	5	762	c.628G>A	c.(628-630)Gtt>Att	p.V210I	MUSK_ENST00000374440.3_Splice_Site_p.G92S|MUSK_ENST00000374439.1_Splice_Site_p.G92S|MUSK_ENST00000416899.2_Splice_Site_p.V210I|MUSK_ENST00000189978.5_Splice_Site_p.V210I	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	210					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGAAGTTGAGGGTAAGGAGCT	0.517													ENSG00000030304																																					0													84.0	86.0	85.0					9																	113459746		1961	4146	6107	SO:0001630	splice_region_variant	0			-	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.628+1G>A	9.37:g.113459746G>A			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V210I	ENST00000374448.4	37	c.628	CCDS48005.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.0|21.0|21.0	4.077718|4.077718|4.077718	0.76528|0.76528|0.76528	.|.|.	.|.|.	ENSG00000030304|ENSG00000030304|ENSG00000030304	ENST00000374447;ENST00000545907|ENST00000374440;ENST00000374439|ENST00000189978;ENST00000374448;ENST00000543335;ENST00000416899	.|T;T|T	.|0.29142|0.31769	.|1.58;1.58|1.48	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|Immunoglobulin-like fold (1);	.|.|0.122223	.|.|0.56097	.|.|D	.|.|0.000034	T|T|T	0.34279|0.34279|0.34279	0.0892|0.0892|0.0892	L|L|L	0.56199|0.56199|0.56199	1.76|1.76|1.76	0.80722|0.80722|0.80722	D|D|D	1|1|1	P|.|B	0.40302|.|0.21452	0.712|.|0.056	B|.|B	0.42188|.|0.22601	0.379|.|0.04	T|T|T	0.04103|0.04103|0.04103	-1.0977|-1.0977|-1.0977	8|7|10	0.12430|0.10636|0.38643	T|T|T	0.62|0.68|0.18	.|.|.	18.6627|18.6627|18.6627	0.91477|0.91477|0.91477	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	210|.|210	F5H6T2|.|O15146	.|.|MUSK_HUMAN	K|S|I	210|92|210	.|ENSP00000363563:G92S;ENSP00000363562:G92S|ENSP00000363571:V210I	ENSP00000363570:E210K|ENSP00000363562:G92S|ENSP00000189978:V210I	E|G|V	+|+|+	1|1|1	0|0|0	MUSK|MUSK|MUSK	112499567|112499567|112499567	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.912000|0.912000|0.912000	0.54170|0.54170|0.54170	7.898000|7.898000|7.898000	0.87363|0.87363|0.87363	2.740000|2.740000|2.740000	0.93945|0.93945|0.93945	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGT|GTT	-	MUSK	-	NULL		0.517	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		0	0		59	59		0.00		G		Missense_Mutation	113459746	+1	29		77		tier1	no_errors	ENST00000374448	ensembl	human	known	74_37	missense	27.36		SNP	1.000	A	29	77
DNAH8	1769	genome.wustl.edu	37	6	38749101	38749101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:38749101G>A	ENST00000359357.3	+	14	1814	c.1560G>A	c.(1558-1560)tgG>tgA	p.W520*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W737*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W520*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	520					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAATACTCTGGGTGAGGCAGC	0.373													ENSG00000124721																																					0													68.0	70.0	69.0					6																	38749101		2203	4300	6503	SO:0001587	stop_gained	0			-	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1560G>A	6.37:g.38749101G>A	ENSP00000352312:p.Trp520*		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_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.W520*	ENST00000359357.3	37	c.1560		6	.	.	.	.	.	.	.	.	.	.	G	42	9.329203	0.99138	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9275	0.88988	0.0:0.0:1.0:0.0	.	.	.	.	X	725;725;520;520	.	ENSP00000333363:W725X	W	+	3	0	DNAH8	38857079	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.257000	0.78362	2.674000	0.91012	0.543000	0.68304	TGG	-	DH8	-	pfam_Dynein_heavy_dom-1		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DH8	HGNC	protein_coding	OTTHUMT00000043574.1	0	0		67	67		0.00		G	NM_001206927		38749101	+1	35		42		tier1	no_errors	ENST00000359357	ensembl	human	known	74_37	nonsense	44.30		SNP	1.000	A	35	42
VWA3B	200403	genome.wustl.edu	37	2	98804437	98804437	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:98804437G>A	ENST00000477737.1	+	10	1515		c.e10-1		VWA3B_ENST00000435344.1_Splice_Site|VWA3B_ENST00000451075.2_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATCTCCTTAGGAGACGAACA	0.483													ENSG00000168658																																					0													50.0	49.0	49.0					2																	98804437		1902	4126	6028	SO:0001630	splice_region_variant	0			-	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1312-1G>A	2.37:g.98804437G>A			B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Splice_Site	SNP	-	e9-1	ENST00000477737.1	37	c.1312-1	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268383	0.59540	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6645	0.85249	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3B	98170869	1.000000	0.71417	0.996000	0.52242	0.699000	0.40488	6.617000	0.74210	2.278000	0.76064	0.460000	0.39030	.	-	VWA3B	-	-		0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	0	0		67	67		0.00		G	NM_144992	Intron	98804437	+1	27		55		tier1	no_errors	ENST00000477737	ensembl	human	known	74_37	splice_site	32.93		SNP	1.000	A	27	55
GPX8	493869	genome.wustl.edu	37	5	54456138	54456138	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:54456138C>T	ENST00000503787.1	+	1	193	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	GPX8_ENST00000515370.1_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_Missense_Mutation_p.L40F|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000506123.1_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000381375.2_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	40					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	ACTAAAATTCCTCAAACCTAA	0.378													ENSG00000164294																																					0													108.0	105.0	106.0					5																	54456138		2203	4300	6503	SO:0001583	missense	0			-	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.118C>T	5.37:g.54456138C>T	ENSP00000423822:p.Leu40Phe			Missense_Mutation	SNP	pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	p.L40F	ENST00000503787.1	37	c.118	CCDS34156.1	5	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361025	0.41801	.	.	ENSG00000164294	ENST00000503787;ENST00000296734	T	0.05382	3.45	5.93	5.02	0.67125	.	0.569849	0.18089	N	0.152047	T	0.04003	0.0112	N	0.14661	0.345	0.80722	D	1	B	0.16603	0.018	B	0.08055	0.003	T	0.44421	-0.9329	10	0.38643	T	0.18	.	7.1893	0.25816	0.1702:0.7244:0.0:0.1054	.	40	Q8TED1	GPX8_HUMAN	F	40	ENSP00000423822:L40F	ENSP00000296734:L40F	L	+	1	0	GPX8	54491895	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.269000	0.43346	2.798000	0.96311	0.655000	0.94253	CTC	-	GPX8	-	pirsf_Glutathione_peroxidase		0.378	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	HGNC	protein_coding	OTTHUMT00000369717.1	0	0		67	67		0.00		C	NM_001008397		54456138	+1	27		37		tier1	no_errors	ENST00000503787	ensembl	human	known	74_37	missense	42.19		SNP	0.996	T	27	37
PDP1	54704	genome.wustl.edu	37	8	94934287	94934287	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:94934287C>T	ENST00000297598.4	+	0	269				PDP1_ENST00000396200.3_Silent_p.A25A|PDP1_ENST00000517764.1_5'UTR|PDP1_ENST00000520728.1_5'UTR	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1						cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTCTGATGCCATGCCAGCAC	0.448													ENSG00000164951																																					0													142.0	135.0	137.0					8																	94934287		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.-1C>T	8.37:g.94934287C>T			B3KX71|J3KPU0|Q5U5K1	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.A25	ENST00000297598.4	37	c.75	CCDS6259.1	8																																																																																			-	PDP1	-	NULL		0.448	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	0	0		35	35		0.00		C	NM_018444		94934287	+1	15		21		tier1	no_errors	ENST00000396200	ensembl	human	known	74_37	silent	41.67		SNP	1.000	T	15	21
SPANXN2	494119	genome.wustl.edu	37	X	142795316	142795316	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:142795316G>A	ENST00000370498.1	-	2	1115	c.362C>T	c.(361-363)tCt>tTt	p.S121F		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	121								p.K49K(1)|p.S121F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.522													ENSG00000203924																																					2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											20.0	20.0	20.0					X																	142795316		2116	4094	6210	SO:0001583	missense	0			-		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.362C>T	X.37:g.142795316G>A	ENSP00000359529:p.Ser121Phe		Q0ZNM2	Missense_Mutation	SNP	pfam_SPANX_prot	p.S121F	ENST00000370498.1	37	c.362	CCDS35419.1	X	.	.	.	.	.	.	.	.	.	.	N	5.902	0.350506	0.11182	.	.	ENSG00000203924	ENST00000370498	T	0.08458	3.09	0.441	-0.882	0.10604	.	.	.	.	.	T	0.11495	0.0280	L	0.29908	0.895	0.09310	N	1	D	0.59357	0.985	P	0.59643	0.861	T	0.21109	-1.0255	8	0.87932	D	0	.	.	.	.	.	121	Q5MJ10	SPXN2_HUMAN	F	121	ENSP00000359529:S121F	ENSP00000359529:S121F	S	-	2	0	SPANXN2	142622982	0.058000	0.20735	0.000000	0.03702	0.019000	0.09904	-0.386000	0.07370	-0.585000	0.05905	0.263000	0.19301	TCT	-	SPANXN2	-	NULL		0.522	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	0	0		84	84		0.00		G	NM_001009615		142795316	-1	11		63		tier1	no_errors	ENST00000370498	ensembl	human	known	74_37	missense	14.86		SNP	0.003	A	11	63
TMPRSS15	5651	genome.wustl.edu	37	21	19698792	19698792	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:19698792C>T	ENST00000284885.3	-	16	1911	c.1878G>A	c.(1876-1878)ggG>ggA	p.G626G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	626	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGCTTTAAACCCTCCTCTTG	0.458													ENSG00000154646																																					0													234.0	197.0	209.0					21																	19698792		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1878G>A	21.37:g.19698792C>T			Q2NKL7	Silent	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.G626	ENST00000284885.3	37	c.1878	CCDS13571.1	21																																																																																			-	TMPRSS15	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.458	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	0	0		65	65		0.00		C	NM_002772		19698792	-1	37		70		tier1	no_errors	ENST00000284885	ensembl	human	known	74_37	silent	34.58		SNP	0.590	T	37	70
ARHGEF3	50650	genome.wustl.edu	37	3	56807784	56807784	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:56807784G>A	ENST00000296315.3	-	2	325	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.P59S|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.P24S|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.P53S|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.P59S|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.P85S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	53					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TTCACGGGCGGGATGAGGTTT	0.483													ENSG00000163947																																					0													116.0	111.0	113.0					3																	56807784		2203	4300	6503	SO:0001583	missense	0			-	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.157C>T	3.37:g.56807784G>A	ENSP00000296315:p.Pro53Ser		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P85S	ENST00000296315.3	37	c.253	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	G	5.761	0.324820	0.10900	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779;ENST00000468466	T;T;T;T;T;T	0.21361	2.15;2.03;2.01;2.03;2.03;2.19	5.28	4.39	0.52855	.	0.052636	0.85682	D	0.000000	T	0.13970	0.0338	N	0.25485	0.75	0.58432	D	0.999994	B;B;B;B;B;B	0.22276	0.04;0.02;0.007;0.041;0.04;0.067	B;B;B;B;B;B	0.20955	0.023;0.008;0.008;0.032;0.014;0.032	T	0.04915	-1.0918	10	0.02654	T	1	-4.0576	16.1151	0.81302	0.0:0.1341:0.8659:0.0	.	59;24;53;85;53;59	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	S	53;85;59;59;24;53;54;71;85	ENSP00000296315:P53S;ENSP00000341071:P85S;ENSP00000410922:P59S;ENSP00000420420:P59S;ENSP00000418826:P24S;ENSP00000417986:P53S	ENSP00000296315:P53S	P	-	1	0	ARHGEF3	56782824	1.000000	0.71417	0.963000	0.40424	0.942000	0.58702	4.904000	0.63279	1.349000	0.45751	0.650000	0.86243	CCG	-	ARHGEF3	-	NULL		0.483	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	0	0		114	114		0.00		G	NM_019555		56807784	-1	53		97		tier1	no_errors	ENST00000338458	ensembl	human	known	74_37	missense	35.10		SNP	0.999	A	53	97
RYR2	6262	genome.wustl.edu	37	1	237819277	237819277	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237819277A>G	ENST00000366574.2	+	53	8439	c.8122A>G	c.(8122-8124)Acc>Gcc	p.T2708A	RYR2_ENST00000542537.1_Missense_Mutation_p.T2692A|RYR2_ENST00000360064.6_Missense_Mutation_p.T2706A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2708	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)			ACCTGTTGATACCTCAAAGTA	0.358													ENSG00000198626																																					0													73.0	71.0	72.0					1																	237819277		1848	4104	5952	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.8122A>G	1.37:g.237819277A>G	ENSP00000355533:p.Thr2708Ala		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.T2706A	ENST00000366574.2	37	c.8116	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631839	0.87660	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92595	-3.07;-3.07;-3.07	5.95	5.95	0.96441	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000006	D	0.95762	0.8621	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95846	0.8870	10	0.59425	D	0.04	-16.7772	16.4101	0.83708	1.0:0.0:0.0:0.0	.	2708	Q92736	RYR2_HUMAN	A	2708;2706;2692	ENSP00000355533:T2708A;ENSP00000353174:T2706A;ENSP00000443798:T2692A	ENSP00000353174:T2706A	T	+	1	0	RYR2	235885900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	2.280000	0.76307	0.460000	0.39030	ACC	-	RYR2	-	pfam_Ryanodine_rcpt		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0		37	37		0.00		A	NM_001035		237819277	+1	27		29		tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	48.21		SNP	1.000	G	27	29
KRTAP19-5	337972	genome.wustl.edu	37	21	31874326	31874326	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:31874326C>G	ENST00000334151.2	-	1	109	c.83G>C	c.(82-84)gGa>gCa	p.G28A		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	28						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GCTGCCACATCCACAGCCATA	0.597													ENSG00000186977																																					0													149.0	132.0	138.0					21																	31874326		2203	4300	6503	SO:0001583	missense	0			-	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.83G>C	21.37:g.31874326C>G	ENSP00000334985:p.Gly28Ala		A4IF22	Missense_Mutation	SNP	pfam_KRTAP_type6/8/16/19/20	p.G28A	ENST00000334151.2	37	c.83	CCDS13597.1	21	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608879	0.28623	.	.	ENSG00000186977	ENST00000334151	T	0.16073	2.37	5.05	4.15	0.48705	.	0.000000	0.40385	U	0.001120	T	0.37865	0.1019	.	.	.	0.34583	D	0.714651	D	0.63880	0.993	D	0.65010	0.931	T	0.56294	-0.8003	9	0.87932	D	0	.	11.0683	0.47989	0.186:0.814:0.0:0.0	.	28	Q3LI72	KR195_HUMAN	A	28	ENSP00000334985:G28A	ENSP00000334985:G28A	G	-	2	0	KRTAP19-5	30796197	0.161000	0.22892	0.196000	0.23383	0.763000	0.43281	3.268000	0.51585	1.246000	0.43901	0.591000	0.81541	GGA	-	KRTAP19-5	-	pfam_KRTAP_type6/8/16/19/20		0.597	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-5	HGNC	protein_coding	OTTHUMT00000128226.2	0	0		103	103		0.00		C			31874326	-1	46		104		tier1	no_errors	ENST00000334151	ensembl	human	known	74_37	missense	30.67		SNP	0.943	G	46	104
ARHGEF6	9459	genome.wustl.edu	37	X	135757223	135757223	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:135757223G>A	ENST00000250617.6	-	19	3183	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L506F|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L533F|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L506F	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	660					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATCACTTTAAGGATTTGAGCA	0.423													ENSG00000129675																																					0													149.0	126.0	134.0					X																	135757223		2203	4300	6503	SO:0001583	missense	0			-	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1978C>T	X.37:g.135757223G>A	ENSP00000250617:p.Leu660Phe		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.L660F	ENST00000250617.6	37	c.1978	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274437	0.59649	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.73258	-0.62;-0.49;-0.49;-0.73	5.59	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86814	0.2000	10	0.87932	D	0	.	14.0029	0.64444	0.0758:0.0:0.9242:0.0	.	533;660	B7Z3C7;Q15052	.;ARHG6_HUMAN	F	660;506;506;506;533	ENSP00000250617:L660F;ENSP00000359654:L506F;ENSP00000359656:L506F;ENSP00000439483:L533F	ENSP00000250617:L660F	L	-	1	0	ARHGEF6	135584889	1.000000	0.71417	0.998000	0.56505	0.317000	0.28152	6.043000	0.71004	2.347000	0.79759	0.600000	0.82982	CTT	-	ARHGEF6	-	NULL		0.423	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	0	0		40	40		0.00		G	NM_004840		135757223	-1	37		12		tier1	no_errors	ENST00000250617	ensembl	human	known	74_37	missense	75.51		SNP	1.000	A	37	12
TEP1	7011	genome.wustl.edu	37	14	20848597	20848597	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:20848597C>T	ENST00000262715.5	-	34	4840	c.4800G>A	c.(4798-4800)gaG>gaA	p.E1600E	TEP1_ENST00000556935.1_Silent_p.E1492E|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1600					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAACGTCAGCCTCGGGGAGCT	0.597													ENSG00000129566																																					0													54.0	54.0	54.0					14																	20848597		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4800G>A	14.37:g.20848597C>T			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_CHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1600	ENST00000262715.5	37	c.4800	CCDS9548.1	14																																																																																			-	TEP1	-	NULL		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	0	0		68	68		0.00		C	NM_007110		20848597	-1	40		34		tier1	no_errors	ENST00000262715	ensembl	human	known	74_37	silent	54.05		SNP	0.816	T	40	34
PCLO	27445	genome.wustl.edu	37	7	82586232	82586232	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82586232G>A	ENST00000333891.9	-	5	4374	c.4037C>T	c.(4036-4038)tCa>tTa	p.S1346L	PCLO_ENST00000423517.2_Missense_Mutation_p.S1346L	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						TGAGGTGTCTGATTTGTCATC	0.413													ENSG00000186472																																					0													43.0	41.0	41.0					7																	82586232		1863	4095	5958	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.4037C>T	7.37:g.82586232G>A	ENSP00000334319:p.Ser1346Leu			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.S1346L	ENST00000333891.9	37	c.4037	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562326	0.45694	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	5.67	5.67	0.87782	.	.	.	.	.	T	0.42585	0.1209	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.21759	-1.0236	9	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	1346;1346	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1277;1346;1346	ENSP00000334319:S1346L;ENSP00000388393:S1346L	ENSP00000334319:S1346L	S	-	2	0	PCLO	82424168	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.124000	0.77185	2.659000	0.90383	0.655000	0.94253	TCA	-	PCLO	-	NULL		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		36	36		0.00		G	NM_014510		82586232	-1	25		42		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	37.31		SNP	1.000	A	25	42
SRRM2	23524	genome.wustl.edu	37	16	2806482	2806482	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2806482G>A	ENST00000301740.8	+	2	666	c.117G>A	c.(115-117)gaG>gaA	p.E39E		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	39					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						ACAAGGGAGAGGAGGAACTGC	0.711													ENSG00000167978																																					0													29.0	31.0	30.0					16																	2806482		2198	4298	6496	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.117G>A	16.37:g.2806482G>A			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mR_splic_Cwf21	p.E39	ENST00000301740.8	37	c.117	CCDS32373.1	16																																																																																			-	SRRM2	-	NULL		0.711	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	0	0		142	142		0.00		G			2806482	+1	84		169		tier1	no_errors	ENST00000301740	ensembl	human	known	74_37	silent	33.20		SNP	1.000	A	84	169
UHRF1BP1	54887	genome.wustl.edu	37	6	34803228	34803228	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:34803228C>T	ENST00000192788.5	+	7	998	c.827C>T	c.(826-828)cCt>cTt	p.P276L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P276L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	276							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGCCTGGCCCCTGAACCTGTG	0.493													ENSG00000065060																																					0													62.0	64.0	63.0					6																	34803228		1946	4138	6084	SO:0001583	missense	0			-	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.827C>T	6.37:g.34803228C>T	ENSP00000192788:p.Pro276Leu		Q9NXE0	Missense_Mutation	SNP	NULL	p.P276L	ENST00000192788.5	37	c.827	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842337	0.91197	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08458	3.09;3.09	4.72	4.72	0.59763	.	0.063176	0.64402	D	0.000003	T	0.10208	0.0250	L	0.40543	1.245	0.80722	D	1	D	0.58620	0.983	P	0.53266	0.722	T	0.03524	-1.1028	10	0.72032	D	0.01	-15.8177	18.2449	0.89982	0.0:1.0:0.0:0.0	.	276	Q6BDS2	URFB1_HUMAN	L	276	ENSP00000192788:P276L;ENSP00000400628:P276L	ENSP00000192788:P276L	P	+	2	0	UHRF1BP1	34911206	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.251000	0.78297	2.632000	0.89209	0.650000	0.86243	CCT	-	UHRF1BP1	-	NULL		0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	0	0		52	52		0.00		C	NM_017754		34803228	+1	12		37		tier1	no_errors	ENST00000192788	ensembl	human	known	74_37	missense	24.49		SNP	1.000	T	12	37
CTSD	1509	genome.wustl.edu	37	11	1778663	1778663	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1778663G>A	ENST00000236671.2	-	5	727	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	RP11-295K3.1_ENST00000427721.1_Silent_p.S69S|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	199					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCCATGCCCAGGATGCCATCG	0.592													ENSG00000117984																																					0													211.0	137.0	162.0					11																	1778663		2202	4299	6501	SO:0001819	synonymous_variant	0			-	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.595C>T	11.37:g.1778663G>A			Q6IB57	Silent	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L199	ENST00000236671.2	37	c.595	CCDS7725.1	11																																																																																			-	CTSD	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.592	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	0	0		36	36		0.00		G	NM_001909		1778663	-1	21		31		tier1	no_errors	ENST00000236671	ensembl	human	known	74_37	silent	40.38		SNP	1.000	A	21	31
FBXO42	54455	genome.wustl.edu	37	1	16578032	16578032	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16578032G>A	ENST00000375592.3	-	10	1503	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	429										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTCTGGCTGGGGAAAGGCTCC	0.582													ENSG00000037637																																					0													33.0	34.0	34.0					1																	16578032		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1287C>T	1.37:g.16578032G>A			B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.S429	ENST00000375592.3	37	c.1287	CCDS30613.1	1																																																																																			-	FBXO42	-	NULL		0.582	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	0	0		32	32		0.00		G			16578032	-1	11		28		tier1	no_errors	ENST00000375592	ensembl	human	known	74_37	silent	28.21		SNP	1.000	A	11	28
SCN10A	6336	genome.wustl.edu	37	3	38835268	38835268	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38835268G>A	ENST00000449082.2	-	1	233	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	78					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATCCTCCAGGGGCTCCCCGA	0.567													ENSG00000185313																																					0													145.0	151.0	149.0					3																	38835268		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.234C>T	3.37:g.38835268G>A			A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.P78	ENST00000449082.2	37	c.234	CCDS33736.1	3																																																																																			-	SCN10A	-	NULL		0.567	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	0	0		39	39		0.00		G	NM_006514		38835268	-1	9		71		tier1	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	11.25		SNP	0.834	A	9	71
CCNYL2	414194	genome.wustl.edu	37	10	42905627	42905627	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:42905627C>T	ENST00000483242.3	-	0	1299					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TGTCTTGTTCCATCCTTGAAA	0.388													ENSG00000182632																																					0																																												0			-	BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42905627C>T				R	SNP	-	NULL	ENST00000483242.3	37	NULL		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.271|7.271	0.607073|0.607073	0.14002|0.14002	.|.	.|.	ENSG00000182632|ENSG00000182632	ENST00000426433|ENST00000431603	.|.	.|.	.|.	1.82|1.82	1.82|1.82	0.25136|0.25136	.|.	0.083051|.	0.50627|.	U|.	0.000111|.	T|.	0.32793|.	0.0841|.	.|.	.|.	.|.	0.25140|0.25140	N|N	0.990509|0.990509	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20472|.	-1.0274|.	6|.	0.40728|.	T|.	0.16|.	.|.	7.1814|7.1814	0.25774|0.25774	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	I|X	330|256	.|.	ENSP00000395902:M330I|.	M|W	-|-	3|2	0|0	CCNYL2|CCNYL2	42225633|42225633	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.477000|0.477000	0.33069|0.33069	2.156000|2.156000	0.42310|0.42310	1.328000|1.328000	0.45358|0.45358	0.298000|0.298000	0.19748|0.19748	ATG|TGG	-	CCNYL2	-	-		0.388	CCNYL2-002	KNOWN	basic	processed_transcript	CCNYL2	HGNC	pseudogene	OTTHUMT00000047670.5	0	0		30	30		0.00		C	XM_936368		42905627	-1	9		36		tier1	no_errors	ENST00000483242	ensembl	human	known	74_37	rna	20.00		SNP	0.998	T	9	36
AQP5	362	genome.wustl.edu	37	12	50355888	50355888	+	Missense_Mutation	SNP	G	G	A	rs139623970		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:50355888G>A	ENST00000293599.6	+	1	236	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	30					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						CTTTGGCCTGGGCTCGGCCCT	0.662													ENSG00000161798																																					0													62.0	44.0	50.0					12																	50355888		2203	4300	6503	SO:0001583	missense	0			-	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.88G>A	12.37:g.50355888G>A	ENSP00000293599:p.Gly30Ser		Q6FGW8	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP	p.G30S	ENST00000293599.6	37	c.88	CCDS8793.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205664	0.79127	.	.	ENSG00000161798	ENST00000293599	D	0.94723	-3.5	3.76	3.76	0.43208	Aquaporin-like (2);	0.100406	0.42420	D	0.000712	D	0.95909	0.8668	M	0.81682	2.555	0.51767	D	0.999935	P	0.45176	0.852	P	0.53809	0.735	D	0.95655	0.8710	10	0.48119	T	0.1	-9.1844	13.4687	0.61270	0.0:0.0:1.0:0.0	.	30	P55064	AQP5_HUMAN	S	30	ENSP00000293599:G30S	ENSP00000293599:G30S	G	+	1	0	AQP5	48642155	1.000000	0.71417	0.460000	0.27093	0.805000	0.45488	4.514000	0.60482	2.109000	0.64355	0.462000	0.41574	GGC	rs139623970	AQP5	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.662	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	HGNC	protein_coding	OTTHUMT00000405542.2	0	0		75	75		0.00		G	NM_001651		50355888	+1	26		58		tier1	no_errors	ENST00000293599	ensembl	human	known	74_37	missense	30.95		SNP	0.997	A	26	58
MAP2K6	5608	genome.wustl.edu	37	17	67519705	67519705	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:67519705T>A	ENST00000590474.1	+	8	873	c.586T>A	c.(586-588)Tgc>Agc	p.C196S	MAP2K6_ENST00000589647.1_Missense_Mutation_p.C140S	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AGTGAAGATGTGCGATTTTGG	0.453													ENSG00000108984																																					0													337.0	298.0	311.0					17																	67519705		2203	4300	6503	SO:0001583	missense	0			-	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.586T>A	17.37:g.67519705T>A	ENSP00000468348:p.Cys196Ser			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.C196S	ENST00000590474.1	37	c.586	CCDS11686.1	17	.	.	.	.	.	.	.	.	.	.	T	29.1	4.973290	0.92919	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.28504	0.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63189	-0.6693	8	.	.	.	-11.3369	15.1425	0.72620	0.0:0.0:0.0:1.0	.	196	P52564	MP2K6_HUMAN	S	196	.	.	C	+	1	0	MAP2K6	65031300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.824000	0.86668	2.302000	0.77476	0.533000	0.62120	TGC	-	MAP2K6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.453	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K6	HGNC	protein_coding	OTTHUMT00000450689.1	0	0		55	55		0.00		T	NM_002758		67519705	+1	16		47		tier1	no_errors	ENST00000590474	ensembl	human	known	74_37	missense	25.40		SNP	1.000	A	16	47
NFASC	23114	genome.wustl.edu	37	1	204953288	204953288	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:204953288G>A	ENST00000401399.1	+	20	2669				NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367172.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367170.4_Intron			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCCAGCTCCGGACTCACCTA	0.537													ENSG00000163531																																					0													48.0	45.0	46.0					1																	204953288		2203	4300	6503	SO:0001627	intron_variant	0			-	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2470+2140G>A	1.37:g.204953288G>A			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	R	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			-	NFASC	-	-		0.537	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	0	0		42	42		0.00		G	NM_001005388		204953288	+1	42		28		tier1	no_errors	ENST00000471392	ensembl	human	known	74_37	rna	60.00		SNP	0.001	A	42	28
RFFL	117584	genome.wustl.edu	37	17	33336005	33336011	+	3'UTR	DEL	CAAACTC	CAAACTC	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	CAAACTC	CAAACTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:33336005_33336011delCAAACTC	ENST00000315249.7	-	0	4290_4296				RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000580569.1_5'Flank					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		aggttggtctcaaactcctgagctcaa	0.488													ENSG00000224113																																					0																																										SO:0001624	3_prime_UTR_variant	0				AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.*2982GAGTTTG>-	17.37:g.33336005_33336011delCAAACTC				R	DEL	-	NULL	ENST00000315249.7	37	NULL	CCDS11286.1	17																																																																																				RP5-837J1.2	-	-		0.488	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224113	Clone_based_vega_gene	protein_coding	OTTHUMT00000256460.2									CAAACTC	NM_057178		33336011	+1					tier1	no_errors	ENST00000578488	ensembl	human	known	74_37	rna			DEL	0.108:0.111:0.111:0.111:0.108:0.104:0.098	-		
TAF1	6872	genome.wustl.edu	37	X	70595092	70595092	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70595092C>T	ENST00000373790.4	+	4	539	c.488C>T	c.(487-489)cCg>cTg	p.P163L	TAF1_ENST00000276072.3_Missense_Mutation_p.P163L|TAF1_ENST00000449580.1_Missense_Mutation_p.P163L|TAF1_ENST00000423759.1_Missense_Mutation_p.P163L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	163	Pro-rich.|Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P163L(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCTCCACCCCCGGGACCAATG	0.423													ENSG00000147133																																					1	Substitution - Missense(1)	breast(1)											128.0	109.0	115.0					X																	70595092		2203	4300	6503	SO:0001583	missense	0			-		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.488C>T	X.37:g.70595092C>T	ENSP00000362895:p.Pro163Leu		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P163L	ENST00000373790.4	37	c.488	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	13.75	2.330195	0.41297	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09350	2.99;3.05;3.06;3.01	5.04	3.28	0.37604	.	0.187360	0.46442	N	0.000286	T	0.07683	0.0193	L	0.41236	1.265	0.46823	D	0.99921	B;P	0.40931	0.008;0.733	B;B	0.31495	0.002;0.131	T	0.34527	-0.9825	10	0.27082	T	0.32	.	11.0251	0.47741	0.0:0.8434:0.0:0.1566	.	163;163	P21675;P21675-2	TAF1_HUMAN;.	L	163	ENSP00000362895:P163L;ENSP00000389000:P163L;ENSP00000406549:P163L;ENSP00000276072:P163L	ENSP00000276072:P163L	P	+	2	0	TAF1	70511817	0.078000	0.21339	0.934000	0.37439	0.911000	0.54048	3.423000	0.52756	0.467000	0.27218	-0.511000	0.04467	CCG	-	TAF1	-	pirsf_TAF1_animal		0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	0	0		86	86		0.00		C	NM_004606		70595092	+1	64		27		tier1	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	70.33		SNP	0.965	T	64	27
PTPRG	5793	genome.wustl.edu	37	3	62278334	62278334	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:62278334G>A	ENST00000474889.1	+	29	4568				PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000498655.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Intron|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		tgccccccaggggacatttgg	0.443													ENSG00000241472																																					0																																										SO:0001627	intron_variant	0			-	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.4191+103G>A	3.37:g.62278334G>A			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	R	SNP	-	NULL	ENST00000474889.1	37	NULL	CCDS2895.1	3																																																																																			-	PTPRG-AS1	-	-		0.443	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG-AS1	HGNC	protein_coding	OTTHUMT00000351674.1	0	0		16	16		0.00		G	NM_002841		62278334	-1	6		10		tier1	no_errors	ENST00000475371	ensembl	human	known	74_37	rna	37.50		SNP	0.000	A	6	10
UTRN	7402	genome.wustl.edu	37	6	144758851	144758851	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:144758851C>T	ENST00000367545.3	+	10	1210	c.1210C>T	c.(1210-1212)Ctt>Ttt	p.L404F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	404	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGGGAGGCTCTTAGGGTGGA	0.483													ENSG00000152818																																					0													115.0	99.0	104.0					6																	144758851		2203	4300	6503	SO:0001583	missense	0			-	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1210C>T	6.37:g.144758851C>T	ENSP00000356515:p.Leu404Phe		Q5SYY1|Q5SZ57|Q9UJ40	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,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.L404F	ENST00000367545.3	37	c.1210	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268424	0.80469	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.71817	-0.6	5.45	4.58	0.56647	.	0.000000	0.44688	D	0.000434	D	0.83326	0.5230	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87429	0.2387	10	0.87932	D	0	.	13.9341	0.64015	0.0:0.9271:0.0:0.0729	.	404	P46939	UTRO_HUMAN	F	404	ENSP00000356515:L404F	ENSP00000356499:L404F	L	+	1	0	UTRN	144800544	1.000000	0.71417	0.017000	0.16124	0.941000	0.58515	4.976000	0.63785	1.297000	0.44761	0.655000	0.94253	CTT	-	UTRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	0	0		108	108		0.00		C			144758851	+1	59		101		tier1	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	36.42		SNP	0.994	T	59	101
TBC1D5	9779	genome.wustl.edu	37	3	17448008	17448008	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:17448008C>T	ENST00000253692.7	-	5	1842	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	TBC1D5_ENST00000429383.4_Missense_Mutation_p.E60K|TBC1D5_ENST00000446818.2_Missense_Mutation_p.E60K|TBC1D5_ENST00000429924.2_Missense_Mutation_p.E12K|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	60						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AATAGTTCTTCCCATTCTTTC	0.388													ENSG00000131374																																					0													150.0	140.0	143.0					3																	17448008		2203	4300	6503	SO:0001583	missense	0			-	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.178G>A	3.37:g.17448008C>T	ENSP00000253692:p.Glu60Lys		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E60K	ENST00000253692.7	37	c.178	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860982	0.51482	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877;ENST00000446863;ENST00000434420	T;T;T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.51	5.51	0.81932	Rab-GAP/TBC domain (1);	0.136125	0.64402	D	0.000003	T	0.24699	0.0599	L	0.54323	1.7	0.58432	D	0.999994	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.14578	0.004;0.011;0.007	T	0.05162	-1.0902	10	0.20519	T	0.43	-15.838	19.7818	0.96418	0.0:1.0:0.0:0.0	.	12;60;60	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	K	60;60;60;12;60;60;60;60;60;60;60;60	ENSP00000253692:E60K;ENSP00000398127:E60K;ENSP00000402935:E60K;ENSP00000411925:E12K;ENSP00000396239:E60K;ENSP00000387395:E60K;ENSP00000399967:E60K;ENSP00000410596:E60K;ENSP00000393882:E60K;ENSP00000424998:E60K;ENSP00000415379:E60K;ENSP00000414159:E60K	ENSP00000253692:E60K	E	-	1	0	TBC1D5	17423012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.248000	0.65421	2.736000	0.93811	0.655000	0.94253	GAA	-	TBC1D5	-	superfamily_Rab-GTPase-TBC_dom		0.388	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	0	0		49	49		0.00		C	NM_014744		17448008	-1	7		44		tier1	no_errors	ENST00000253692	ensembl	human	known	74_37	missense	13.73		SNP	1.000	T	7	44
ACKR2	1238	genome.wustl.edu	37	3	42897886	42897886	+	Intron	SNP	C	C	T	rs540560535	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:42897886C>T	ENST00000422265.1	+	3	138				ACKR2_ENST00000273145.2_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.M475I|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2						chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TGAATAGTTCCATCAGCCATG	0.498													ENSG00000180432																																					0																																										SO:0001627	intron_variant	0			-	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.-37-8072C>T	3.37:g.42897886C>T			B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.M475I	ENST00000422265.1	37	c.1425	CCDS2706.1	3	.	.	.	.	.	.	.	.	.	.	C	9.084	1.000035	0.19121	.	.	ENSG00000180432	ENST00000437102	T	0.65549	-0.16	2.76	1.82	0.25136	.	.	.	.	.	T	0.44540	0.1298	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.27434	-1.0074	8	0.33141	T	0.24	.	6.5543	0.22452	0.3031:0.6969:0.0:0.0	.	475	C9JFR9	.	I	475	ENSP00000404499:M475I	ENSP00000404499:M475I	M	-	3	0	CYP8B1	42872890	0.277000	0.24220	0.007000	0.13788	0.003000	0.03518	0.019000	0.13444	0.646000	0.30693	0.655000	0.94253	ATG	-	CYP8B1	-	NULL		0.498	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256645.2	0	0		84	84		0.00		C	NM_001296		42897886	-1	40		76		tier1	no_errors	ENST00000437102	ensembl	human	novel	74_37	missense	34.48		SNP	0.008	T	40	76
ZKSCAN2	342357	genome.wustl.edu	37	16	25255458	25255458	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:25255458G>A	ENST00000328086.7	-	6	2432	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	543					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTGTCCGGAGGAAGCCGCACT	0.512													ENSG00000155592																																					0													76.0	75.0	75.0					16																	25255458		2197	4300	6497	SO:0001819	synonymous_variant	0			-	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1629C>T	16.37:g.25255458G>A			A1L3B4|Q6ZN77	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F543	ENST00000328086.7	37	c.1629	CCDS32410.1	16																																																																																			-	ZKSCAN2	-	NULL		0.512	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	0	0		44	44		0.00		G	NM_001012981		25255458	-1	21		53		tier1	no_errors	ENST00000328086	ensembl	human	known	74_37	silent	28.38		SNP	1.000	A	21	53
KIAA0556	23247	genome.wustl.edu	37	16	27761019	27761019	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:27761019G>T	ENST00000261588.4	+	16	2757	c.2738G>T	c.(2737-2739)cGc>cTc	p.R913L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	913						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CACCGGGGACGCATCTCCAAC	0.647													ENSG00000047578																																					0													56.0	54.0	54.0					16																	27761019		2197	4300	6497	SO:0001583	missense	0			-	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2738G>T	16.37:g.27761019G>T	ENSP00000261588:p.Arg913Leu		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.R913L	ENST00000261588.4	37	c.2738	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.206853	0.95033	.	.	ENSG00000047578	ENST00000261588	T	0.30981	1.51	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	M	0.68952	2.095	0.51767	D	0.999939	D	0.89917	1.0	D	0.97110	1.0	T	0.60571	-0.7237	10	0.87932	D	0	-1.33	17.6464	0.88149	0.0:0.0:1.0:0.0	.	913	O60303	K0556_HUMAN	L	913	ENSP00000261588:R913L	ENSP00000261588:R913L	R	+	2	0	KIAA0556	27668520	1.000000	0.71417	0.993000	0.49108	0.893000	0.52053	9.008000	0.93601	2.320000	0.78422	0.655000	0.94253	CGC	-	KIAA0556	-	NULL		0.647	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	0	0		27	27		0.00		G	NM_015202		27761019	+1	7		42		tier1	no_errors	ENST00000261588	ensembl	human	known	74_37	missense	14.29		SNP	1.000	T	7	42
ZBTB20	26137	genome.wustl.edu	37	3	114069530	114069530	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:114069530G>A	ENST00000474710.1	-	4	1573	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	ZBTB20_ENST00000481632.1_Silent_p.S392S|ZBTB20_ENST00000462705.1_Silent_p.S392S|ZBTB20_ENST00000464560.1_Silent_p.S392S|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.S392S|ZBTB20_ENST00000471418.1_Silent_p.S392S|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.S392S	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	465				S -> F (in Ref. 1; AAG28340). {ECO:0000305}.		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 negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGCCCGATGGACGTGTTGA	0.552													ENSG00000181722																									NSCLC(69;748 1344 9802 11203 30933)												0													128.0	86.0	100.0					3																	114069530		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1395C>T	3.37:g.114069530G>A			Q63HP6|Q8N6R5|Q9Y410	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.S465	ENST00000474710.1	37	c.1395	CCDS54626.1	3																																																																																			-	ZBTB20	-	NULL		0.552	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	0	0		29	29		0.00		G	NM_015642		114069530	-1	11		33		tier1	no_errors	ENST00000474710	ensembl	human	known	74_37	silent	25.00		SNP	0.803	A	11	33
MYO18A	399687	genome.wustl.edu	37	17	27414025	27414025	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:27414025G>A	ENST00000527372.1	-	38	5821	c.5641C>T	c.(5641-5643)Cgg>Tgg	p.R1881W	TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1844W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1881W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1881W|MYO18A_ENST00000529578.1_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1881					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGGTGTCCCGGAGCTGCCTC	0.617													ENSG00000196535																									Esophageal Squamous(182;472 2015 7001 15270 22562)												0													50.0	57.0	55.0					17																	27414025		2065	4176	6241	SO:0001583	missense	0			-	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5641C>T	17.37:g.27414025G>A	ENSP00000437073:p.Arg1881Trp		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.R1881W	ENST00000527372.1	37	c.5641	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156492	0.78114	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	D;D;D;D	0.89617	-2.4;-2.54;-2.4;-2.4	5.18	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.986	D	0.94075	0.7339	10	0.87932	D	0	.	12.906	0.58152	0.0:0.0:0.586:0.4139	.	1484;1844;1881;1881	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	W	1881;1844;1844;1881;1881;777;777;1484;162	ENSP00000346291:R1881W;ENSP00000435932:R1844W;ENSP00000434228:R1881W;ENSP00000437073:R1881W	ENSP00000346291:R1881W	R	-	1	2	MYO18A	24438151	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.124000	0.42006	1.525000	0.49052	0.561000	0.74099	CGG	-	MYO18A	-	superfamily_Regulat_G_prot_signal_superfam		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	0	0		17	17		0.00		G	NM_078471		27414025	-1	6		21		tier1	no_errors	ENST00000354329	ensembl	human	known	74_37	missense	22.22		SNP	0.998	A	6	21
SDCBP2	27111	genome.wustl.edu	37	20	1299017	1299017	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1299017G>A	ENST00000360779.3	-	4	343	c.170C>T	c.(169-171)tCc>tTc	p.S57F	SDCBP2_ENST00000339987.3_Missense_Mutation_p.S57F|SDCBP2_ENST00000381812.1_Missense_Mutation_p.S57F	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	57					intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GCTGGAGAGGGAAAGACCCAT	0.473													ENSG00000125775																																					0													83.0	84.0	83.0					20																	1299017		1876	4111	5987	SO:0001583	missense	0			-	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.170C>T	20.37:g.1299017G>A	ENSP00000354013:p.Ser57Phe		O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S57F	ENST00000360779.3	37	c.170	CCDS42848.1	20	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935214	0.52866	.	.	ENSG00000125775	ENST00000381812;ENST00000360779;ENST00000339987	T;T;T	0.33654	1.4;1.4;1.4	4.82	4.82	0.62117	.	0.219735	0.39687	N	0.001295	T	0.60869	0.2302	M	0.80982	2.52	0.43879	D	0.996494	D;B	0.89917	1.0;0.34	D;B	0.76575	0.988;0.091	T	0.65849	-0.6068	10	0.87932	D	0	-19.9261	13.2777	0.60196	0.0:0.0:1.0:0.0	.	57;57	B4DKI5;Q9H190	.;SDCB2_HUMAN	F	57	ENSP00000371233:S57F;ENSP00000354013:S57F;ENSP00000342935:S57F	ENSP00000342935:S57F	S	-	2	0	SDCBP2	1247017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.415000	0.59809	2.497000	0.84241	0.655000	0.94253	TCC	-	SDCBP2	-	NULL		0.473	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCBP2	HGNC	protein_coding	OTTHUMT00000077513.2	0	0		15	15		0.00		G	NM_080489		1299017	-1	9		18		tier1	no_errors	ENST00000339987	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	9	18
ADNP	23394	genome.wustl.edu	37	20	49510023	49510023	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:49510023G>A	ENST00000396029.3	-	5	1795	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	ADNP_ENST00000349014.3_Missense_Mutation_p.P410S|ADNP_ENST00000396032.3_Missense_Mutation_p.P410S|ADNP_ENST00000371602.4_Missense_Mutation_p.P410S	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	410					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GAGAGGGAAGGAGACTTTAAC	0.557													ENSG00000101126																																					0													106.0	108.0	107.0					20																	49510023		2203	4300	6503	SO:0001583	missense	0			-	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1228C>T	20.37:g.49510023G>A	ENSP00000379346:p.Pro410Ser		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P410S	ENST00000396029.3	37	c.1228	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	G	6.576	0.474560	0.12521	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.08	3.97	0.46021	.	0.411624	0.30159	N	0.010261	T	0.13927	0.0337	N	0.03608	-0.345	0.33290	D	0.563466	B	0.02656	0.0	B	0.01281	0.0	T	0.13469	-1.0508	9	0.10902	T	0.67	-19.3374	1.0279	0.01532	0.2093:0.1414:0.4208:0.2285	.	410	Q9H2P0	ADNP_HUMAN	S	410	.	ENSP00000342905:P410S	P	-	1	0	ADNP	48943430	0.698000	0.27777	0.999000	0.59377	0.993000	0.82548	0.215000	0.17562	1.588000	0.49971	0.655000	0.94253	CCT	-	ADNP	-	NULL		0.557	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	0	0		60	60		0.00		G	NM_181442		49510023	-1	40		60		tier1	no_errors	ENST00000349014	ensembl	human	known	74_37	missense	40.00		SNP	0.726	A	40	60
VCAN	1462	genome.wustl.edu	37	5	82876460	82876460	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:82876460G>A	ENST00000265077.3	+	0	10963				VCAN_ENST00000343200.5_3'UTR|VCAN_ENST00000342785.4_3'UTR|VCAN_ENST00000512590.2_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAAATGAGAGCAGAAAGTAA	0.373													ENSG00000038427																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.*207G>A	5.37:g.82876460G>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	R	SNP	-	NULL	ENST00000265077.3	37	NULL	CCDS4060.1	5																																																																																			-	VCAN	-	-		0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	0	0		49	49		0.00		G	NM_004385		82876460	+1	16		41		tier1	no_errors	ENST00000513016	ensembl	human	known	74_37	rna	28.07		SNP	0.380	A	16	41
DCLK2	166614	genome.wustl.edu	37	4	151153862	151153862	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:151153862C>T	ENST00000296550.7	+	10	2202	c.1448C>T	c.(1447-1449)tCg>tTg	p.S483L	DCLK2_ENST00000506325.1_Missense_Mutation_p.S482L|DCLK2_ENST00000302176.8_Missense_Mutation_p.S500L	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S500L(1)|p.S483L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCAATTACTTCGTCGACCAAG	0.448													ENSG00000170390																									GBM(195;186 2215 13375 16801 37459)												2	Substitution - Missense(2)	prostate(2)											242.0	213.0	223.0					4																	151153862		2203	4300	6503	SO:0001583	missense	0			-	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1448C>T	4.37:g.151153862C>T	ENSP00000296550:p.Ser483Leu		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.S500L	ENST00000296550.7	37	c.1499	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877174	0.91664	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.66460	-0.21;-0.21;-0.21	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	L	0.42487	1.325	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.978	P;P;P	0.59546	0.8;0.859;0.75	T	0.75462	-0.3309	10	0.62326	D	0.03	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	500;482;483	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	L	483;482;500	ENSP00000296550:S483L;ENSP00000427235:S482L;ENSP00000303887:S500L	ENSP00000296550:S483L	S	+	2	0	DCLK2	151373312	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.025000	0.70864	2.865000	0.98341	0.655000	0.94253	TCG	-	DCLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.448	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	0	0		52	52		0.00		C	NM_001040260		151153862	+1	18		43		tier1	no_errors	ENST00000302176	ensembl	human	known	74_37	missense	29.51		SNP	1.000	T	18	43
SGSM1	129049	genome.wustl.edu	37	22	25251313	25251313	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:25251313C>T	ENST00000400359.4	+	7	592	c.585C>T	c.(583-585)ccC>ccT	p.P195P	SGSM1_ENST00000400358.4_Silent_p.P195P	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	195						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGACCGATCCCTCGGCTGACG	0.632													ENSG00000167037																																					0													31.0	34.0	33.0					22																	25251313		2084	4213	6297	SO:0001819	synonymous_variant	0			-	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.585C>T	22.37:g.25251313C>T			A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	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.P195	ENST00000400359.4	37	c.585	CCDS46674.1	22																																																																																			-	SGSM1	-	NULL		0.632	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	0	0		26	26		0.00		C	XM_059318		25251313	+1	11		23		tier1	no_errors	ENST00000400359	ensembl	human	known	74_37	silent	32.35		SNP	0.987	T	11	23
PLXNA4	91584	genome.wustl.edu	37	7	132070006	132070006	+	Intron	SNP	G	G	A	rs541062490		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:132070006G>A	ENST00000359827.3	-	4	2334				PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Nonsense_Mutation_p.R474*			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGTGGGATCGGGGTCCCGTC	0.493													ENSG00000221866	G|||	1	0.000199681	0.0	0.0	5008	,	,		18541	0.0		0.0	False		,,,				2504	0.001																0													83.0	84.0	84.0					7																	132070006		1922	4132	6054	SO:0001627	intron_variant	0			-	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1372-87025C>T	7.37:g.132070006G>A			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	p.R474*	ENST00000359827.3	37	c.1420	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903384	0.72754	.	.	ENSG00000221866	ENST00000423507	.	.	.	5.23	-3.05	0.05396	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.665	0.17690	0.0:0.2494:0.3963:0.3543	.	.	.	.	X	474	.	ENSP00000392772:R474X	R	-	1	2	PLXNA4	131720546	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.306000	0.08178	-0.573000	0.05998	-0.311000	0.09066	CGA	-	PLX4	-	smart_Semap_dom,pfscan_Semap_dom		0.493	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLX4	HGNC	protein_coding	OTTHUMT00000338422.2	0	0		42	42		0.00		G	NM_181775		132070006	-1	23		37		tier1	no_errors	ENST00000423507	ensembl	human	known	74_37	nonsense	38.33		SNP	0.000	A	23	37
DHX8	1659	genome.wustl.edu	37	17	41571141	41571141	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:41571141C>T	ENST00000262415.3	+	8	1171	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	DHX8_ENST00000540306.1_Missense_Mutation_p.P367S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	367					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AATGCGGAATCCTGATAGACC	0.517													ENSG00000067596																									NSCLC(56;1548 1661 49258 49987)												0													170.0	178.0	175.0					17																	41571141		2203	4300	6503	SO:0001583	missense	0			-	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1099C>T	17.37:g.41571141C>T	ENSP00000262415:p.Pro367Ser			Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_R-bd_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_R-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P367S	ENST00000262415.3	37	c.1099	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163550	0.78226	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.02974	4.09;4.1	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	M	0.71581	2.175	0.80722	D	1	P;B	0.49635	0.926;0.23	P;B	0.54346	0.749;0.032	T	0.08027	-1.0742	10	0.26408	T	0.33	.	19.0289	0.92946	0.0:1.0:0.0:0.0	.	367;367	F5H658;Q14562	.;DHX8_HUMAN	S	367	ENSP00000437886:P367S;ENSP00000262415:P367S	ENSP00000262415:P367S	P	+	1	0	DHX8	38926667	1.000000	0.71417	0.883000	0.34634	0.964000	0.63967	7.453000	0.80700	2.746000	0.94184	0.561000	0.74099	CCT	-	DHX8	-	NULL		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	0	0		133	133		0.00		C			41571141	+1	31		120		tier1	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	20.53		SNP	1.000	T	31	120
AP5Z1	9907	genome.wustl.edu	37	7	4820926	4820926	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:4820926C>T	ENST00000348624.4	+	2	256	c.162C>T	c.(160-162)gcC>gcT	p.A54A	AP5Z1_ENST00000401897.1_Silent_p.A54A	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	54					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCATCTCAGCCACGAAGTACA	0.627													ENSG00000242802																																					0													41.0	47.0	45.0					7																	4820926		2114	4245	6359	SO:0001819	synonymous_variant	0			-	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.162C>T	7.37:g.4820926C>T			Q8N3X2|Q96H80	Silent	SNP	NULL	p.A54	ENST00000348624.4	37	c.162	CCDS47528.1	7																																																																																			-	AP5Z1	-	NULL		0.627	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	0	0		42	42		0.00		C			4820926	+1	22		43		tier1	no_errors	ENST00000348624	ensembl	human	known	74_37	silent	33.85		SNP	1.000	T	22	43
PCDHGB3	56102	genome.wustl.edu	37	5	140750452	140750452	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140750452T>A	ENST00000576222.1	+	1	622	c.491T>A	c.(490-492)gTc>gAc	p.V164D	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	164	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTAGGTGTCAATTCGCTG	0.502													ENSG00000262209																																					0													213.0	210.0	211.0					5																	140750452		2039	4185	6224	SO:0001583	missense	0			-	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.491T>A	5.37:g.140750452T>A	ENSP00000461862:p.Val164Asp		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V164D	ENST00000576222.1	37	c.491	CCDS58980.1	5																																																																																			-	PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	0	0		50	50		0.00		T	NM_018924		140750452	+1	25		51		tier1	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	32.89		SNP	0.000	A	25	51
PCDHGA10	56106	genome.wustl.edu	37	5	140794683	140794683	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140794683A>G	ENST00000398610.2	+	1	1941	c.1941A>G	c.(1939-1941)gtA>gtG	p.V647V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCCTCGTAGTGGCCGTCC	0.711													ENSG00000253846																																					0													49.0	59.0	55.0					5																	140794683		2201	4296	6497	SO:0001819	synonymous_variant	0			-		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1941A>G	5.37:g.140794683A>G			Q9Y5E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V647	ENST00000398610.2	37	c.1941	CCDS47292.1	5																																																																																			-	PCDHGA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.711	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	HGNC	protein_coding	OTTHUMT00000374747.1	0	0		66	66		0.00		A	NM_018913		140794683	+1	27		67		tier1	no_errors	ENST00000398610	ensembl	human	known	74_37	silent	28.72		SNP	1.000	G	27	67
SUSD5	26032	genome.wustl.edu	37	3	33194381	33194381	+	Silent	SNP	G	G	A	rs112313653		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:33194381G>A	ENST00000309558.3	-	5	2160	c.1743C>T	c.(1741-1743)acC>acT	p.T581T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	581					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCACAGGACGGTGACAATGG	0.612													ENSG00000173705																																					0								G		0,4406		0,0,2203	57.0	61.0	60.0		1743	-11.6	0.0	3	dbSNP_132	60	4,8592	3.0+/-9.4	0,4,4294	no	coding-synonymous	SUSD5	NM_015551.1		0,4,6497	AA,AG,GG		0.0465,0.0,0.0308		581/630	33194381	4,12998	2203	4298	6501	SO:0001819	synonymous_variant	0			-	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1743C>T	3.37:g.33194381G>A				Silent	SNP	pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP	p.T581	ENST00000309558.3	37	c.1743	CCDS46787.1	3																																																																																			rs112313653	SUSD5	-	NULL		0.612	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	HGNC	protein_coding	OTTHUMT00000341902.1	0	0		33	33		0.00		G	XM_171054		33194381	-1	18		25		tier1	no_errors	ENST00000309558	ensembl	human	known	74_37	silent	41.86		SNP	0.004	A	18	25
GNGT1	2792	genome.wustl.edu	37	7	93538820	93538820	+	Intron	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:93538820A>C	ENST00000248572.5	+	3	244				GNGT1_ENST00000455502.1_Missense_Mutation_p.Q41P|GNGT1_ENST00000429473.1_Intron|GNGT1_ENST00000428834.1_Missense_Mutation_p.Q41P|GNGT1_ENST00000430875.1_Missense_Mutation_p.Q41P	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1						cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTCAAAACCAATCCCTTATG	0.388													ENSG00000127928																																					0																																										SO:0001627	intron_variant	0			-		CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.97-1282A>C	7.37:g.93538820A>C			A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Missense_Mutation	SNP	superfamily_G-protein_gamma-like_dom	p.Q41P	ENST00000248572.5	37	c.122	CCDS5633.1	7	.	.	.	.	.	.	.	.	.	.	A	4.296	0.054211	0.08291	.	.	ENSG00000127928	ENST00000455502;ENST00000430875;ENST00000428834	.	.	.	2.41	2.41	0.29592	.	.	.	.	.	T	0.41305	0.1153	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35101	-0.9802	5	0.87932	D	0	.	6.761	0.23540	1.0:0.0:0.0:0.0	.	.	.	.	P	41	.	ENSP00000401781:Q41P	Q	+	2	0	GNGT1	93376756	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	0.392000	0.20801	1.345000	0.45676	0.528000	0.53228	CAA	-	GNGT1	-	NULL		0.388	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNGT1	HGNC	protein_coding	OTTHUMT00000254718.2	0	0		92	92		0.00		A	NM_021955		93538820	+1	59		72		tier1	no_errors	ENST00000428834	ensembl	human	putative	74_37	missense	45.04		SNP	0.001	C	59	72
SRRM2	23524	genome.wustl.edu	37	16	2817350	2817350	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2817350G>A	ENST00000301740.8	+	11	7370	c.6821G>A	c.(6820-6822)aGa>aAa	p.R2274K	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2274	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						GCCAGCCCCAGAACAGCGGTG	0.637													ENSG00000167978																																					0													85.0	89.0	87.0					16																	2817350		2198	4300	6498	SO:0001583	missense	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.6821G>A	16.37:g.2817350G>A	ENSP00000301740:p.Arg2274Lys		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mR_splic_Cwf21	p.R2274K	ENST00000301740.8	37	c.6821	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084124	0.55861	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79247	-1.25	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.81470	0.4829	L	0.34521	1.04	0.32224	N	0.574861	P	0.52842	0.956	D	0.65010	0.931	T	0.83003	-0.0176	10	0.44086	T	0.13	-13.3508	15.4828	0.75542	0.0:0.0:1.0:0.0	.	2274	Q9UQ35	SRRM2_HUMAN	K	2274;1526	ENSP00000301740:R2274K	ENSP00000301740:R2274K	R	+	2	0	SRRM2	2757351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.728000	0.93425	0.655000	0.94253	AGA	-	SRRM2	-	NULL		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	0	0		32	32		0.00		G			2817350	+1	9		30		tier1	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	23.08		SNP	1.000	A	9	30
SF3B2	10992	genome.wustl.edu	37	11	65826321	65826321	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65826321C>T	ENST00000322535.6	+	10	1036	c.987C>T	c.(985-987)aaC>aaT	p.N329N	SF3B2_ENST00000528302.1_Silent_p.N312N	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	329					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGCGTAGGAACCGAAAGAAGA	0.582													ENSG00000087365																																					0													34.0	40.0	38.0					11																	65826321		2201	4294	6495	SO:0001819	synonymous_variant	0			-	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.987C>T	11.37:g.65826321C>T			A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.N329	ENST00000322535.6	37	c.987	CCDS31612.1	11																																																																																			-	SF3B2	-	NULL		0.582	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	0	0		67	67		0.00		C			65826321	+1	42		74		tier1	no_errors	ENST00000322535	ensembl	human	known	74_37	silent	36.21		SNP	1.000	T	42	74
KIAA0368	23392	genome.wustl.edu	37	9	114213754	114213754	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:114213754G>A	ENST00000338205.5	-	2	323	c.104C>T	c.(103-105)cCt>cTt	p.P35L	KIAA0368_ENST00000259335.4_Missense_Mutation_p.P213L			Q5VYK3	ECM29_HUMAN	KIAA0368	41					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAAAACAGGAGGAAGGAATTT	0.353													ENSG00000136813																																					0													59.0	55.0	56.0					9																	114213754		1833	4091	5924	SO:0001583	missense	0			-	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.104C>T	9.37:g.114213754G>A	ENSP00000339889:p.Pro35Leu		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P213L	ENST00000338205.5	37	c.638		9	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855599	0.91355	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.50813	0.73	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.55817	-0.8081	10	0.30078	T	0.28	.	19.5072	0.95124	0.0:0.0:1.0:0.0	.	41	Q5VYK3	ECM29_HUMAN	L	35;213	ENSP00000259335:P213L	ENSP00000259335:P213L	P	-	2	0	KIAA0368	113253575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.607000	0.88179	0.591000	0.81541	CCT	-	KIAA0368	-	superfamily_ARM-type_fold		0.353	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	0	0		99	99		0.00		G	NM_014686		114213754	-1	38		61		tier1	no_errors	ENST00000259335	ensembl	human	known	74_37	missense	38.38		SNP	1.000	A	38	61
CREG2	200407	genome.wustl.edu	37	2	102000094	102000094	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:102000094G>A	ENST00000324768.5	-	2	649	c.512C>T	c.(511-513)cCt>cTt	p.P171L	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	171						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GTAGAAGAAAGGAATCCCAGT	0.517													ENSG00000175874																																					0													101.0	99.0	99.0					2																	102000094		2203	4300	6503	SO:0001583	missense	0			-	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.512C>T	2.37:g.102000094G>A	ENSP00000315203:p.Pro171Leu		Q86X03|Q8N540|Q8N9E3	Missense_Mutation	SNP	superfamily_Split_barrel_FMN-bd,pirsf_CREG	p.P171L	ENST00000324768.5	37	c.512	CCDS2052.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016554	0.75161	.	.	ENSG00000175874	ENST00000324768	T	0.50813	0.73	5.93	5.93	0.95920	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.127883	0.53938	D	0.000051	T	0.55401	0.1918	M	0.62088	1.915	0.80722	D	1	P	0.46784	0.884	P	0.45794	0.493	T	0.53697	-0.8402	10	0.44086	T	0.13	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	171	Q8IUH2	CREG2_HUMAN	L	171	ENSP00000315203:P171L	ENSP00000315203:P171L	P	-	2	0	CREG2	101366526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.715000	0.74697	2.808000	0.96608	0.655000	0.94253	CCT	-	CREG2	-	superfamily_Split_barrel_FMN-bd,pirsf_CREG		0.517	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREG2	HGNC	protein_coding	OTTHUMT00000253188.2	0	0		75	75		0.00		G	NM_153836		102000094	-1	28		45		tier1	no_errors	ENST00000324768	ensembl	human	known	74_37	missense	37.84		SNP	1.000	A	28	45
PCDHB7	56129	genome.wustl.edu	37	5	140554454	140554454	+	Nonsense_Mutation	SNP	C	C	T	rs143161042	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140554454C>T	ENST00000231137.3	+	1	2212	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	680					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCCGGACCAGGCCAACTC	0.701													ENSG00000113212	C|||	7	0.00139776	0.0053	0.0	5008	,	,		21601	0.0		0.0	False		,,,				2504	0.0																0								C	stop/GLN	6,4384		0,6,2189	53.0	86.0	75.0		2038	2.8	0.0	5	dbSNP_134	75	0,8584		0,0,4292	no	stop-gained	PCDHB7	NM_018940.2		0,6,6481	TT,TC,CC		0.0,0.1367,0.0462		680/794	140554454	6,12968	2195	4292	6487	SO:0001587	stop_gained	0			-	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2038C>T	5.37:g.140554454C>T	ENSP00000231137:p.Gln680*		A1L3Y8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q680*	ENST00000231137.3	37	c.2038	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.680960	0.96774	0.001367	0.0	ENSG00000113212	ENST00000231137	.	.	.	3.77	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.7132	0.23288	0.0:0.7175:0.1821:0.1004	.	.	.	.	X	680	.	ENSP00000231137:Q680X	Q	+	1	0	PCDHB7	140534638	0.047000	0.20315	0.010000	0.14722	0.213000	0.24496	0.423000	0.21313	1.808000	0.52836	0.449000	0.29647	CAG	rs143161042	PCDHB7	-	NULL		0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	0	0		82	82		0.00		C	NM_018940		140554454	+1	32		120		tier1	no_errors	ENST00000231137	ensembl	human	known	74_37	nonsense	21.05		SNP	0.014	T	32	120
TPTE	7179	genome.wustl.edu	37	21	10916410	10916410	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:10916410C>T	ENST00000361285.4	-	20	1565	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	TPTE_ENST00000342420.5_Silent_p.R374R|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Silent_p.R394R	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	412	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAAAGAGTATCCGTCTTGGAG	0.388													ENSG00000166157																																					0													129.0	118.0	122.0					21																	10916410		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1236G>A	21.37:g.10916410C>T			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R412	ENST00000361285.4	37	c.1236	CCDS13560.2	21																																																																																			-	TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	0	0		383	383		0.00		C			10916410	-1	69		439		tier1	no_errors	ENST00000361285	ensembl	human	known	74_37	silent	13.53		SNP	0.001	T	69	439
DPF2	5977	genome.wustl.edu	37	11	65108975	65108975	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65108975C>T	ENST00000528416.1	+	4	540	c.407C>T	c.(406-408)cCc>cTc	p.P136L	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.P136L|DPF2_ENST00000415073.2_Missense_Mutation_p.P136L	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	136					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GCCCCGGATCCCCGAGTTGAT	0.562													ENSG00000133884																																					0													87.0	78.0	81.0					11																	65108975		2201	4297	6498	SO:0001583	missense	0			-	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.407C>T	11.37:g.65108975C>T	ENSP00000436901:p.Pro136Leu		A8K7C9|B4DT58	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.P136L	ENST00000528416.1	37	c.407	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235291	0.39498	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.90676	-2.49;-2.71;-2.46	5.31	5.31	0.75309	.	0.000000	0.37437	N	0.002095	D	0.86268	0.5892	L	0.39898	1.24	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.81258	-0.1014	10	0.20046	T	0.44	-13.9141	16.4845	0.84181	0.0:1.0:0.0:0.0	.	136;136	B4DT58;Q92785	.;REQU_HUMAN	L	136	ENSP00000436901:P136L;ENSP00000399714:P136L;ENSP00000252268:P136L	ENSP00000252268:P136L	P	+	2	0	DPF2	64865551	0.879000	0.30193	1.000000	0.80357	0.960000	0.62799	3.315000	0.51951	2.507000	0.84556	0.467000	0.42956	CCC	-	DPF2	-	NULL		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	HGNC	protein_coding	OTTHUMT00000387293.3	0	0		59	59		0.00		C	NM_006268		65108975	+1	35		73		tier1	no_errors	ENST00000528416	ensembl	human	known	74_37	missense	32.41		SNP	1.000	T	35	73
DYNC1I1	1780	genome.wustl.edu	37	7	95657551	95657551	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:95657551C>T	ENST00000324972.6	+	11	1278	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S325L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S342L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S325L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S345L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S345L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	362					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGACTTACTCGGGCCAGATT	0.532													ENSG00000158560																																					0													218.0	189.0	199.0					7																	95657551		2203	4300	6503	SO:0001583	missense	0			-	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1085C>T	7.37:g.95657551C>T	ENSP00000320130:p.Ser362Leu		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S362L	ENST00000324972.6	37	c.1085	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.632398	0.96682	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.989;0.995;0.995;0.989;0.989	T	0.75187	-0.3406	10	0.87932	D	0	-17.0481	18.9501	0.92638	0.0:1.0:0.0:0.0	.	345;342;345;362;325	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	L	345;362;325;342;325;345	ENSP00000392337:S345L;ENSP00000320130:S362L;ENSP00000438377:S325L;ENSP00000398118:S342L;ENSP00000352348:S325L;ENSP00000412444:S345L	ENSP00000320130:S362L	S	+	2	0	DYNC1I1	95495487	1.000000	0.71417	0.744000	0.31058	0.998000	0.95712	7.651000	0.83577	2.788000	0.95919	0.585000	0.79938	TCG	-	DYNC1I1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.532	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	0	0		51	51		0.00		C	NM_004411		95657551	+1	21		72		tier1	no_errors	ENST00000324972	ensembl	human	known	74_37	missense	22.58		SNP	1.000	T	21	72
SPTBN4	57731	genome.wustl.edu	37	19	41063225	41063225	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41063225C>T	ENST00000352632.3	+	26	5672	c.5586C>T	c.(5584-5586)acC>acT	p.T1862T	SPTBN4_ENST00000392025.1_Silent_p.T605T|SPTBN4_ENST00000595535.1_Silent_p.T1862T|SPTBN4_ENST00000598249.1_Silent_p.T1862T|SPTBN4_ENST00000338932.3_Silent_p.T1862T|SPTBN4_ENST00000392023.1_Silent_p.T538T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1862					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTGACCACCCCGCCTGAGC	0.657													ENSG00000160460																																					0													30.0	33.0	32.0					19																	41063225		2193	4282	6475	SO:0001819	synonymous_variant	0			-	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5586C>T	19.37:g.41063225C>T			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T1862	ENST00000352632.3	37	c.5586	CCDS12559.1	19																																																																																			-	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	0	0		65	65		0.00		C			41063225	+1	45		32		tier1	no_errors	ENST00000352632	ensembl	human	known	74_37	silent	57.69		SNP	0.009	T	45	32
VAV2	7410	genome.wustl.edu	37	9	136634550	136634550	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136634550G>A	ENST00000371850.3	-	28	2454	c.2423C>T	c.(2422-2424)cCc>cTc	p.P808L	VAV2_ENST00000371851.1_Missense_Mutation_p.P798L|VAV2_ENST00000406606.3_Intron	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	808					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)		TGACCAGAAGGGAGCGGAGGG	0.637													ENSG00000160293																																					0													46.0	45.0	46.0					9																	136634550		1564	3578	5142	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.2423C>T	9.37:g.136634550G>A	ENSP00000360916:p.Pro808Leu		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.P808L	ENST00000371850.3	37	c.2423	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619063	0.87460	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000325440	T;T	0.17213	2.29;2.29	4.29	4.29	0.51040	Src homology-3 domain (1);	0.000000	0.64402	D	0.000002	T	0.30665	0.0772	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11916	-1.0568	10	0.87932	D	0	.	15.7299	0.77792	0.0:0.0:1.0:0.0	.	808	P52735	VAV2_HUMAN	L	808;798;798	ENSP00000360916:P808L;ENSP00000360917:P798L	ENSP00000317258:P798L	P	-	2	0	VAV2	135624371	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	9.064000	0.93933	1.943000	0.56356	0.313000	0.20887	CCC	-	VAV2	-	superfamily_SH3_domain		0.637	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	0	0		56	56		0.00		G			136634550	-1	32		48		tier1	no_errors	ENST00000371850	ensembl	human	known	74_37	missense	40.00		SNP	1.000	A	32	48
BIRC6	57448	genome.wustl.edu	37	2	32774387	32774387	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:32774387C>T	ENST00000421745.2	+	65	13117	c.12983C>T	c.(12982-12984)gCc>gTc	p.A4328V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4328					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGGTTCTTGCCAGTTACATA	0.363													ENSG00000115760																									Pancreas(94;175 1509 16028 18060 45422)												0													107.0	102.0	103.0					2																	32774387		2203	4300	6503	SO:0001583	missense	0			-	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12983C>T	2.37:g.32774387C>T	ENSP00000393596:p.Ala4328Val		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A4328V	ENST00000421745.2	37	c.12983	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764549	0.89932	.	.	ENSG00000115760	ENST00000421745	T	0.75477	-0.94	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.86920	0.2066	10	0.87932	D	0	.	19.7806	0.96414	0.0:1.0:0.0:0.0	.	4328	Q9NR09	BIRC6_HUMAN	V	4328	ENSP00000393596:A4328V	ENSP00000393596:A4328V	A	+	2	0	BIRC6	32627891	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.757000	0.85209	2.669000	0.90835	0.650000	0.86243	GCC	-	BIRC6	-	NULL		0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	0	0		75	75		0.00		C	NM_016252		32774387	+1	24		58		tier1	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	29.27		SNP	1.000	T	24	58
SNCAIP	9627	genome.wustl.edu	37	5	121786794	121786794	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:121786794C>T	ENST00000261368.8	+	10	2514	c.2252C>T	c.(2251-2253)aCc>aTc	p.T751I	SNCAIP_ENST00000414317.2_Missense_Mutation_p.T353I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.T798I|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.T798I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T691I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.T309I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.T385I	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	751					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCATCTCCCACCTCAGAGAGC	0.562													ENSG00000064692																																					0													81.0	85.0	84.0					5																	121786794		2203	4300	6503	SO:0001583	missense	0			-	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2252C>T	5.37:g.121786794C>T	ENSP00000261368:p.Thr751Ile		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T798I	ENST00000261368.8	37	c.2393	CCDS4131.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.675621|4.675621	0.88445|0.88445	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000447854|ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	.|T;T;T;T;T;T;T;T	.|0.18016	.|4.15;4.67;2.31;2.24;4.66;4.56;2.24;4.36	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.050251	.|0.85682	.|D	.|0.000000	T|T	0.47801|0.47801	0.1465|0.1465	M|M	0.77313|0.77313	2.365|2.365	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.998;0.997;0.987;0.983;0.999;0.989;0.994;0.975	T|T	0.39623|0.39623	-0.9605|-0.9605	6|10	0.87932|0.87932	D|D	0|0	-25.2435|-25.2435	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|691;379;353;691;385;385;798;751	.|D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.|.;.;.;.;.;.;.;SNCAP_HUMAN	S|I	374|309;691;751;798;691;385;798;353	.|ENSP00000441681:T309I;ENSP00000422106:T691I;ENSP00000261368:T751I;ENSP00000368848:T798I;ENSP00000368851:T691I;ENSP00000368854:T385I;ENSP00000261367:T798I;ENSP00000394392:T353I	ENSP00000416985:P374S|ENSP00000261367:T798I	P|T	+|+	1|2	0|0	SNCAIP|SNCAIP	121814693|121814693	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.469000|7.469000	0.80959|0.80959	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CCT|ACC	-	SNCAIP	-	NULL		0.562	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	0	0		40	40		0.00		C			121786794	+1	14		56		tier1	no_errors	ENST00000379533	ensembl	human	known	74_37	missense	19.44		SNP	1.000	T	14	56
COL22A1	169044	genome.wustl.edu	37	8	139601522	139601522	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:139601522G>A	ENST00000303045.6	-	65	5301	c.4855C>T	c.(4855-4857)Cgg>Tgg	p.R1619W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R1599W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1619					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTACCCGGCCGGGCAGCAAGG	0.597										HNSCC(7;0.00092)			ENSG00000169436																																					0													34.0	36.0	35.0					8																	139601522		2203	4300	6503	SO:0001583	missense	0			-	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4855C>T	8.37:g.139601522G>A	ENSP00000303153:p.Arg1619Trp		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.R1619W	ENST00000303045.6	37	c.4855	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400277	0.62177	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.90133	-2.62;-2.53	6.03	6.03	0.97812	.	0.145918	0.30473	N	0.009557	D	0.94496	0.8228	M	0.71581	2.175	0.48830	D	0.999716	D;D	0.89917	1.0;1.0	D;P	0.81914	0.995;0.874	D	0.94339	0.7569	10	0.72032	D	0.01	.	13.8423	0.63446	0.0:0.0:0.7428:0.2572	.	1599;1619	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	1619;1599;1312	ENSP00000303153:R1619W;ENSP00000387655:R1599W	ENSP00000303153:R1619W	R	-	1	2	COL22A1	139670704	0.993000	0.37304	0.993000	0.49108	0.863000	0.49368	1.127000	0.31357	2.861000	0.98227	0.655000	0.94253	CGG	-	COL22A1	-	NULL		0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	0	0		92	92		0.00		G	XM_291257		139601522	-1	47		62		tier1	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	43.12		SNP	1.000	A	47	62
MAPK10	5602	genome.wustl.edu	37	4	87280907	87280907	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:87280907G>A	ENST00000359221.3	-	0	309				MAPK10_ENST00000395169.3_5'UTR|MAPK10_ENST00000395166.1_5'Flank|MAPK10_ENST00000513839.1_Intron|MAPK10_ENST00000361569.2_Intron|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395161.2_5'UTR			P53779	MK10_HUMAN	mitogen-activated protein kinase 10						activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GACTAACATGGAAGAGATTCT	0.423													ENSG00000109339																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.-218C>T	4.37:g.87280907G>A			A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	R	SNP	-	NULL	ENST00000359221.3	37	NULL	CCDS34026.1	4																																																																																			-	MAPK10	-	-		0.423	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2	0	0		50	50		0.00		G			87280907	-1	18		54		tier1	no_errors	ENST00000506385	ensembl	human	known	74_37	rna	24.32		SNP	0.395	A	18	54
CUL3	8452	genome.wustl.edu	37	2	225449666	225449666	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:225449666A>G	ENST00000264414.4	-	1	399	c.61T>C	c.(61-63)Ttt>Ctt	p.F21L	CUL3_ENST00000344951.4_Missense_Mutation_p.F21L	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	21					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTCACCGGAAAGGCCCGGATC	0.726													ENSG00000036257																																					0													32.0	31.0	31.0					2																	225449666		2197	4299	6496	SO:0001583	missense	0			-	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.61T>C	2.37:g.225449666A>G	ENSP00000264414:p.Phe21Leu		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.F21L	ENST00000264414.4	37	c.61	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	A	12.41	1.931053	0.34096	.	.	ENSG00000036257	ENST00000264414;ENST00000344951	T;T	0.67345	-0.26;-0.07	2.95	1.61	0.23674	.	0.071398	0.56097	N	0.000028	T	0.50718	0.1632	N	0.19112	0.55	0.22240	N	0.999267	B;D	0.53745	0.219;0.962	B;P	0.50314	0.294;0.637	T	0.43925	-0.9361	10	0.12430	T	0.62	.	6.7638	0.23556	0.7904:0.0:0.0:0.2096	.	21;21	Q13618-3;Q13618	.;CUL3_HUMAN	L	21	ENSP00000264414:F21L;ENSP00000343601:F21L	ENSP00000264414:F21L	F	-	1	0	CUL3	225157910	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.703000	0.47110	0.965000	0.38133	0.260000	0.18958	TTT	-	CUL3	-	NULL		0.726	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	0	0		10	10		0.00		A			225449666	-1	4		11		tier1	no_errors	ENST00000264414	ensembl	human	known	74_37	missense	26.67		SNP	1.000	G	4	11
CFAP54	144535	genome.wustl.edu	37	12	96941713	96941713	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:96941713C>T	ENST00000524981.4	+	15	2134	c.2111C>T	c.(2110-2112)cCt>cTt	p.P704L	C12orf55_ENST00000298953.3_Missense_Mutation_p.P704L|C12orf55_ENST00000554108.2_3'UTR			Q96N23	CL055_HUMAN		704																	AACAAATTCCCTGGAGCTCCA	0.358													ENSG00000188596																																					0																																										SO:0001583	missense	0			-																												ENST00000524981.4:c.2111C>T	12.37:g.96941713C>T	ENSP00000431759:p.Pro704Leu			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.P704L	ENST00000524981.4	37	c.2111		12	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667755	0.14710	.	.	ENSG00000188596	ENST00000524981;ENST00000298953	T	0.20881	2.04	3.98	-0.668	0.11392	.	.	.	.	.	T	0.07548	0.0190	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39563	-0.9608	6	0.07175	T	0.84	.	7.0886	0.25272	0.0:0.5292:0.0:0.4708	.	.	.	.	L	704	ENSP00000298953:P704L	ENSP00000298953:P704L	P	+	2	0	C12orf63	95465844	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.512000	0.06313	-0.118000	0.11851	0.460000	0.39030	CCT	-	C12orf55	-	NULL		0.358	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	0	0		163	163		0.00		C			96941713	+1	73		112		tier1	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	39.46		SNP	0.000	T	73	112
PCLO	27445	genome.wustl.edu	37	7	82584268	82584268	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82584268C>T	ENST00000333891.9	-	5	6338	c.6001G>A	c.(6001-6003)Gaa>Aaa	p.E2001K	PCLO_ENST00000423517.2_Missense_Mutation_p.E2001K	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						ATAGGATCTTCATAAATCTGT	0.373													ENSG00000186472																																					0													114.0	117.0	117.0					7																	82584268		1837	4078	5915	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.6001G>A	7.37:g.82584268C>T	ENSP00000334319:p.Glu2001Lys			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.E2001K	ENST00000333891.9	37	c.6001	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915499	0.33815	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21543	2.0;2.01	5.77	5.77	0.91146	.	.	.	.	.	T	0.19765	0.0475	L	0.40543	1.245	0.80722	D	1	P;P	0.38504	0.493;0.634	B;B	0.36766	0.232;0.232	T	0.01448	-1.1352	9	0.87932	D	0	.	13.2299	0.59936	0.0:0.9275:0.0:0.0725	.	2001;2001	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1932;2001;2001	ENSP00000334319:E2001K;ENSP00000388393:E2001K	ENSP00000334319:E2001K	E	-	1	0	PCLO	82422204	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.066000	0.71185	2.729000	0.93468	0.655000	0.94253	GAA	-	PCLO	-	NULL		0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		39	39		0.00		C	NM_014510		82584268	-1	18		17		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	51.43		SNP	1.000	T	18	17
NTRK2	4915	genome.wustl.edu	37	9	87342577	87342577	+	Missense_Mutation	SNP	A	A	G	rs140359847		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:87342577A>G	ENST00000323115.4	+	8	1215	c.862A>G	c.(862-864)Act>Gct	p.T288A	NTRK2_ENST00000277120.3_Missense_Mutation_p.T288A|NTRK2_ENST00000359847.3_Missense_Mutation_p.T288A|NTRK2_ENST00000376214.1_Missense_Mutation_p.T288A|NTRK2_ENST00000395866.2_Missense_Mutation_p.T132A|NTRK2_ENST00000304053.6_Missense_Mutation_p.T288A|NTRK2_ENST00000395882.1_Missense_Mutation_p.T288A|NTRK2_ENST00000376213.1_Missense_Mutation_p.T288A|NTRK2_ENST00000376208.1_Missense_Mutation_p.T288A			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	288					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AGTTGCACCAACTATCACATT	0.433										TSP Lung(25;0.17)			ENSG00000148053																																					0								A	ALA/THR,ALA/THR,ALA/THR,ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	63.0	62.0	62.0		862,862,862,862,862	6.0	1.0	9	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	NTRK2	NM_001007097.1,NM_001018064.1,NM_001018065.2,NM_001018066.2,NM_006180.3	58,58,58,58,58	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	288/478,288/823,288/554,288/538,288/839	87342577	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.862A>G	9.37:g.87342577A>G	ENSP00000314586:p.Thr288Ala		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.T288A	ENST00000323115.4	37	c.862	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	A	5.758	0.324282	0.10900	2.27E-4	0.0	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	6.01	6.01	0.97437	.	0.104814	0.64402	D	0.000004	T	0.45875	0.1364	L	0.28400	0.85	0.30986	N	0.721962	B;B;B;B;B;B;B	0.28178	0.002;0.018;0.018;0.001;0.06;0.202;0.007	B;B;B;B;B;B;B	0.38755	0.003;0.035;0.035;0.004;0.094;0.281;0.007	T	0.53165	-0.8477	10	0.30854	T	0.27	.	10.796	0.46461	0.9297:0.0:0.0703:0.0	.	132;288;288;288;288;288;334	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1	.;.;.;.;NTRK2_HUMAN;.;.	A	288;288;288;288;288;288;288;288;132	ENSP00000365387:T288A;ENSP00000365386:T288A;ENSP00000379221:T288A;ENSP00000365381:T288A;ENSP00000306167:T288A;ENSP00000277120:T288A;ENSP00000314586:T288A;ENSP00000352906:T288A;ENSP00000379207:T132A	ENSP00000277120:T288A	T	+	1	0	NTRK2	86532397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.154000	0.58125	2.302000	0.77476	0.477000	0.44152	ACT	rs140359847	NTRK2	-	prints_Tyr_kin_neurotrophic_rcpt_2		0.433	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	0	0		46	46		0.00		A			87342577	+1	25		30		tier1	no_errors	ENST00000277120	ensembl	human	known	74_37	missense	45.45		SNP	1.000	G	25	30
TRIM36	55521	genome.wustl.edu	37	5	114466386	114466386	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:114466386G>A	ENST00000282369.3	-	9	1856	c.1735C>T	c.(1735-1737)Cgt>Tgt	p.R579C	TRIM36_ENST00000514154.1_Missense_Mutation_p.R424C|TRIM36_ENST00000513154.1_Missense_Mutation_p.R567C	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	579	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGTTCCACACGGAAGGCCCAG	0.458													ENSG00000152503																																					0													159.0	153.0	155.0					5																	114466386		2202	4300	6502	SO:0001583	missense	0			-	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1735C>T	5.37:g.114466386G>A	ENSP00000282369:p.Arg579Cys		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R579C	ENST00000282369.3	37	c.1735	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694181	0.68386	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.70282	-0.47;-0.47;-0.47	5.76	5.76	0.90799	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.208186	0.49305	D	0.000157	T	0.76176	0.3951	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.64877	0.825;0.93	T	0.76691	-0.2866	10	0.56958	D	0.05	.	9.6626	0.39965	0.071:0.0:0.7874:0.1416	.	567;579	E9PFI8;Q9NQ86	.;TRI36_HUMAN	C	579;567;424	ENSP00000282369:R579C;ENSP00000423934:R567C;ENSP00000424259:R424C	ENSP00000282369:R579C	R	-	1	0	TRIM36	114494285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.161000	0.58170	2.695000	0.91970	0.563000	0.77884	CGT	-	TRIM36	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin		0.458	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	0	0		67	67		0.00		G	NM_018700		114466386	-1	40		45		tier1	no_errors	ENST00000282369	ensembl	human	known	74_37	missense	46.51		SNP	0.985	A	40	45
PTPRA	5786	genome.wustl.edu	37	20	3017819	3017819	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3017819G>A	ENST00000216877.6	+	22	2591	c.2191G>A	c.(2191-2193)Ggg>Agg	p.G731R	PTPRA_ENST00000399903.2_Missense_Mutation_p.G740R|PTPRA_ENST00000356147.3_Missense_Mutation_p.G731R|PTPRA_ENST00000380393.3_Missense_Mutation_p.G740R|PTPRA_ENST00000425918.2_Missense_Mutation_p.G751R|PTPRA_ENST00000358719.4_Missense_Mutation_p.G596R|PTPRA_ENST00000318266.5_Missense_Mutation_p.G731R	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	740	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGAAGGACGGGGACCTTCTG	0.592													ENSG00000132670																																					0													122.0	95.0	104.0					20																	3017819		2203	4300	6503	SO:0001583	missense	0			-		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2191G>A	20.37:g.3017819G>A	ENSP00000216877:p.Gly731Arg		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G751R	ENST00000216877.6	37	c.2251	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.441270	0.96187	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.91	5.91	0.95273	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	U	0.000000	T	0.73923	0.3649	H	0.99746	4.745	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	0.85919	0.1445	10	0.87932	D	0	.	20.3078	0.98634	0.0:0.0:1.0:0.0	.	751;740;731	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	R	740;731;740;596;350;751;731;731	ENSP00000369756:G740R;ENSP00000216877:G731R;ENSP00000382787:G740R;ENSP00000351559:G596R;ENSP00000393553:G751R;ENSP00000314568:G731R;ENSP00000348468:G731R	ENSP00000216877:G731R	G	+	1	0	PTPRA	2965819	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	9.796000	0.99103	2.794000	0.96219	0.650000	0.86243	GGG	-	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.592	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	0	0		37	37		0.00		G			3017819	+1	16		38		tier1	no_errors	ENST00000425918	ensembl	human	known	74_37	missense	29.63		SNP	1.000	A	16	38
NPAS3	64067	genome.wustl.edu	37	14	33684485	33684485	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:33684485C>T	ENST00000356141.4	+	3	238	c.238C>T	c.(238-240)Ctt>Ttt	p.L80F	NPAS3_ENST00000346562.2_Missense_Mutation_p.L50F|NPAS3_ENST00000548645.1_Missense_Mutation_p.L50F|NPAS3_ENST00000357798.5_Missense_Mutation_p.L50F|NPAS3_ENST00000341321.4_Missense_Mutation_p.L80F|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.L87F			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	80	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.			PLP -> LS (in Ref. 4; CAB45154). {ECO:0000305}.	locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTTGTTGCCTCTTCCTGCAGC	0.488													ENSG00000151322																																					0													105.0	104.0	104.0					14																	33684485		2203	4300	6503	SO:0001583	missense	0			-	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.238C>T	14.37:g.33684485C>T	ENSP00000348460:p.Leu80Phe		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.L80F	ENST00000356141.4	37	c.238	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852265	0.91355	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.97941	3.3;3.18;3.2;-4.62;3.21;3.18;3.05	5.83	5.83	0.93111	Helix-loop-helix DNA-binding (4);	0.000000	0.56097	D	0.000021	D	0.98169	0.9395	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.83275	0.996;0.986;0.994;0.996	D	0.97059	0.9769	10	0.19147	T	0.46	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	50;80;50;50	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	F	57;87;50;80;50;80;50	ENSP00000448373:L57F;ENSP00000450392:L87F;ENSP00000319610:L50F;ENSP00000344158:L80F;ENSP00000448916:L50F;ENSP00000348460:L80F;ENSP00000350446:L50F	ENSP00000344158:L80F	L	+	1	0	NPAS3	32754236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.088000	0.71371	2.757000	0.94681	0.563000	0.77884	CTT	-	NPAS3	-	superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.488	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	0	0		81	81		0.00		C			33684485	+1	38		18		tier1	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	67.86		SNP	1.000	T	38	18
LNPEP	4012	genome.wustl.edu	37	5	96271198	96271198	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:96271198G>A	ENST00000231368.5	+	0	31				CTD-2260A17.2_ENST00000501338.1_5'UTR|LNPEP_ENST00000395784.1_3'UTR	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase						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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GGAAACCAGCGATTCGCGGTT	0.637													ENSG00000247121																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.-662G>A	5.37:g.96271198G>A			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	R	SNP	-	NULL	ENST00000231368.5	37	NULL	CCDS4087.1	5																																																																																			-	CTD-2260A17.2	-	-		0.637	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000247121	Clone_based_vega_gene	protein_coding	OTTHUMT00000250624.1	0	0		12	12		0.00		G	NM_005575		96271198	-1	7		9		tier1	no_errors	ENST00000501338	ensembl	human	known	74_37	rna	43.75		SNP	0.006	A	7	9
BPIFB2	80341	genome.wustl.edu	37	20	31604871	31604871	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31604871G>A	ENST00000170150.3	+	7	735	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	180						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TCTCCAACCTGGTGCAGGGTG	0.627													ENSG00000078898																																					0													112.0	113.0	113.0					20																	31604871		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.540G>A	20.37:g.31604871G>A			Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.L180	ENST00000170150.3	37	c.540	CCDS13210.1	20																																																																																			-	BPIFB2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.627	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	0	0		29	29		0.00		G	NM_025227		31604871	+1	15		34		tier1	no_errors	ENST00000170150	ensembl	human	known	74_37	silent	30.61		SNP	1.000	A	15	34
SPEN	23013	genome.wustl.edu	37	1	16261246	16261246	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16261246C>T	ENST00000375759.3	+	11	8715	c.8511C>T	c.(8509-8511)atC>atT	p.I2837I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2837	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCAGCCAGATCCCCCCGGCCA	0.572													ENSG00000065526																																					0													81.0	74.0	77.0					1																	16261246		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8511C>T	1.37:g.16261246C>T			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.I2837	ENST00000375759.3	37	c.8511	CCDS164.1	1																																																																																			-	SPEN	-	NULL		0.572	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	0	0		17	17		0.00		C	NM_015001		16261246	+1	9		11		tier1	no_errors	ENST00000375759	ensembl	human	known	74_37	silent	42.86		SNP	0.996	T	9	11
TGFBR3	7049	genome.wustl.edu	37	1	92224237	92224237	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:92224237G>A	ENST00000525962.1	-	3	378	c.317C>T	c.(316-318)tCc>tTc	p.S106F	TGFBR3_ENST00000212355.4_Missense_Mutation_p.S106F|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S106F|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	106					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGGGTGTGGGGAGTTGAGCAG	0.512													ENSG00000069702																																					0													152.0	138.0	142.0					1																	92224237		2203	4300	6503	SO:0001583	missense	0			-	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.317C>T	1.37:g.92224237G>A	ENSP00000436127:p.Ser106Phe		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.S106F	ENST00000525962.1	37	c.317	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888966	0.72524	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.5	4.57	0.56435	.	0.052412	0.85682	D	0.000000	T	0.59569	0.2203	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66720	-0.5852	10	0.72032	D	0.01	-17.2147	16.1698	0.81801	0.0:0.1336:0.8664:0.0	.	106;106	Q03167-2;Q03167	.;TGBR3_HUMAN	F	106	ENSP00000212355:S106F;ENSP00000359426:S106F;ENSP00000436127:S106F;ENSP00000432638:S106F	ENSP00000212355:S106F	S	-	2	0	TGFBR3	91996825	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.543000	0.82106	1.290000	0.44636	0.561000	0.74099	TCC	-	TGFBR3	-	NULL		0.512	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	0	0		90	90		0.00		G	NM_003243		92224237	-1	37		78		tier1	no_errors	ENST00000212355	ensembl	human	known	74_37	missense	31.90		SNP	1.000	A	37	78
ZNF836	162962	genome.wustl.edu	37	19	52659026	52659026	+	Missense_Mutation	SNP	G	G	A	rs529168404	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:52659026G>A	ENST00000322146.8	-	5	2431	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.P637L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	637					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(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACATTGAAACGGCTTCTCTCC	0.403													ENSG00000196267																																					0													133.0	144.0	140.0					19																	52659026		2142	4268	6410	SO:0001583	missense	0			-	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1910C>T	19.37:g.52659026G>A	ENSP00000325038:p.Pro637Leu			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.P637L	ENST00000322146.8	37	c.1910	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	g	11.38	1.621492	0.28889	.	.	ENSG00000196267	ENST00000322146	T	0.17054	2.3	2.09	2.09	0.27110	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	L	0.46670	1.46	0.39318	D	0.965198	D	0.89917	1.0	D	0.97110	1.0	T	0.08680	-1.0710	9	0.52906	T	0.07	.	11.1958	0.48711	0.0:0.0:1.0:0.0	.	637	Q6ZNA1	ZN836_HUMAN	L	637	ENSP00000325038:P637L	ENSP00000325038:P637L	P	-	2	0	ZNF836	57350838	0.348000	0.24861	0.226000	0.23910	0.009000	0.06853	0.803000	0.27083	1.152000	0.42452	0.484000	0.47621	CCG	-	ZNF836	-	pfscan_Znf_C2H2		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	0	0		48	48		0.00		G	NM_001102657		52659026	-1	11		48		tier1	no_errors	ENST00000322146	ensembl	human	known	74_37	missense	18.64		SNP	0.983	A	11	48
SLC3A1	6519	genome.wustl.edu	37	2	44513183	44513183	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:44513183G>A	ENST00000260649.6	+	4	854	c.778G>A	c.(778-780)Gga>Aga	p.G260R	SLC3A1_ENST00000409741.1_Missense_Mutation_p.G260R|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G260R|SLC3A1_ENST00000409380.1_5'UTR|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G260R|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G260R	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	260					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AAGTGTGTATGGAAACTCCAG	0.403													ENSG00000138079																																					0													172.0	164.0	167.0					2																	44513183		2203	4300	6503	SO:0001583	missense	0			-		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.778G>A	2.37:g.44513183G>A	ENSP00000260649:p.Gly260Arg		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.G260R	ENST00000260649.6	37	c.778	CCDS1819.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612609	0.87258	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000427285	D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	4.98	4.98	0.66077	Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98686	0.9559	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;0.99;0.965;0.98	D;D;D;D;D	0.74674	0.973;0.984;0.973;0.932;0.909	D	0.99120	1.0849	10	0.38643	T	0.18	-16.9064	18.2507	0.90002	0.0:0.0:1.0:0.0	.	260;260;260;260;260	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	R	260;260;196;260;260;260;260;38	ENSP00000260649:G260R;ENSP00000387308:G260R;ENSP00000387337:G260R;ENSP00000386954:G260R;ENSP00000386620:G260R;ENSP00000391642:G38R	ENSP00000260649:G260R	G	+	1	0	SLC3A1	44366687	1.000000	0.71417	0.991000	0.47740	0.915000	0.54546	9.269000	0.95684	2.301000	0.77427	0.591000	0.81541	GGA	-	SLC3A1	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.403	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC3A1	HGNC	protein_coding	OTTHUMT00000250676.1	0	0		35	35		0.00		G	NM_000341		44513183	+1	15		46		tier1	no_errors	ENST00000260649	ensembl	human	known	74_37	missense	24.59		SNP	1.000	A	15	46
ZNF502	91392	genome.wustl.edu	37	3	44762543	44762543	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:44762543C>T	ENST00000296091.4	+	4	490	c.234C>T	c.(232-234)ttC>ttT	p.F78F	ZNF502_ENST00000436624.2_Silent_p.F78F|ZNF502_ENST00000449836.1_Silent_p.F78F	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CATGCCTTTTCCAGGAAGGAG	0.388													ENSG00000196653																																					0													66.0	67.0	66.0					3																	44762543		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.234C>T	3.37:g.44762543C>T				Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F78	ENST00000296091.4	37	c.234	CCDS2719.1	3																																																																																			-	ZNF502	-	NULL		0.388	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	HGNC	protein_coding	OTTHUMT00000256744.4	0	0		96	96		0.00		C	NM_033210		44762543	+1	50		63		tier1	no_errors	ENST00000296091	ensembl	human	known	74_37	silent	44.25		SNP	0.137	T	50	63
ARNTL2	56938	genome.wustl.edu	37	12	27542927	27542927	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:27542927C>T	ENST00000266503.5	+	9	793				ARNTL2_ENST00000395901.2_Intron|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000546179.1_Intron|ARNTL2_ENST00000544915.1_Intron|ARNTL2_ENST00000261178.5_Intron|ARNTL2_ENST00000311001.5_Intron			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2						circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAACTGTTTCCTTTCTCAATA	0.318													ENSG00000245311																																					0																																										SO:0001627	intron_variant	0			-	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.776-102C>T	12.37:g.27542927C>T			B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	R	SNP	-	NULL	ENST00000266503.5	37	NULL	CCDS8712.1	12																																																																																			-	RP11-165P7.1	-	-		0.318	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC101928646	Clone_based_vega_gene	protein_coding	OTTHUMT00000403162.1	0	0		45	45		0.00		C	NM_020183		27542927	-1	7		40		tier1	no_errors	ENST00000500498	ensembl	human	known	74_37	rna	14.58		SNP	0.006	T	7	40
C2orf44	80304	genome.wustl.edu	37	2	24262260	24262260	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:24262260G>A	ENST00000295148.4	-	2	162	c.105C>T	c.(103-105)gtC>gtT	p.V35V	C2orf44_ENST00000406895.3_Silent_p.V35V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	35									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCAGTTAGGACAACTTGAT	0.512			T	ALK	NSCLC								ENSG00000163026																												Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	0													119.0	105.0	110.0					2																	24262260		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.105C>T	2.37:g.24262260G>A			D6W532|Q8IYK0|Q9HBP5	Silent	SNP	NULL	p.V35	ENST00000295148.4	37	c.105	CCDS1705.1	2																																																																																			-	C2orf44	-	NULL		0.512	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf44	HGNC	protein_coding	OTTHUMT00000246825.1	0	0		34	34		0.00		G	NM_025203		24262260	-1	14		35		tier1	no_errors	ENST00000295148	ensembl	human	known	74_37	silent	28.57		SNP	0.988	A	14	35
COL9A2	1298	genome.wustl.edu	37	1	40767513	40767513	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:40767513G>A	ENST00000372748.3	-	31	1937	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	614	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGGCATCCCGGGGTGCCCCCG	0.537													ENSG00000049089																																					0													44.0	45.0	45.0					1																	40767513		2203	4300	6503	SO:0001583	missense	0			-	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1841C>T	1.37:g.40767513G>A	ENSP00000361834:p.Pro614Leu		B2RMP9	Missense_Mutation	SNP	pfam_Collagen	p.P614L	ENST00000372748.3	37	c.1841	CCDS450.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548617	0.65311	.	.	ENSG00000049089	ENST00000372748	D	0.93953	-3.32	5.35	5.35	0.76521	.	0.174936	0.51477	D	0.000097	D	0.96402	0.8826	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95953	0.8956	10	0.56958	D	0.05	.	11.4766	0.50302	0.0:0.0:0.821:0.179	.	614	Q14055	CO9A2_HUMAN	L	614	ENSP00000361834:P614L	ENSP00000361834:P614L	P	-	2	0	COL9A2	40540100	1.000000	0.71417	0.710000	0.30468	0.971000	0.66376	3.749000	0.55150	2.780000	0.95670	0.655000	0.94253	CCC	-	COL9A2	-	pfam_Collagen		0.537	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	0	0		34	34		0.00		G	NM_001852		40767513	-1	19		30		tier1	no_errors	ENST00000372748	ensembl	human	known	74_37	missense	38.78		SNP	0.963	A	19	30
TUBB8P12	260334	genome.wustl.edu	37	18	50018	50018	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:50018C>T	ENST00000573909.1	-	0	222				RP11-683L23.1_ENST00000594555.1_5'Flank|RP11-683L23.1_ENST00000308911.6_5'Flank																							tatgttaactcaacaggactt	0.408													ENSG00000173213																																					0																																										SO:0001623	5_prime_UTR_variant	0			-																												ENST00000573909.1:c.-311G>A	18.37:g.50018C>T				R	SNP	-	NULL	ENST00000573909.1	37	NULL		18																																																																																			-	RP11-683L23.1	-	-		0.408	RP11-683L23.1-002	PUTATIVE	not_best_in_genome_evidence|basic	protein_coding	ENSG00000173213	Clone_based_vega_gene	protein_coding	OTTHUMT00000439819.1	0	0		10	10		0.00		C			50018	-1	4		7		tier1	no_errors	ENST00000575325	ensembl	human	known	74_37	rna	36.36		SNP	0.034	T	4	7
TRIM49B	283116	genome.wustl.edu	37	11	49059508	49059508	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:49059508C>T	ENST00000332682.7	+	7	1366	c.1338C>T	c.(1336-1338)atC>atT	p.I446I		NM_001206626.1	NP_001193555.1	A6NDI0	TR49B_HUMAN	tripartite motif containing 49B	446	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			lung(8)	8						TCAGGCCTATCTTTTGCTGTA	0.438													ENSG00000182053																																					0																																										SO:0001819	synonymous_variant	0			-		CCDS55762.1	11p11.12	2014-02-17			ENSG00000182053	ENSG00000182053		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	42955	protein-coding gene	gene with protein product							Standard	NM_001206626		Approved		uc021qix.1	A6NDI0		ENST00000332682.7:c.1338C>T	11.37:g.49059508C>T				Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I446	ENST00000332682.7	37	c.1338	CCDS55762.1	11																																																																																			-	TRIM49B	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.438	TRIM49B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49B	HGNC	protein_coding		0	0		96	96		0.00		C			49059508	+1	22		70		tier1	no_errors	ENST00000332682	ensembl	human	known	74_37	silent	23.91		SNP	0.046	T	22	70
BCL2L12	83596	genome.wustl.edu	37	19	50169104	50169104	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50169104C>T	ENST00000246785.3	+	1	282	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_ENST00000597198.1_5'UTR|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.F8F|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.F8F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	8					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542													ENSG00000126453																																					0													45.0	52.0	50.0					19																	50169104		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.24C>T	19.37:g.50169104C>T			Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	NULL	p.F8	ENST00000246785.3	37	c.24	CCDS12776.1	19																																																																																			-	BCL2L12	-	NULL		0.542	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	HGNC	protein_coding	OTTHUMT00000465770.1	0	0		78	78		0.00		C	NM_052842		50169104	+1	23		40		tier1	no_errors	ENST00000246785	ensembl	human	known	74_37	silent	36.51		SNP	0.000	T	23	40
AIM1L	55057	genome.wustl.edu	37	1	26670409	26670409	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:26670409C>T	ENST00000308182.5	-	0	34				AIM1L_ENST00000527815.1_Missense_Mutation_p.V40M			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like								carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCGGTAGGCACCAGACTGCCG	0.647													ENSG00000176092																																					0																																												0			-			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490		1.37:g.26670409C>T			B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.V40M	ENST00000308182.5	37	c.118		1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687274	0.48097	.	.	ENSG00000176092	ENST00000527815	T	0.75589	-0.95	4.91	-0.287	0.12858	.	.	.	.	.	T	0.55955	0.1953	N	0.19112	0.55	0.23776	N	0.996871	.	.	.	.	.	.	T	0.51601	-0.8685	7	0.87932	D	0	.	1.5927	0.02657	0.1465:0.4671:0.1421:0.2444	.	.	.	.	M	40	ENSP00000433931:V40M	ENSP00000363323:V259M	V	-	1	0	AIM1L	26542996	0.000000	0.05858	0.957000	0.39632	0.939000	0.58152	-0.928000	0.03980	-0.202000	0.10268	-0.140000	0.14226	GTG	-	AIM1L	-	NULL		0.647	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		0	0		37	37		0.00		C	NM_001039775.2		26670409	-1	17		41		tier1	no_errors	ENST00000527815	ensembl	human	known	74_37	missense	29.31		SNP	0.176	T	17	41
FAM83F	113828	genome.wustl.edu	37	22	40417551	40417551	+	Missense_Mutation	SNP	G	G	A	rs201378321		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:40417551G>A	ENST00000333407.6	+	4	1131	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	FAM83F_ENST00000473717.1_Missense_Mutation_p.R178Q	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	346										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGGGCTGCCCGGCAACAGCGG	0.672													ENSG00000133477	G|||	1	0.000199681	0.0	0.0014	5008	,	,		13929	0.0		0.0	False		,,,				2504	0.0																0													20.0	22.0	21.0					22																	40417551		2199	4289	6488	SO:0001583	missense	0			GMAF=0.0005		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1037G>A	22.37:g.40417551G>A	ENSP00000330432:p.Arg346Gln		Q96FD6	Missense_Mutation	SNP	pfam_DUF1669	p.R346Q	ENST00000333407.6	37	c.1037	CCDS14000.2	22	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.79	3.699088	0.68501	.	.	ENSG00000133477	ENST00000333407	T	0.10860	2.83	4.79	0.147	0.14838	.	0.254805	0.32687	N	0.005774	T	0.06142	0.0159	L	0.36672	1.1	0.22389	N	0.999142	B	0.33841	0.428	B	0.21917	0.037	T	0.29579	-1.0007	10	0.46703	T	0.11	-9.7045	5.7291	0.18030	0.2217:0.2579:0.5205:0.0	.	346	Q8NEG4	FA83F_HUMAN	Q	346	ENSP00000330432:R346Q	ENSP00000330432:R346Q	R	+	2	0	FAM83F	38747497	0.609000	0.26975	0.806000	0.32338	0.634000	0.38068	1.238000	0.32707	0.222000	0.20900	0.561000	0.74099	CGG	rs201378321	FAM83F	-	NULL		0.672	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83F	HGNC	protein_coding	OTTHUMT00000319624.3	0	0		21	21		0.00		G	NM_138435		40417551	+1	14		30		tier1	no_errors	ENST00000333407	ensembl	human	known	74_37	missense	31.82		SNP	0.469	A	14	30
STAT2	6773	genome.wustl.edu	37	12	56740715	56740715	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56740715C>T	ENST00000314128.4	-	20	1772	c.1749G>A	c.(1747-1749)cgG>cgA	p.R583R	STAT2_ENST00000557235.1_Silent_p.R579R|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	583	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCTCCTGGCTCCGACTCACAA	0.622													ENSG00000170581																																					0													74.0	64.0	67.0					12																	56740715		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1749G>A	12.37:g.56740715C>T			B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.R583	ENST00000314128.4	37	c.1749	CCDS8917.1	12																																																																																			-	STAT2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.622	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	0	0		42	42		0.00		C	NM_005419		56740715	-1	15		39		tier1	no_errors	ENST00000314128	ensembl	human	known	74_37	silent	27.78		SNP	0.735	T	15	39
DCHS2	54798	genome.wustl.edu	37	4	155411865	155411865	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:155411865C>T	ENST00000339452.1	-	1	1003	c.643G>A	c.(643-645)Gac>Aac	p.D215N	DCHS2_ENST00000443500.1_Missense_Mutation_p.D215N|DCHS2_ENST00000456341.2_Missense_Mutation_p.D208N	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1418	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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTGCGGGGTCCTTGGGCAGG	0.667													ENSG00000197410																																					0													43.0	52.0	50.0					4																	155411865		692	1591	2283	SO:0001583	missense	0			-	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.643G>A	4.37:g.155411865C>T	ENSP00000345062:p.Asp215Asn		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D215N	ENST00000339452.1	37	c.643	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	C	5.600	0.295391	0.10622	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.59638	0.35;0.25;0.27	3.95	2.2	0.27929	.	.	.	.	.	T	0.37156	0.0993	N	0.12746	0.255	0.09310	N	0.999998	B;B	0.14438	0.01;0.007	B;B	0.12837	0.008;0.006	T	0.25779	-1.0122	9	0.44086	T	0.13	.	8.6164	0.33833	0.0:0.8031:0.0:0.1969	.	215;215	E9PG03;E9PC11	.;.	N	215;215;208;215	ENSP00000345062:D215N;ENSP00000408543:D208N;ENSP00000395539:D215N	ENSP00000345062:D215N	D	-	1	0	DCHS2	155631315	0.950000	0.32346	0.563000	0.28383	0.010000	0.07245	1.631000	0.37092	1.010000	0.39314	0.462000	0.41574	GAC	-	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.667	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	0	0		75	75		0.00		C	NM_001142552		155411865	-1	38		90		tier1	no_errors	ENST00000339452	ensembl	human	known	74_37	missense	29.69		SNP	0.837	T	38	90
PTPRA	5786	genome.wustl.edu	37	20	3017818	3017818	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3017818G>A	ENST00000216877.6	+	22	2590	c.2190G>A	c.(2188-2190)acG>acA	p.T730T	PTPRA_ENST00000399903.2_Silent_p.T739T|PTPRA_ENST00000356147.3_Silent_p.T730T|PTPRA_ENST00000380393.3_Silent_p.T739T|PTPRA_ENST00000425918.2_Silent_p.T750T|PTPRA_ENST00000358719.4_Silent_p.T595T|PTPRA_ENST00000318266.5_Silent_p.T730T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	739	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGAAGGACGGGGACCTTCT	0.592													ENSG00000132670																																					0													121.0	94.0	103.0					20																	3017818		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2190G>A	20.37:g.3017818G>A			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T750	ENST00000216877.6	37	c.2250	CCDS13039.1	20																																																																																			-	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt		0.592	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	0	0		37	37		0.00		G			3017818	+1	16		37		tier1	no_errors	ENST00000425918	ensembl	human	known	74_37	silent	30.19		SNP	0.003	A	16	37
KIAA1614	57710	genome.wustl.edu	37	1	180905671	180905671	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:180905671C>T	ENST00000367588.4	+	5	2681	c.2626C>T	c.(2626-2628)Ctg>Ttg	p.L876L	KIAA1614_ENST00000367587.1_Silent_p.L497L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	876										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACTGCTGGCCCTGTCCACCAA	0.687													ENSG00000135835																																					0													32.0	39.0	36.0					1																	180905671		2025	4167	6192	SO:0001819	synonymous_variant	0			-	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2626C>T	1.37:g.180905671C>T			Q5VZ45|Q9HCF8	Silent	SNP	NULL	p.L876	ENST00000367588.4	37	c.2626	CCDS41442.1	1																																																																																			-	KIAA1614	-	NULL		0.687	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	0	0		46	46		0.00		C	XM_046531		180905671	+1	10		52		tier1	no_errors	ENST00000367588	ensembl	human	known	74_37	silent	16.13		SNP	0.268	T	10	52
ZNF100	163227	genome.wustl.edu	37	19	21933954	21933954	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:21933954G>A	ENST00000358296.6	-	3	295				RP11-420K14.6_ENST00000596710.1_RNA|AC092364.2_ENST00000579465.1_RNA|ZNF100_ENST00000305570.6_5'Flank|ZNF100_ENST00000596452.1_5'Flank	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GAGACAAGAGGAAGAGCAACC	0.443													ENSG00000269845																																					0																																										SO:0001627	intron_variant	0			-	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.97-6085C>T	19.37:g.21933954G>A			Q7M4M0	R	SNP	-	NULL	ENST00000358296.6	37	NULL	CCDS42538.1	19																																																																																			-	RP11-420K14.6	-	-		0.443	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC641367	Clone_based_vega_gene	protein_coding	OTTHUMT00000464087.1	0	0		12	12		0.00		G	NM_173531		21933954	+1	12		11		tier1	no_errors	ENST00000596710	ensembl	human	known	74_37	rna	52.17		SNP	1.000	A	12	11
KMT2B	9757	genome.wustl.edu	37	19	36228051	36228051	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:36228051C>T	ENST00000222270.7	+	33	7437	c.7437C>T	c.(7435-7437)ctC>ctT	p.L2479L	KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000420124.1_Silent_p.L2479L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2479	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCGAGCAGCTCCCCGGAGCCC	0.627													ENSG00000272333																																					0													25.0	28.0	27.0					19																	36228051		2129	4240	6369	SO:0001819	synonymous_variant	0			-	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7437C>T	19.37:g.36228051C>T			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L2479	ENST00000222270.7	37	c.7437	CCDS46055.1	19																																																																																			-	KMT2B	-	pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C		0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		0	0		40	40		0.00		C	NM_014727		36228051	+1	8		52		tier1	no_errors	ENST00000222270	ensembl	human	known	74_37	silent	13.33		SNP	0.011	T	8	52
TPRN	286262	genome.wustl.edu	37	9	140093979	140093979	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:140093979C>T	ENST00000409012.4	-	1	1271	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.E334E	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	395					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						AGGCCCCCTCCTCGACTGCCC	0.716													ENSG00000176058																																					0													7.0	8.0	8.0					9																	140093979		2151	4255	6406	SO:0001819	synonymous_variant	0			-	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1185G>A	9.37:g.140093979C>T			B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Silent	SNP	NULL	p.E395	ENST00000409012.4	37	c.1185	CCDS56594.1	9																																																																																			-	TPRN	-	NULL		0.716	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3	0	0		16	16		0.00		C	NM_173691		140093979	-1	8		13		tier1	no_errors	ENST00000409012	ensembl	human	known	74_37	silent	38.10		SNP	0.096	T	8	13
ZNF44	51710	genome.wustl.edu	37	19	12359283	12359283	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12359283C>T	ENST00000426973.1	-	4	431	c.432G>A	c.(430-432)caG>caA	p.Q144Q				P15621	ZNF44_HUMAN	zinc finger protein 44	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CTCCATATTCCTGACACTTAT	0.388													ENSG00000197857																																					0																																										SO:0001819	synonymous_variant	0			-	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000426973.1:c.432G>A	19.37:g.12359283C>T			B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	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.Q144	ENST00000426973.1	37	c.432		19																																																																																			-	ZNF44	-	NULL		0.388	ZNF44-201	KNOWN	basic	protein_coding	ZNF44	HGNC	protein_coding		0	0		52	52		0.00		C	NM_016264		12359283	-1	6		51		tier1	no_errors	ENST00000426973	ensembl	human	known	74_37	silent	10.53		SNP	0.042	T	6	51
UNKL	64718	genome.wustl.edu	37	16	1419971	1419971	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1419971G>A	ENST00000389221.4	-	12	1576				UNKL_ENST00000402641.2_Intron|UNKL_ENST00000508903.2_Intron|UNKL_ENST00000397464.1_Intron|UNKL_ENST00000391893.2_Missense_Mutation_p.P13S|UNKL_ENST00000403703.1_Intron|UNKL_ENST00000248104.7_Missense_Mutation_p.P13S	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				gcgagactcggtctGCGGCGT	0.617													ENSG00000059145																																					0													81.0	99.0	94.0					16																	1419971		692	1591	2283	SO:0001627	intron_variant	0			-	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1576+159C>T	16.37:g.1419971G>A			B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfscan_Znf_RING	p.P13S	ENST00000389221.4	37	c.37	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	g	6.712	0.500052	0.12762	.	.	ENSG00000059145	ENST00000248104;ENST00000391893	.	.	.	.	.	.	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	5	0.72032	D	0.01	.	.	.	.	.	13	Q9H9P5-3	.	S	13	.	ENSP00000248104:P13S	P	-	1	0	UNKL	1359972	0.003000	0.15002	0.012000	0.15200	0.012000	0.07955	0.214000	0.17541	0.162000	0.19483	0.165000	0.16767	CCG	-	UNKL	-	NULL		0.617	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		0	0		39	39		0.00		G	NM_001037125		1419971	-1	13		37		tier1	no_errors	ENST00000248104	ensembl	human	known	74_37	missense	26.00		SNP	0.013	A	13	37
CASC4	113201	genome.wustl.edu	37	15	44581550	44581550	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:44581550A>T	ENST00000345795.2	+	1	593	c.323A>T	c.(322-324)gAc>gTc	p.D108V	CASC4_ENST00000360824.3_Missense_Mutation_p.D108V|CASC4_ENST00000299957.6_Missense_Mutation_p.D108V|CASC4_ENST00000429162.2_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	108						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGCGAGGATGACAAGGTAAGG	0.577													ENSG00000166734																																					0													10.0	12.0	11.0					15																	44581550		2158	4270	6428	SO:0001583	missense	0			-	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.323A>T	15.37:g.44581550A>T	ENSP00000335063:p.Asp108Val		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	NULL	p.D108V	ENST00000345795.2	37	c.323	CCDS10109.1	15	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131851	0.56828	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	D;D	0.84223	-1.82;-1.82	5.57	5.57	0.84162	.	0.150621	0.64402	D	0.000011	D	0.87977	0.6314	M	0.61703	1.905	0.80722	D	1	D;D;D	0.63880	0.958;0.993;0.987	P;P;P	0.59889	0.587;0.865;0.854	D	0.86952	0.2086	10	0.39692	T	0.17	.	8.3726	0.32423	0.8822:0.0:0.1178:0.0	.	108;108;108	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	V	108;108;108;108;87	ENSP00000299957:D108V;ENSP00000335063:D108V	ENSP00000299957:D108V	D	+	2	0	CASC4	42368842	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.213000	0.77950	2.112000	0.64535	0.402000	0.26972	GAC	-	CASC4	-	NULL		0.577	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC4	HGNC	protein_coding	OTTHUMT00000253816.1	0	0		40	40		0.00		A	NM_138423		44581550	+1	21		12		tier1	no_errors	ENST00000299957	ensembl	human	known	74_37	missense	63.64		SNP	1.000	T	21	12
PRKCZ	5590	genome.wustl.edu	37	1	2113692	2113692	+	Intron	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:2113692G>C	ENST00000400921.2	+	14	1709				RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000536678.1_RNA|PRKCZ_ENST00000400920.1_Intron|RP11-181G12.2_ENST00000444529.1_RNA|PRKCZ_ENST00000479263.1_Intron	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta						actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	AGTGGAGTGGGGGGCTGCACC	0.592													ENSG00000182873																																					0																																										SO:0001627	intron_variant	0			-	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1027-2330G>C	1.37:g.2113692G>C			A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	R	SNP	-	NULL	ENST00000400921.2	37	NULL	CCDS41229.1	1																																																																																			-	RP11-181G12.2	-	-		0.592	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	ENSG00000182873	Clone_based_vega_gene	protein_coding	OTTHUMT00000098533.3	0	0		43	43		0.00		G	NM_002744		2113692	-1	12		52		tier1	no_errors	ENST00000333854	ensembl	human	known	74_37	rna	18.75		SNP	0.005	C	12	52
TMLHE	55217	genome.wustl.edu	37	X	154721289	154721289	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:154721289C>T	ENST00000334398.3	-	8	1318	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE-AS1_ENST00000433624.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	391					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)	TGAAGCATTCCCTGCCATGTA	0.438													ENSG00000185973																																					0													5.0	4.0	5.0					X																	154721289		1771	3294	5065	SO:0001819	synonymous_variant	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.1173G>A	X.37:g.154721289C>T			A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Silent	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.R391	ENST00000334398.3	37	c.1173	CCDS14768.1	X																																																																																			-	TMLHE	-	pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase		0.438	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	HGNC	protein_coding	OTTHUMT00000058817.1	0	0		21	21		0.00		C	NM_018196		154721289	-1	9		19		tier1	no_errors	ENST00000334398	ensembl	human	known	74_37	silent	32.14		SNP	1.000	T	9	19
CEACAM16	388551	genome.wustl.edu	37	19	45211202	45211202	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45211202C>T	ENST00000405314.2	+	5	1107	c.1010C>T	c.(1009-1011)aCc>aTc	p.T337I	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.T337I			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	337					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GTAACACTGACCGTGCAGGGC	0.672													ENSG00000213892																																					0													16.0	18.0	17.0					19																	45211202		2154	4239	6393	SO:0001583	missense	0			-		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1010C>T	19.37:g.45211202C>T	ENSP00000385576:p.Thr337Ile		A7LI12	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T337I	ENST00000405314.2	37	c.1010	CCDS54278.1	19	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940532	0.73557	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.67171	-0.25	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64238	0.2580	L	0.27053	0.805	0.34263	D	0.68008	D	0.53312	0.959	P	0.50049	0.629	T	0.73754	-0.3883	9	0.56958	D	0.05	-32.9158	15.7789	0.78243	0.0:1.0:0.0:0.0	.	396	Q2WEN9	CEA16_HUMAN	I	402;337	ENSP00000385576:T337I	ENSP00000379974:T402I	T	+	2	0	CEACAM16	49903042	0.991000	0.36638	0.955000	0.39395	0.704000	0.40688	3.998000	0.57024	2.788000	0.95919	0.650000	0.86243	ACC	-	CEACAM16	-	pfam_Ig_V-set,smart_Ig_sub		0.672	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CEACAM16	HGNC	protein_coding		0	0		43	43		0.00		C	XM_371177		45211202	+1	17		24		tier1	no_errors	ENST00000405314	ensembl	human	known	74_37	missense	41.46		SNP	0.991	T	17	24
CFAP57	149465	genome.wustl.edu	37	1	43638153	43638153	+	Intron	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:43638153A>C	ENST00000372492.4	+	1	305				EBNA1BP2_ENST00000236051.2_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank|WDR65_ENST00000528956.1_Intron|EBNA1BP2_ENST00000431635.2_5'UTR	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGTCGCCAGAAGGAGCTGGT	0.627													ENSG00000117395																																					0																																										SO:0001627	intron_variant	0			-																												ENST00000372492.4:c.-20+29A>C	1.37:g.43638153A>C			A6NKQ3|Q17RI9|Q5TAI0	R	SNP	-	NULL	ENST00000372492.4	37	NULL		1																																																																																			-	EB1BP2	-	-		0.627	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	EB1BP2	HGNC	protein_coding	OTTHUMT00000384325.1	0	0		18	18		0.00		A			43638153	-1	8		6		tier1	no_errors	ENST00000491223	ensembl	human	known	74_37	rna	57.14		SNP	0.000	C	8	6
KIAA1683	80726	genome.wustl.edu	37	19	18376638	18376638	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18376638G>A	ENST00000600328.3	-	3	1905	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	KIAA1683_ENST00000600359.3_Missense_Mutation_p.S525F|KIAA1683_ENST00000392413.4_Missense_Mutation_p.S571F			Q9H0B3	K1683_HUMAN	KIAA1683	571						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATAGGAGGGGGATGAGGCTTT	0.602													ENSG00000130518																																					0													66.0	53.0	57.0					19																	18376638		2203	4299	6502	SO:0001583	missense	0			-	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1712C>T	19.37:g.18376638G>A	ENSP00000470780:p.Ser571Phe		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.S571F	ENST00000600328.3	37	c.1712	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369360	0.24771	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.07021	3.26;3.23;3.38	4.36	4.36	0.52297	.	0.195828	0.25610	N	0.029485	T	0.20007	0.0481	L	0.58101	1.795	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65987	0.94;0.94	T	0.08911	-1.0699	10	0.18276	T	0.48	-8.1495	12.7742	0.57437	0.0:0.0:1.0:0.0	.	571;571	E9PDE0;Q9H0B3	.;K1683_HUMAN	F	571;571;525	ENSP00000376213:S571F;ENSP00000352774:S571F;ENSP00000404501:S525F	ENSP00000352774:S571F	S	-	2	0	KIAA1683	18237638	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.689000	0.25437	2.144000	0.66660	0.563000	0.77884	TCC	-	KIAA1683	-	NULL		0.602	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	0	0		40	40		0.00		G			18376638	-1	20		24		tier1	no_errors	ENST00000392413	ensembl	human	known	74_37	missense	45.45		SNP	0.007	A	20	24
TRIM77	390231	genome.wustl.edu	37	11	89450848	89450848	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:89450848C>T	ENST00000398290.3	+	6	1161	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F		NM_001146162.1	NP_001139634.1	I1YAP6	TRI77_HUMAN	tripartite motif containing 77	387	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										ATGACCATTTCAGTCTCTTCT	0.473													ENSG00000214414																																					0													181.0	143.0	155.0					11																	89450848		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS60929.1	11q14.3	2014-02-17	2013-01-14	2013-01-14	ENSG00000214414	ENSG00000214414		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	34228	protein-coding gene	gene with protein product			"""tripartite motif-containing 77"", ""tripartite motif containing 77, pseudogene"""	TRIM77P			Standard	NM_001146162		Approved		uc010rtw.2	I1YAP6	OTTHUMG00000167624	ENST00000398290.3:c.1161C>T	11.37:g.89450848C>T				Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F387	ENST00000398290.3	37	c.1161		11																																																																																			-	TRIM77	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.473	TRIM77-201	KNOWN	basic|appris_principal	protein_coding	TRIM77	HGNC	protein_coding		0	0		83	83		0.00		C	NM_001146162		89450848	+1	24		104		tier1	no_errors	ENST00000398290	ensembl	human	known	74_37	silent	18.75		SNP	0.000	T	24	104
RP11-423O2.5	0	genome.wustl.edu	37	1	142803900	142803900	+	lincRNA	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:142803900T>G	ENST00000423385.1	-	0	1065																											TAGGTCTGAATCAGATCAATC	0.353													ENSG00000234978																																					0																																												0			-																													1.37:g.142803900T>G				R	SNP	-	NULL	ENST00000423385.1	37	NULL		1																																																																																			-	RP11-423O2.5	-	-		0.353	RP11-423O2.5-001	KNOWN	basic	lincRNA	ENSG00000234978	Clone_based_vega_gene	lincRNA	OTTHUMT00000193203.1	0	0		58	58		0.00		T			142803900	-1	7		31		tier1	no_errors	ENST00000423385	ensembl	human	known	74_37	rna	18.42		SNP	0.001	G	7	31
PGBD2	267002	genome.wustl.edu	37	1	249210871	249210871	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:249210871A>T	ENST00000329291.5	+	3	235	c.88A>T	c.(88-90)Atg>Ttg	p.M30L	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.M27L	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	30										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGAATGCTATGGAGGAGGA	0.478													ENSG00000185220																																					0													81.0	79.0	79.0					1																	249210871		2203	4300	6503	SO:0001583	missense	0			-	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.88A>T	1.37:g.249210871A>T	ENSP00000331643:p.Met30Leu		B3KVR8|Q6MZF8	Missense_Mutation	SNP	NULL	p.M30L	ENST00000329291.5	37	c.88	CCDS31128.1	1	.	.	.	.	.	.	.	.	.	.	A	1.087	-0.665277	0.03428	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.09255	3.03;3.0	4.08	-1.25	0.09405	.	0.347566	0.16230	N	0.223646	T	0.01523	0.0049	N	0.00268	-1.735	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40496	-0.9560	10	0.02654	T	1	-3.4063	3.5257	0.07759	0.1846:0.3968:0.0:0.4186	.	27;30	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	L	30;27	ENSP00000331643:M30L;ENSP00000439950:M27L	ENSP00000331643:M30L	M	+	1	0	PGBD2	247177494	0.210000	0.23517	0.133000	0.22050	0.911000	0.54048	-0.194000	0.09559	-0.363000	0.08101	-0.213000	0.12676	ATG	-	PGBD2	-	NULL		0.478	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	HGNC	protein_coding	OTTHUMT00000097318.1	0	0		34	34		0.00		A			249210871	+1	12		62		tier1	no_errors	ENST00000329291	ensembl	human	known	74_37	missense	16.22		SNP	0.379	T	12	62
LRP1B	53353	genome.wustl.edu	37	2	141214171	141214171	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:141214171G>A	ENST00000389484.3	-	62	10787	c.9816C>T	c.(9814-9816)gtC>gtT	p.V3272V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3272					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)		GATGTTTGGAGACTAAAGATA	0.363										TSP Lung(27;0.18)			ENSG00000168702																									Colon(99;50 2074 2507 20106)												0													76.0	75.0	75.0					2																	141214171		2203	4300	6503	SO:0001630	splice_region_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.9815-1C>T	2.37:g.141214171G>A			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.V3272	ENST00000389484.3	37	c.9816	CCDS2182.1	2																																																																																			-	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	0	0		47	47		0.00		G	NM_018557	Silent	141214171	-1	19		50		tier1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	27.54		SNP	0.980	A	19	50
APC	324	genome.wustl.edu	37	5	112178969	112178969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:112178969C>T	ENST00000457016.1	+	16	8058	c.7678C>T	c.(7678-7680)Cga>Tga	p.R2560*	APC_ENST00000257430.4_Nonsense_Mutation_p.R2560*|APC_ENST00000508376.2_Nonsense_Mutation_p.R2560*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2560	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.?(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)		ATCCCTTCCTCGAGTAAGCAC	0.408		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)			ENSG00000134982																									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"""	1	Unknown(1)	skin(1)											84.0	84.0	84.0					5																	112178969		2202	4300	6502	SO:0001587	stop_gained	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.7678C>T	5.37:g.112178969C>T	ENSP00000413133:p.Arg2560*		D3DT03|Q15162|Q15163|Q93042	Nonsense_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.R2560*	ENST00000457016.1	37	c.7678	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	49	15.807066	0.99845	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.07	5.18	0.71444	.	0.053706	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.902	16.5302	0.84355	0.1317:0.8683:0.0:0.0	.	.	.	.	X	2560	.	.	R	+	1	2	APC	112206868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.352000	0.52239	1.512000	0.48834	0.655000	0.94253	CGA	-	APC	-	pfam_APC_basic_dom		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	0	0		52	52		0.00		C	NM_000038		112178969	+1	15		40		tier1	no_errors	ENST00000257430	ensembl	human	known	74_37	nonsense	26.79		SNP	1.000	T	15	40
LILRB5	10990	genome.wustl.edu	37	19	54760617	54760617	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:54760617G>A	ENST00000316219.5	-	3	197	c.90C>T	c.(88-90)acC>acT	p.T30T	LILRB5_ENST00000450632.1_Silent_p.T30T|LILRB5_ENST00000345866.6_Silent_p.T30T|LILRB5_ENST00000449561.2_Silent_p.T30T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	30	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCCAGAGGGTGGGTTTGG	0.617													ENSG00000105609																																					0													43.0	50.0	47.0					19																	54760617		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.90C>T	19.37:g.54760617G>A			Q8N760	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T30	ENST00000316219.5	37	c.90	CCDS12885.1	19																																																																																			-	LILRB5	-	pfscan_Ig-like_dom		0.617	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	0	0		37	37		0.00		G			54760617	-1	13		46		tier1	no_errors	ENST00000450632	ensembl	human	known	74_37	silent	22.03		SNP	0.820	A	13	46
PAPPA2	60676	genome.wustl.edu	37	1	176769237	176769237	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:176769237C>T	ENST00000367662.3	+	21	6335	c.5171C>T	c.(5170-5172)cCc>cTc	p.P1724L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1724	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCAGACCCCGTCTTAGTC	0.468													ENSG00000116183																																					0													130.0	126.0	128.0					1																	176769237		1921	4134	6055	SO:0001583	missense	0			-	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5171C>T	1.37:g.176769237C>T	ENSP00000356634:p.Pro1724Leu		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.P1724L	ENST00000367662.3	37	c.5171	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898594	0.72639	.	.	ENSG00000116183	ENST00000367662	T	0.01804	4.63	6.02	6.02	0.97574	Notch domain (1);	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	D	0.66497	0.944	T	0.00318	-1.1821	10	0.87932	D	0	-19.2839	17.4575	0.87611	0.0:1.0:0.0:0.0	.	1724	Q9BXP8	PAPP2_HUMAN	L	1724	ENSP00000356634:P1724L	ENSP00000356634:P1724L	P	+	2	0	PAPPA2	175035860	0.995000	0.38212	0.975000	0.42487	0.488000	0.33401	4.604000	0.61112	2.865000	0.98341	0.655000	0.94253	CCC	-	PAPPA2	-	smart_Notch_dom		0.468	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	0	0		48	48		0.00		C			176769237	+1	29		46		tier1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	38.67		SNP	0.994	T	29	46
MAGEB18	286514	genome.wustl.edu	37	X	26157983	26157983	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:26157983C>T	ENST00000325250.1	+	2	1068	c.881C>T	c.(880-882)aCc>aTc	p.T294I		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	294	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATACATGATACCGTCCCTAGT	0.517													ENSG00000176774																																					0													83.0	54.0	64.0					X																	26157983		2202	4300	6502	SO:0001583	missense	0			-	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.881C>T	X.37:g.26157983C>T	ENSP00000314543:p.Thr294Ile			Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.T294I	ENST00000325250.1	37	c.881	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804760	0.16467	.	.	ENSG00000176774	ENST00000325250	T	0.02158	4.42	4.56	4.56	0.56223	.	0.291140	0.32608	N	0.005873	T	0.05090	0.0136	M	0.85462	2.755	0.09310	N	1	P	0.42649	0.786	B	0.37943	0.261	T	0.23940	-1.0174	10	0.56958	D	0.05	.	11.6598	0.51339	0.0:1.0:0.0:0.0	.	294	Q96M61	MAGBI_HUMAN	I	294	ENSP00000314543:T294I	ENSP00000314543:T294I	T	+	2	0	MAGEB18	26067904	0.024000	0.19004	0.020000	0.16555	0.014000	0.08584	1.448000	0.35112	2.527000	0.85204	0.600000	0.82982	ACC	-	MAGEB18	-	pfscan_MAGE		0.517	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	HGNC	protein_coding	OTTHUMT00000056120.1	0	0		37	37		0.00		C	NM_173699		26157983	+1	28		13		tier1	no_errors	ENST00000325250	ensembl	human	known	74_37	missense	68.29		SNP	0.019	T	28	13
PYGM	5837	genome.wustl.edu	37	11	64518769	64518769	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64518769C>T	ENST00000164139.3	-	16	2368				PYGM_ENST00000377432.3_Intron|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCAGAGCCTCCCTAGGGTCC	0.537													ENSG00000068976																																					0													59.0	56.0	57.0					11																	64518769		2200	4297	6497	SO:0001627	intron_variant	0			-		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1969+27G>A	11.37:g.64518769C>T			A0AVK1|A6NDY6	R	SNP	-	NULL	ENST00000164139.3	37	NULL	CCDS8079.1	11																																																																																			-	PYGM	-	-		0.537	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	0	0		38	38		0.00		C	NM_005609		64518769	-1	16		34		tier1	no_errors	ENST00000462303	ensembl	human	putative	74_37	rna	32.00		SNP	0.012	T	16	34
LUC7L	55692	genome.wustl.edu	37	16	240099	240099	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:240099C>T	ENST00000293872.8	-	9	952	c.842G>A	c.(841-843)aGa>aAa	p.R281K	LUC7L_ENST00000337351.4_Missense_Mutation_p.R281K|LUC7L_ENST00000397780.1_Missense_Mutation_p.R228K|LUC7L_ENST00000397783.1_Missense_Mutation_p.R281K	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	281	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GGAGGTAGATCTTGACCGCCT	0.637													ENSG00000007392																																					0													224.0	217.0	219.0					16																	240099		2203	4300	6503	SO:0001583	missense	0			-	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.842G>A	16.37:g.240099C>T	ENSP00000293872:p.Arg281Lys		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	pfam_Luc7-rel	p.R281K	ENST00000293872.8	37	c.842	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065932	0.55539	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780	T;T;T;T	0.56776	1.02;1.02;0.44;3.4	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.80616	2.505	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.72434	-0.4295	10	0.44086	T	0.13	.	17.6237	0.88089	0.0:1.0:0.0:0.0	.	281	Q9NQ29	LUC7L_HUMAN	K	281;281;281;80;228	ENSP00000337507:R281K;ENSP00000380885:R281K;ENSP00000413033:R80K;ENSP00000380882:R228K	ENSP00000293872:R281K	R	-	2	0	LUC7L	180100	0.998000	0.40836	0.975000	0.42487	0.943000	0.58893	6.712000	0.74681	2.404000	0.81709	0.655000	0.94253	AGA	-	LUC7L	-	NULL		0.637	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	HGNC	protein_coding	OTTHUMT00000134239.1	0	0		85	85		0.00		C			240099	-1	32		68		tier1	no_errors	ENST00000293872	ensembl	human	known	74_37	missense	32.00		SNP	0.992	T	32	68
RSAD1	55316	genome.wustl.edu	37	17	48562159	48562159	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48562159C>T	ENST00000258955.2	+	9	1351	c.1266C>T	c.(1264-1266)acC>acT	p.T422T		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	422					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCTTGCTGACCCTCCTGCCTC	0.557													ENSG00000136444																																					0													73.0	68.0	70.0					17																	48562159		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1266C>T	17.37:g.48562159C>T			B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Silent	SNP	pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.T422	ENST00000258955.2	37	c.1266	CCDS11569.1	17																																																																																			-	RSAD1	-	NULL		0.557	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	HGNC	protein_coding	OTTHUMT00000367413.1	0	0		70	70		0.00		C	NM_018346		48562159	+1	30		61		tier1	no_errors	ENST00000258955	ensembl	human	known	74_37	silent	32.97		SNP	0.951	T	30	61
NBPF1	55672	genome.wustl.edu	37	1	16918514	16918514	+	Start_Codon_SNP	SNP	C	C	T	rs374735184		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16918514C>T	ENST00000430580.2	-	7	890	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGATACCACCATGCTGACGT	0.483													ENSG00000219481																																					0								C	ILE/MET	0,4394		0,0,2197	259.0	261.0	260.0		3	0.6	0.0	1		260	1,8597		0,1,4298	no	missense	NBPF1	NM_017940.3	10	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	1/1123	16918514	1,12991	2197	4299	6496	SO:0001582	initiator_codon_variant	0			-	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3G>A	1.37:g.16918514C>T	ENSP00000474456:p.Met1Ile		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	NULL	p.M1I	ENST00000430580.2	37	c.3		1																																																																																			-	NBPF1	-	NULL		0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	0	0		474	474		0.00		C	NM_017940	Missense_Mutation	16918514	-1	55		536		tier1	no_errors	ENST00000392963	ensembl	human	known	74_37	missense	9.31		SNP	0.041	T	55	536
SLC24A5	283652	genome.wustl.edu	37	15	48427157	48427157	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:48427157T>C	ENST00000341459.3	+	5	639	c.566T>C	c.(565-567)aTa>aCa	p.I189T	SLC24A5_ENST00000449382.2_Missense_Mutation_p.I129T	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	189					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GTTCTTGGTATAATATATGAC	0.323													ENSG00000188467																																					0													79.0	76.0	77.0					15																	48427157		2198	4295	6493	SO:0001583	missense	0			-	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.566T>C	15.37:g.48427157T>C	ENSP00000341550:p.Ile189Thr		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.I189T	ENST00000341459.3	37	c.566	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665807	0.47677	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.67171	-0.25;-0.25	5.56	5.56	0.83823	Sodium/calcium exchanger membrane region (1);	0.039223	0.85682	D	0.000000	T	0.60805	0.2297	L	0.37897	1.145	0.58432	D	0.999999	P;P	0.36354	0.549;0.505	B;B	0.39617	0.272;0.305	T	0.59632	-0.7418	10	0.32370	T	0.25	.	16.021	0.80493	0.0:0.0:0.0:1.0	.	129;189	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	T	189;129	ENSP00000341550:I189T;ENSP00000389966:I129T	ENSP00000341550:I189T	I	+	2	0	SLC24A5	46214449	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.397000	0.79903	2.240000	0.73641	0.533000	0.62120	ATA	-	SLC24A5	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.323	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	0	0		80	80		0.00		T	NM_205850		48427157	+1	31		36		tier1	no_errors	ENST00000341459	ensembl	human	known	74_37	missense	46.27		SNP	1.000	C	31	36
APOL5	80831	genome.wustl.edu	37	22	36123192	36123192	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:36123192C>T	ENST00000249044.2	+	3	1077	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	359					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGACCTGTTCCAGCTCCCGGG	0.587													ENSG00000128313																																					0													34.0	39.0	37.0					22																	36123192		2199	4287	6486	SO:0001819	synonymous_variant	0			-	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1077C>T	22.37:g.36123192C>T			Q5TFL9|Q9UGW5	Silent	SNP	pfam_ApoL	p.S359	ENST00000249044.2	37	c.1077	CCDS13920.1	22																																																																																			-	APOL5	-	NULL		0.587	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL5	HGNC	protein_coding	OTTHUMT00000318979.1	0	0		45	45		0.00		C	NM_030642		36123192	+1	16		36		tier1	no_errors	ENST00000249044	ensembl	human	known	74_37	silent	30.77		SNP	0.002	T	16	36
GPR31	2853	genome.wustl.edu	37	6	167570891	167570891	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:167570891G>A	ENST00000366834.1	-	1	926	c.429C>T	c.(427-429)gtC>gtT	p.V143V		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	143					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGTGAGGGCGACCATCAGGA	0.642													ENSG00000120436																																					0													49.0	58.0	54.0					6																	167570891		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.429C>T	6.37:g.167570891G>A			B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V143	ENST00000366834.1	37	c.429	CCDS5299.1	6																																																																																			-	GPR31	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	HGNC	protein_coding	OTTHUMT00000043111.1	0	0		60	60		0.00		G	NM_005299		167570891	-1	21		78		tier1	no_errors	ENST00000366834	ensembl	human	known	74_37	silent	21.21		SNP	0.000	A	21	78
FBRS	64319	genome.wustl.edu	37	16	30681594	30681594	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30681594C>T	ENST00000287468.5	+	0	2274				FBRS_ENST00000356166.6_3'UTR|FBRS_ENST00000395073.2_Missense_Mutation_p.P391L|FBRS_ENST00000568722.1_3'UTR	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin											ovary(1)	1			Colorectal(24;0.103)			CAGGCTTCTCCCTGGGAAGGT	0.627													ENSG00000156860																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.*628C>T	16.37:g.30681594C>T			B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	prints_AUTS2	p.P391L	ENST00000287468.5	37	c.1172		16	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633400	0.29068	.	.	ENSG00000156860	ENST00000395073	.	.	.	5.3	2.98	0.34508	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.23396	N	0.997764	.	.	.	.	.	.	T	0.37174	-0.9717	5	0.87932	D	0	.	8.3918	0.32533	0.0:0.7899:0.0:0.2101	.	.	.	.	L	391	.	ENSP00000378511:P391L	P	+	2	0	FBRS	30589095	0.122000	0.22280	0.950000	0.38849	0.872000	0.50106	0.832000	0.27490	1.230000	0.43646	0.501000	0.49751	CCC	-	FBRS	-	NULL		0.627	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		0	0		50	50		0.00		C	NM_022452		30681594	+1	19		63		tier1	no_errors	ENST00000395073	ensembl	human	known	74_37	missense	23.17		SNP	0.275	T	19	63
DSPP	1834	genome.wustl.edu	37	4	88535015	88535015	+	Missense_Mutation	SNP	G	G	A	rs527711624		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:88535015G>A	ENST00000282478.7	+	4	1234	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D401N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	401					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGGTAAAGAGGATAAAGGACA	0.438													ENSG00000152591																																					0													133.0	123.0	126.0					4																	88535015		1946	4140	6086	SO:0001583	missense	0			-	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1201G>A	4.37:g.88535015G>A	ENSP00000282478:p.Asp401Asn		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.D401N	ENST00000282478.7	37	c.1201	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602216	0.13939	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.86366	-2.11;-2.11	4.2	-0.27	0.12926	.	0.421583	0.17464	N	0.173349	T	0.73156	0.3551	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.59408	-0.7460	10	0.45353	T	0.12	0.0722	3.6176	0.08083	0.5884:0.1935:0.2181:0.0	.	401	Q9NZW4	DSPP_HUMAN	N	401	ENSP00000382213:D401N;ENSP00000282478:D401N	ENSP00000282478:D401N	D	+	1	0	DSPP	88754039	0.013000	0.17824	0.006000	0.13384	0.012000	0.07955	0.883000	0.28200	-0.122000	0.11766	-0.738000	0.03535	GAT	-	DSPP	-	NULL		0.438	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	0	0		76	76		0.00		G	NM_014208		88535015	+1	18		45		tier1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	28.57		SNP	0.147	A	18	45
KCNA4	3739	genome.wustl.edu	37	11	30034050	30034050	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:30034050C>T	ENST00000328224.6	-	2	1409	c.176G>A	c.(175-177)gGg>gAg	p.G59E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTGGGAGCCCCCACCAGAACC	0.687													ENSG00000182255																																					0													32.0	35.0	34.0					11																	30034050		1893	4106	5999	SO:0001583	missense	0			-	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.176G>A	11.37:g.30034050C>T	ENSP00000328511:p.Gly59Glu			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G59E	ENST00000328224.6	37	c.176	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895703	0.52121	.	.	ENSG00000182255	ENST00000328224	D	0.96913	-4.17	4.84	4.84	0.62591	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	35.234800	0.00166	N	0.000007	D	0.93259	0.7852	N	0.14661	0.345	0.58432	D	0.99999	B	0.26672	0.156	B	0.24394	0.053	T	0.73307	-0.4024	10	0.62326	D	0.03	.	13.6829	0.62496	0.0:0.8454:0.1546:0.0	.	59	P22459	KCNA4_HUMAN	E	59	ENSP00000328511:G59E	ENSP00000328511:G59E	G	-	2	0	KCNA4	29990626	1.000000	0.71417	0.971000	0.41717	0.578000	0.36192	5.186000	0.65082	2.239000	0.73571	0.561000	0.74099	GGG	-	KC4	-	pfam_K_chnl_volt-dep_Kv1.4_TID,prints_K_chnl_volt-dep_Kv1.4		0.687	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KC4	HGNC	protein_coding	OTTHUMT00000388074.2	0	0		23	23		0.00		C	NM_002233		30034050	-1	4		25		tier1	no_errors	ENST00000328224	ensembl	human	known	74_37	missense	13.79		SNP	1.000	T	4	25
SYNRG	11276	genome.wustl.edu	37	17	35939377	35939377	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:35939377G>A	ENST00000339208.6	-	7	730				SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000346661.4_Intron|SYNRG_ENST00000394378.2_Intron|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000345615.4_Intron|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma						endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTGGGGTGGAGGGGTGGAA	0.552													ENSG00000006114																																					0																																										SO:0001627	intron_variant	0			-	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.590-1666C>T	17.37:g.35939377G>A			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	R	SNP	-	NULL	ENST00000339208.6	37	NULL	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	G	9.746	1.166183	0.21621	.	.	ENSG00000006114	ENST00000394379	.	.	.	5.29	3.23	0.37069	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.37572	-0.9700	7	0.51188	T	0.08	-3.9953	9.193	0.37211	0.0788:0.1516:0.7696:0.0	.	248	A8MYE0	.	F	248	.	ENSP00000377904:S248F	S	-	2	0	SYNRG	33013490	1.000000	0.71417	0.758000	0.31321	0.089000	0.18198	1.427000	0.34881	0.675000	0.31264	0.557000	0.71058	TCC	-	SYNRG	-	-		0.552	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	0	0		95	95		0.00		G	NM_007247		35939377	-1	25		124		tier1	no_errors	ENST00000394379	ensembl	human	known	74_37	rna	16.78		SNP	1.000	A	25	124
EPX	8288	genome.wustl.edu	37	17	56276507	56276507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:56276507G>A	ENST00000225371.5	+	8	1337	c.1227G>A	c.(1225-1227)tgG>tgA	p.W409*		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	409					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ATCCCCGGTGGAATGGAGACA	0.582													ENSG00000121053																																					0													73.0	62.0	66.0					17																	56276507		2203	4300	6503	SO:0001587	stop_gained	0			-	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1227G>A	17.37:g.56276507G>A	ENSP00000225371:p.Trp409*		Q4TVP3	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.W409*	ENST00000225371.5	37	c.1227	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.092364	0.98059	.	.	ENSG00000121053	ENST00000225371	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9639	15.3248	0.74150	0.0:0.0:1.0:0.0	.	.	.	.	X	409	.	ENSP00000225371:W409X	W	+	3	0	EPX	53631506	1.000000	0.71417	0.970000	0.41538	0.963000	0.63663	9.458000	0.97634	2.696000	0.92011	0.655000	0.94253	TGG	-	EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.582	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	0	0		49	49		0.00		G	NM_000502		56276507	+1	19		55		tier1	no_errors	ENST00000225371	ensembl	human	known	74_37	nonsense	25.68		SNP	1.000	A	19	55
ACIN1	22985	genome.wustl.edu	37	14	23535183	23535183	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23535183G>A	ENST00000262710.1	-	10	2801	c.2474C>T	c.(2473-2475)tCc>tTc	p.S825F	ACIN1_ENST00000605057.1_Missense_Mutation_p.S767F|ACIN1_ENST00000338631.6_Missense_Mutation_p.S98F|ACIN1_ENST00000457657.1_Missense_Mutation_p.S785F|ACIN1_ENST00000357481.2_Missense_Mutation_p.S67F|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.S825F|ACIN1_ENST00000557515.1_Missense_Mutation_p.S67F|ACIN1_ENST00000397341.3_Missense_Mutation_p.S67F	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	825					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACAGACAACGGAGATCTTCCT	0.433													ENSG00000100813																																					0													135.0	125.0	128.0					14																	23535183		2203	4300	6503	SO:0001583	missense	0			-	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2474C>T	14.37:g.23535183G>A	ENSP00000262710:p.Ser825Phe		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.S825F	ENST00000262710.1	37	c.2474	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965613	0.74131	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.22743	3.36;3.36;3.36;1.94;1.96;3.36;3.41	5.27	5.27	0.74061	.	0.000000	0.40554	N	0.001067	T	0.41926	0.1180	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.998;0.998	T	0.15521	-1.0434	10	0.72032	D	0.01	-6.6368	17.8218	0.88652	0.0:0.0:1.0:0.0	.	825;825;785;98;67	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	F	67;98;67;825;785;67;825;67	ENSP00000451138:S67F;ENSP00000345541:S98F;ENSP00000350073:S67F;ENSP00000262710:S825F;ENSP00000405677:S785F;ENSP00000380502:S67F;ENSP00000451328:S825F	ENSP00000262710:S825F	S	-	2	0	ACIN1	22605023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.007000	0.70731	2.749000	0.94314	0.655000	0.94253	TCC	-	ACIN1	-	NULL		0.433	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	0	0		90	90		0.00		G	NM_014977		23535183	-1	30		28		tier1	no_errors	ENST00000262710	ensembl	human	known	74_37	missense	51.72		SNP	1.000	A	30	28
SMPD3	55512	genome.wustl.edu	37	16	68405671	68405671	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:68405671G>A	ENST00000219334.5	-	3	1017	c.414C>T	c.(412-414)ctC>ctT	p.L138L	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Silent_p.L138L|SMPD3_ENST00000563226.1_Silent_p.L138L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	138					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGACCCTGGCGAGTGAGTCGG	0.612													ENSG00000103056																																					0													17.0	20.0	19.0					16																	68405671		2197	4299	6496	SO:0001819	synonymous_variant	0			-	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.414C>T	16.37:g.68405671G>A			B7ZL82|Q2M1S8	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L138	ENST00000219334.5	37	c.414	CCDS10867.1	16																																																																																			-	SMPD3	-	NULL		0.612	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	HGNC	protein_coding	OTTHUMT00000268895.3	0	0		73	73		0.00		G	NM_018667		68405671	-1	19		43		tier1	no_errors	ENST00000219334	ensembl	human	known	74_37	silent	30.65		SNP	0.988	A	19	43
SLC25A39	51629	genome.wustl.edu	37	17	42399810	42399810	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42399810G>A	ENST00000377095.5	-	5	420	c.301C>T	c.(301-303)Cct>Tct	p.P101S	SLC25A39_ENST00000537904.2_Missense_Mutation_p.P78S|SLC25A39_ENST00000225308.8_Missense_Mutation_p.P93S|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Missense_Mutation_p.P93S	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	101					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGCGGGTAGGGTCTTGAAAC	0.602													ENSG00000013306																																					0													98.0	78.0	85.0					17																	42399810		2203	4300	6503	SO:0001583	missense	0			-	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.301C>T	17.37:g.42399810G>A	ENSP00000366299:p.Pro101Ser		A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.P101S	ENST00000377095.5	37	c.301	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844829	0.71603	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.78246	-1.16;-1.16;-1.16	5.38	5.38	0.77491	Mitochondrial carrier domain (2);	0.122142	0.56097	D	0.000025	T	0.79493	0.4455	N	0.17312	0.475	0.58432	D	0.999995	D;D;B;D;B	0.89917	1.0;1.0;0.238;0.976;0.095	D;D;B;P;B	0.97110	0.993;1.0;0.101;0.859;0.061	T	0.74999	-0.3472	10	0.18276	T	0.48	-28.2604	18.9412	0.92605	0.0:0.0:1.0:0.0	.	86;93;78;101;93	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	S	93;101;78	ENSP00000225308:P93S;ENSP00000366299:P101S;ENSP00000444540:P78S	ENSP00000225308:P93S	P	-	1	0	SLC25A39	39755336	1.000000	0.71417	0.984000	0.44739	0.506000	0.33950	5.049000	0.64244	2.793000	0.96121	0.655000	0.94253	CCT	-	SLC25A39	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.602	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	HGNC	protein_coding	OTTHUMT00000457745.1	0	0		53	53		0.00		G	NM_016016		42399810	-1	28		44		tier1	no_errors	ENST00000377095	ensembl	human	known	74_37	missense	38.89		SNP	0.999	A	28	44
USP48	84196	genome.wustl.edu	37	1	22074761	22074761	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:22074761C>T	ENST00000308271.9	-	7	1426	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	USP48_ENST00000400301.1_Missense_Mutation_p.E260K|USP48_ENST00000529637.1_Missense_Mutation_p.E260K|USP48_ENST00000421625.2_Missense_Mutation_p.E260K	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	260	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCTAATTTTTCTTCCTGATCA	0.313													ENSG00000090686																																					0													90.0	81.0	84.0					1																	22074761		2203	4300	6503	SO:0001583	missense	0			-	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.778G>A	1.37:g.22074761C>T	ENSP00000309262:p.Glu260Lys		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.E260K	ENST00000308271.9	37	c.778	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.316923	0.95682	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.61	5.61	0.85477	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;0.999;0.997;0.998;1.0	T	0.54323	-0.8311	10	0.87932	D	0	.	18.6387	0.91387	0.0:1.0:0.0:0.0	.	260;260;260;260;260;260	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	K	260	ENSP00000383157:E260K;ENSP00000309262:E260K;ENSP00000431949:E260K;ENSP00000406256:E260K	ENSP00000309262:E260K	E	-	1	0	USP48	21947348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.746000	0.85057	2.635000	0.89317	0.563000	0.77884	GAA	-	USP48	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.313	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	0	0		48	48		0.00		C	NM_032236		22074761	-1	18		29		tier1	no_errors	ENST00000308271	ensembl	human	known	74_37	missense	38.30		SNP	1.000	T	18	29
TNXB	7148	genome.wustl.edu	37	6	32017938	32017938	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32017938G>A	ENST00000375244.3	-	27	9477	c.9276C>T	c.(9274-9276)gtC>gtT	p.V3092V	TNXB_ENST00000375247.2_Silent_p.V3090V			P22105	TENX_HUMAN	tenascin XB	3137					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCTGTACTGGACCAGGAAGT	0.637													ENSG00000168477																																					0													63.0	67.0	66.0					6																	32017938		1215	2520	3735	SO:0001819	synonymous_variant	0			-	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9276C>T	6.37:g.32017938G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V3090	ENST00000375244.3	37	c.9270		6																																																																																			-	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	0	0		53	53		0.00		G	NM_019105		32017938	-1	11		46		tier1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	19.30		SNP	0.999	A	11	46
FBXO18	84893	genome.wustl.edu	37	10	5932244	5932244	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5932244G>A	ENST00000362091.4	+	0	51				FBXO18_ENST00000470089.1_3'UTR|ANKRD16_ENST00000380092.4_5'Flank|FBXO18_ENST00000397269.3_Intron|ANKRD16_ENST00000191063.8_5'Flank|ANKRD16_ENST00000380094.5_5'Flank	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGGGGACGCTGGGCTGAgcgg	0.801													ENSG00000134452																																					0													1.0	1.0	1.0					10																	5932244		152	328	480	SO:0001623	5_prime_UTR_variant	0			-	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.-65G>A	10.37:g.5932244G>A			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	R	SNP	-	NULL	ENST00000362091.4	37	NULL	CCDS7072.1	10																																																																																			-	FBXO18	-	-		0.801	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	0	0		23	23		0.00		G	NM_032807		5932244	+1	9		22		tier1	no_errors	ENST00000462507	ensembl	human	known	74_37	rna	29.03		SNP	0.077	A	9	22
PRUNE2	158471	genome.wustl.edu	37	9	79321687	79321687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:79321687G>A	ENST00000376718.3	-	8	5626	c.5503C>T	c.(5503-5505)Cag>Tag	p.Q1835*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.Q1476*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1835					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCCTTCCTGGGGTGAGGCC	0.468													ENSG00000106772																																					0													49.0	43.0	45.0					9																	79321687		1568	3582	5150	SO:0001587	stop_gained	0			-	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5503C>T	9.37:g.79321687G>A	ENSP00000365908:p.Gln1835*		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.Q1476*	ENST00000376718.3	37	c.4426	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.694435|5.694435	0.96793|0.96793	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	T|.	0.42131|.	0.98|.	5.89|5.89	3.03|3.03	0.35002|0.35002	.|.	.|0.269276	.|0.26241	.|N	.|0.025508	T|.	0.20129|.	0.0484|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15435|.	-1.0437|.	6|.	0.26408|0.19147	T|T	0.33|0.46	-2.0758|-2.0758	3.7421|3.7421	0.08534|0.08534	0.1494:0.1315:0.5834:0.1358|0.1494:0.1315:0.5834:0.1358	.|.	.|.	.|.	.|.	L|X	1156|1835;1476;1834	ENSP00000389706:P1156L|.	ENSP00000389706:P1156L|ENSP00000365908:Q1835X	P|Q	-|-	2|1	0|0	PRUNE2|PRUNE2	78511507|78511507	0.009000|0.009000	0.17119|0.17119	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	1.725000|1.725000	0.38074|0.38074	0.387000|0.387000	0.25024|0.25024	-0.310000|-0.310000	0.09108|0.09108	CCA|CAG	-	PRUNE2	-	NULL		0.468	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	0	0		37	37		0.00		G	NM_138818		79321687	-1	15		25		tier1	no_errors	ENST00000428286	ensembl	human	known	74_37	nonsense	37.50		SNP	0.001	A	15	25
DAPK1	1612	genome.wustl.edu	37	9	90321074	90321074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:90321074C>T	ENST00000408954.3	+	26	3423	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.Q1030*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.Q1030*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.Q1055*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.Q964*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1030					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGAAACAGTTCAGGACGTGCT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of				ENSG00000196730																																					0													60.0	64.0	63.0					9																	90321074		2068	4204	6272	SO:0001587	stop_gained	0	Familial Cancer Database	Familial CLL	-	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3088C>T	9.37:g.90321074C>T	ENSP00000386135:p.Gln1030*		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.Q1055*	ENST00000408954.3	37	c.3163	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.597738	0.99216	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.62	4.73	0.59995	.	0.000000	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.6356	0.68686	0.0:0.9301:0.0:0.0699	.	.	.	.	X	1030;1030;1055;1030;964	.	ENSP00000350785:Q1030X	Q	+	1	0	DAPK1	89510894	1.000000	0.71417	0.969000	0.41365	0.895000	0.52256	5.898000	0.69838	1.385000	0.46445	0.655000	0.94253	CAG	-	DAPK1	-	NULL		0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	0	0		28	28		0.00		C	NM_004938		90321074	+1	15		41		tier1	no_errors	ENST00000469640	ensembl	human	known	74_37	nonsense	26.79		SNP	1.000	T	15	41
CELSR1	9620	genome.wustl.edu	37	22	46787588	46787588	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:46787588G>A	ENST00000262738.3	-	15	6089	c.6090C>T	c.(6088-6090)ggC>ggT	p.G2030G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2030	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCACTGGCGGCCGATGACGC	0.682													ENSG00000075275																																					0													29.0	30.0	30.0					22																	46787588		2198	4298	6496	SO:0001819	synonymous_variant	0			-	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6090C>T	22.37:g.46787588G>A			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	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.G2030	ENST00000262738.3	37	c.6090	CCDS14076.1	22																																																																																			-	CELSR1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	0	0		60	60		0.00		G	NM_014246		46787588	-1	35		84		tier1	no_errors	ENST00000262738	ensembl	human	known	74_37	silent	29.41		SNP	0.998	A	35	84
GBE1	2632	genome.wustl.edu	37	3	81548274	81548274	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:81548274G>A	ENST00000429644.2	-	15	2682	c.2039C>T	c.(2038-2040)cCc>cTc	p.P680L	GBE1_ENST00000489715.1_Missense_Mutation_p.P639L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	680					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AAGAGAATAGGGACGCCCATT	0.348									Glycogen Storage Disease, type IV				ENSG00000114480																																					0													79.0	72.0	74.0					3																	81548274		1813	4083	5896	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.2039C>T	3.37:g.81548274G>A	ENSP00000410833:p.Pro680Leu		B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.P680L	ENST00000429644.2	37	c.2039	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375107	0.42105	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	T;T	0.78246	-1.16;-1.16	5.35	4.45	0.53987	Alpha-amylase, C-terminal all beta (1);Glycosyl hydrolase, family 13, all-beta (1);	0.357212	0.29152	N	0.012987	T	0.79741	0.4498	M	0.85777	2.775	0.46586	D	0.999111	B	0.32350	0.366	B	0.32022	0.139	T	0.80741	-0.1247	10	0.72032	D	0.01	-5.9847	13.2219	0.59892	0.0:0.0:0.8406:0.1594	.	680	Q04446	GLGB_HUMAN	L	680;731;639;443	ENSP00000410833:P680L;ENSP00000419638:P639L	ENSP00000264326:P731L	P	-	2	0	GBE1	81630964	0.999000	0.42202	0.034000	0.17996	0.864000	0.49448	4.330000	0.59266	1.208000	0.43306	0.650000	0.86243	CCC	-	GBE1	-	pfam_A-amylase_b_C		0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	0	0		94	94		0.00		G			81548274	-1	21		98		tier1	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	17.65		SNP	0.872	A	21	98
B4GALNT2	124872	genome.wustl.edu	37	17	47218739	47218739	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47218739C>T	ENST00000300404.2	+	2	384	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.P23S|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.P49S	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	109					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AAGTCCTGCCCCGGGTGTCCA	0.507													ENSG00000167080																									GBM(124;244 1635 8663 18097 33175)												0													93.0	94.0	94.0					17																	47218739		2203	4300	6503	SO:0001583	missense	0			-	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.325C>T	17.37:g.47218739C>T	ENSP00000300404:p.Pro109Ser		B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.P109S	ENST00000300404.2	37	c.325	CCDS11544.1	17	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489424	0.26686	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.23950	1.88;2.0;2.3	5.38	2.17	0.27698	.	2.724150	0.01294	N	0.010139	T	0.18593	0.0446	N	0.19112	0.55	0.09310	N	1	B;B	0.18968	0.032;0.003	B;B	0.19391	0.025;0.009	T	0.18935	-1.0321	10	0.41790	T	0.15	0.0683	4.163	0.10293	0.164:0.5906:0.1584:0.087	.	49;109	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	S	23;49;109	ENSP00000425510:P23S;ENSP00000377022:P49S;ENSP00000300404:P109S	ENSP00000300404:P109S	P	+	1	0	B4GALNT2	44573738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.567000	0.05916	0.298000	0.22638	0.563000	0.77884	CCG	-	B4GALNT2	-	pirsf_GM2_synthase		0.507	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	0	0		44	44		0.00		C	NM_153446		47218739	+1	21		47		tier1	no_errors	ENST00000300404	ensembl	human	known	74_37	missense	30.88		SNP	0.000	T	21	47
PDE1C	5137	genome.wustl.edu	37	7	31877578	31877578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:31877578G>A	ENST00000396191.1	-	10	1443	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PDE1C_ENST00000321453.7_Nonsense_Mutation_p.R330*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.R330*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.R390*|PDE1C_ENST00000396184.3_Nonsense_Mutation_p.R330*	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	330	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ACCAAGGTTCGAAACTCCCTT	0.388													ENSG00000154678																																					0													172.0	176.0	174.0					7																	31877578		2203	4300	6503	SO:0001587	stop_gained	0			-	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.988C>T	7.37:g.31877578G>A	ENSP00000379494:p.Arg330*		B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R330*	ENST00000396191.1	37	c.988	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	G	38	7.236130	0.98154	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4	0.67037	0.0:0.0:0.8155:0.1845	.	.	.	.	X	390;330;330;330;330	.	ENSP00000318105:R330X	R	-	1	2	PDE1C	31844103	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.152000	0.64882	2.716000	0.92895	0.655000	0.94253	CGA	-	PDE1C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.388	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	0	0		79	79		0.00		G			31877578	-1	9		52		tier1	no_errors	ENST00000321453	ensembl	human	known	74_37	nonsense	14.75		SNP	1.000	A	9	52
PCLO	27445	genome.wustl.edu	37	7	82387942	82387942	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82387942T>G	ENST00000333891.9	-	25	15715	c.15378A>C	c.(15376-15378)aaA>aaC	p.K5126N		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						TGACTATTCTTTTTCTGAGAT	0.378													ENSG00000186472																																					0													241.0	229.0	233.0					7																	82387942		1839	4084	5923	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.15378A>C	7.37:g.82387942T>G	ENSP00000334319:p.Lys5126Asn			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.K5126N	ENST00000333891.9	37	c.15378	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614557	0.46631	.	.	ENSG00000186472	ENST00000333891	T	0.07908	3.15	5.51	5.51	0.81932	.	0.000000	0.46442	U	0.000290	T	0.15609	0.0376	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02491	-1.1151	10	0.87932	D	0	.	10.0426	0.42166	0.0:0.0752:0.0:0.9248	.	5126	Q9Y6V0-5	.	N	5126	ENSP00000334319:K5126N	ENSP00000334319:K5126N	K	-	3	2	PCLO	82225878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.864000	0.56024	2.100000	0.63781	0.477000	0.44152	AAA	-	PCLO	-	superfamily_C2_dom,smart_C2_dom		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		49	49		0.00		T	NM_014510		82387942	-1	25		49		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	33.78		SNP	1.000	G	25	49
MAK16	84549	genome.wustl.edu	37	8	33355983	33355983	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:33355983G>A	ENST00000360128.6	+	10	1196	c.739G>A	c.(739-741)Gat>Aat	p.D247N	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	247	Asp-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CAGTGATGAAGATCAGGATGG	0.458													ENSG00000198042																																					0													73.0	69.0	70.0					8																	33355983		2203	4300	6503	SO:0001583	missense	0			-	AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.739G>A	8.37:g.33355983G>A	ENSP00000353246:p.Asp247Asn		B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	pfam_Mak16,pirsf_Mak16	p.D247N	ENST00000360128.6	37	c.739	CCDS6089.1	8	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681718	0.68042	.	.	ENSG00000198042	ENST00000360128	T	0.51817	0.69	5.17	5.17	0.71159	.	0.454767	0.25321	N	0.031511	T	0.46073	0.1374	M	0.61703	1.905	0.51233	D	0.999914	P	0.35433	0.501	B	0.28139	0.086	T	0.48768	-0.9006	10	0.41790	T	0.15	-2.5555	18.2666	0.90054	0.0:0.0:1.0:0.0	.	247	Q9BXY0	MAK16_HUMAN	N	247	ENSP00000353246:D247N	ENSP00000353246:D247N	D	+	1	0	MAK16	33475525	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.020000	0.93667	2.412000	0.81896	0.467000	0.42956	GAT	-	MAK16	-	pirsf_Mak16		0.458	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK16	HGNC	protein_coding	OTTHUMT00000376559.3	0	0		68	68		0.00		G	NM_032509		33355983	+1	25		50		tier1	no_errors	ENST00000360128	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	25	50
MRPL19	9801	genome.wustl.edu	37	2	75879778	75879778	+	Missense_Mutation	SNP	G	G	C	rs368836903		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:75879778G>C	ENST00000393909.2	+	4	495	c.470G>C	c.(469-471)gGa>gCa	p.G157A	MRPL19_ENST00000358788.6_Missense_Mutation_p.G157A|MRPL19_ENST00000409374.1_Missense_Mutation_p.G157A	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	157					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						GTTATCGAAGGACAAGGTAAG	0.373													ENSG00000115364																																					0								G	ALA/GLY	0,3680		0,0,1840	116.0	104.0	108.0		470	5.4	1.0	2		108	2,8176		0,2,4087	no	missense	MRPL19	NM_014763.3	60	0,2,5927	CC,CG,GG		0.0245,0.0,0.0169	probably-damaging	157/293	75879778	2,11856	1840	4089	5929	SO:0001583	missense	0			-	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.470G>C	2.37:g.75879778G>C	ENSP00000377486:p.Gly157Ala		Q53TX9|Q96Q52	Missense_Mutation	SNP	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19	p.G157A	ENST00000393909.2	37	c.470	CCDS1960.2	2	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930311	0.52866	0.0	2.45E-4	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.39	5.39	0.77823	Translation protein SH3-like (1);	0.254128	0.45126	D	0.000382	D	0.83658	0.5302	M	0.92880	3.355	0.80722	D	1	D	0.58268	0.982	P	0.57679	0.825	D	0.87494	0.2429	9	0.72032	D	0.01	-14.2675	17.0358	0.86474	0.0:0.0:1.0:0.0	.	157	P49406	RM19_HUMAN	A	157	.	ENSP00000377486:G157A	G	+	2	0	MRPL19	75733286	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	4.122000	0.57910	2.708000	0.92522	0.650000	0.86243	GGA	-	MRPL19	-	pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19		0.373	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL19	HGNC	protein_coding	OTTHUMT00000252256.1	0	0		38	38		0.00		G	NM_014763		75879778	+1	11		26		tier1	no_errors	ENST00000393909	ensembl	human	known	74_37	missense	29.73		SNP	1.000	C	11	26
PLEKHM2	23207	genome.wustl.edu	37	1	16057088	16057088	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16057088C>T	ENST00000375799.3	+	15	2497	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S737F|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	757					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACAGACGAGTCCCTGGGCCCC	0.652													ENSG00000116786																																					0													39.0	48.0	45.0					1																	16057088		2110	4212	6322	SO:0001583	missense	0			-	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2270C>T	1.37:g.16057088C>T	ENSP00000364956:p.Ser757Phe		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.S757F	ENST00000375799.3	37	c.2270	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	9.990	1.230457	0.22542	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.45668	0.89;0.89	5.27	0.855	0.19013	.	0.441350	0.25247	N	0.032047	T	0.22475	0.0542	N	0.14661	0.345	0.27319	N	0.957099	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.21014	T	0.42	-5.6781	10.846	0.46743	0.0:0.5652:0.3668:0.068	.	757	Q8IWE5	PKHM2_HUMAN	F	757;737	ENSP00000364956:S757F;ENSP00000364950:S737F	ENSP00000364950:S737F	S	+	2	0	PLEKHM2	15929675	0.019000	0.18553	0.998000	0.56505	0.615000	0.37417	1.707000	0.37888	0.180000	0.19960	0.655000	0.94253	TCC	-	PLEKHM2	-	NULL		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	0	0		32	32		0.00		C	NM_015164		16057088	+1	9		22		tier1	no_errors	ENST00000375799	ensembl	human	known	74_37	missense	29.03		SNP	0.986	T	9	22
ZBTB18	10472	genome.wustl.edu	37	1	244217518	244217518	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:244217518G>A	ENST00000358704.4	+	2	591	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	139					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAGTTGTTCGGACAAAGTCGA	0.468													ENSG00000179456																																					0													69.0	62.0	64.0					1																	244217518		2203	4300	6503	SO:0001583	missense	0			-	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.442G>A	1.37:g.244217518G>A	ENSP00000351539:p.Asp148Asn		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D148N	ENST00000358704.4	37	c.442	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263140	0.80358	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12774	2.65	5.28	5.28	0.74379	.	0.046730	0.85682	D	0.000000	T	0.20901	0.0503	N	0.24115	0.695	0.80722	D	1	D;D;D	0.67145	0.996;0.982;0.978	P;P;P	0.57679	0.825;0.676;0.643	T	0.02098	-1.1214	10	0.33141	T	0.24	.	18.9107	0.92483	0.0:0.0:1.0:0.0	.	148;139;148	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	N	148	ENSP00000351539:D148N	ENSP00000351539:D148N	D	+	1	0	ZNF238	242284141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.431000	0.97494	2.475000	0.83589	0.650000	0.86243	GAC	-	ZBTB18	-	NULL		0.468	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	HGNC	protein_coding	OTTHUMT00000096513.2	0	0		25	25		0.00		G	NM_205768		244217518	+1	15		23		tier1	no_errors	ENST00000358704	ensembl	human	known	74_37	missense	39.47		SNP	1.000	A	15	23
TTLL6	284076	genome.wustl.edu	37	17	46865262	46865262	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:46865262C>T	ENST00000393382.3	-	11	1641	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	TTLL6_ENST00000433608.2_Silent_p.L193L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTCCGAATTCAGACTGGGAT	0.488													ENSG00000170703																																					0													172.0	185.0	180.0					17																	46865262		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1500G>A	17.37:g.46865262C>T				Silent	SNP	pfam_TTL/TTLL_fam	p.L500	ENST00000393382.3	37	c.1500	CCDS45724.1	17																																																																																			-	TTLL6	-	NULL		0.488	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	0	0		83	83		0.00		C	NM_173623		46865262	-1	33		55		tier1	no_errors	ENST00000393382	ensembl	human	known	74_37	silent	37.50		SNP	0.005	T	33	55
NOL9	79707	genome.wustl.edu	37	1	6586798	6586798	+	Silent	SNP	G	G	T	rs140463809	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:6586798G>T	ENST00000377705.5	-	11	1949	c.1917C>A	c.(1915-1917)ctC>ctA	p.L639L		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	639					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TAGCTCCAACGAGCAGACAAT	0.562													ENSG00000162408																																					0													137.0	121.0	126.0					1																	6586798		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1917C>A	1.37:g.6586798G>T			Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Silent	SNP	pfam_Pre-mR_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.L639	ENST00000377705.5	37	c.1917	CCDS80.1	1																																																																																			-	NOL9	-	pfam_Pre-mR_cleavage_cplxII_Clp1		0.562	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	0	0		40	40		0.00		G	NM_024654		6586798	-1	21		26		tier1	no_errors	ENST00000377705	ensembl	human	known	74_37	silent	44.68		SNP	0.005	T	21	26
ABCB8	11194	genome.wustl.edu	37	7	150741290	150741290	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150741290C>T	ENST00000297504.6	+	16	2115	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A	ABCB8_ENST00000358849.4_Silent_p.A666A|ABCB8_ENST00000542328.1_Silent_p.A578A|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Intron			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	683	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	TCGTCATGGCCGATGGCCGTG	0.607													ENSG00000197150																																					0													113.0	85.0	95.0					7																	150741290		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2049C>T	7.37:g.150741290C>T			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	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.A683	ENST00000297504.6	37	c.2049		7																																																																																			-	ABCB8	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.607	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	0	0		46	46		0.00		C	NM_007188		150741290	+1	34		51		tier1	no_errors	ENST00000297504	ensembl	human	known	74_37	silent	40.00		SNP	0.177	T	34	51
ARHGAP21	57584	genome.wustl.edu	37	10	24874032	24874032	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:24874032G>A	ENST00000396432.2	-	26	5672	c.5186C>T	c.(5185-5187)tCg>tTg	p.S1729L		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1728	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTAGTTAACGAAGGTGCTTC	0.403													ENSG00000107863																																					0													120.0	123.0	122.0					10																	24874032		2202	4299	6501	SO:0001583	missense	0			-	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5186C>T	10.37:g.24874032G>A	ENSP00000379709:p.Ser1729Leu		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S1729L	ENST00000396432.2	37	c.5186	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	8.811	0.935146	0.18206	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.11277	2.79	5.07	5.07	0.68467	.	0.552055	0.18328	N	0.144581	T	0.15825	0.0381	L	0.56769	1.78	0.80722	D	1	B	0.24426	0.103	B	0.19666	0.026	T	0.02705	-1.1121	10	0.52906	T	0.07	.	18.4491	0.90696	0.0:0.0:1.0:0.0	.	1728	Q5T5U3	RHG21_HUMAN	L	1729;1178	ENSP00000379709:S1729L	ENSP00000379709:S1729L	S	-	2	0	ARHGAP21	24914038	0.983000	0.35010	0.068000	0.19968	0.049000	0.14656	6.125000	0.71627	2.332000	0.79248	0.591000	0.81541	TCG	-	ARHGAP21	-	NULL		0.403	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	0	0		98	98		0.00		G	NM_020824		24874032	-1	18		66		tier1	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	21.43		SNP	0.926	A	18	66
ERGIC1	57222	genome.wustl.edu	37	5	172347428	172347428	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:172347428C>T	ENST00000393784.3	+	6	514				ERGIC1_ENST00000523291.1_3'UTR	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1						ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGCCTCACCAGAGACCCCA	0.582													ENSG00000113719																																					0																																										SO:0001627	intron_variant	0			-	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.376-3580C>T	5.37:g.172347428C>T			Q9H0L0|Q9H2J2|Q9ULN9	R	SNP	-	NULL	ENST00000393784.3	37	NULL	CCDS34292.1	5																																																																																			-	ERGIC1	-	-		0.582	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	HGNC	protein_coding	OTTHUMT00000252938.3	0	0		52	52		0.00		C	NM_020462		172347428	+1	15		78		tier1	no_errors	ENST00000523650	ensembl	human	known	74_37	rna	15.96		SNP	0.005	T	15	78
KRT14	3861	genome.wustl.edu	37	17	39739833	39739833	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39739833C>T	ENST00000167586.6	-	5	1109	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	341	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCTCAATCTCCAGGTTCTGCA	0.612													ENSG00000186847																																					0													81.0	73.0	76.0					17																	39739833		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1023G>A	17.37:g.39739833C>T			Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L341	ENST00000167586.6	37	c.1023	CCDS11400.1	17																																																																																			-	KRT14	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I		0.612	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	0	0		44	44		0.00		C	NM_000526		39739833	-1	12		35		tier1	no_errors	ENST00000167586	ensembl	human	known	74_37	silent	25.53		SNP	1.000	T	12	35
CYP2J2	1573	genome.wustl.edu	37	1	60359339	60359339	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:60359339G>A	ENST00000371204.3	-	9	1536	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	498					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CTGAGGAACAGCGCAGAGGCG	0.463													ENSG00000134716																																					0													293.0	317.0	309.0					1																	60359339		2203	4300	6503	SO:0001583	missense	0			-	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1493C>T	1.37:g.60359339G>A	ENSP00000360247:p.Ala498Val		B2RD33|Q8TF13	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.A498V	ENST00000371204.3	37	c.1493	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.962125	0.97151	.	.	ENSG00000134716	ENST00000371204	T	0.78126	-1.15	5.88	5.88	0.94601	.	0.054253	0.64402	D	0.000001	D	0.85745	0.5768	M	0.69823	2.125	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.80739	-0.1248	10	0.10377	T	0.69	.	17.1682	0.86821	0.0:0.0:1.0:0.0	.	498	P51589	CP2J2_HUMAN	V	498	ENSP00000360247:A498V	ENSP00000360247:A498V	A	-	2	0	CYP2J2	60131927	1.000000	0.71417	0.926000	0.36857	0.602000	0.36980	5.987000	0.70571	2.794000	0.96219	0.655000	0.94253	GCT	-	CYP2J2	-	superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2J-like		0.463	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	0	0		82	82		0.00		G	NM_000775		60359339	-1	32		73		tier1	no_errors	ENST00000371204	ensembl	human	known	74_37	missense	30.48		SNP	1.000	A	32	73
TMEM119	338773	genome.wustl.edu	37	12	108985902	108985902	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:108985902C>T	ENST00000392806.3	-	2	426	c.258G>A	c.(256-258)ggG>ggA	p.G86G		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	86					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGTCCACTATCCCATCCAGGA	0.652													ENSG00000183160																																					0													91.0	91.0	91.0					12																	108985902		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.258G>A	12.37:g.108985902C>T			Q6UXE5|Q8N2F5	Silent	SNP	NULL	p.G86	ENST00000392806.3	37	c.258	CCDS9119.1	12																																																																																			-	TMEM119	-	NULL		0.652	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM119	HGNC	protein_coding	OTTHUMT00000403900.1	0	0		28	28		0.00		C	NM_181724		108985902	-1	8		20		tier1	no_errors	ENST00000392806	ensembl	human	known	74_37	silent	28.57		SNP	0.725	T	8	20
SCN10A	6336	genome.wustl.edu	37	3	38768307	38768307	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38768307C>T	ENST00000449082.2	-	16	2876	c.2877G>A	c.(2875-2877)gaG>gaA	p.E959E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	959					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAATGTGGTTCTCAGCCTTGG	0.602													ENSG00000185313																																					0													61.0	63.0	62.0					3																	38768307		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2877G>A	3.37:g.38768307C>T			A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.E959	ENST00000449082.2	37	c.2877	CCDS33736.1	3																																																																																			-	SCN10A	-	pfam_Na_trans_assoc		0.602	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	0	0		28	28		0.00		C	NM_006514		38768307	-1	9		25		tier1	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	26.47		SNP	0.038	T	9	25
ANK1	286	genome.wustl.edu	37	8	41526059	41526059	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41526059C>T	ENST00000347528.4	-	39	5203	c.5120G>A	c.(5119-5121)gGc>gAc	p.G1707D	ANK1_ENST00000396942.1_Missense_Mutation_p.G1707D|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Missense_Mutation_p.G1707D|ANK1_ENST00000289734.7_Missense_Mutation_p.G1707D|ANK1_ENST00000265709.8_Missense_Mutation_p.G1748D|ANK1_ENST00000379758.2_Missense_Mutation_p.G1707D|ANK1_ENST00000396945.1_Missense_Mutation_p.G1707D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1707	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GACAATCGAGCCGTCTGCATC	0.552													ENSG00000029534																																					0													93.0	73.0	80.0					8																	41526059		2203	4300	6503	SO:0001583	missense	0			-	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5120G>A	8.37:g.41526059C>T	ENSP00000339620:p.Gly1707Asp		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	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.G1707D	ENST00000347528.4	37	c.5120	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	3.632	-0.075408	0.07184	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.67523	-0.23;-0.21;-0.2;-0.27;-0.2;-0.22;-0.22	4.22	4.22	0.49857	.	0.301944	0.29668	N	0.011509	T	0.69922	0.3165	L	0.34521	1.04	0.43678	D	0.996116	D;P;P;D;D;P	0.69078	0.997;0.933;0.85;0.996;0.997;0.89	D;P;B;P;D;B	0.64776	0.929;0.483;0.265;0.89;0.929;0.358	T	0.66364	-0.5942	10	0.27785	T	0.31	.	14.2493	0.66009	0.0:1.0:0.0:0.0	.	1748;1545;1707;1707;1707;861	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	D	1707;1707;1707;1707;1707;1707;1748	ENSP00000339620:G1707D;ENSP00000289734:G1707D;ENSP00000369082:G1707D;ENSP00000380149:G1707D;ENSP00000380147:G1707D;ENSP00000309131:G1707D;ENSP00000265709:G1748D	ENSP00000265709:G1748D	G	-	2	0	ANK1	41645216	1.000000	0.71417	0.910000	0.35882	0.128000	0.20619	4.278000	0.58946	2.376000	0.81061	0.462000	0.41574	GGC	-	ANK1	-	NULL		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	0	0		42	42		0.00		C	NM_020475		41526059	-1	6		36		tier1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	14.29		SNP	0.998	T	6	36
PCSK1	5122	genome.wustl.edu	37	5	95729033	95729033	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:95729033C>A	ENST00000311106.3	-	14	2171	c.1934G>T	c.(1933-1935)aGc>aTc	p.S645I	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.S598I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	645					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCTGCTGGGGCTTTTGGACAC	0.537													ENSG00000175426																																					0													58.0	62.0	61.0					5																	95729033		2203	4299	6502	SO:0001583	missense	0			-		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1934G>T	5.37:g.95729033C>A	ENSP00000308024:p.Ser645Ile		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.S645I	ENST00000311106.3	37	c.1934	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602962	0.28534	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.67698	-0.12;-0.28	5.62	1.57	0.23409	.	0.475365	0.22609	N	0.057841	T	0.33147	0.0853	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09292	-1.0681	10	0.30854	T	0.27	-5.4697	0.75	0.00989	0.2725:0.3598:0.1327:0.235	.	598;645	E9PHA1;P29120	.;NEC1_HUMAN	I	645;598	ENSP00000308024:S645I;ENSP00000421600:S598I	ENSP00000308024:S645I	S	-	2	0	PCSK1	95754789	0.000000	0.05858	0.408000	0.26446	0.015000	0.08874	0.236000	0.17967	0.270000	0.21984	0.655000	0.94253	AGC	-	PCSK1	-	NULL		0.537	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1	0	0		44	44		0.00		C	NM_000439		95729033	-1	22		36		tier1	no_errors	ENST00000311106	ensembl	human	known	74_37	missense	37.93		SNP	0.028	A	22	36
CASKIN2	57513	genome.wustl.edu	37	17	73504326	73504326	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73504326C>T	ENST00000321617.3	-	3	721	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CASKIN2_ENST00000581870.1_Silent_p.Q45Q|CASKIN2_ENST00000433559.2_5'UTR	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	45						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCAGCATCCTGGTAGTTCA	0.622													ENSG00000177303																																					0													154.0	133.0	140.0					17																	73504326		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.135G>A	17.37:g.73504326C>T			B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.Q45	ENST00000321617.3	37	c.135	CCDS11723.1	17																																																																																			-	CASKIN2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.622	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	0	0		52	52		0.00		C	NM_020753		73504326	-1	25		47		tier1	no_errors	ENST00000321617	ensembl	human	known	74_37	silent	34.72		SNP	1.000	T	25	47
PKN2	5586	genome.wustl.edu	37	1	89271279	89271279	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:89271279T>A	ENST00000370521.3	+	11	1960	c.1601T>A	c.(1600-1602)tTc>tAc	p.F534Y	PKN2_ENST00000370513.5_Missense_Mutation_p.F486Y|PKN2_ENST00000370505.3_Missense_Mutation_p.F377Y|PKN2_ENST00000544045.1_Missense_Mutation_p.F208Y|PKN2_ENST00000316005.7_Missense_Mutation_p.F534Y	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	534					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCTGGCACCTTCAGCCCTCAA	0.453													ENSG00000065243																																					0													69.0	68.0	68.0					1																	89271279		1960	4157	6117	SO:0001583	missense	0			-	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1601T>A	1.37:g.89271279T>A	ENSP00000359552:p.Phe534Tyr		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.F534Y	ENST00000370521.3	37	c.1601	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741755	0.30865	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	6.02	6.02	0.97574	.	0.000000	0.47455	U	0.000226	T	0.11239	0.0274	N	0.25286	0.73	0.47183	D	0.999348	B;B;B;B	0.17465	0.005;0.001;0.012;0.022	B;B;B;B	0.14578	0.005;0.005;0.007;0.011	T	0.13495	-1.0507	10	0.15952	T	0.53	.	11.5919	0.50951	0.133:0.0:0.0:0.867	.	518;486;534;534	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	Y	534;534;377;486;208	ENSP00000359552:F534Y;ENSP00000317851:F534Y;ENSP00000359536:F377Y;ENSP00000359544:F486Y;ENSP00000439643:F208Y	ENSP00000317851:F534Y	F	+	2	0	PKN2	89043867	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.473000	0.60196	2.306000	0.77630	0.482000	0.46254	TTC	-	PKN2	-	NULL		0.453	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	0	0		56	56		0.00		T	NM_006256		89271279	+1	26		40		tier1	no_errors	ENST00000370521	ensembl	human	known	74_37	missense	39.39		SNP	1.000	A	26	40
AHNAK2	113146	genome.wustl.edu	37	14	105409323	105409323	+	Silent	SNP	G	G	A	rs533157133	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:105409323G>A	ENST00000333244.5	-	7	12584	c.12465C>T	c.(12463-12465)tcC>tcT	p.S4155S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4155						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S4155S(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACATCCACGGACGCCTCCA	0.587													ENSG00000185567																																					2	Substitution - coding silent(2)	lung(2)											232.0	241.0	238.0					14																	105409323		1962	4141	6103	SO:0001819	synonymous_variant	0			-	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12465C>T	14.37:g.105409323G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S4155	ENST00000333244.5	37	c.12465	CCDS45177.1	14																																																																																			-	AHK2	-	NULL		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHK2	HGNC	protein_coding	OTTHUMT00000410300.1	0	0		128	128		0.00		G	NM_138420		105409323	-1	64		54		tier1	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	54.24		SNP	0.000	A	64	54
TTC21A	199223	genome.wustl.edu	37	3	39172547	39172547	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:39172547G>A	ENST00000431162.2	+	19	2678	c.2544G>A	c.(2542-2544)aaG>aaA	p.K848K	TTC21A_ENST00000301819.6_Silent_p.K849K|TTC21A_ENST00000440121.1_Silent_p.K800K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	848										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGGTTTACAAGAGCCATAAAA	0.413													ENSG00000168026																																					0													77.0	72.0	73.0					3																	39172547		1881	4110	5991	SO:0001819	synonymous_variant	0			-	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2544G>A	3.37:g.39172547G>A			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K849	ENST00000431162.2	37	c.2547	CCDS46800.1	3																																																																																			-	TTC21A	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.413	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	0	0		40	40		0.00		G	NM_145755		39172547	+1	16		38		tier1	no_errors	ENST00000301819	ensembl	human	known	74_37	silent	29.63		SNP	0.661	A	16	38
NUP210P1	255330	genome.wustl.edu	37	3	126386106	126386106	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:126386106C>T	ENST00000357061.3	+	0	558					NR_034158.1				nucleoporin 210kDa pseudogene 1																		AACCCTTTCTCCTTTGGCAAT	0.582													ENSG00000198284																																					0																																												0			-	BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126386106C>T				R	SNP	-	NULL	ENST00000357061.3	37	NULL		3																																																																																			-	NUP210P1	-	-		0.582	NUP210P1-002	KNOWN	basic	processed_transcript	NUP210P1	HGNC	pseudogene	OTTHUMT00000356320.1	0	0		63	63		0.00		C	NR_034158		126386106	+1	29		52		tier1	no_errors	ENST00000357061	ensembl	human	known	74_37	rna	35.80		SNP	1.000	T	29	52
GPR98	84059	genome.wustl.edu	37	5	89999575	89999575	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:89999575A>T	ENST00000405460.2	+	35	8345	c.8249A>T	c.(8248-8250)aAt>aTt	p.N2750I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2750	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTAGAACTCAATTTTGCTAAC	0.343													ENSG00000164199																																					0													72.0	70.0	70.0					5																	89999575		1803	4077	5880	SO:0001583	missense	0			-	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8249A>T	5.37:g.89999575A>T	ENSP00000384582:p.Asn2750Ile		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N2750I	ENST00000405460.2	37	c.8249	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.97|12.97	2.096310|2.096310	0.36952|0.36952	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.27557	.|1.66	5.15|5.15	2.74|2.74	0.32292|0.32292	.|.	.|0.179835	.|0.64402	.|D	.|0.000015	T|T	0.28830|0.28830	0.0715|0.0715	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.42556	.|0.76;0.783	.|B;B	.|0.40864	.|0.273;0.342	T|T	0.04103|0.04103	-1.0977|-1.0977	5|10	.|0.87932	.|D	.|0	.|.	7.2552|7.2552	0.26173|0.26173	0.6525:0.275:0.0725:0.0|0.6525:0.275:0.0725:0.0	.|.	.|2750;2750	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	F|I	316|2750	.|ENSP00000384582:N2750I	.|ENSP00000296619:N2750I	I|N	+|+	1|2	0|0	GPR98|GPR98	90035331|90035331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.827000|0.827000	0.27421|0.27421	0.425000|0.425000	0.26087|0.26087	0.528000|0.528000	0.53228|0.53228	ATT|AAT	-	GPR98	-	NULL		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	0	0		101	101		0.00		A	NM_032119		89999575	+1	53		112		tier1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	32.12		SNP	1.000	T	53	112
HMX2	3167	genome.wustl.edu	37	10	124909209	124909209	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:124909209C>T	ENST00000339992.3	+	2	649	c.392C>T	c.(391-393)cCg>cTg	p.P131L		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	131					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TCGCCCTCGCCGGGGTCCGAG	0.701													ENSG00000188816																																					0													7.0	10.0	9.0					10																	124909209		1886	3982	5868	SO:0001583	missense	0			-		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.392C>T	10.37:g.124909209C>T	ENSP00000341108:p.Pro131Leu		B2RNV5	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P131L	ENST00000339992.3	37	c.392	CCDS31305.1	10	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267955	0.40095	.	.	ENSG00000188816	ENST00000339992	D	0.95447	-3.71	4.79	4.79	0.61399	Homeodomain-related (1);	0.309804	0.32518	N	0.005990	D	0.91188	0.7224	L	0.32530	0.975	0.58432	D	0.999993	B	0.18310	0.027	B	0.09377	0.004	D	0.87914	0.2699	10	0.49607	T	0.09	.	11.5045	0.50456	0.0:0.9183:0.0:0.0817	.	131	A2RU54	HMX2_HUMAN	L	131	ENSP00000341108:P131L	ENSP00000341108:P131L	P	+	2	0	HMX2	124899199	0.988000	0.35896	0.996000	0.52242	0.271000	0.26615	4.301000	0.59086	2.475000	0.83589	0.655000	0.94253	CCG	-	HMX2	-	NULL		0.701	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMX2	HGNC	protein_coding	OTTHUMT00000050841.1	0	0		40	40		0.00		C	XM_370580		124909209	+1	40		36		tier1	no_errors	ENST00000339992	ensembl	human	known	74_37	missense	51.95		SNP	0.981	T	40	36
USP26	83844	genome.wustl.edu	37	X	132160344	132160344	+	Silent	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:132160344T>A	ENST00000511190.1	-	6	2374	c.1905A>T	c.(1903-1905)ccA>ccT	p.P635P	USP26_ENST00000370832.1_Silent_p.P635P|USP26_ENST00000406273.1_Silent_p.P635P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	635	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTAGCTCATTTGGTTTAGAAT	0.393													ENSG00000134588																									NSCLC(104;342 1621 36940 47097 52632)												0													94.0	79.0	84.0					X																	132160344		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1905A>T	X.37:g.132160344T>A			B9WRT6|Q5H9H4	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P635	ENST00000511190.1	37	c.1905	CCDS14635.1	X																																																																																			-	USP26	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.393	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	0	0		31	31		0.00		T	NM_031907		132160344	-1	8		23		tier1	no_errors	ENST00000370832	ensembl	human	known	74_37	silent	25.81		SNP	0.000	A	8	23
SLC25A3P1	163742	genome.wustl.edu	37	1	53904604	53904604	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:53904604C>T	ENST00000566100.1	-	0	634									solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1																		GGGAAGAACTCGGCGCTGGCC	0.672													ENSG00000236253																																					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.53904604C>T				R	SNP	-	NULL	ENST00000566100.1	37	NULL		1																																																																																			-	SLC25A3P1	-	-		0.672	SLC25A3P1-002	KNOWN	basic	processed_transcript	SLC25A3P1	HGNC	pseudogene	OTTHUMT00000422839.1	0	0		18	18		0.00		C	NM_178501		53904604	-1	19		37		tier1	no_errors	ENST00000562700	ensembl	human	known	74_37	rna	33.93		SNP	1.000	T	19	37
LTBP4	8425	genome.wustl.edu	37	19	41133182	41133182	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41133182C>T	ENST00000308370.7	+	32	4486	c.4486C>T	c.(4486-4488)Cgc>Tgc	p.R1496C	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.R864C|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1459C|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1429C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1497					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCGGGCACCCGCTGGCCCTA	0.662													ENSG00000090006																																					0													7.0	10.0	9.0					19																	41133182		1943	4082	6025	SO:0001583	missense	0			-	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4486C>T	19.37:g.41133182C>T	ENSP00000311905:p.Arg1496Cys		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R1496C	ENST00000308370.7	37	c.4486		19	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143263	0.37825	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D;D	0.85171	-1.59;-1.95;-1.6;-1.59	5.22	-1.23	0.09465	.	0.214672	0.23457	N	0.047980	T	0.74520	0.3727	.	.	.	0.20196	N	0.999928	D;D;P;D;P;P	0.56968	0.957;0.957;0.853;0.978;0.929;0.929	B;B;B;B;B;B	0.40009	0.316;0.316;0.118;0.165;0.253;0.253	T	0.68930	-0.5279	9	0.52906	T	0.07	.	8.0388	0.30508	0.4697:0.3444:0.186:0.0	.	257;509;717;1429;1497;1459	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	C	1459;864;1496;1429;257	ENSP00000204005:R1459C;ENSP00000441054:R864C;ENSP00000311905:R1496C;ENSP00000380031:R1429C	ENSP00000204005:R1459C	R	+	1	0	LTBP4	45825022	0.012000	0.17670	0.031000	0.17742	0.810000	0.45777	0.372000	0.20467	-0.352000	0.08237	0.655000	0.94253	CGC	-	LTBP4	-	NULL		0.662	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		0	0		33	33		0.00		C	NM_003573		41133182	+1	8		18		tier1	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	30.77		SNP	0.125	T	8	18
RASA4B	100271927	genome.wustl.edu	37	7	102147197	102147197	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:102147197C>T	ENST00000465829.1	-	5	443	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RASA4B_ENST00000306682.6_Missense_Mutation_p.E53K|AC093668.1_ENST00000459585.1_RNA|RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000541662.1_Missense_Mutation_p.E125K			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B	125	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						GGCCACACTTCCAGCCGCAGG	0.706													ENSG00000170667																																					0																																										SO:0001583	missense	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.373G>A	7.37:g.102147197C>T	ENSP00000417895:p.Glu125Lys			Missense_Mutation	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.E125K	ENST00000465829.1	37	c.373		7	.	.	.	.	.	.	.	.	.	.	c	9.552	1.116075	0.20795	.	.	ENSG00000170667	ENST00000541662;ENST00000465829;ENST00000481893;ENST00000306682	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	3.62	3.62	0.41486	C2 calcium/lipid-binding domain, CaLB (2);	0.414107	0.22983	N	0.053281	T	0.59689	0.2212	L	0.29908	0.895	0.37247	D	0.906409	P;P	0.52316	0.952;0.919	P;B	0.46659	0.523;0.324	T	0.60239	-0.7302	10	0.07325	T	0.83	.	14.4255	0.67212	0.0:1.0:0.0:0.0	.	125;125	F5GXT2;C9J798	.;RAS4B_HUMAN	K	125;125;53;53	ENSP00000440982:E125K;ENSP00000417895:E125K;ENSP00000419967:E53K;ENSP00000303968:E53K	ENSP00000303968:E53K	E	-	1	0	RASA4B	101934202	0.929000	0.31497	1.000000	0.80357	0.414000	0.31173	1.501000	0.35693	2.045000	0.60652	0.450000	0.29827	GAA	-	RASA4B	-	superfamily_C2_dom		0.706	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	RASA4B	HGNC	protein_coding	OTTHUMT00000059600.6	0	0		51	51		0.00		C	XM_003118600		102147197	-1	14		53		tier1	no_errors	ENST00000465829	ensembl	human	known	74_37	missense	20.90		SNP	1.000	T	14	53
PRAMENP	649179	genome.wustl.edu	37	22	22348916	22348916	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:22348916G>A	ENST00000337471.4	-	0	2007									PRAME N-terminal-like, pseudogene																		CAGGAGGTCGGAGAGGAACTT	0.483													ENSG00000197549																																					0																																												0			-			22q11.22	2013-09-27	2013-09-27	2013-09-27	ENSG00000197549	ENSG00000197549		"""-"""	34302	pseudogene	pseudogene			"""preferentially expressed antigen in melanoma-like"", ""PRAME family member 24, pseudogene"""	PRAMEL, PRAMEF24P			Standard	XR_425303		Approved	FLJ16327			OTTHUMG00000150836		22.37:g.22348916G>A				R	SNP	-	NULL	ENST00000337471.4	37	NULL		22																																																																																			-	PRAMENP	-	-		0.483	PRAMENP-001	KNOWN	basic|exp_conf	processed_transcript	PRAMENP	HGNC	pseudogene	OTTHUMT00000320276.2	0	0		11	11		0.00		G			22348916	-1	5		6		tier1	no_errors	ENST00000337471	ensembl	human	known	74_37	rna	45.45		SNP	0.002	A	5	6
TOMM7	54543	genome.wustl.edu	37	7	22857043	22857043	+	Intron	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:22857043G>T	ENST00000358435.4	-	2	224				TOMM7_ENST00000372879.4_Missense_Mutation_p.Q93K|TOMM7_ENST00000405021.3_Intron|TOMM7_ENST00000463284.1_Intron	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						ttttttttttggtagagatgg	0.373													ENSG00000196683																																					0																																										SO:0001627	intron_variant	0			-	AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.152+575C>A	7.37:g.22857043G>T			O95939	Missense_Mutation	SNP	pfam_Tom7	p.Q93K	ENST00000358435.4	37	c.277	CCDS5376.1	7	.	.	.	.	.	.	.	.	.	.	G	4.497	0.092189	0.08632	.	.	ENSG00000196683	ENST00000372879	.	.	.	0.795	-0.536	0.11876	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38045	-0.9679	5	0.87932	D	0	.	3.5559	0.07863	0.0:0.0:0.5601:0.4399	.	.	.	.	K	93	.	ENSP00000361970:Q93K	Q	-	1	0	TOMM7	22823568	0.003000	0.15002	0.001000	0.08648	0.019000	0.09904	0.364000	0.20325	-0.204000	0.10235	0.313000	0.20887	CAA	-	TOMM7	-	NULL		0.373	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	HGNC	protein_coding	OTTHUMT00000211623.1	0	0		30	30		0.00		G	NM_019059		22857043	-1	5		31		tier1	no_errors	ENST00000372879	ensembl	human	putative	74_37	missense	13.89		SNP	0.001	T	5	31
PPM1B	5495	genome.wustl.edu	37	2	44395869	44395869	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:44395869G>A	ENST00000282412.4	+	0	0				PPM1B_ENST00000409895.4_5'Flank|PPM1B_ENST00000345249.4_5'Flank|RP11-559M23.1_ENST00000609837.1_RNA|PPM1B_ENST00000409432.3_5'Flank|PPM1B_ENST00000378551.2_5'Flank	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGTGCCGAGGGAGCAGCACGG	0.647													ENSG00000273106																																					0																																										SO:0001631	upstream_gene_variant	0			-	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757		2.37:g.44395869G>A	Exception_encountered		Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	R	SNP	-	NULL	ENST00000282412.4	37	NULL	CCDS1817.1	2																																																																																			-	RP11-559M23.1	-	-		0.647	PPM1B-001	KNOWN	basic|CCDS	protein_coding	ENSG00000273106	Clone_based_vega_gene	protein_coding	OTTHUMT00000250672.1	0	0		14	14		0.00		G	NM_002706		44395869	-1	5		9		tier1	no_errors	ENST00000609837	ensembl	human	known	74_37	rna	35.71		SNP	0.002	A	5	9
OR10P1	121130	genome.wustl.edu	37	12	56030944	56030944	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56030944C>T	ENST00000309675.2	+	1	301	c.269C>T	c.(268-270)cCc>cTc	p.P90L	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCCCGCATCCCCAGGCCATC	0.602													ENSG00000175398																																					0													81.0	71.0	75.0					12																	56030944		2203	4300	6503	SO:0001583	missense	0			-	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.269C>T	12.37:g.56030944C>T	ENSP00000308082:p.Pro90Leu		B9EGY4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P90L	ENST00000309675.2	37	c.269	CCDS31828.1	12	.	.	.	.	.	.	.	.	.	.	C	0.347	-0.947310	0.02304	.	.	ENSG00000175398	ENST00000309675	T	0.00547	6.66	4.28	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.691410	0.12683	N	0.447852	T	0.00300	0.0009	N	0.03608	-0.345	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.46898	-0.9158	10	0.56958	D	0.05	.	3.1326	0.06429	0.1805:0.5456:0.1752:0.0987	.	90	Q8NGE3	O10P1_HUMAN	L	90	ENSP00000308082:P90L	ENSP00000308082:P90L	P	+	2	0	OR10P1	54317211	0.008000	0.16893	0.005000	0.12908	0.001000	0.01503	1.243000	0.32767	0.545000	0.28902	-0.310000	0.09108	CCC	-	OR10P1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.602	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10P1	HGNC	protein_coding	OTTHUMT00000406680.1	0	0		29	29		0.00		C			56030944	+1	13		19		tier1	no_errors	ENST00000309675	ensembl	human	known	74_37	missense	40.62		SNP	0.000	T	13	19
MARCO	8685	genome.wustl.edu	37	2	119750716	119750716	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:119750716C>T	ENST00000327097.4	+	16	1404	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	MARCO_ENST00000541757.1_Silent_p.S345S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	423					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACTCAGTGTCCGTCAGGATTG	0.517													ENSG00000019169																									GBM(8;18 374 7467 11269 32796)												0													115.0	106.0	109.0					2																	119750716		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1269C>T	2.37:g.119750716C>T			B4DW79|Q9Y5S3	Silent	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.S423	ENST00000327097.4	37	c.1269	CCDS2124.1	2																																																																																			-	MARCO	-	superfamily_Srcr_rcpt-rel,prints_SRCR		0.517	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	0	0		86	86		0.00		C	NM_006770		119750716	+1	47		71		tier1	no_errors	ENST00000327097	ensembl	human	known	74_37	silent	39.83		SNP	0.000	T	47	71
DUSP7	1849	genome.wustl.edu	37	3	52088019	52088019	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52088019G>A	ENST00000495880.1	-	2	1072	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	DUSP7_ENST00000296483.6_Missense_Mutation_p.P246S			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	297					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCAGAGATGGGGATCTGCTTG	0.577													ENSG00000164086																																					0													217.0	197.0	204.0					3																	52088019		2203	4300	6503	SO:0001583	missense	0			-	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.889C>T	3.37:g.52088019G>A	ENSP00000417183:p.Pro297Ser		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P246S	ENST00000495880.1	37	c.736	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	G	35	5.419020	0.96092	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.88741	-2.42;-2.42;-2.42	5.84	5.84	0.93424	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93930	0.7213	10	0.87932	D	0	.	19.7465	0.96253	0.0:0.0:1.0:0.0	.	246;297	Q16829-2;Q16829	.;DUS7_HUMAN	S	297;246;230	ENSP00000417183:P297S;ENSP00000296483:P246S;ENSP00000418566:P230S	ENSP00000296483:P246S	P	-	1	0	DUSP7	52063059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.785000	0.99042	2.757000	0.94681	0.643000	0.83706	CCC	-	DUSP7	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Dual-sp_phosphatase_subgr_cat		0.577	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1	0	0		50	50		0.00		G	NM_001947		52088019	-1	15		60		tier1	no_errors	ENST00000296483	ensembl	human	known	74_37	missense	20.00		SNP	1.000	A	15	60
RETNLB	84666	genome.wustl.edu	37	3	108474705	108474705	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:108474705C>T	ENST00000295755.6	-	3	454	c.256G>A	c.(256-258)Gat>Aat	p.D86N	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	86					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGCTGAACATCCCACGAACCA	0.572													ENSG00000163515																																					0													89.0	82.0	84.0					3																	108474705		2203	4300	6503	SO:0001583	missense	0			-	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.256G>A	3.37:g.108474705C>T	ENSP00000295755:p.Asp86Asn		Q14D27	Missense_Mutation	SNP	pfam_Resistin,superfamily_Resistin	p.D86N	ENST00000295755.6	37	c.256	CCDS2953.1	3	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521125	0.44866	.	.	ENSG00000163515	ENST00000295755	T	0.50277	0.75	4.14	2.33	0.28932	.	0.134283	0.33161	N	0.005210	T	0.34454	0.0898	L	0.53249	1.67	0.30044	N	0.812332	P	0.41366	0.747	B	0.32805	0.153	T	0.32375	-0.9909	10	0.44086	T	0.13	-2.7335	7.3981	0.26948	0.0:0.7833:0.0:0.2167	.	86	Q9BQ08	RETNB_HUMAN	N	86	ENSP00000295755:D86N	ENSP00000295755:D86N	D	-	1	0	RETNLB	109957395	0.994000	0.37717	0.089000	0.20774	0.098000	0.18820	1.019000	0.30014	0.395000	0.25257	0.655000	0.94253	GAT	-	RETNLB	-	pfam_Resistin,superfamily_Resistin		0.572	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETNLB	HGNC	protein_coding	OTTHUMT00000355093.1	0	0		40	40		0.00		C			108474705	-1	17		50		tier1	no_errors	ENST00000295755	ensembl	human	known	74_37	missense	25.37		SNP	0.928	T	17	50
RXFP1	59350	genome.wustl.edu	37	4	159568146	159568146	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:159568146C>T	ENST00000307765.5	+	16	1800	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	RXFP1_ENST00000343542.5_Missense_Mutation_p.P469S|RXFP1_ENST00000460056.2_Missense_Mutation_p.P436S|RXFP1_ENST00000448688.2_Missense_Mutation_p.P412S|RXFP1_ENST00000470033.1_Missense_Mutation_p.P484S	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	517					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTGTCTATCCTTTTAGATG	0.358													ENSG00000171509																																					0													126.0	115.0	119.0					4																	159568146		1858	4106	5964	SO:0001583	missense	0			-	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1549C>T	4.37:g.159568146C>T	ENSP00000303248:p.Pro517Ser		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.P517S	ENST00000307765.5	37	c.1549	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.159482	0.94686	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;0.999;0.999;0.993	D	0.86194	0.1614	10	0.72032	D	0.01	.	19.9294	0.97114	0.0:1.0:0.0:0.0	.	528;544;412;469;484;436;387;517	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	S	436;517;412;469;484;387	ENSP00000423306:P436S;ENSP00000303248:P517S;ENSP00000414885:P412S;ENSP00000345889:P469S;ENSP00000420712:P484S	ENSP00000303248:P517S	P	+	1	0	RXFP1	159787596	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	2.701000	0.92244	0.650000	0.86243	CCT	-	RXFP1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.358	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	0	0		44	44		0.00		C	NM_021634		159568146	+1	21		35		tier1	no_errors	ENST00000307765	ensembl	human	known	74_37	missense	36.84		SNP	1.000	T	21	35
BZW1	9689	genome.wustl.edu	37	2	201676618	201676618	+	5'UTR	SNP	C	C	T	rs541832394		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:201676618C>T	ENST00000409600.1	+	0	350				BZW1_ENST00000409226.1_5'Flank|BZW1_ENST00000452790.2_5'Flank|AC007163.6_ENST00000447972.3_RNA	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GGCACCTCTCCCTCCTCCTGG	0.617													ENSG00000230408	C|||	1	0.000199681	0.0	0.0	5008	,	,		12503	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001623	5_prime_UTR_variant	0			-	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.-106C>T	2.37:g.201676618C>T			B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	R	SNP	-	NULL	ENST00000409600.1	37	NULL	CCDS56156.1	2																																																																																			-	AC007163.6	-	-		0.617	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927795	Clone_based_vega_gene	protein_coding	OTTHUMT00000335975.1	0	0		71	71		0.00		C	NM_014670		201676618	-1	29		65		tier1	no_errors	ENST00000447972	ensembl	human	known	74_37	rna	30.85		SNP	0.123	T	29	65
ZNF764	92595	genome.wustl.edu	37	16	30567121	30567121	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30567121G>A	ENST00000252797.2	-	3	701	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZNF764_ENST00000395091.2_Silent_p.D206D|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CCTTGCCGCAGTCAGTGCAGT	0.647													ENSG00000169951																																					0													28.0	28.0	28.0					16																	30567121		2196	4299	6495	SO:0001819	synonymous_variant	0			-	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.621C>T	16.37:g.30567121G>A			A8MZF4|B3KSN2|H9KV99|Q9BWS1	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.D207	ENST00000252797.2	37	c.621	CCDS10683.1	16																																																																																			-	ZNF764	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF764	HGNC	protein_coding	OTTHUMT00000255541.1	0	0		44	44		0.00		G	NM_033410		30567121	-1	13		61		tier1	no_errors	ENST00000252797	ensembl	human	known	74_37	silent	17.57		SNP	0.099	A	13	61
MAST3	23031	genome.wustl.edu	37	19	18257757	18257757	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18257757C>T	ENST00000262811.6	+	25	3142	c.3142C>T	c.(3142-3144)Cgg>Tgg	p.R1048W	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1048							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGGCCCCGCCCGGAAGAATGT	0.667													ENSG00000099308																																					0													20.0	23.0	22.0					19																	18257757		1930	4077	6007	SO:0001583	missense	0			-	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3142C>T	19.37:g.18257757C>T	ENSP00000262811:p.Arg1048Trp		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R1048W	ENST00000262811.6	37	c.3142	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	c	15.60	2.881639	0.51908	.	.	ENSG00000099308	ENST00000262811	T	0.72505	-0.66	4.38	3.35	0.38373	.	0.065055	0.56097	N	0.000021	T	0.82190	0.4983	M	0.86178	2.8	0.43598	D	0.995958	D	0.89917	1.0	D	0.79784	0.993	T	0.81493	-0.0908	10	0.87932	D	0	-22.1802	6.3879	0.21572	0.3036:0.6066:0.0:0.0898	.	1048	O60307	MAST3_HUMAN	W	1048	ENSP00000262811:R1048W	ENSP00000262811:R1048W	R	+	1	2	MAST3	18118757	0.974000	0.33945	0.280000	0.24747	0.681000	0.39784	2.389000	0.44407	0.834000	0.34852	-0.348000	0.07805	CGG	-	MAST3	-	NULL		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	0	0		30	30		0.00		C	XM_038150		18257757	+1	14		22		tier1	no_errors	ENST00000262811	ensembl	human	known	74_37	missense	38.89		SNP	0.732	T	14	22
SLCO1C1	53919	genome.wustl.edu	37	12	20905387	20905387	+	Silent	SNP	C	C	T	rs143276480		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:20905387C>T	ENST00000266509.2	+	15	2432	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P723S|SLCO1C1_ENST00000540354.1_Silent_p.F639F|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.P723S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P605S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	688					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTACAAGATTCCAAAAGGAAA	0.353													ENSG00000139155																																					0													91.0	85.0	87.0					12																	20905387		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.2064C>T	12.37:g.20905387C>T			B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.P723S	ENST00000266509.2	37	c.2167	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	C	2.255	-0.370630	0.05069	.	.	ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102	T;T;T	0.38887	1.11;1.11;1.17	5.44	-0.66	0.11421	.	3.686850	0.00508	N	0.000168	T	0.23926	0.0579	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10613	-1.0622	9	0.15952	T	0.53	.	5.7585	0.18186	0.0:0.4982:0.1274:0.3743	.	605;723	F5GZD6;Q5JPA4	.;.	S	723;723;605	ENSP00000444149:P723S;ENSP00000370964:P723S;ENSP00000444527:P605S	ENSP00000370964:P723S	P	+	1	0	SLCO1C1	20796654	0.002000	0.14202	0.000000	0.03702	0.023000	0.10783	0.080000	0.14802	-0.057000	0.13199	-0.136000	0.14681	CCA	-	SLCO1C1	-	NULL		0.353	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	0	0		29	29		0.00		C	NM_017435		20905387	+1	14		21		tier1	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	40.00		SNP	0.000	T	14	21
SLC24A5	283652	genome.wustl.edu	37	15	48434273	48434273	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:48434273G>A	ENST00000341459.3	+	9	1301	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	SLC24A5_ENST00000449382.2_Missense_Mutation_p.D350N|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	410					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CAATGTGTTTGATATGTTGTG	0.358													ENSG00000188467																																					0													299.0	305.0	303.0					15																	48434273		2198	4297	6495	SO:0001583	missense	0			-	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1228G>A	15.37:g.48434273G>A	ENSP00000341550:p.Asp410Asn		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.D410N	ENST00000341459.3	37	c.1228	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663429	0.88251	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.54866	0.55;0.55	5.87	5.87	0.94306	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	L	0.28694	0.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.51172	-0.8739	10	0.16420	T	0.52	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	350;410	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	N	410;350	ENSP00000341550:D410N;ENSP00000389966:D350N	ENSP00000341550:D410N	D	+	1	0	SLC24A5	46221565	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.283000	0.95860	2.941000	0.99782	0.655000	0.94253	GAT	-	SLC24A5	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger		0.358	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	0	0		27	27		0.00		G	NM_205850		48434273	+1	17		17		tier1	no_errors	ENST00000341459	ensembl	human	known	74_37	missense	50.00		SNP	1.000	A	17	17
TMPRSS6	164656	genome.wustl.edu	37	22	37466603	37466603	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:37466603G>A	ENST00000346753.3	-	15	1905	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R588W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R588W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R588W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	597	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGTCGACCCCGAACCTGGAGG	0.672													ENSG00000187045																																					0													45.0	47.0	47.0					22																	37466603		2203	4300	6503	SO:0001583	missense	0			-	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1789C>T	22.37:g.37466603G>A	ENSP00000334962:p.Arg597Trp		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.R588W	ENST00000346753.3	37	c.1762	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227525	0.79576	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.44	3.08	0.35506	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.286466	0.29389	N	0.012282	D	0.95452	0.8523	L	0.58669	1.825	0.41315	D	0.987133	D;D	0.89917	1.0;1.0	D;D	0.74674	0.967;0.984	D	0.95969	0.8968	10	0.72032	D	0.01	.	15.6195	0.76796	0.0:0.0:0.7383:0.2616	.	588;597	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	W	588;597;588;588	ENSP00000371211:R588W;ENSP00000334962:R597W;ENSP00000385453:R588W;ENSP00000384964:R588W	ENSP00000334962:R597W	R	-	1	2	TMPRSS6	35796549	0.993000	0.37304	0.913000	0.36048	0.995000	0.86356	3.960000	0.56752	1.241000	0.43820	0.591000	0.81541	CGG	-	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.672	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	0	0		40	40		0.00		G	NM_153609		37466603	-1	13		27		tier1	no_errors	ENST00000381792	ensembl	human	known	74_37	missense	32.50		SNP	0.729	A	13	27
XKR5	389610	genome.wustl.edu	37	8	6669734	6669734	+	RNA	SNP	C	C	T	rs377530749		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:6669734C>T	ENST00000518724.1	-	0	1197							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ATCTGTGGCCCGGGGAGAATC	0.542													ENSG00000186530																																					0								C	GLN/ARG	2,3578		0,2,1788	34.0	34.0	34.0		1047	-6.9	0.0	8		34	0,7806		0,0,3903	no	missense	XKR5	NM_207411.4	43	0,2,5691	TT,TC,CC		0.0,0.0559,0.0176		349/687	6669734	2,11384	1790	3903	5693			0			-	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669734C>T			Q5GH74	R	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			-	XKR5	-	-		0.542	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	0	0		82	82		0.00		C	NM_207411		6669734	-1	16		47		tier1	no_errors	ENST00000405979	ensembl	human	known	74_37	rna	25.40		SNP	0.000	T	16	47
GPR32	2854	genome.wustl.edu	37	19	51274790	51274790	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51274790C>T	ENST00000270590.4	+	1	1070	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	311					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACAGCAGCCTCAACCCCTTCC	0.542													ENSG00000142511																									Esophageal Squamous(113;152 1581 5732 15840 44398)												0													84.0	82.0	83.0					19																	51274790		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.933C>T	19.37:g.51274790C>T			Q502U7|Q6NWS5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.L311	ENST00000270590.4	37	c.933	CCDS12801.1	19																																																																																			-	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.542	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	0	0		57	57		0.00		C			51274790	+1	12		57		tier1	no_errors	ENST00000270590	ensembl	human	known	74_37	silent	17.14		SNP	1.000	T	12	57
AMPD1	270	genome.wustl.edu	37	1	115218600	115218600	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:115218600G>C	ENST00000520113.2	-	11	1527	c.1512C>G	c.(1510-1512)ttC>ttG	p.F504L	AMPD1_ENST00000369538.3_Missense_Mutation_p.F500L|AMPD1_ENST00000353928.6_Missense_Mutation_p.F471L			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	504					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AATGTGGAAGGAAATTCTTGG	0.438													ENSG00000116748																																					0													102.0	108.0	106.0					1																	115218600		2203	4300	6503	SO:0001583	missense	0			-	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1512C>G	1.37:g.115218600G>C	ENSP00000430075:p.Phe504Leu		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.F504L	ENST00000520113.2	37	c.1512	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	G	4.693	0.128842	0.08981	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.81908	-1.55;-1.55;-1.55	5.58	4.67	0.58626	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	N	0.00569	-1.365	0.58432	D	0.999997	D;B	0.76494	0.999;0.004	D;B	0.81914	0.995;0.01	T	0.66416	-0.5929	10	0.02654	T	1	-18.7227	8.8231	0.35039	0.2242:0.0:0.7758:0.0	.	500;471	Q5TF02;P23109	.;AMPD1_HUMAN	L	504;500;471	ENSP00000430075:F504L;ENSP00000358551:F500L;ENSP00000316520:F471L	ENSP00000316520:F471L	F	-	3	2	AMPD1	115020123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.708000	0.37899	1.355000	0.45865	0.561000	0.74099	TTC	-	AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.438	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	0	0		98	98		0.00		G			115218600	-1	20		96		tier1	no_errors	ENST00000520113	ensembl	human	known	74_37	missense	17.24		SNP	1.000	C	20	96
SNRPB2	6629	genome.wustl.edu	37	20	16721501	16721501	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:16721501T>C	ENST00000246071.6	+	7	745	c.529T>C	c.(529-531)Ttc>Ctc	p.F177L	SNRPB2_ENST00000377943.5_Missense_Mutation_p.F177L	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	177	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						GTTCCCTGGCTTCAAGGAAGT	0.393													ENSG00000125870																																					0													103.0	94.0	97.0					20																	16721501		2203	4300	6503	SO:0001583	missense	0			-		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.529T>C	20.37:g.16721501T>C	ENSP00000246071:p.Phe177Leu		B2R7J3|D3DW21|Q9UJD4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F177L	ENST00000246071.6	37	c.529	CCDS13123.1	20	.	.	.	.	.	.	.	.	.	.	T	23.7	4.446728	0.84101	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	T;T	0.15603	2.41;2.41	6.08	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.041245	0.85682	D	0.000000	T	0.14700	0.0355	N	0.05592	-0.015	0.80722	D	1	P	0.41131	0.739	P	0.48873	0.593	T	0.15378	-1.0439	10	0.41790	T	0.15	-11.2439	12.5561	0.56254	0.1248:0.0:0.0:0.8752	.	177	P08579	RU2B_HUMAN	L	177	ENSP00000367178:F177L;ENSP00000246071:F177L	ENSP00000246071:F177L	F	+	1	0	SNRPB2	16669501	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	7.649000	0.83500	1.082000	0.41137	0.533000	0.62120	TTC	-	SNRPB2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.393	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPB2	HGNC	protein_coding	OTTHUMT00000078110.1	0	0		27	27		0.00		T	NM_003092		16721501	+1	22		19		tier1	no_errors	ENST00000246071	ensembl	human	known	74_37	missense	53.66		SNP	1.000	C	22	19
TSKS	60385	genome.wustl.edu	37	19	50251659	50251659	+	Missense_Mutation	SNP	C	C	A	rs146698044		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50251659C>A	ENST00000246801.3	-	3	549	c.467G>T	c.(466-468)cGg>cTg	p.R156L	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	156					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTGGTTAACCCGGTTGGTCTT	0.567													ENSG00000126467																																					0													124.0	101.0	109.0					19																	50251659		2203	4300	6503	SO:0001583	missense	0			-	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.467G>T	19.37:g.50251659C>A	ENSP00000246801:p.Arg156Leu		Q8WXJ0	Missense_Mutation	SNP	NULL	p.R156L	ENST00000246801.3	37	c.467	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837459	0.50951	.	.	ENSG00000126467	ENST00000246801	T	0.36699	1.24	4.85	4.85	0.62838	.	0.000000	0.49305	D	0.000154	T	0.41696	0.1170	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	T	0.26849	-1.0091	10	0.59425	D	0.04	-30.3731	8.9987	0.36068	0.0:0.9014:0.0:0.0986	.	156	Q9UJT2	TSKS_HUMAN	L	156	ENSP00000246801:R156L	ENSP00000246801:R156L	R	-	2	0	TSKS	54943471	0.995000	0.38212	0.997000	0.53966	0.930000	0.56654	1.638000	0.37165	2.525000	0.85131	0.462000	0.41574	CGG	-	TSKS	-	NULL		0.567	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	0	0		52	52		0.00		C	NM_021733		50251659	-1	16		54		tier1	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	22.86		SNP	0.999	A	16	54
TUBA1B	10376	genome.wustl.edu	37	12	49524995	49524995	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:49524995C>T	ENST00000336023.5	-	1	98				Y_RNA_ENST00000363439.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b						'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CCAGCCCTTCCCGGCTGTATA	0.662													ENSG00000258017																																					0													8.0	10.0	10.0					12																	49524995		689	1585	2274	SO:0001627	intron_variant	0			-	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.3+85G>A	12.37:g.49524995C>T			P04687|P05209|Q27I68|Q8WU19	R	SNP	-	NULL	ENST00000336023.5	37	NULL	CCDS31792.1	12																																																																																			-	RP11-386G11.10	-	-		0.662	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258017	Clone_based_vega_gene	protein_coding	OTTHUMT00000409005.1	0	0		101	101		0.00		C	NM_006082		49524995	+1	26		62		tier1	no_errors	ENST00000547712	ensembl	human	known	74_37	rna	29.55		SNP	0.002	T	26	62
MAPK15	225689	genome.wustl.edu	37	8	144803783	144803783	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144803783C>T	ENST00000338033.4	+	12	1388	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	423					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAACTGCTCTCCTAGGGAATG	0.662													ENSG00000181085																																					0													79.0	91.0	87.0					8																	144803783		1912	4124	6036	SO:0001819	synonymous_variant	0			-	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1269C>T	8.37:g.144803783C>T			Q2TCF9|Q8N362	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.L423	ENST00000338033.4	37	c.1269	CCDS6409.2	8																																																																																			-	MAPK15	-	NULL		0.662	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1	0	0		58	58		0.00		C	NM_139021		144803783	+1	19		49		tier1	no_errors	ENST00000338033	ensembl	human	known	74_37	silent	27.94		SNP	0.006	T	19	49
ORAI3	93129	genome.wustl.edu	37	16	30964794	30964794	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30964794A>G	ENST00000318663.4	+	2	741	c.517A>G	c.(517-519)Aag>Gag	p.K173E	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Missense_Mutation_p.K173E	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	173					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						TGGTTGGGTCAAGTTTGTGCC	0.622											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000175938																																					0													146.0	165.0	159.0					16																	30964794		2197	4300	6497	SO:0001583	missense	0			-	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.517A>G	16.37:g.30964794A>G	ENSP00000322249:p.Lys173Glu	821	Q96BI8	Missense_Mutation	SNP	pfam_CRAC_channel	p.K173E	ENST00000318663.4	37	c.517	CCDS10697.1	16	.	.	.	.	.	.	.	.	.	.	A	29.3	4.997239	0.93167	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.55052	0.54	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000014	T	0.71517	0.3349	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75113	-0.3432	10	0.87932	D	0	-12.0845	14.751	0.69525	1.0:0.0:0.0:0.0	.	173	Q9BRQ5	ORAI3_HUMAN	E	173	ENSP00000322249:K173E	ENSP00000322249:K173E	K	+	1	0	ORAI3	30872295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.133000	0.65898	0.528000	0.53228	AAG	-	ORAI3	-	pfam_CRAC_channel		0.622	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	HGNC	protein_coding	OTTHUMT00000255545.20	0	0		53	53		0.00		A	NM_152288		30964794	+1	28		53		tier1	no_errors	ENST00000318663	ensembl	human	known	74_37	missense	34.57		SNP	1.000	G	28	53
CCDC108	255101	genome.wustl.edu	37	2	219870876	219870876	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219870876C>T	ENST00000341552.5	-	31	4872	c.4789G>A	c.(4789-4791)Gag>Aag	p.E1597K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1597K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1597K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1597						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACACCTCCTCCTTTGGGGTC	0.617													ENSG00000181378																																					0													56.0	64.0	61.0					2																	219870876		2203	4300	6503	SO:0001583	missense	0			-	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4789G>A	2.37:g.219870876C>T	ENSP00000340776:p.Glu1597Lys		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.E1597K	ENST00000341552.5	37	c.4789	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	6.102	0.387068	0.11581	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05199	3.48;3.48;3.48	5.56	1.12	0.20585	.	0.961899	0.08528	N	0.932527	T	0.03220	0.0094	N	0.05554	-0.025	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.46965	-0.9153	10	0.09338	T	0.73	-12.6985	8.3464	0.32275	0.0:0.5895:0.0:0.4105	.	1597	Q6ZU64	CC108_HUMAN	K	1597	ENSP00000340776:E1597K;ENSP00000413377:E1597K;ENSP00000409117:E1597K	ENSP00000340776:E1597K	E	-	1	0	CCDC108	219579120	0.001000	0.12720	0.400000	0.26346	0.078000	0.17371	0.197000	0.17197	0.293000	0.22520	0.655000	0.94253	GAG	-	CCDC108	-	NULL		0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	0	0		31	31		0.00		C	NM_194302		219870876	-1	20		42		tier1	no_errors	ENST00000341552	ensembl	human	known	74_37	missense	32.26		SNP	0.004	T	20	42
TNPO1	3842	genome.wustl.edu	37	5	72185734	72185734	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:72185734G>A	ENST00000337273.5	+	14	2077	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	TNPO1_ENST00000523768.1_Missense_Mutation_p.D501N|TNPO1_ENST00000454282.1_Missense_Mutation_p.D501N|TNPO1_ENST00000506351.2_Missense_Mutation_p.D543N	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	551					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CATTCTTTACGATGCCATAGG	0.363													ENSG00000083312																																					0													109.0	103.0	105.0					5																	72185734		2203	4300	6503	SO:0001583	missense	0			-	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1651G>A	5.37:g.72185734G>A	ENSP00000336712:p.Asp551Asn		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.D551N	ENST00000337273.5	37	c.1651	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.313208	0.95655	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	H	0.96633	3.855	0.80722	D	1	D;P	0.54601	0.967;0.931	P;P	0.59288	0.855;0.574	D	0.91089	0.4905	10	0.66056	D	0.02	-7.7143	19.0553	0.93062	0.0:0.0:1.0:0.0	.	501;551	Q92973-3;Q92973	.;TNPO1_HUMAN	N	551;501;501;543;62	ENSP00000336712:D551N;ENSP00000398524:D501N;ENSP00000428899:D501N;ENSP00000425118:D543N	ENSP00000336712:D551N	D	+	1	0	TNPO1	72221490	1.000000	0.71417	0.979000	0.43373	0.980000	0.70556	9.415000	0.97375	2.588000	0.87417	0.650000	0.86243	GAT	-	TNPO1	-	superfamily_ARM-type_fold		0.363	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	0	0		49	49		0.00		G	NM_002270		72185734	+1	15		32		tier1	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	31.91		SNP	1.000	A	15	32
TNIK	23043	genome.wustl.edu	37	3	170875363	170875363	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:170875363C>T	ENST00000436636.2	-	12	1451	c.1107G>A	c.(1105-1107)cgG>cgA	p.R369R	TNIK_ENST00000538048.1_Silent_p.R369R|TNIK_ENST00000357327.5_Silent_p.R369R|TNIK_ENST00000475336.1_Silent_p.R369R|TNIK_ENST00000284483.8_Silent_p.R369R|TNIK_ENST00000470834.1_Silent_p.R369R|TNIK_ENST00000369326.5_Silent_p.R369R|TNIK_ENST00000460047.1_Silent_p.R369R|TNIK_ENST00000488470.1_Silent_p.R369R|TNIK_ENST00000341852.6_Silent_p.R369R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	369	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			gctgctgcCTCCGTAGGGCCT	0.632													ENSG00000154310																																					0													12.0	15.0	14.0					3																	170875363		2122	4231	6353	SO:0001819	synonymous_variant	0			-	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1107G>A	3.37:g.170875363C>T			A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.R369	ENST00000436636.2	37	c.1107	CCDS46956.1	3																																																																																			-	TNIK	-	NULL		0.632	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	0	0		53	53		0.00		C	XM_039796		170875363	-1	34		44		tier1	no_errors	ENST00000436636	ensembl	human	known	74_37	silent	43.04		SNP	0.997	T	34	44
BPIFB1	92747	genome.wustl.edu	37	20	31877727	31877727	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31877727G>A	ENST00000253354.1	+	4	455	c.294G>A	c.(292-294)caG>caA	p.Q98Q		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	98					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TCCAGCTGCAGGTGAAGCCCT	0.537													ENSG00000125999																																					0													140.0	116.0	124.0					20																	31877727		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.294G>A	20.37:g.31877727G>A			A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	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,pirsf_PLUNC_long_form	p.Q98	ENST00000253354.1	37	c.294	CCDS13218.1	20																																																																																			-	BPIFB1	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form		0.537	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	HGNC	protein_coding	OTTHUMT00000106499.2	0	0		39	39		0.00		G	NM_033197		31877727	+1	33		45		tier1	no_errors	ENST00000253354	ensembl	human	known	74_37	silent	42.31		SNP	0.000	A	33	45
SLC12A5	57468	genome.wustl.edu	37	20	44671893	44671893	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:44671893C>T	ENST00000454036.2	+	9	1286	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SLC12A5_ENST00000243964.3_Missense_Mutation_p.P390S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	413					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)	CATGGACCACCCTTATGTCTT	0.567													ENSG00000124140																																					0													304.0	256.0	273.0					20																	44671893		2203	4300	6503	SO:0001583	missense	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.1237C>T	20.37:g.44671893C>T	ENSP00000387694:p.Pro413Ser		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P413S	ENST00000454036.2	37	c.1237	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658232	0.47467	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84298	-1.83;-1.82	4.47	4.47	0.54385	.	0.068216	0.64402	D	0.000008	T	0.75095	0.3803	N	0.17674	0.51	0.80722	D	1	B;B	0.17465	0.022;0.017	B;B	0.22152	0.038;0.022	T	0.68992	-0.5263	10	0.11794	T	0.64	.	16.6495	0.85185	0.0:1.0:0.0:0.0	.	413;390	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	S	413;390	ENSP00000387694:P413S;ENSP00000243964:P390S	ENSP00000243964:P390S	P	+	1	0	SLC12A5	44105300	1.000000	0.71417	0.997000	0.53966	0.816000	0.46133	5.379000	0.66196	2.470000	0.83445	0.462000	0.41574	CCT	-	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	0	0		40	40		0.00		C			44671893	+1	7		28		tier1	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	20.00		SNP	1.000	T	7	28
APOB	338	genome.wustl.edu	37	2	21245744	21245744	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:21245744G>A	ENST00000233242.1	-	18	2902	c.2775C>T	c.(2773-2775)atC>atT	p.I925I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	925	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAAGGAATGATAAACTTCA	0.502													ENSG00000084674																																					0													71.0	63.0	66.0					2																	21245744		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2775C>T	2.37:g.21245744G>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.I925	ENST00000233242.1	37	c.2775	CCDS1703.1	2																																																																																			-	APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	0	0		61	61		0.00		G			21245744	-1	13		89		tier1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	12.75		SNP	0.096	A	13	89
SNED1	25992	genome.wustl.edu	37	2	242026692	242026692	+	Intron	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:242026692G>T	ENST00000310397.8	+	30	4121				SNED1_ENST00000405547.3_Intron|SNED1_ENST00000342631.6_Intron|MTERFD2_ENST00000464344.2_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCAGAAAATAGCAGTTTTTCC	0.353													ENSG00000122085																																					0																																										SO:0001627	intron_variant	0			-	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4122-115G>T	2.37:g.242026692G>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	R	SNP	-	NULL	ENST00000310397.8	37	NULL	CCDS46562.1	2																																																																																			-	MTERFD2	-	-		0.353	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323935.2	0	0		55	55		0.00		G	XM_059482		242026692	-1	4		38		tier1	no_errors	ENST00000455202	ensembl	human	known	74_37	rna	9.52		SNP	0.000	T	4	38
CRNKL1	51340	genome.wustl.edu	37	20	20026105	20026105	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:20026105C>T	ENST00000377340.2	-	7	1162	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	CRNKL1_ENST00000536226.1_Silent_p.K216K|CRNKL1_ENST00000377327.4_Silent_p.K365K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	377					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						TGATCCAGTTCTTAACATCAG	0.408													ENSG00000101343																																					0													138.0	133.0	135.0					20																	20026105		2203	4300	6503	SO:0001819	synonymous_variant	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.1131G>A	20.37:g.20026105C>T			A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.K377	ENST00000377340.2	37	c.1131	CCDS33446.1	20																																																																																			-	CRNKL1	-	pfam_HAT,smart_HAT		0.408	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	0	0		81	81		0.00		C			20026105	-1	48		69		tier1	no_errors	ENST00000377340	ensembl	human	known	74_37	silent	40.68		SNP	1.000	T	48	69
MURC	347273	genome.wustl.edu	37	9	103348406	103348406	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:103348406G>A	ENST00000307584.5	+	2	833	c.768G>A	c.(766-768)aaG>aaA	p.K256K		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	256					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AGAGGTTTAAGAAATCTATTT	0.517													ENSG00000170681																																					0													92.0	100.0	97.0					9																	103348406		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.768G>A	9.37:g.103348406G>A			B1PRL3|B4DT88	Silent	SNP	NULL	p.K256	ENST00000307584.5	37	c.768	CCDS35083.1	9																																																																																			-	MURC	-	NULL		0.517	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	HGNC	protein_coding	OTTHUMT00000053419.2	0	0		58	58		0.00		G	NM_001018116		103348406	+1	35		72		tier1	no_errors	ENST00000307584	ensembl	human	known	74_37	silent	32.41		SNP	1.000	A	35	72
MBNL1	4154	genome.wustl.edu	37	3	152018007	152018007	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:152018007C>T	ENST00000463374.1	+	1	536	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	MBNL1_ENST00000324196.5_Missense_Mutation_p.R9W|MBNL1_ENST00000492948.1_Missense_Mutation_p.R9W|MBNL1_ENST00000485910.1_Missense_Mutation_p.R9W|MBNL1_ENST00000282488.7_Missense_Mutation_p.R9W|MBNL1_ENST00000485509.1_Missense_Mutation_p.R9W|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000357472.3_Missense_Mutation_p.R9W|MBNL1_ENST00000324210.5_Missense_Mutation_p.R9W|MBNL1_ENST00000282486.6_Missense_Mutation_p.R9W|MBNL1_ENST00000355460.2_Missense_Mutation_p.R9W|MBNL1_ENST00000498502.1_Missense_Mutation_p.R9W|MBNL1_ENST00000545754.1_Missense_Mutation_p.R9W|MBNL1_ENST00000461436.1_3'UTR	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	9					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R9W(6)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACACCAATTCGGGACACAAA	0.438													ENSG00000152601																																					6	Substitution - Missense(6)	urinary_tract(3)|endometrium(3)											86.0	79.0	82.0					3																	152018007		2203	4300	6503	SO:0001583	missense	0			-	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.25C>T	3.37:g.152018007C>T	ENSP00000418108:p.Arg9Trp		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	smart_Znf_CCCH	p.R9W	ENST00000463374.1	37	c.25	CCDS3165.1	3	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172794	0.38413	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.87269	2.87	0.80722	D	1	D;B;B;B;D;D;D	0.89917	1.0;0.006;0.014;0.094;1.0;1.0;1.0	D;B;B;B;D;D;D	0.97110	0.997;0.001;0.002;0.111;1.0;1.0;1.0	D	0.85683	0.1302	10	0.87932	D	0	.	19.297	0.94126	0.0:1.0:0.0:0.0	.	9;9;9;9;9;9;9	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q9NR56-2;Q96P92	.;.;.;MBNL1_HUMAN;.;.;.	W	9	ENSP00000282486:R9W;ENSP00000282488:R9W;ENSP00000347637:R9W;ENSP00000319429:R9W;ENSP00000420327:R9W;ENSP00000319374:R9W;ENSP00000437491:R9W;ENSP00000350064:R9W;ENSP00000418427:R9W;ENSP00000418108:R9W;ENSP00000417630:R9W;ENSP00000420103:R9W;ENSP00000418876:R9W	ENSP00000282486:R9W	R	+	1	2	MBNL1	153500697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.716000	0.61916	2.561000	0.86390	0.586000	0.80456	CGG	-	MBNL1	-	NULL		0.438	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	0	0		105	105		0.00		C	NM_021038		152018007	+1	49		92		tier1	no_errors	ENST00000282486	ensembl	human	known	74_37	missense	34.75		SNP	1.000	T	49	92
ZNF347	84671	genome.wustl.edu	37	19	53644726	53644726	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:53644726G>A	ENST00000334197.7	-	5	1423	c.1355C>T	c.(1354-1356)aCc>aTc	p.T452I	ZNF347_ENST00000452676.2_Missense_Mutation_p.T453I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.T453I	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTTTTCTCCGGTGTGAATTAC	0.438													ENSG00000197937																									Melanoma(64;205 1597 17324 45721)												0													141.0	140.0	140.0					19																	53644726		2203	4300	6503	SO:0001583	missense	0			-	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1355C>T	19.37:g.53644726G>A	ENSP00000334146:p.Thr452Ile		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T453I	ENST00000334197.7	37	c.1358	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504755	0.44558	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.25749	1.78;1.78	2.43	1.34	0.21922	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46328	0.1387	M	0.80847	2.515	0.25074	N	0.99098	D;P	0.89917	1.0;0.956	D;P	0.87578	0.998;0.606	T	0.22730	-1.0208	9	0.66056	D	0.02	.	4.1555	0.10258	0.1355:0.0:0.638:0.2265	.	453;452	G5E9N4;Q96SE7	.;ZN347_HUMAN	I	452;453	ENSP00000334146:T452I;ENSP00000405218:T453I	ENSP00000334146:T452I	T	-	2	0	ZNF347	58336538	0.665000	0.27466	0.027000	0.17364	0.004000	0.04260	1.339000	0.33885	0.375000	0.24679	0.655000	0.94253	ACC	-	ZNF347	-	pfscan_Znf_C2H2		0.438	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	0	0		70	70		0.00		G	NM_032584		53644726	-1	22		80		tier1	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	21.57		SNP	0.986	A	22	80
TAS2R39	259285	genome.wustl.edu	37	7	142880796	142880796	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:142880796C>T	ENST00000446620.1	+	1	285	c.285C>T	c.(283-285)acC>acT	p.T95T		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	95					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TAGAAATTACCATCAGCTCAA	0.373													ENSG00000236398																																					0													114.0	106.0	109.0					7																	142880796		1844	4101	5945	SO:0001819	synonymous_variant	0			-	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.285C>T	7.37:g.142880796C>T			A4FUI7|Q3ZCN6|Q645W4	Silent	SNP	pfam_TAS2_rcpt	p.T95	ENST00000446620.1	37	c.285	CCDS47729.1	7																																																																																			-	TAS2R39	-	pfam_TAS2_rcpt		0.373	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R39	HGNC	protein_coding	OTTHUMT00000327090.2	0	0		42	42		0.00		C	NM_176881		142880796	+1	22		37		tier1	no_errors	ENST00000446620	ensembl	human	known	74_37	silent	37.29		SNP	0.000	T	22	37
PELI3	246330	genome.wustl.edu	37	11	66243577	66243577	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:66243577G>A	ENST00000320740.7	+	8	1509	c.1349G>A	c.(1348-1350)gGg>gAg	p.G450E	CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.G426E	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	450					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CCCTTTTGCGGGGCCTGGCTT	0.682													ENSG00000174516																																					0													12.0	11.0	12.0					11																	66243577		2180	4261	6441	SO:0001583	missense	0			-	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1349G>A	11.37:g.66243577G>A	ENSP00000322532:p.Gly450Glu		Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	pfam_Pellino_fam	p.G450E	ENST00000320740.7	37	c.1349	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790441	0.50102	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.41400	1.0;1.0	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	N	0.22421	0.69	0.80722	D	1	P;P	0.47191	0.696;0.891	B;P	0.52424	0.358;0.698	T	0.33954	-0.9848	10	0.87932	D	0	-21.7464	10.7072	0.45962	0.0:0.1933:0.8067:0.0	.	426;450	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	E	426;450	ENSP00000309848:G426E;ENSP00000322532:G450E	ENSP00000322532:G450E	G	+	2	0	PELI3	66000153	0.684000	0.27642	1.000000	0.80357	0.975000	0.68041	0.890000	0.28295	2.368000	0.80403	0.655000	0.94253	GGG	-	PELI3	-	pfam_Pellino_fam		0.682	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	0	0		22	22		0.00		G	NM_145065		66243577	+1	11		14		tier1	no_errors	ENST00000320740	ensembl	human	known	74_37	missense	42.31		SNP	0.998	A	11	14
HECW2	57520	genome.wustl.edu	37	2	197183519	197183519	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:197183519C>T	ENST00000260983.3	-	9	2277	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	HECW2_ENST00000409111.1_Missense_Mutation_p.E343K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	699					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CACACGGATTCCTGCGACCCT	0.612													ENSG00000138411																																					0													34.0	36.0	36.0					2																	197183519		2203	4300	6503	SO:0001583	missense	0			-	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2095G>A	2.37:g.197183519C>T	ENSP00000260983:p.Glu699Lys		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E699K	ENST00000260983.3	37	c.2095	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576988	0.28092	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.29917	1.56;1.55	4.82	4.82	0.62117	.	2.823480	0.01157	N	0.006545	T	0.26268	0.0641	N	0.14661	0.345	0.29249	N	0.872136	B	0.14438	0.01	B	0.14023	0.01	T	0.11131	-1.0600	10	0.45353	T	0.12	.	13.1088	0.59261	0.1601:0.8399:0.0:0.0	.	699	Q9P2P5	HECW2_HUMAN	K	343;699	ENSP00000386775:E343K;ENSP00000260983:E699K	ENSP00000260983:E699K	E	-	1	0	HECW2	196891764	1.000000	0.71417	0.614000	0.29051	0.064000	0.16182	5.777000	0.68931	2.509000	0.84616	0.561000	0.74099	GAA	-	HECW2	-	NULL		0.612	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	0	0		68	68		0.00		C	NM_020760		197183519	-1	22		29		tier1	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	43.14		SNP	0.999	T	22	29
AGPAT6	137964	genome.wustl.edu	37	8	41467192	41467192	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41467192C>T	ENST00000396987.3	+	4	1181	c.254C>T	c.(253-255)cCc>cTc	p.P85L	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	85					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|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)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GCAAAGGATCCCACTTCACTA	0.468													ENSG00000158669																																					0													105.0	103.0	104.0					8																	41467192		2203	4300	6503	SO:0001583	missense	0			-	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.254C>T	8.37:g.41467192C>T	ENSP00000380184:p.Pro85Leu		Q86V89	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.P85L	ENST00000396987.3	37	c.254	CCDS6117.1	8	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298815	0.40694	.	.	ENSG00000158669	ENST00000396987;ENST00000519853	T	0.42900	0.96	4.93	4.93	0.64822	.	0.254542	0.45867	D	0.000322	T	0.39358	0.1075	L	0.58101	1.795	0.52099	D	0.999945	B	0.06786	0.001	B	0.06405	0.002	T	0.15093	-1.0449	10	0.30854	T	0.27	.	13.4138	0.60958	0.0:0.8426:0.1574:0.0	.	85	Q86UL3	GPAT4_HUMAN	L	85;39	ENSP00000380184:P85L	ENSP00000380184:P85L	P	+	2	0	AGPAT6	41586349	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.315000	0.43752	2.714000	0.92807	0.563000	0.77884	CCC	-	AGPAT6	-	NULL		0.468	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT6	HGNC	protein_coding	OTTHUMT00000377158.1	0	0		41	41		0.00		C	NM_178819		41467192	+1	26		42		tier1	no_errors	ENST00000396987	ensembl	human	known	74_37	missense	38.24		SNP	1.000	T	26	42
TMEM132B	114795	genome.wustl.edu	37	12	126128661	126128661	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:126128661G>A	ENST00000299308.3	+	6	1470	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	488						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAATGGGAAGGAAATGAAGAG	0.483													ENSG00000139364																																					0													98.0	96.0	96.0					12																	126128661		1993	4164	6157	SO:0001583	missense	0			-	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1462G>A	12.37:g.126128661G>A	ENSP00000299308:p.Glu488Lys		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.E488K	ENST00000299308.3	37	c.1462	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421579	0.62622	.	.	ENSG00000139364	ENST00000299308	T	0.17854	2.25	5.52	4.62	0.57501	.	0.000000	0.53938	U	0.000048	T	0.45296	0.1335	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52426	-0.8577	10	0.87932	D	0	.	15.7031	0.77558	0.0:0.0:0.862:0.138	.	488	Q14DG7	T132B_HUMAN	K	488	ENSP00000299308:E488K	ENSP00000299308:E488K	E	+	1	0	TMEM132B	124694614	1.000000	0.71417	0.987000	0.45799	0.037000	0.13140	9.449000	0.97603	1.296000	0.44742	-0.182000	0.12963	GAA	-	TMEM132B	-	NULL		0.483	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	0	0		99	99		0.00		G	NM_052907		126128661	+1	53		72		tier1	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	42.40		SNP	1.000	A	53	72
UGDH	7358	genome.wustl.edu	37	4	39515778	39515778	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:39515778G>A	ENST00000316423.6	-	3	531	c.189C>T	c.(187-189)tcC>tcT	p.S63S	UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Silent_p.S63S|UGDH_ENST00000501493.2_Silent_p.S63S|UGDH_ENST00000507089.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	63					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TTCCTCGACAGGATTCTACCA	0.308													ENSG00000109814																																					0													53.0	65.0	61.0					4																	39515778		2196	4288	6484	SO:0001819	synonymous_variant	0			-	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.189C>T	4.37:g.39515778G>A			B3KUU2|B4DN25|O60589	Silent	SNP	pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.S63	ENST00000316423.6	37	c.189	CCDS3455.1	4																																																																																			-	UGDH	-	pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man		0.308	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	HGNC	protein_coding	OTTHUMT00000216818.3	0	0		79	79		0.00		G	NM_003359		39515778	-1	40		79		tier1	no_errors	ENST00000316423	ensembl	human	known	74_37	silent	33.61		SNP	0.992	A	40	79
DIP2A	23181	genome.wustl.edu	37	21	47987694	47987694	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47987694C>T	ENST00000417564.2	+	0	4896				DIP2A_ENST00000400274.1_3'UTR|DIP2A_ENST00000318711.7_3'UTR|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)						multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GAAAGCACTTCCTGAATTATT	0.433													ENSG00000160305																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.*159C>T	21.37:g.47987694C>T			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	R	SNP	-	NULL	ENST00000417564.2	37	NULL	CCDS46655.1	21																																																																																			-	DIP2A	-	-		0.433	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	0	0		18	18		0.00		C	NM_015151		47987694	+1	7		16		tier1	no_errors	ENST00000479654	ensembl	human	putative	74_37	rna	30.43		SNP	0.002	T	7	16
TRPC4	7223	genome.wustl.edu	37	13	38266465	38266465	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:38266465G>A	ENST00000379705.3	-	4	1762	c.905C>T	c.(904-906)gCc>gTc	p.A302V	TRPC4_ENST00000447043.1_Missense_Mutation_p.A302V|TRPC4_ENST00000379673.2_Missense_Mutation_p.A302V|TRPC4_ENST00000379679.1_Missense_Mutation_p.A129V|TRPC4_ENST00000338947.5_Missense_Mutation_p.A129V|TRPC4_ENST00000355779.2_Missense_Mutation_p.A302V|TRPC4_ENST00000358477.2_Missense_Mutation_p.A302V|TRPC4_ENST00000426868.2_Missense_Mutation_p.A302V|TRPC4_ENST00000379681.3_Missense_Mutation_p.A302V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	302	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATTGGGCTGGGCAACAAACTA	0.433													ENSG00000133107																																					0													52.0	42.0	45.0					13																	38266465		2203	4300	6503	SO:0001583	missense	0			-	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.905C>T	13.37:g.38266465G>A	ENSP00000369027:p.Ala302Val		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A302V	ENST00000379705.3	37	c.905	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.250182	0.95305	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.88581	0.6475	M	0.93763	3.455	0.80722	D	1	D;D;D;D;P;D	0.67145	0.966;0.966;0.996;0.994;0.937;0.988	P;P;D;D;P;P	0.77557	0.852;0.852;0.99;0.945;0.852;0.87	D	0.91272	0.5045	10	0.72032	D	0.01	-14.1265	19.0681	0.93122	0.0:0.0:1.0:0.0	.	302;302;302;129;302;302	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	302;302;129;129;302;302;302;302;302	ENSP00000369027:A302V;ENSP00000369003:A302V;ENSP00000342580:A129V;ENSP00000369001:A129V;ENSP00000410133:A302V;ENSP00000348025:A302V;ENSP00000351264:A302V;ENSP00000368995:A302V;ENSP00000414316:A302V	ENSP00000342580:A129V	A	-	2	0	TRPC4	37164465	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.690000	0.98676	2.573000	0.86826	0.467000	0.42956	GCC	-	TRPC4	-	tigrfam_TRP_channel		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	0	0		19	19		0.00		G	NM_003306		38266465	-1	8		15		tier1	no_errors	ENST00000379681	ensembl	human	known	74_37	missense	34.78		SNP	1.000	A	8	15
C2orf49	79074	genome.wustl.edu	37	2	105953996	105953996	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:105953996C>T	ENST00000258457.2	+	0	181				RP11-332H14.2_ENST00000610036.1_lincRNA|C2orf49_ENST00000437250.2_Silent_p.F22F|C2orf49_ENST00000410049.1_5'UTR			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49						embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						CGCAACGCTTCCTTCGCGGGG	0.662													ENSG00000135974																																					0													15.0	18.0	17.0					2																	105953996		2201	4298	6499	SO:0001623	5_prime_UTR_variant	0			-	BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.-49C>T	2.37:g.105953996C>T			B3KXN3|B4E2G9	Silent	SNP	NULL	p.F22	ENST00000258457.2	37	c.66	CCDS2068.1	2																																																																																			-	C2orf49	-	NULL		0.662	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf49	HGNC	protein_coding	OTTHUMT00000253353.2	0	0		74	74		0.00		C	NM_024093		105953996	+1	27		67		tier1	no_errors	ENST00000437250	ensembl	human	known	74_37	silent	28.72		SNP	0.001	T	27	67
ACTBL2	345651	genome.wustl.edu	37	5	56777819	56777819	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:56777819C>T	ENST00000423391.1	-	1	817	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	239						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTCATAGCTCCGTTCCGGTGA	0.552													ENSG00000169067																																					0													90.0	79.0	83.0					5																	56777819		2203	4300	6503	SO:0001583	missense	0			-		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.716G>A	5.37:g.56777819C>T	ENSP00000416706:p.Arg239Gln		B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R239Q	ENST00000423391.1	37	c.716	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064104	0.20067	.	.	ENSG00000169067	ENST00000423391	D	0.94613	-3.47	4.91	2.11	0.27256	.	0.150709	0.42821	D	0.000649	D	0.87386	0.6164	N	0.21282	0.65	0.32225	N	0.574742	B	0.22146	0.065	B	0.14578	0.011	D	0.84415	0.0568	10	0.87932	D	0	.	6.8068	0.23782	0.0:0.6214:0.0:0.3786	.	239	Q562R1	ACTBL_HUMAN	Q	239	ENSP00000416706:R239Q	ENSP00000416706:R239Q	R	-	2	0	ACTBL2	56813576	1.000000	0.71417	0.887000	0.34795	0.760000	0.43138	4.878000	0.63093	0.666000	0.31087	0.655000	0.94253	CGG	-	ACTBL2	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	0	0		33	33		0.00		C	NM_001017992		56777819	-1	17		28		tier1	no_errors	ENST00000423391	ensembl	human	known	74_37	missense	37.78		SNP	1.000	T	17	28
SAMD7	344658	genome.wustl.edu	37	3	169644534	169644534	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:169644534G>A	ENST00000428432.2	+	6	873	c.484G>A	c.(484-486)Gga>Aga	p.G162R	SAMD7_ENST00000335556.3_Missense_Mutation_p.G162R	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	162										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAACCTTCAGGGAAACCCCAT	0.562													ENSG00000187033																																					0													63.0	66.0	65.0					3																	169644534		2203	4300	6503	SO:0001583	missense	0			-	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.484G>A	3.37:g.169644534G>A	ENSP00000391299:p.Gly162Arg			Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.G162R	ENST00000428432.2	37	c.484	CCDS3209.1	3	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202067	0.58234	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.56776	0.44;0.44	6.16	5.29	0.74685	.	0.174258	0.52532	D	0.000070	T	0.50633	0.1627	M	0.66939	2.045	0.39920	D	0.97414	B	0.34200	0.441	B	0.26094	0.066	T	0.58352	-0.7651	10	0.87932	D	0	-12.9578	15.0803	0.72108	0.068:0.0:0.932:0.0	.	162	Q7Z3H4	SAMD7_HUMAN	R	162	ENSP00000391299:G162R;ENSP00000334668:G162R	ENSP00000334668:G162R	G	+	1	0	SAMD7	171127228	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	6.903000	0.75703	1.623000	0.50342	0.650000	0.86243	GGA	-	SAMD7	-	NULL		0.562	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD7	HGNC	protein_coding	OTTHUMT00000351959.1	0	0		41	41		0.00		G	NM_182610		169644534	+1	4		35		tier1	no_errors	ENST00000335556	ensembl	human	known	74_37	missense	10.00		SNP	1.000	A	4	35
ULK2	9706	genome.wustl.edu	37	17	19689318	19689318	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:19689318C>T	ENST00000395544.4	-	21	2682	c.2183G>A	c.(2182-2184)gGg>gAg	p.G728E	ULK2_ENST00000361658.2_Missense_Mutation_p.G728E	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	728					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGGAGGAGACCCTACAGTGAA	0.507													ENSG00000083290																																					0													79.0	75.0	76.0					17																	19689318		2203	4300	6503	SO:0001583	missense	0			-	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2183G>A	17.37:g.19689318C>T	ENSP00000378914:p.Gly728Glu		A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G728E	ENST00000395544.4	37	c.2183	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.190537	0.94923	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.64260	-0.09;-0.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	M	0.75777	2.31	0.58432	D	0.999995	P	0.39883	0.693	P	0.45681	0.49	T	0.75363	-0.3344	10	0.87932	D	0	-14.649	18.4087	0.90543	0.0:1.0:0.0:0.0	.	728	Q8IYT8	ULK2_HUMAN	E	728	ENSP00000354877:G728E;ENSP00000378914:G728E	ENSP00000354877:G728E	G	-	2	0	ULK2	19629910	1.000000	0.71417	0.976000	0.42696	0.965000	0.64279	7.147000	0.77382	2.602000	0.87976	0.536000	0.68110	GGG	-	ULK2	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.507	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	0	0		68	68		0.00		C	NM_014683		19689318	-1	25		60		tier1	no_errors	ENST00000361658	ensembl	human	known	74_37	missense	29.41		SNP	1.000	T	25	60
GRIK5	2901	genome.wustl.edu	37	19	42506553	42506553	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42506553G>A	ENST00000262895.3	-	18	2514				GRIK5_ENST00000301218.4_Missense_Mutation_p.P887L|GRIK5_ENST00000593562.1_Intron	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5						cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				caggaggaaaggacagacttg	0.527													ENSG00000105737																																					0																																										SO:0001627	intron_variant	0			-		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2514+930C>T	19.37:g.42506553G>A			Q8WWG8	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.P887L	ENST00000262895.3	37	c.2660	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416406	0.25552	.	.	ENSG00000105737	ENST00000301218	T	0.14766	2.48	1.46	1.46	0.22682	.	286.690000	0.00424	N	0.000076	T	0.12561	0.0305	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27502	-1.0072	7	0.35671	T	0.21	.	6.3416	0.21327	0.0:0.0:1.0:0.0	.	.	.	.	L	887	ENSP00000301218:P887L	ENSP00000301218:P887L	P	-	2	0	GRIK5	47198393	0.019000	0.18553	0.009000	0.14445	0.367000	0.29736	0.804000	0.27098	1.111000	0.41721	0.305000	0.20034	CCT	-	GRIK5	-	NULL		0.527	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	0	0		60	60		0.00		G			42506553	-1	17		52		tier1	no_errors	ENST00000301218	ensembl	human	known	74_37	missense	24.64		SNP	0.011	A	17	52
PCDHGB4	8641	genome.wustl.edu	37	5	140767511	140767511	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140767511C>T	ENST00000519479.1	+	1	60	c.60C>T	c.(58-60)ttC>ttT	p.F20F	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	20					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCTCTTCCTGCTGTCTT	0.647											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000253953																																					0													6.0	7.0	7.0					5																	140767511		1709	3864	5573	SO:0001819	synonymous_variant	0			-	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.60C>T	5.37:g.140767511C>T		1658	O15099|Q2M267|Q9UN64	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F20	ENST00000519479.1	37	c.60	CCDS54928.1	5																																																																																			-	PCDHGB4	-	NULL		0.647	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	0	0		33	33		0.00		C	NM_003736		140767511	+1	13		27		tier1	no_errors	ENST00000519479	ensembl	human	known	74_37	silent	32.50		SNP	0.033	T	13	27
MT-ND5	4540	genome.wustl.edu	37	M	13881	13881	+	Silent	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrM:13881C>G	ENST00000361567.2	+	1	1545	c.1545C>G	c.(1543-1545)tcC>tcG	p.S515S	MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	515					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AAAATAAAATCCCCACTATGC	0.453													ENSG00000198786																																					0																																										SO:0001819	synonymous_variant	0			-			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1545C>G	M.37:g.13881C>G			Q34773|Q8WCY3	Silent	SNP	pfam_DH_UbQ/plastoQ_OxRdtase,pfam_DH_DH_su5_C,pfam_DH_UbQ_OxRdtase_chain5/L_N,tigrfam_DHpl_OxRdtase_5	p.S515	ENST00000361567.2	37	c.1545		MT																																																																																			-	MT-ND5	-	pfam_DH_DH_su5_C		0.453	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		0	0		55	55		0.00		C	YP_003024036		13881	+1	2		10		tier1	no_errors	ENST00000361567	ensembl	human	known	74_37	silent	16.67		SNP	NULL	G	2	10
STAP1	26228	genome.wustl.edu	37	4	68447177	68447177	+	Missense_Mutation	SNP	A	A	G	rs549630921		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:68447177A>G	ENST00000265404.2	+	5	600	c.518A>G	c.(517-519)aAc>aGc	p.N173S	STAP1_ENST00000396225.1_Missense_Mutation_p.N173S	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	173					intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GATGTACTGAACCCTATGCCA	0.388													ENSG00000035720	A|||	1	0.000199681	0.0	0.0	5008	,	,		20860	0.0		0.0	False		,,,				2504	0.001																0													220.0	199.0	206.0					4																	68447177		2203	4300	6503	SO:0001583	missense	0			-	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.518A>G	4.37:g.68447177A>G	ENSP00000265404:p.Asn173Ser		B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.N173S	ENST00000265404.2	37	c.518	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	A	1.501	-0.552022	0.03996	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.42900	0.96;0.96	5.58	0.204	0.15199	SH2 motif (1);	0.490237	0.23295	N	0.049742	T	0.20047	0.0482	L	0.27053	0.805	0.29734	N	0.837636	B	0.10296	0.003	B	0.10450	0.005	T	0.30736	-0.9968	10	0.05721	T	0.95	-5.1855	4.972	0.14121	0.5435:0.2978:0.1587:0.0	.	173	Q9ULZ2	STAP1_HUMAN	S	173	ENSP00000265404:N173S;ENSP00000379527:N173S	ENSP00000265404:N173S	N	+	2	0	STAP1	68129772	0.961000	0.32948	0.996000	0.52242	0.340000	0.28889	0.401000	0.20948	-0.079000	0.12707	-0.328000	0.08392	AAC	-	STAP1	-	NULL		0.388	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1	0	0		47	47		0.00		A	NM_012108		68447177	+1	28		57		tier1	no_errors	ENST00000265404	ensembl	human	known	74_37	missense	32.94		SNP	0.998	G	28	57
ABHD17A	81926	genome.wustl.edu	37	19	1877605	1877605	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1877605G>A	ENST00000292577.7	-	4	1042	c.609C>T	c.(607-609)taC>taT	p.Y203Y	CTB-31O20.2_ENST00000565797.1_lincRNA|ABHD17A_ENST00000250974.9_Silent_p.Y254Y|CTB-31O20.9_ENST00000592720.1_lincRNA|ABHD17A_ENST00000590661.1_Missense_Mutation_p.T172M	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	203						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CGGCACACTCGTAGCGCGAGG	0.677													ENSG00000129968																																					0													10.0	11.0	11.0					19																	1877605		2106	4081	6187	SO:0001819	synonymous_variant	0			-	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.609C>T	19.37:g.1877605G>A			A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	NULL	p.T172M	ENST00000292577.7	37	c.515	CCDS45902.1	19																																																																																			-	ABHD17A	-	NULL		0.677	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2	0	0		45	45		0.00		G	NM_031213		1877605	-1	19		22		tier1	no_errors	ENST00000590661	ensembl	human	novel	74_37	missense	46.34		SNP	0.932	A	19	22
MRC2	9902	genome.wustl.edu	37	17	60743898	60743898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:60743898G>A	ENST00000303375.5	+	4	1179	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	259	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGCTGTCGTGGAGGGAGGCCT	0.617													ENSG00000011028																																					0													50.0	49.0	49.0					17																	60743898		2203	4300	6503	SO:0001587	stop_gained	0			-	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.777G>A	17.37:g.60743898G>A	ENSP00000307513:p.Trp259*		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.W259*	ENST00000303375.5	37	c.777	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.038110	0.98621	.	.	ENSG00000011028	ENST00000303375	.	.	.	3.97	3.97	0.46021	.	0.137882	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9296	16.2383	0.82393	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000307513:W259X	W	+	3	0	MRC2	58097630	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	9.657000	0.98554	2.048000	0.60808	0.462000	0.41574	TGG	-	MRC2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.617	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	0	0		22	22		0.00		G			60743898	+1	13		28		tier1	no_errors	ENST00000303375	ensembl	human	known	74_37	nonsense	31.71		SNP	1.000	A	13	28
RSPO1	284654	genome.wustl.edu	37	1	38082235	38082235	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:38082235G>A	ENST00000401069.1	-	4	919	c.207C>T	c.(205-207)atC>atT	p.I69I	RSPO1_ENST00000356545.2_Silent_p.I69I|RSPO1_ENST00000401068.1_Silent_p.I69I|RSPO1_ENST00000401071.2_Silent_p.I69I|RSPO1_ENST00000401070.1_Silent_p.I69I|RSPO1_ENST00000373059.1_Silent_p.I42I	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	69					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCACCTGGCGGATGTCGTTCC	0.612													ENSG00000169218																									GBM(122;680 2230 27822 42821)												0													75.0	79.0	78.0					1																	38082235		2076	4208	6284	SO:0001819	synonymous_variant	0			-	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.207C>T	1.37:g.38082235G>A			A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.I69	ENST00000401069.1	37	c.207	CCDS41304.1	1																																																																																			-	RSPO1	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat		0.612	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO1	HGNC	protein_coding	OTTHUMT00000012477.2	0	0		29	29		0.00		G	NM_173640		38082235	-1	21		24		tier1	no_errors	ENST00000356545	ensembl	human	known	74_37	silent	46.67		SNP	1.000	A	21	24
DUOX2	50506	genome.wustl.edu	37	15	45386853	45386853	+	Missense_Mutation	SNP	G	G	A	rs371970228		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45386853G>A	ENST00000603300.1	-	33	4634	c.4432C>T	c.(4432-4434)Cgg>Tgg	p.R1478W	DUOX2_ENST00000389039.6_Missense_Mutation_p.R1478W	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1478					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)		AACAGACTCCGGTTCAGCACT	0.637													ENSG00000140279																																					0								G	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	76.0	60.0	65.0		4432	3.6	1.0	15		65	0,8596		0,0,4298	no	missense	DUOX2	NM_014080.4	101	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1478/1549	45386853	1,12991	2198	4298	6496	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.4432C>T	15.37:g.45386853G>A	ENSP00000475084:p.Arg1478Trp		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_D-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.R1478W	ENST00000603300.1	37	c.4432	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236482	0.79800	2.27E-4	0.0	ENSG00000140279	ENST00000389039	.	.	.	5.68	3.63	0.41609	Ferric reductase, NAD binding (1);	0.113132	0.64402	D	0.000016	T	0.78509	0.4294	M	0.83384	2.64	0.47065	D	0.999307	D	0.89917	1.0	D	0.75020	0.985	T	0.80661	-0.1283	9	0.46703	T	0.11	-28.753	13.3733	0.60725	0.0:0.0:0.6214:0.3786	.	1478	Q9NRD8	DUOX2_HUMAN	W	1478	.	ENSP00000373691:R1478W	R	-	1	2	DUOX2	43174145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.204000	0.58460	1.475000	0.48197	0.655000	0.94253	CGG	-	DUOX2	-	pfam_Fe_red_D-bd_6		0.637	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		0	0		49	49		0.00		G	NM_014080		45386853	-1	35		31		tier1	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	53.03		SNP	1.000	A	35	31
FOXS1	2307	genome.wustl.edu	37	20	30433190	30433190	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:30433190G>A	ENST00000375978.3	-	1	230	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	52					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|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)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GGTAGAAGGCGAATCGGCCCA	0.617													ENSG00000179772																																					0													77.0	64.0	68.0					20																	30433190		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.156C>T	20.37:g.30433190G>A			Q96D28	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F52	ENST00000375978.3	37	c.156	CCDS13192.1	20																																																																																			-	FOXS1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	HGNC	protein_coding	OTTHUMT00000078560.2	0	0		97	97		0.00		G	NM_004118		30433190	-1	68		116		tier1	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	36.96		SNP	0.980	A	68	116
EPB41L4B	54566	genome.wustl.edu	37	9	111954565	111954565	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:111954565G>A	ENST00000374566.3	-	22	2811	c.2294C>T	c.(2293-2295)aCt>aTt	p.T765I		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	765					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCAGAGGAGTGGCTTCTGT	0.512													ENSG00000095203																																					0													101.0	101.0	101.0					9																	111954565		1872	4104	5976	SO:0001583	missense	0			-	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2294C>T	9.37:g.111954565G>A	ENSP00000363694:p.Thr765Ile		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.T765I	ENST00000374566.3	37	c.2294	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227693	0.79576	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.88896	-2.44	5.18	5.18	0.71444	.	0.000000	0.36932	N	0.002324	D	0.92760	0.7698	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.93443	0.6795	10	0.87932	D	0	.	15.6046	0.76652	0.0:0.0:1.0:0.0	.	765	Q9H329	E41LB_HUMAN	I	450;765	ENSP00000363694:T765I	ENSP00000262536:T450I	T	-	2	0	EPB41L4B	110994386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.912000	0.69948	2.406000	0.81754	0.561000	0.74099	ACT	-	EPB41L4B	-	NULL		0.512	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	0	0		70	70		0.00		G	NM_018424		111954565	-1	35		62		tier1	no_errors	ENST00000374566	ensembl	human	known	74_37	missense	36.08		SNP	1.000	A	35	62
SCAMP3	10067	genome.wustl.edu	37	1	155226052	155226052	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155226052C>T	ENST00000302631.3	-	0	1163				FAM189B_ENST00000368368.3_5'Flank|SCAMP3_ENST00000355379.3_3'UTR|FAM189B_ENST00000361361.2_5'Flank|SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000350210.2_5'Flank|FAM189B_ENST00000472550.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3						post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCAGGGCATCCCAGTCAGGG	0.617													ENSG00000116521																																					0													48.0	55.0	53.0					1																	155226052		2202	4299	6501	SO:0001624	3_prime_UTR_variant	0			-	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.*12G>A	1.37:g.155226052C>T			A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	R	SNP	-	NULL	ENST00000302631.3	37	NULL	CCDS1105.1	1																																																																																			-	SCAMP3	-	-		0.617	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	0	0		32	32		0.00		C	NM_005698		155226052	-1	5		47		tier1	no_errors	ENST00000472397	ensembl	human	known	74_37	rna	9.62		SNP	0.018	T	5	47
TTN	7273	genome.wustl.edu	37	2	179606139	179606139	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179606139G>A	ENST00000591111.1	-	46	11094	c.10870C>T	c.(10870-10872)Ctt>Ttt	p.L3624F	TTN_ENST00000359218.5_Missense_Mutation_p.L3703F|TTN_ENST00000460472.2_Missense_Mutation_p.L3578F|TTN_ENST00000589042.1_Missense_Mutation_p.L3941F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3770F			Q8WZ42	TITIN_HUMAN	titin	13930	Ig-like 22.				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)			AACTCCTTAAGGAAGTGAGGA	0.458													ENSG00000155657																																					0													160.0	152.0	154.0					2																	179606139		1907	4134	6041	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.10870C>T	2.37:g.179606139G>A	ENSP00000465570:p.Leu3624Phe		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_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.L3770F	ENST00000591111.1	37	c.11308		2	.	.	.	.	.	.	.	.	.	.	G	7.144	0.582430	0.13749	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.46819	0.86;0.86;0.86	5.87	-0.0795	0.13710	.	.	.	.	.	T	0.40791	0.1131	M	0.71036	2.16	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.47156	-0.9139	9	0.87932	D	0	.	2.0472	0.03563	0.1435:0.3359:0.2707:0.2499	.	3578;3703;3770	D3DPF9;E7EQE6;E7ET18	.;.;.	F	3578;3770;3703;3578	ENSP00000434586:L3578F;ENSP00000340554:L3770F;ENSP00000352154:L3703F	ENSP00000340554:L3770F	L	-	1	0	TTN	179314384	0.692000	0.27719	0.995000	0.50966	0.351000	0.29236	0.047000	0.14056	0.144000	0.18951	-0.119000	0.15052	CTT	-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		33	33		0.00		G	NM_133378		179606139	-1	8		23		tier1	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	25.81		SNP	0.233	A	8	23
ADORA1	134	genome.wustl.edu	37	1	203134294	203134294	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:203134294C>T	ENST00000367236.4	+	3	1262				ADORA1_ENST00000309502.3_Intron|ADORA1_ENST00000472535.1_Intron|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Intron	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor						activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	GGAGGGTGCTCCTCTTAGAGG	0.602													ENSG00000163485																																					0																																										SO:0001627	intron_variant	0			-	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.342-95C>T	1.37:g.203134294C>T			A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	R	SNP	-	NULL	ENST00000367236.4	37	NULL	CCDS1434.1	1																																																																																			-	ADORA1	-	-		0.602	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	0	0		55	55		0.00		C	NM_000674		203134294	+1	23		67		tier1	no_errors	ENST00000464019	ensembl	human	known	74_37	rna	25.56		SNP	0.000	T	23	67
FAM83G	644815	genome.wustl.edu	37	17	18874837	18874837	+	Silent	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:18874837G>T	ENST00000388995.6	-	6	2530	c.2307C>A	c.(2305-2307)ccC>ccA	p.P769P	FAM83G_ENST00000345041.4_Silent_p.P769P|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Silent_p.P769P|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	769					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATCGGTCATGGGGCGGGCAT	0.647													ENSG00000188522																																					0													82.0	93.0	89.0					17																	18874837		1981	4143	6124	SO:0001819	synonymous_variant	0			-	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2307C>A	17.37:g.18874837G>T			Q3KQZ4|Q6ZW60	Silent	SNP	pfam_DUF1669	p.P769	ENST00000388995.6	37	c.2307	CCDS42276.1	17																																																																																			-	FAM83G	-	NULL		0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	0	0		73	73		0.00		G			18874837	-1	59		111		tier1	no_errors	ENST00000345041	ensembl	human	known	74_37	silent	34.71		SNP	0.000	T	59	111
COL1A2	1278	genome.wustl.edu	37	7	94056551	94056551	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:94056551C>T	ENST00000297268.6	+	48	3682	c.3211C>T	c.(3211-3213)Cct>Tct	p.P1071S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1071					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CACTGGACATCCTGGTACAGT	0.532										HNSCC(75;0.22)			ENSG00000164692																																					0													71.0	65.0	67.0					7																	94056551		2203	4300	6503	SO:0001583	missense	0			-	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3211C>T	7.37:g.94056551C>T	ENSP00000297268:p.Pro1071Ser		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	p.P1071S	ENST00000297268.6	37	c.3211	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833243	0.50951	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94793	-3.52	5.32	3.4	0.38934	.	0.116370	0.64402	D	0.000014	D	0.89979	0.6872	L	0.36672	1.1	0.39426	D	0.967007	B	0.13145	0.007	B	0.14578	0.011	D	0.87307	0.2309	10	0.40728	T	0.16	.	11.6308	0.51173	0.1267:0.6276:0.2458:0.0	.	1071	P08123	CO1A2_HUMAN	S	1071;1072	ENSP00000297268:P1071S	ENSP00000297268:P1071S	P	+	1	0	COL1A2	93894487	0.908000	0.30866	0.960000	0.40013	0.927000	0.56198	1.879000	0.39618	1.619000	0.50296	0.655000	0.94253	CCT	-	COL1A2	-	pfam_Collagen		0.532	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	0	0		46	46		0.00		C	NM_000089		94056551	+1	17		47		tier1	no_errors	ENST00000297268	ensembl	human	known	74_37	missense	26.15		SNP	0.960	T	17	47
UHRF1BP1	54887	genome.wustl.edu	37	6	34827038	34827038	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:34827038C>T	ENST00000192788.5	+	14	3076	c.2905C>T	c.(2905-2907)Cat>Tat	p.H969Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.H969Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	969							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGGAAGGGCCATGAGGCAGT	0.562													ENSG00000065060																																					0													38.0	41.0	40.0					6																	34827038		2046	4199	6245	SO:0001583	missense	0			-	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2905C>T	6.37:g.34827038C>T	ENSP00000192788:p.His969Tyr		Q9NXE0	Missense_Mutation	SNP	NULL	p.H969Y	ENST00000192788.5	37	c.2905	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757035	0.49468	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08370	3.1;3.1	5.79	5.79	0.91817	.	0.557477	0.18693	N	0.133784	T	0.03564	0.0102	N	0.14661	0.345	0.36416	D	0.864031	D	0.55385	0.971	P	0.45099	0.469	T	0.57148	-0.7861	10	0.21540	T	0.41	-9.5758	18.2012	0.89839	0.0:1.0:0.0:0.0	.	969	Q6BDS2	URFB1_HUMAN	Y	969	ENSP00000192788:H969Y;ENSP00000400628:H969Y	ENSP00000192788:H969Y	H	+	1	0	UHRF1BP1	34935016	1.000000	0.71417	0.918000	0.36340	0.578000	0.36192	4.097000	0.57741	2.731000	0.93534	0.591000	0.81541	CAT	-	UHRF1BP1	-	NULL		0.562	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	0	0		34	34		0.00		C	NM_017754		34827038	+1	8		45		tier1	no_errors	ENST00000192788	ensembl	human	known	74_37	missense	15.09		SNP	0.998	T	8	45
SCUBE3	222663	genome.wustl.edu	37	6	35211404	35211404	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35211404A>G	ENST00000274938.7	+	16	1943	c.1943A>G	c.(1942-1944)cAg>cGg	p.Q648R	SCUBE3_ENST00000394681.1_Missense_Mutation_p.Q664R	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TACCACGGCCAGACGGAGCAG	0.667													ENSG00000146197																																					0													42.0	39.0	40.0					6																	35211404		2203	4300	6503	SO:0001583	missense	0			-	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1943A>G	6.37:g.35211404A>G	ENSP00000274938:p.Gln648Arg			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_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,prints_Thrombomodulin	p.Q664R	ENST00000274938.7	37	c.1991	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	A	12.28	1.892047	0.33442	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.14391	2.51;2.51	5.43	4.2	0.49525	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.110177	0.64402	D	0.000006	T	0.02807	0.0084	N	0.11064	0.09	0.40007	D	0.975235	B;B	0.09022	0.002;0.002	B;B	0.12156	0.004;0.007	T	0.37753	-0.9692	10	0.22109	T	0.4	.	12.0969	0.53761	0.8566:0.1434:0.0:0.0	.	664;648	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	R	664;648	ENSP00000378174:Q664R;ENSP00000274938:Q648R	ENSP00000274938:Q648R	Q	+	2	0	SCUBE3	35319382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.051000	0.64257	2.073000	0.62155	0.528000	0.53228	CAG	-	SCUBE3	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom		0.667	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	0	0		41	41		0.00		A	NM_152753		35211404	+1	10		47		tier1	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	17.54		SNP	1.000	G	10	47
RNF41	10193	genome.wustl.edu	37	12	56600344	56600344	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56600344G>A	ENST00000345093.4	-	7	1210	c.841C>T	c.(841-843)Cct>Tct	p.P281S	RNF41_ENST00000552656.1_Missense_Mutation_p.P281S|RNF41_ENST00000394013.2_Missense_Mutation_p.P210S	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	281					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TGCTTGCCAGGGATGCGCTTG	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000181852																																					0													193.0	149.0	164.0					12																	56600344		2203	4300	6503	SO:0001583	missense	0			-	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.841C>T	12.37:g.56600344G>A	ENSP00000342755:p.Pro281Ser	1016	A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.P281S	ENST00000345093.4	37	c.841	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000399	0.93227	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.10288	2.89;2.89	5.21	5.21	0.72293	USP8 interacting (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.96;0.974	T	0.00875	-1.1531	10	0.49607	T	0.09	.	17.9232	0.88973	0.0:0.0:1.0:0.0	.	268;281	B4E353;Q9H4P4	.;RNF41_HUMAN	S	281;210;268;281	ENSP00000342755:P281S;ENSP00000447303:P281S	ENSP00000342755:P281S	P	-	1	0	RNF41	54886611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.917000	0.87498	2.606000	0.88127	0.655000	0.94253	CCT	-	RNF41	-	pfam_USP8_interacting		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	0	0		45	45		0.00		G	NM_005785		56600344	-1	10		24		tier1	no_errors	ENST00000345093	ensembl	human	known	74_37	missense	29.41		SNP	1.000	A	10	24
LRPPRC	10128	genome.wustl.edu	37	2	44175568	44175568	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:44175568G>A	ENST00000260665.7	-	17	1882	c.1825C>T	c.(1825-1827)Cat>Tat	p.H609Y		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	609					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCCAGCTGATGGAAGTATTGT	0.388													ENSG00000138095																																					0													126.0	112.0	117.0					2																	44175568		2203	4300	6503	SO:0001583	missense	0			-	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1825C>T	2.37:g.44175568G>A	ENSP00000260665:p.His609Tyr		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.H609Y	ENST00000260665.7	37	c.1825	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145097	0.57044	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.58060	0.36	5.72	5.72	0.89469	.	0.200673	0.53938	D	0.000060	T	0.73583	0.3605	M	0.78637	2.42	0.80722	D	1	D;D	0.67145	0.996;0.996	D;P	0.65010	0.931;0.852	T	0.73509	-0.3960	10	0.52906	T	0.07	-7.6383	20.244	0.98389	0.0:0.0:1.0:0.0	.	509;609	F5H4J6;P42704	.;LPPRC_HUMAN	Y	509;609	ENSP00000260665:H609Y	ENSP00000260665:H609Y	H	-	1	0	LRPPRC	44029072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.446000	0.66600	2.865000	0.98341	0.655000	0.94253	CAT	-	LRPPRC	-	NULL		0.388	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	0	0		54	54		0.00		G	NM_133259		44175568	-1	22		57		tier1	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	27.85		SNP	1.000	A	22	57
CRTC2	200186	genome.wustl.edu	37	1	153925794	153925794	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:153925794C>T	ENST00000368633.1	-	6	682	c.555G>A	c.(553-555)caG>caA	p.Q185Q	CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	185					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTAGGTATCCTGGGGACTGG	0.577													ENSG00000160741																																					0													71.0	73.0	73.0					1																	153925794		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.555G>A	1.37:g.153925794C>T			Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	NULL	p.Q185	ENST00000368633.1	37	c.555	CCDS30875.1	1																																																																																			-	CRTC2	-	NULL		0.577	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	0	0		55	55		0.00		C	NM_181715		153925794	-1	38		51		tier1	no_errors	ENST00000368633	ensembl	human	known	74_37	silent	42.70		SNP	1.000	T	38	51
C2orf43	60526	genome.wustl.edu	37	2	20939875	20939875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:20939875G>A	ENST00000237822.3	-	5	638	c.559C>T	c.(559-561)Cga>Tga	p.R187*	C2orf43_ENST00000403006.2_Nonsense_Mutation_p.R57*|C2orf43_ENST00000541941.1_Nonsense_Mutation_p.R57*|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000381090.3_Nonsense_Mutation_p.R187*|C2orf43_ENST00000435420.2_Nonsense_Mutation_p.R139*	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	187								p.R187*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACATATCGAAACCAGCAC	0.418													ENSG00000118961																																					1	Substitution - Nonsense(1)	large_intestine(1)											118.0	115.0	116.0					2																	20939875		2203	4300	6503	SO:0001587	stop_gained	0			-	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.559C>T	2.37:g.20939875G>A	ENSP00000237822:p.Arg187*		B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Nonsense_Mutation	SNP	pfam_DUF2305	p.R187*	ENST00000237822.3	37	c.559	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.554306	0.98355	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947;ENST00000412261	.	.	.	5.61	4.72	0.59763	.	0.056018	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-7.6822	13.8478	0.63479	0.0:0.0:0.8457:0.1542	.	.	.	.	X	57;187;187;139;57;57;139	.	ENSP00000237822:R187X	R	-	1	2	C2orf43	20803356	1.000000	0.71417	0.950000	0.38849	0.978000	0.69477	3.868000	0.56055	1.472000	0.48140	0.650000	0.86243	CGA	-	C2orf43	-	pfam_DUF2305		0.418	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	HGNC	protein_coding	OTTHUMT00000242861.1	0	0		58	58		0.00		G	NM_021925		20939875	-1	30		45		tier1	no_errors	ENST00000237822	ensembl	human	known	74_37	nonsense	40.00		SNP	1.000	A	30	45
GPR52	9293	genome.wustl.edu	37	1	174417664	174417664	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:174417664C>T	ENST00000367685.2	+	1	453	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	139					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CAGTGTGGATCGTTATCTTGC	0.418													ENSG00000203737																									Ovarian(92;924 1390 1930 16467 40583)												0													206.0	202.0	203.0					1																	174417664		2203	4300	6503	SO:0001583	missense	0			-	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.415C>T	1.37:g.174417664C>T	ENSP00000356658:p.Arg139Cys		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R139C	ENST00000367685.2	37	c.415	CCDS30941.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854757	0.71719	.	.	ENSG00000203737	ENST00000367685	D	0.97186	-4.28	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.98966	0.9648	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99260	1.0890	10	0.87932	D	0	-15.5579	20.2789	0.98501	0.0:1.0:0.0:0.0	.	139	Q9Y2T5	GPR52_HUMAN	C	139	ENSP00000356658:R139C	ENSP00000356658:R139C	R	+	1	0	GPR52	172684287	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.461000	0.80834	2.788000	0.95919	0.650000	0.86243	CGT	-	GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.418	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1	0	0		37	37		0.00		C	NM_005684		174417664	+1	15		17		tier1	no_errors	ENST00000367685	ensembl	human	known	74_37	missense	46.88		SNP	1.000	T	15	17
HCFC2	29915	genome.wustl.edu	37	12	104495890	104495890	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:104495890C>T	ENST00000229330.4	+	14	2127	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	675	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AACTTGTATTCCTGGTTTTCC	0.398													ENSG00000111727																									Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													137.0	134.0	135.0					12																	104495890		2203	4300	6503	SO:0001583	missense	0			-	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.2023C>T	12.37:g.104495890C>T	ENSP00000229330:p.Pro675Ser		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P675S	ENST00000229330.4	37	c.2023	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859607	0.91433	.	.	ENSG00000111727	ENST00000229330	T	0.50813	0.73	5.19	5.19	0.71726	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.86343	2.81	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.79441	-0.1802	10	0.87932	D	0	-14.0994	19.0707	0.93134	0.0:1.0:0.0:0.0	.	675	Q9Y5Z7	HCFC2_HUMAN	S	675	ENSP00000229330:P675S	ENSP00000229330:P675S	P	+	1	0	HCFC2	103020020	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.565000	0.86533	0.655000	0.94253	CCT	-	HCFC2	-	superfamily_Fibronectin_type3		0.398	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	0	0		70	70		0.00		C	NM_013320		104495890	+1	12		47		tier1	no_errors	ENST00000229330	ensembl	human	known	74_37	missense	20.34		SNP	1.000	T	12	47
SMC4	10051	genome.wustl.edu	37	3	160135717	160135717	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:160135717C>T	ENST00000357388.3	+	11	2095	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	SMC4_ENST00000344722.5_Silent_p.L548L|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Silent_p.L523L|SMC4_ENST00000462787.1_Silent_p.L548L|SMC4_ENST00000360111.2_Silent_p.L548L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	548					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGGAAAACTCCCTCAAACTG	0.373													ENSG00000113810																																					0													46.0	47.0	47.0					3																	160135717		2203	4298	6501	SO:0001819	synonymous_variant	0			-	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1644C>T	3.37:g.160135717C>T			A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.L548	ENST00000357388.3	37	c.1644	CCDS3189.1	3																																																																																			-	SMC4	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.373	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	0	0		56	56		0.00		C			160135717	+1	23		39		tier1	no_errors	ENST00000344722	ensembl	human	known	74_37	silent	37.10		SNP	1.000	T	23	39
DTX2	113878	genome.wustl.edu	37	7	76110035	76110035	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:76110035C>T	ENST00000324432.5	+	4	719	c.209C>T	c.(208-210)cCc>cTc	p.P70L	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Missense_Mutation_p.P70L|DTX2_ENST00000413936.2_Missense_Mutation_p.P70L|DTX2_ENST00000446820.2_Missense_Mutation_p.P70L|DTX2_ENST00000446600.1_Intron|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000307569.8_Missense_Mutation_p.P70L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	70	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CAGGCAGACCCCTCGCTGGCC	0.617													ENSG00000091073																																					0													24.0	25.0	25.0					7																	76110035		2202	4300	6502	SO:0001583	missense	0			-		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.209C>T	7.37:g.76110035C>T	ENSP00000322885:p.Pro70Leu		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.P70L	ENST00000324432.5	37	c.209	CCDS5587.1	7	.	.	.	.	.	.	.	.	.	.	.	20.9	4.058911	0.76074	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000413936;ENST00000423646;ENST00000438930;ENST00000430490;ENST00000423250;ENST00000429179;ENST00000435861;ENST00000446820	T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.68	5.68	0.88126	WWE domain (2);WWE domain, subgroup (1);	0.055850	0.64402	D	0.000001	T	0.55257	0.1909	M	0.79475	2.455	0.80722	D	1	P;P	0.47604	0.898;0.727	B;P	0.46940	0.426;0.532	T	0.60177	-0.7314	10	0.56958	D	0.05	-31.0474	18.7607	0.91849	0.0:1.0:0.0:0.0	.	70;70	Q86UW9-2;Q86UW9	.;DTX2_HUMAN	L	70	ENSP00000322885:P70L;ENSP00000305242:P70L;ENSP00000390218:P70L;ENSP00000415838:P70L;ENSP00000387894:P70L;ENSP00000411986:P70L;ENSP00000403342:P70L;ENSP00000399639:P70L;ENSP00000392545:P70L	ENSP00000305242:P70L	P	+	2	0	AC005522.1	75947971	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	7.452000	0.80683	2.682000	0.91365	0.563000	0.77884	CCC	-	DTX2	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom		0.617	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	0	0		64	64		0.00		C			76110035	+1	25		54		tier1	no_errors	ENST00000324432	ensembl	human	known	74_37	missense	31.65		SNP	1.000	T	25	54
MAPT	4137	genome.wustl.edu	37	17	44039689	44039689	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:44039689G>A	ENST00000262410.5	+	0	308				MAPT_ENST00000574436.1_5'Flank|MAPT_ENST00000431008.3_5'Flank|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000344290.5_5'UTR|MAPT_ENST00000340799.5_5'UTR|MAPT_ENST00000415613.2_5'Flank|MAPT_ENST00000334239.8_5'UTR|MAPT_ENST00000571987.1_5'Flank|MAPT_ENST00000535772.1_5'UTR|MAPT_ENST00000351559.5_5'UTR|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000420682.2_5'Flank|MAPT_ENST00000446361.3_5'UTR	NM_016835.4	NP_058519.3	P10636	TAU_HUMAN	microtubule-associated protein tau						adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TTCCCCAGGTGAACTTTGAAC	0.582													ENSG00000186868																																					0													31.0	30.0	31.0					17																	44039689		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000262410.5:c.-15G>A	17.37:g.44039689G>A			P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	R	SNP	-	NULL	ENST00000262410.5	37	NULL	CCDS11501.1	17																																																																																			-	MAPT	-	-		0.582	MAPT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding		0	0		53	53		0.00		G	NM_016835		44039689	+1	19		51		tier1	no_errors	ENST00000570299	ensembl	human	known	74_37	rna	27.14		SNP	0.797	A	19	51
MAP9	79884	genome.wustl.edu	37	4	156269048	156269048	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:156269048C>T	ENST00000311277.4	-	14	2094	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000597955.1_RNA|AC097467.2_ENST00000593486.1_RNA|AC097467.2_ENST00000595760.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608463.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.E587K|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000512269.1_RNA|AC097467.2_ENST00000608092.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	611					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCTTGTTTTTCCTTATTTTCC	0.343													ENSG00000164114																																					0													72.0	69.0	70.0					4																	156269048		2200	4297	6497	SO:0001583	missense	0			-	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1831G>A	4.37:g.156269048C>T	ENSP00000310593:p.Glu611Lys		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.E611K	ENST00000311277.4	37	c.1831	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853912	0.71719	.	.	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.20598	2.06;2.1	5.72	5.72	0.89469	.	0.114454	0.64402	D	0.000018	T	0.36908	0.0984	L	0.52364	1.645	0.80722	D	1	D;D	0.55605	0.972;0.972	D;D	0.64321	0.924;0.924	T	0.03384	-1.1042	10	0.87932	D	0	-30.1356	11.2036	0.48756	0.0:0.9161:0.0:0.0839	.	586;611	B4DVG9;Q49MG5	.;MAP9_HUMAN	K	611;587	ENSP00000310593:E611K;ENSP00000427402:E587K	ENSP00000310593:E611K	E	-	1	0	MAP9	156488498	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	2.995000	0.49441	2.865000	0.98341	0.655000	0.94253	GAA	-	MAP9	-	NULL		0.343	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	0	0		43	43		0.00		C	NM_001039580		156269048	-1	18		38		tier1	no_errors	ENST00000311277	ensembl	human	known	74_37	missense	32.14		SNP	1.000	T	18	38
LMBRD2	92255	genome.wustl.edu	37	5	36137496	36137496	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:36137496G>A	ENST00000296603.4	-	5	878	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	139						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAGTGATGGAAAACCCTCC	0.328													ENSG00000164187																																					0													81.0	81.0	81.0					5																	36137496		2203	4300	6503	SO:0001583	missense	0			-		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.416C>T	5.37:g.36137496G>A	ENSP00000296603:p.Ser139Phe		B3KRB6|Q9NTC7	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.S139F	ENST00000296603.4	37	c.416	CCDS34145.1	5	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889851	0.91889	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.33216	1.42	5.73	5.73	0.89815	LMBR1-like membrane protein (1);	0.052649	0.85682	D	0.000000	T	0.53351	0.1791	L	0.58101	1.795	0.80722	D	1	D	0.62365	0.991	D	0.64877	0.93	T	0.51834	-0.8655	10	0.72032	D	0.01	-11.5535	19.8961	0.96958	0.0:0.0:1.0:0.0	.	139	Q68DH5	LMBD2_HUMAN	F	139;33	ENSP00000296603:S139F	ENSP00000296603:S139F	S	-	2	0	LMBRD2	36173253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.135000	0.94478	2.699000	0.92147	0.655000	0.94253	TCC	-	LMBRD2	-	pfam_LMBR1-like_membr_prot		0.328	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	HGNC	protein_coding	OTTHUMT00000367552.1	0	0		108	108		0.00		G	NM_001007527		36137496	-1	31		110		tier1	no_errors	ENST00000296603	ensembl	human	known	74_37	missense	21.99		SNP	1.000	A	31	110
MUC12	10071	genome.wustl.edu	37	7	100646584	100646584	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100646584C>T	ENST00000379442.3	+	5	13169	c.13169C>T	c.(13168-13170)tCc>tTc	p.S4390F	MUC12_ENST00000536621.1_Missense_Mutation_p.S4247F			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4390	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						TCTACAGCTTCCCACAGCAGC	0.572													ENSG00000205277																																					0													47.0	73.0	65.0					7																	100646584		684	1587	2271	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.13169C>T	7.37:g.100646584C>T	ENSP00000368755:p.Ser4390Phe		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.S4247F	ENST00000379442.3	37	c.12740		7	.	.	.	.	.	.	.	.	.	.	c	0.911	-0.719053	0.03182	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12879	2.64;2.64	0.801	-0.271	0.12922	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36432	-0.9748	7	0.56958	D	0.05	.	5.221	0.15368	0.0:0.7555:0.0:0.2445	.	.	.	.	F	4390;4247	ENSP00000368755:S4390F;ENSP00000441929:S4247F	ENSP00000368755:S4390F	S	+	2	0	MUC12	100433304	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.794000	0.04584	-0.099000	0.12263	0.423000	0.28283	TCC	-	MUC12	-	NULL		0.572	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	0	0		194	194		0.00		C	XM_379904		100646584	+1	22		244		tier1	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	8.24		SNP	0.002	T	22	244
WNK2	65268	genome.wustl.edu	37	9	96021237	96021237	+	Missense_Mutation	SNP	C	C	T	rs149576658		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:96021237C>T	ENST00000297954.4	+	11	2407	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	WNK2_ENST00000395477.2_Missense_Mutation_p.P803S|WNK2_ENST00000427277.2_Missense_Mutation_p.P415S|WNK2_ENST00000349097.3_Missense_Mutation_p.P415S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.P737S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	803					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGTTGTGCCCCCCATCACGCC	0.647													ENSG00000165238																																					0													34.0	37.0	36.0					9																	96021237		2203	4299	6502	SO:0001583	missense	0			-	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2407C>T	9.37:g.96021237C>T	ENSP00000297954:p.Pro803Ser		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	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.P803S	ENST00000297954.4	37	c.2407		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.808010|2.808010	0.50421|0.50421	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277	T|T;T;T;T;T;T	0.60797|0.71817	0.16|-0.6;-0.4;-0.35;-0.6;0.2;0.25	5.01|5.01	4.05|4.05	0.47172|0.47172	.|.	0.291814|0.291814	0.32134|0.32134	N|N	0.006531|0.006531	T|T	0.64023|0.64023	0.2561|0.2561	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;P;D;P;P	.|0.59767	.|0.908;0.775;0.986;0.908;0.851	.|B;B;P;B;B	.|0.49799	.|0.436;0.306;0.622;0.436;0.253	T|T	0.61451|0.61451	-0.7060|-0.7060	8|10	0.49607|0.28530	T|T	0.09|0.3	.|.	12.5041|12.5041	0.55972|0.55972	0.0:0.6202:0.3798:0.0|0.0:0.6202:0.3798:0.0	.|.	.|803;803;406;803;803	.|Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	L|S	406|751;803;803;737;415;415	ENSP00000414622:P406L|ENSP00000412465:P751S;ENSP00000297954:P803S;ENSP00000378860:P803S;ENSP00000378858:P737S;ENSP00000297876:P415S;ENSP00000411181:P415S	ENSP00000414622:P406L|ENSP00000297954:P803S	P|P	+|+	2|1	0|0	WNK2|WNK2	95061058|95061058	0.993000|0.993000	0.37304|0.37304	0.583000|0.583000	0.28640|0.28640	0.791000|0.791000	0.44710|0.44710	1.143000|1.143000	0.31553|0.31553	2.309000|2.309000	0.77851|0.77851	0.462000|0.462000	0.41574|0.41574	CCC|CCC	-	WNK2	-	NULL		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	0	0		82	82		0.00		C	NM_006648		96021237	+1	41		65		tier1	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	38.68		SNP	1.000	T	41	65
SLC47A1	55244	genome.wustl.edu	37	17	19451344	19451344	+	Missense_Mutation	SNP	G	G	A	rs77138970		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:19451344G>A	ENST00000270570.4	+	4	439	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	SLC47A1_ENST00000436810.2_Missense_Mutation_p.R95Q|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.R118Q|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000542886.1_Missense_Mutation_p.R118Q|SLC47A1_ENST00000575023.1_Missense_Mutation_p.R118Q|SLC47A1_ENST00000457293.1_Missense_Mutation_p.R118Q	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	118					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	ATCCTGCAGCGGAGTGCGCTC	0.612													ENSG00000142494	G|||	1	0.000199681	0.0	0.0	5008	,	,		19290	0.0		0.001	False		,,,				2504	0.0																0													143.0	120.0	128.0					17																	19451344		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.353G>A	17.37:g.19451344G>A	ENSP00000270570:p.Arg118Gln		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.R118Q	ENST00000270570.4	37	c.353	CCDS11209.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.86	3.238273	0.58886	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.99	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	M	0.93016	3.37	0.21445	N	0.999687	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;P;D;D	0.74348	0.983;0.889;0.974;0.959	T	0.61242	-0.7102	10	0.87932	D	0	-23.5453	12.2823	0.54771	0.0829:0.0:0.9171:0.0	.	95;118;118;118	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	Q	95;118;118;118;118	ENSP00000407155:R95Q;ENSP00000270570:R118Q;ENSP00000415586:R118Q;ENSP00000440435:R118Q;ENSP00000378951:R118Q	ENSP00000270570:R118Q	R	+	2	0	SLC47A1	19391936	0.993000	0.37304	0.021000	0.16686	0.003000	0.03518	6.101000	0.71479	1.100000	0.41517	0.462000	0.41574	CGG	rs77138970	SLC47A1	-	pfam_MATE,tigrfam_MATE		0.612	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	0	0		54	54		0.00		G	NM_018242		19451344	+1	19		36		tier1	no_errors	ENST00000395585	ensembl	human	known	74_37	missense	34.55		SNP	0.258	A	19	36
PARN	5073	genome.wustl.edu	37	16	14702154	14702154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:14702154G>A	ENST00000437198.2	-	9	784	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	PARN_ENST00000420015.2_Nonsense_Mutation_p.Q169*|PARN_ENST00000566021.1_5'Flank|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Nonsense_Mutation_p.Q154*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	215	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CTCAAAGTCTGATAAATTAGT	0.333													ENSG00000140694																																					0													26.0	24.0	25.0					16																	14702154		1322	2919	4241	SO:0001587	stop_gained	0			-	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.643C>T	16.37:g.14702154G>A	ENSP00000387911:p.Gln215*		B2RCB3|B4DDG8|B4DWR4|B4E1H6	Nonsense_Mutation	SNP	pfam_RNase_CAF1,pfam_PolyA-riboNase_R_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd	p.Q215*	ENST00000437198.2	37	c.643	CCDS45419.1	16	.	.	.	.	.	.	.	.	.	.	G	38	6.988701	0.97983	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	.	.	.	5.56	5.56	0.83823	.	0.060740	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.3051	18.8713	0.92315	0.0:0.0:1.0:0.0	.	.	.	.	X	215;154;169;198	.	ENSP00000345456:Q154X	Q	-	1	0	PARN	14609655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	2.777000	0.95525	0.655000	0.94253	CAG	-	PARN	-	pfam_RNase_CAF1,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd		0.333	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARN	HGNC	protein_coding	OTTHUMT00000422383.1	0	0		112	112		0.00		G	NM_002582		14702154	-1	45		93		tier1	no_errors	ENST00000437198	ensembl	human	known	74_37	nonsense	32.61		SNP	1.000	A	45	93
DENND4C	55667	genome.wustl.edu	37	9	19347012	19347012	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:19347012G>T	ENST00000380432.2	+	18	3423	c.3390G>T	c.(3388-3390)atG>atT	p.M1130I	DENND4C_ENST00000602925.1_Missense_Mutation_p.M1366I|DENND4C_ENST00000434457.2_Missense_Mutation_p.M1415I			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1130					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATCTGGTATGAAACAAGCAG	0.458													ENSG00000137145																																					0													56.0	56.0	56.0					9																	19347012		2203	4300	6503	SO:0001583	missense	0			-	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3390G>T	9.37:g.19347012G>T	ENSP00000369797:p.Met1130Ile		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	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.M1366I	ENST00000380432.2	37	c.4098		9	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596768	0.86953	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024;ENST00000380424	T;T	0.54279	0.58;0.58	5.56	5.56	0.83823	.	0.058561	0.64402	D	0.000011	T	0.71143	0.3305	M	0.66939	2.045	0.58432	D	0.999998	D;D;D;D	0.67145	0.991;0.996;0.983;0.994	D;D;D;D	0.75484	0.92;0.986;0.92;0.977	T	0.65923	-0.6050	10	0.27082	T	0.32	-11.7675	19.5261	0.95208	0.0:0.0:1.0:0.0	.	460;1130;312;1130	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	I	1130;603;312;460;603;312;127;1	ENSP00000305795:M603I;ENSP00000443804:M460I	ENSP00000305795:M603I	M	+	3	0	DENND4C	19337012	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.616000	0.88540	0.655000	0.94253	ATG	-	DENND4C	-	NULL		0.458	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		0	0		17	17		0.00		G	NM_017925		19347012	+1	10		8		tier1	no_errors	ENST00000602925	ensembl	human	known	74_37	missense	55.56		SNP	1.000	T	10	8
ARPP21	10777	genome.wustl.edu	37	3	35833730	35833730	+	Intron	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:35833730T>C	ENST00000187397.4	+	19	2488				ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa						cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAATGCATTCTTAGGGAATAA	0.343													ENSG00000172995																																					0																																										SO:0001627	intron_variant	0			-	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2033-144T>C	3.37:g.35833730T>C			B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	R	SNP	-	NULL	ENST00000187397.4	37	NULL	CCDS2661.1	3																																																																																			-	ARPP21	-	-		0.343	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	0	0		52	52		0.00		T	NM_198399		35833730	+1	19		39		tier1	no_errors	ENST00000476052	ensembl	human	known	74_37	rna	32.76		SNP	0.000	C	19	39
CCSER1	401145	genome.wustl.edu	37	4	91321246	91321246	+	Silent	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:91321246T>G	ENST00000509176.1	+	4	1857	c.1569T>G	c.(1567-1569)ctT>ctG	p.L523L	CCSER1_ENST00000432775.2_Silent_p.L523L|CCSER1_ENST00000333691.8_Silent_p.L523L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	523																	TGCTTGATCTTGAATTTTTAG	0.353													ENSG00000184305																																					0													186.0	157.0	166.0					4																	91321246		1857	4119	5976	SO:0001819	synonymous_variant	0			-		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1569T>G	4.37:g.91321246T>G			Q4W5M0|Q86V57	Silent	SNP	NULL	p.L523	ENST00000509176.1	37	c.1569	CCDS47099.1	4																																																																																			-	CCSER1	-	NULL		0.353	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	0	0		26	26		0.00		T	NM_001145065		91321246	+1	19		33		tier1	no_errors	ENST00000333691	ensembl	human	known	74_37	silent	36.54		SNP	0.995	G	19	33
ALPI	248	genome.wustl.edu	37	2	233320961	233320961	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233320961C>G	ENST00000295463.3	+	1	129	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	18					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACAGCTCTCCCTGGGCGTCAT	0.662													ENSG00000163295																																					0													69.0	70.0	70.0					2																	233320961		2203	4300	6503	SO:0001583	missense	0			-	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.52C>G	2.37:g.233320961C>G	ENSP00000295463:p.Leu18Val		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.L18V	ENST00000295463.3	37	c.52	CCDS2492.1	2	.	.	.	.	.	.	.	.	.	.	c	9.328	1.059841	0.19987	.	.	ENSG00000163295	ENST00000295463	T	0.54479	0.57	4.96	4.08	0.47627	.	0.707453	0.14193	N	0.335226	T	0.43122	0.1233	M	0.73753	2.245	0.09310	N	0.999998	P	0.43094	0.799	B	0.30179	0.112	T	0.37842	-0.9688	10	0.24483	T	0.36	.	7.152	0.25616	0.1688:0.7412:0.0:0.09	.	18	P09923	PPBI_HUMAN	V	18	ENSP00000295463:L18V	ENSP00000295463:L18V	L	+	1	2	ALPI	233029205	0.000000	0.05858	0.018000	0.16275	0.020000	0.10135	-0.048000	0.11944	1.409000	0.46915	0.563000	0.77884	CTG	-	ALPI	-	NULL		0.662	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2	0	0		132	132		0.00		C	NM_001631		233320961	+1	60		73		tier1	no_errors	ENST00000295463	ensembl	human	known	74_37	missense	45.11		SNP	0.631	G	60	73
MUC5AC	4586	genome.wustl.edu	37	11	1213551	1213551	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1213551C>T	ENST00000358378.6	+	0	792							P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCTGCGAGACCCCCAGAGGCT	0.607													ENSG00000215182																																					0													236.0	236.0	236.0					11																	1213551		875	1990	2865	SO:0001624	3_prime_UTR_variant	0			-	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.*789C>T	11.37:g.1213551C>T			O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	R	SNP	-	NULL	ENST00000358378.6	37	NULL		11																																																																																			-	MUC5AC	-	-		0.607	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	MUC5AC	HGNC	protein_coding	OTTHUMT00000396096.2	0	0		64	64		0.00		C	XM_001130382		1213551	+1	14		65		tier1	no_errors	ENST00000358378	ensembl	human	putative	74_37	rna	17.72		SNP	0.000	T	14	65
B3GAT1	27087	genome.wustl.edu	37	11	134254067	134254067	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:134254067G>A	ENST00000524765.1	-	3	4672	c.128C>T	c.(127-129)cCc>cTc	p.P43L	B3GAT1_ENST00000312527.4_Missense_Mutation_p.P43L|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P43L|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P56L|B3GAT1_ENST00000531510.1_5'UTR			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	43					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TTCGCGTCGGGGGTCACTGCC	0.706													ENSG00000109956																																					0													21.0	16.0	18.0					11																	134254067		2125	4156	6281	SO:0001583	missense	0			-	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.128C>T	11.37:g.134254067G>A	ENSP00000433847:p.Pro43Leu		Q96FS7	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.P56L	ENST00000524765.1	37	c.167	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860615	0.32884	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.7	4.7	0.59300	.	0.560115	0.20087	N	0.099531	T	0.49525	0.1562	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.21309	0.016;0.054	B;B	0.20384	0.029;0.021	T	0.34179	-0.9839	10	0.27082	T	0.32	-17.2928	13.383	0.60780	0.0:0.1581:0.8419:0.0	.	56;43	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	L	43;43;43;56	ENSP00000376359:P43L;ENSP00000307875:P43L;ENSP00000433847:P43L;ENSP00000445983:P56L	ENSP00000307875:P43L	P	-	2	0	B3GAT1	133759277	0.997000	0.39634	0.804000	0.32291	0.167000	0.22549	3.502000	0.53332	2.157000	0.67596	0.491000	0.48974	CCC	-	B3GAT1	-	NULL		0.706	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	0	0		9	9		0.00		G	NM_018644		134254067	-1	5		7		tier1	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	41.67		SNP	0.069	A	5	7
C4orf19	55286	genome.wustl.edu	37	4	37592333	37592333	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:37592333G>A	ENST00000284437.6	+	3	834	c.656G>A	c.(655-657)gGa>gAa	p.G219E	C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.G219E	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	219								p.G219E(1)		large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						TCCCTAGAGGGAATTCAGCCC	0.478													ENSG00000154274																																					1	Substitution - Missense(1)	skin(1)											54.0	55.0	55.0					4																	37592333		2203	4300	6503	SO:0001583	missense	0			-	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.656G>A	4.37:g.37592333G>A	ENSP00000284437:p.Gly219Glu		Q9NV03	Missense_Mutation	SNP	NULL	p.G219E	ENST00000284437.6	37	c.656	CCDS3442.1	4	.	.	.	.	.	.	.	.	.	.	G	7.528	0.658076	0.14645	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.30182	1.54;1.54	4.78	-2.84	0.05751	.	1.014910	0.07877	N	0.969019	T	0.24005	0.0581	L	0.42245	1.32	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30001	-0.9993	10	0.45353	T	0.12	-0.8167	8.4068	0.32619	0.641:0.0:0.2394:0.1196	.	219	Q8IY42	CD019_HUMAN	E	219	ENSP00000371408:G219E;ENSP00000284437:G219E	ENSP00000284437:G219E	G	+	2	0	C4orf19	37268728	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.236000	0.09003	-0.841000	0.04200	-0.218000	0.12543	GGA	-	C4orf19	-	NULL		0.478	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	HGNC	protein_coding	OTTHUMT00000250432.1	0	0		25	25		0.00		G	NM_018302		37592333	+1	18		28		tier1	no_errors	ENST00000284437	ensembl	human	known	74_37	missense	39.13		SNP	0.000	A	18	28
RAD23A	5886	genome.wustl.edu	37	19	13059109	13059109	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:13059109C>T	ENST00000586534.1	+	3	414	c.353C>T	c.(352-354)gCc>gTc	p.A118V	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.A118V|RAD23A_ENST00000316856.3_Missense_Mutation_p.A118V|RAD23A_ENST00000541222.1_5'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	118					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCACCTGCCGCCAGAGAGGAC	0.667								Nucleotide excision repair (NER)					ENSG00000179262																																					0													43.0	50.0	48.0					19																	13059109		2203	4300	6503	SO:0001583	missense	0			-		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.353C>T	19.37:g.13059109C>T	ENSP00000467024:p.Ala118Val		K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23	p.A118V	ENST00000586534.1	37	c.353	CCDS12289.1	19	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300892	0.23650	.	.	ENSG00000179262	ENST00000316856	T	0.20598	2.06	4.54	0.205	0.15204	.	0.392085	0.25411	N	0.030876	T	0.08758	0.0217	N	0.08118	0	0.41251	D	0.986713	B;B;B	0.13594	0.0;0.003;0.008	B;B;B	0.09377	0.001;0.003;0.004	T	0.19778	-1.0295	10	0.37606	T	0.19	-36.1646	6.675	0.23090	0.318:0.4214:0.2606:0.0	.	118;135;118	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	V	118	ENSP00000321365:A118V	ENSP00000321365:A118V	A	+	2	0	RAD23A	12920109	0.013000	0.17824	0.151000	0.22473	0.858000	0.48976	-0.091000	0.11146	-0.138000	0.11434	0.650000	0.86243	GCC	-	RAD23A	-	tigrfam_Rad23		0.667	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD23A	HGNC	protein_coding	OTTHUMT00000452752.1	0	0		48	48		0.00		C	NM_005053		13059109	+1	10		40		tier1	no_errors	ENST00000586534	ensembl	human	known	74_37	missense	20.00		SNP	0.119	T	10	40
PHKA1	5255	genome.wustl.edu	37	X	71813108	71813108	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:71813108A>T	ENST00000373542.4	-	29	3248	c.3089T>A	c.(3088-3090)aTg>aAg	p.M1030K	PHKA1_ENST00000339490.3_Missense_Mutation_p.M1017K|PHKA1_ENST00000541944.1_Missense_Mutation_p.M958K|PHKA1_ENST00000373545.3_Missense_Mutation_p.M988K|PHKA1_ENST00000373539.3_Missense_Mutation_p.M1047K	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1030					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACTTGGAGTCATAGAGGTTCC	0.413													ENSG00000067177																																					0													72.0	63.0	66.0					X																	71813108		2203	4300	6503	SO:0001583	missense	0			-		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3089T>A	X.37:g.71813108A>T	ENSP00000362643:p.Met1030Lys		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.M1047K	ENST00000373542.4	37	c.3140	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	A	0.403	-0.917063	0.02415	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90324	-2.6;-2.65;-2.62;-2.6;-2.6	5.05	5.05	0.67936	.	0.724385	0.12904	N	0.429553	D	0.82351	0.5018	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.11329	0.0;0.004;0.006;0.0	T	0.68815	-0.5309	10	0.25751	T	0.34	6.0E-4	11.7406	0.51790	1.0:0.0:0.0:0.0	.	958;988;1017;1030	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	K	988;1030;958;1017;1047	ENSP00000362646:M988K;ENSP00000362643:M1030K;ENSP00000441251:M958K;ENSP00000342469:M1017K;ENSP00000362640:M1047K	ENSP00000342469:M1017K	M	-	2	0	PHKA1	71729833	0.011000	0.17503	0.040000	0.18447	0.924000	0.55760	2.519000	0.45546	1.673000	0.50895	0.481000	0.45027	ATG	-	PHKA1	-	NULL		0.413	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	0	0		68	68		0.00		A			71813108	-1	63		22		tier1	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	74.12		SNP	0.003	T	63	22
FBXO18	84893	genome.wustl.edu	37	10	5932245	5932245	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5932245G>A	ENST00000362091.4	+	0	52				FBXO18_ENST00000470089.1_3'UTR|ANKRD16_ENST00000380092.4_5'Flank|FBXO18_ENST00000397269.3_Intron|ANKRD16_ENST00000191063.8_5'Flank|ANKRD16_ENST00000380094.5_5'Flank	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGGGACGCTGGGCTGAgcggc	0.796													ENSG00000134452																																					0													1.0	1.0	1.0					10																	5932245		155	347	502	SO:0001623	5_prime_UTR_variant	0			-	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.-64G>A	10.37:g.5932245G>A			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	R	SNP	-	NULL	ENST00000362091.4	37	NULL	CCDS7072.1	10																																																																																			-	FBXO18	-	-		0.796	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	0	0		24	24		0.00		G	NM_032807		5932245	+1	9		22		tier1	no_errors	ENST00000462507	ensembl	human	known	74_37	rna	29.03		SNP	0.098	A	9	22
FOXK1	221937	genome.wustl.edu	37	7	4794920	4794920	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:4794920C>T	ENST00000328914.4	+	4	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F	FOXK1_ENST00000446823.1_Missense_Mutation_p.S156F	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGGCCATCTCCTCCGCCCAG	0.627													ENSG00000164916																																					0													69.0	60.0	63.0					7																	4794920		2203	4300	6503	SO:0001583	missense	0			-	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.956C>T	7.37:g.4794920C>T	ENSP00000328720:p.Ser319Phe			Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.S319F	ENST00000328914.4	37	c.956	CCDS34591.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.235922	0.95240	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95690	-3.78;-3.78	5.35	5.35	0.76521	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	L	0.49699	1.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.963	D	0.93795	0.7096	10	0.07644	T	0.81	.	18.0801	0.89440	0.0:1.0:0.0:0.0	.	319;156	P85037;P85037-2	FOXK1_HUMAN;.	F	156;83;319;202	ENSP00000394442:S156F;ENSP00000328720:S319F	ENSP00000328720:S319F	S	+	2	0	FOXK1	4761446	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.811000	0.86092	2.503000	0.84419	0.655000	0.94253	TCC	-	FOXK1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.627	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	0	0		57	57		0.00		C			4794920	+1	7		67		tier1	no_errors	ENST00000328914	ensembl	human	known	74_37	missense	9.46		SNP	1.000	T	7	67
TTN	7273	genome.wustl.edu	37	2	179584942	179584942	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179584942C>T	ENST00000591111.1	-	79	22700	c.22476G>A	c.(22474-22476)ggG>ggA	p.G7492G	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.G7809G|TTN_ENST00000342992.6_Silent_p.G6565G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13048	Ig-like 57.				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)			CAACAGCATCCCCAATAAGGG	0.443													ENSG00000155657																																					0													101.0	93.0	96.0					2																	179584942		1861	4104	5965	SO:0001819	synonymous_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.22476G>A	2.37:g.179584942C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	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.G6565	ENST00000591111.1	37	c.19695		2																																																																																			-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		37	37		0.00		C	NM_133378		179584942	-1	10		33		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	23.26		SNP	0.849	T	10	33
EEFSEC	60678	genome.wustl.edu	37	3	127981041	127981041	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:127981041C>T	ENST00000254730.6	+	3	649	c.595C>T	c.(595-597)Cca>Tca	p.P199S	EEFSEC_ENST00000483457.1_Missense_Mutation_p.P199S	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	199	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AACTGAAGCTCCACAGGGCAT	0.572													ENSG00000132394																																					0													86.0	98.0	94.0					3																	127981041		2203	4300	6503	SO:0001583	missense	0			-		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.595C>T	3.37:g.127981041C>T	ENSP00000254730:p.Pro199Ser		Q96HZ6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.P199S	ENST00000254730.6	37	c.595	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351461	0.24512	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.55052	0.88;0.54	5.31	3.39	0.38822	Protein synthesis factor, GTP-binding (1);	0.173031	0.52532	D	0.000079	T	0.37892	0.1020	N	0.11313	0.125	0.44214	D	0.997045	P;B	0.51057	0.941;0.223	P;B	0.48425	0.577;0.17	T	0.18808	-1.0325	10	0.36615	T	0.2	.	10.3769	0.44088	0.1514:0.7028:0.1457:0.0	.	199;199	C9J8T0;P57772	.;SELB_HUMAN	S	199	ENSP00000254730:P199S;ENSP00000417660:P199S	ENSP00000254730:P199S	P	+	1	0	EEFSEC	129463731	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	2.638000	0.46562	1.224000	0.43551	-0.169000	0.13324	CCA	-	EEFSEC	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase		0.572	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	HGNC	protein_coding	OTTHUMT00000356738.2	0	0		34	34		0.00		C	NM_021937		127981041	+1	20		37		tier1	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	35.09		SNP	1.000	T	20	37
CTPS1	1503	genome.wustl.edu	37	1	41475839	41475839	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:41475839C>T	ENST00000372621.4	+	18	2206	c.1698C>T	c.(1696-1698)acC>acT	p.T566T	CTPS1_ENST00000372616.1_Silent_p.T566T|CTPS1_ENST00000541520.1_Silent_p.T335T	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						ACAGGGACACCTATAGTGACA	0.453													ENSG00000171793																																					0													123.0	114.0	117.0					1																	41475839		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1698C>T	1.37:g.41475839C>T				Silent	SNP	pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase	p.T566	ENST00000372621.4	37	c.1698	CCDS459.1	1																																																																																			-	CTPS1	-	NULL		0.453	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	HGNC	protein_coding	OTTHUMT00000015629.1	0	0		94	94		0.00		C	NM_001905		41475839	+1	44		93		tier1	no_errors	ENST00000372616	ensembl	human	known	74_37	silent	32.12		SNP	0.916	T	44	93
ZNF281	23528	genome.wustl.edu	37	1	200376611	200376611	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:200376611A>T	ENST00000294740.3	-	2	2347	c.2223T>A	c.(2221-2223)ttT>ttA	p.F741L	ZNF281_ENST00000367353.1_Missense_Mutation_p.F741L|ZNF281_ENST00000367352.3_Missense_Mutation_p.F705L	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	741					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GCTGAGATCCAAACAACATCC	0.448													ENSG00000162702																																					0													65.0	64.0	64.0					1																	200376611		2203	4300	6503	SO:0001583	missense	0			-	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2223T>A	1.37:g.200376611A>T	ENSP00000294740:p.Phe741Leu		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F741L	ENST00000294740.3	37	c.2223	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	A	9.046	0.990846	0.18966	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.39997	1.05;1.05;1.05	5.44	4.32	0.51571	.	0.265483	0.36374	N	0.002635	T	0.12347	0.0300	N	0.00538	-1.39	0.34613	D	0.717781	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07908	-1.0748	10	0.23891	T	0.37	-1.0171	7.1856	0.25797	0.7792:0.1466:0.0742:0.0	.	705;741	A6NF48;Q9Y2X9	.;ZN281_HUMAN	L	741;741;705;446	ENSP00000294740:F741L;ENSP00000356322:F741L;ENSP00000356321:F705L	ENSP00000294740:F741L	F	-	3	2	ZNF281	198643234	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.904000	0.56325	0.911000	0.36747	0.533000	0.62120	TTT	-	ZNF281	-	NULL		0.448	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	0	0		70	70		0.00		A	NM_012482		200376611	-1	23		68		tier1	no_errors	ENST00000294740	ensembl	human	known	74_37	missense	25.27		SNP	1.000	T	23	68
VSTM2A	222008	genome.wustl.edu	37	7	54636899	54636899	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:54636899C>T	ENST00000407838.3	+	0	1238				VSTM2A_ENST00000402613.3_Missense_Mutation_p.P237L|VSTM2A_ENST00000498834.1_3'UTR|GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000404951.1_Missense_Mutation_p.P306L	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A							extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CACCCTGCACCCACTGTACTC	0.438													ENSG00000170419																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.*121C>T	7.37:g.54636899C>T			A4D2E9|B5MC94	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P306L	ENST00000407838.3	37	c.917	CCDS5512.2	7	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183634	0.78677	.	.	ENSG00000170419	ENST00000404951;ENST00000402613	T;T	0.69685	-0.42;0.68	6.17	6.17	0.99709	.	.	.	.	.	D	0.82879	0.5133	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84007	0.0346	8	0.87932	D	0	7.5147	16.3795	0.83443	0.0:1.0:0.0:0.0	.	306	B5MCX6	.	L	306;237	ENSP00000384701:P306L;ENSP00000384103:P237L	ENSP00000384103:P237L	P	+	2	0	VSTM2A	54604393	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.623000	0.67757	2.941000	0.99782	0.655000	0.94253	CCC	-	VSTM2A	-	NULL		0.438	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1	0	0		24	24		0.00		C	NM_182546		54636899	+1	17		30		tier1	no_errors	ENST00000404951	ensembl	human	putative	74_37	missense	36.17		SNP	1.000	T	17	30
TRAF6	7189	genome.wustl.edu	37	11	36511549	36511549	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:36511549C>A	ENST00000526995.1	-	7	1654	c.1408G>T	c.(1408-1410)Ggt>Tgt	p.G470C	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.G470C	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	470	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TAGCCAAAACCTTTTGGGTTC	0.463													ENSG00000175104																																					0													87.0	86.0	87.0					11																	36511549		2201	4279	6480	SO:0001583	missense	0			-		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1408G>T	11.37:g.36511549C>A	ENSP00000433623:p.Gly470Cys		A6NKI7|A8KAB3|D3DR16|Q8NEH5	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.G470C	ENST00000526995.1	37	c.1408	CCDS7901.1	11	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513990	0.85389	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.51071	0.72;0.72	5.46	5.46	0.80206	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80867	-0.1190	10	0.87932	D	0	-22.3866	19.6799	0.95958	0.0:1.0:0.0:0.0	.	470	Q9Y4K3	TRAF6_HUMAN	C	470	ENSP00000433623:G470C;ENSP00000337853:G470C	ENSP00000337853:G470C	G	-	1	0	TRAF6	36468125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.739000	0.93911	0.555000	0.69702	GGT	-	TRAF6	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.463	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	HGNC	protein_coding	OTTHUMT00000389530.1	0	0		129	129		0.00		C	NM_145803		36511549	-1	36		121		tier1	no_errors	ENST00000348124	ensembl	human	known	74_37	missense	22.78		SNP	1.000	A	36	121
SYNDIG1	79953	genome.wustl.edu	37	20	24524039	24524039	+	Nonsense_Mutation	SNP	G	G	A	rs371527396		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:24524039G>A	ENST00000376862.3	+	2	939	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	102					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.W102*(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGCGCTCCTGGGGGGACGGTG	0.637													ENSG00000101463																																					1	Substitution - Nonsense(1)	skin(1)											60.0	61.0	60.0					20																	24524039		2203	4300	6503	SO:0001587	stop_gained	0			-	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.306G>A	20.37:g.24524039G>A	ENSP00000366058:p.Trp102*		Q6IA30|Q9H514	Nonsense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.W102*	ENST00000376862.3	37	c.306	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	42	9.228544	0.99106	.	.	ENSG00000101463	ENST00000376862	.	.	.	5.85	5.85	0.93711	.	0.130857	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-14.3677	17.645	0.88146	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000366058:W102X	W	+	3	0	SYNDIG1	24472039	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.200000	0.95010	2.766000	0.95052	0.655000	0.94253	TGG	-	SYNDIG1	-	NULL		0.637	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	0	0		50	50		0.00		G	NM_024893		24524039	+1	17		66		tier1	no_errors	ENST00000376862	ensembl	human	known	74_37	nonsense	20.48		SNP	1.000	A	17	66
MUC5B	727897	genome.wustl.edu	37	11	1256380	1256380	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1256380G>A	ENST00000529681.1	+	22	2754	c.2696G>A	c.(2695-2697)gGg>gAg	p.G899E	MUC5B_ENST00000447027.1_Missense_Mutation_p.G902E	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	899	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		GTGGCCTACGGGGATGGCCAC	0.652													ENSG00000117983																																					0													58.0	67.0	64.0					11																	1256380		2114	4218	6332	SO:0001583	missense	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.2696G>A	11.37:g.1256380G>A	ENSP00000436812:p.Gly899Glu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	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.G902E	ENST00000529681.1	37	c.2705	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209553	0.39003	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.65916	-0.18;-0.18	4.37	4.37	0.52481	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	.	.	.	.	D	0.85660	0.5748	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90879	0.4752	9	0.87932	D	0	.	17.164	0.86810	0.0:0.0:1.0:0.0	.	899;1558;902	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	E	899;902;900;935	ENSP00000436812:G899E;ENSP00000415793:G902E	ENSP00000343037:G900E	G	+	2	0	MUC5B	1212956	1.000000	0.71417	0.522000	0.27862	0.342000	0.28953	6.600000	0.74132	2.270000	0.75569	0.555000	0.69702	GGG	-	MUC5B	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	0	0		35	35		0.00		G	XM_001126093		1256380	+1	14		44		tier1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	24.14		SNP	1.000	A	14	44
CCDC157	550631	genome.wustl.edu	37	22	30769697	30769697	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:30769697G>A	ENST00000405659.1	+	8	2156	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.E483K			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	483										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GGCCCGCGTGGAGGAGCAGCT	0.677													ENSG00000187860																																					0													13.0	16.0	15.0					22																	30769697		2165	4248	6413	SO:0001583	missense	0			-	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1447G>A	22.37:g.30769697G>A	ENSP00000385357:p.Glu483Lys		Q0VD76|Q9BYA4	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SRE	p.E483K	ENST00000405659.1	37	c.1447	CCDS33632.2	22	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639677	0.47153	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.37915	1.17;1.17	4.28	3.22	0.36961	.	0.476775	0.22822	N	0.055218	T	0.28466	0.0704	L	0.56769	1.78	0.21290	N	0.999734	B	0.25955	0.138	B	0.21151	0.033	T	0.17653	-1.0362	10	0.08837	T	0.75	-19.9055	10.2678	0.43466	0.1597:0.0:0.8403:0.0	.	483	Q569K6	CC157_HUMAN	K	483	ENSP00000385357:E483K;ENSP00000343087:E483K	ENSP00000343087:E483K	E	+	1	0	CCDC157	29099697	0.964000	0.33143	0.982000	0.44146	0.222000	0.24845	2.550000	0.45811	2.217000	0.71921	0.561000	0.74099	GAG	-	CCDC157	-	NULL		0.677	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	HGNC	protein_coding	OTTHUMT00000320936.1	0	0		39	39		0.00		G	NM_001017437		30769697	+1	20		48		tier1	no_errors	ENST00000338306	ensembl	human	known	74_37	missense	29.41		SNP	0.213	A	20	48
MYOF	26509	genome.wustl.edu	37	10	95157177	95157177	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:95157177C>T	ENST00000359263.4	-	14	1257	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	MYOF_ENST00000371502.4_Missense_Mutation_p.E420K|MYOF_ENST00000358334.5_Missense_Mutation_p.E420K|MYOF_ENST00000371501.4_Missense_Mutation_p.E420K|MYOF_ENST00000371489.1_Missense_Mutation_p.E420K	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	420	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATTCCACTCTGGGTTTGCA	0.289													ENSG00000138119																																					0													150.0	137.0	141.0					10																	95157177		1806	4075	5881	SO:0001583	missense	0			-	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1258G>A	10.37:g.95157177C>T	ENSP00000352208:p.Glu420Lys		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.E420K	ENST00000359263.4	37	c.1258	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042632	0.93685	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.35	4.35	0.52113	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	L	0.58810	1.83	0.80722	D	1	D;P;D	0.76494	0.999;0.567;0.999	D;P;D	0.85130	0.997;0.561;0.982	T	0.80167	-0.1495	10	0.49607	T	0.09	-11.8882	17.0569	0.86536	0.0:1.0:0.0:0.0	.	402;420;420	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	K	420	ENSP00000351094:E420K;ENSP00000352208:E420K;ENSP00000360556:E420K;ENSP00000360557:E420K;ENSP00000360544:E420K	ENSP00000351094:E420K	E	-	1	0	MYOF	95147167	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	7.292000	0.78731	2.227000	0.72691	0.313000	0.20887	GAG	-	MYOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.289	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	0	0		76	76		0.00		C	NM_013451		95157177	-1	24		33		tier1	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	42.11		SNP	1.000	T	24	33
BIRC6	57448	genome.wustl.edu	37	2	32774388	32774388	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:32774388C>T	ENST00000421745.2	+	65	13118	c.12984C>T	c.(12982-12984)gcC>gcT	p.A4328A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4328					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGGTTCTTGCCAGTTACATAA	0.363													ENSG00000115760																									Pancreas(94;175 1509 16028 18060 45422)												0													106.0	102.0	103.0					2																	32774388		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12984C>T	2.37:g.32774388C>T			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A4328	ENST00000421745.2	37	c.12984	CCDS33175.2	2																																																																																			-	BIRC6	-	NULL		0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	0	0		75	75		0.00		C	NM_016252		32774388	+1	25		60		tier1	no_errors	ENST00000421745	ensembl	human	known	74_37	silent	29.41		SNP	0.819	T	25	60
NEB	4703	genome.wustl.edu	37	2	152512421	152512421	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152512421G>A	ENST00000172853.10	-	50	6759	c.6612C>T	c.(6610-6612)taC>taT	p.Y2204Y	NEB_ENST00000604864.1_Silent_p.Y2204Y|NEB_ENST00000603639.1_Silent_p.Y2204Y|NEB_ENST00000427231.2_Silent_p.Y2204Y|NEB_ENST00000409198.1_Silent_p.Y2204Y|NEB_ENST00000397345.3_Silent_p.Y2204Y			P20929	NEBU_HUMAN	nebulin	2204					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTGCTGGCGGTATTTCTGAT	0.473													ENSG00000183091																																					0													157.0	151.0	153.0					2																	152512421		1986	4157	6143	SO:0001819	synonymous_variant	0			-	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6612C>T	2.37:g.152512421G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Y2204	ENST00000172853.10	37	c.6612		2																																																																																			-	NEB	-	smart_Nebulin_35r-motif		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		0	0		71	71		0.00		G	NM_004543		152512421	-1	34		40		tier1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	45.95		SNP	1.000	A	34	40
OR52E4	390081	genome.wustl.edu	37	11	5905837	5905837	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5905837T>C	ENST00000316987.2	+	1	337	c.315T>C	c.(313-315)ttT>ttC	p.F105F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTTCTTTATTCACATGT	0.473													ENSG00000180974																																					0													104.0	93.0	97.0					11																	5905837		2201	4296	6497	SO:0001819	synonymous_variant	0			-	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.315T>C	11.37:g.5905837T>C			Q6IFG0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F105	ENST00000316987.2	37	c.315	CCDS31401.1	11																																																																																			-	OR52E4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.473	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E4	HGNC	protein_coding	OTTHUMT00000401146.1	0	0		62	62		0.00		T	NM_001005165		5905837	+1	36		41		tier1	no_errors	ENST00000316987	ensembl	human	known	74_37	silent	46.75		SNP	0.041	C	36	41
ATP13A4	84239	genome.wustl.edu	37	3	193160292	193160292	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:193160292C>T	ENST00000342695.4	-	19	2528	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E717K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	736						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCTGGCTTTCAGAAACCATT	0.408													ENSG00000127249																																					0													112.0	107.0	109.0					3																	193160292		2203	4300	6503	SO:0001583	missense	0			-	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2206G>A	3.37:g.193160292C>T	ENSP00000339182:p.Glu736Lys		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.E736K	ENST00000342695.4	37	c.2206	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827325	0.32329	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.57107	0.42;0.42	5.87	4.1	0.47936	HAD-like domain (2);	0.388909	0.26590	N	0.023525	T	0.32041	0.0816	N	0.17674	0.51	0.20307	N	0.999918	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.008;0.005;0.008	T	0.18745	-1.0327	10	0.10902	T	0.67	-14.4354	8.4567	0.32903	0.0:0.7303:0.1275:0.1422	.	717;736;736	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	K	717;736	ENSP00000376238:E717K;ENSP00000339182:E736K	ENSP00000339182:E736K	E	-	1	0	ATP13A4	194642986	0.000000	0.05858	0.934000	0.37439	0.974000	0.67602	0.363000	0.20301	0.949000	0.37715	-0.137000	0.14449	GAA	-	ATP13A4	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.408	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	0	0		61	61		0.00		C	NM_032279		193160292	-1	21		57		tier1	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	26.92		SNP	0.249	T	21	57
PLXNB2	23654	genome.wustl.edu	37	22	50717402	50717402	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:50717402G>A	ENST00000449103.1	-	28	4568	c.4428C>T	c.(4426-4428)gcC>gcT	p.A1476A	PLXNB2_ENST00000359337.4_Silent_p.A1476A			O15031	PLXB2_HUMAN	plexin B2	1476					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCACCGGGATGGCGTCCACTC	0.622													ENSG00000196576																																					0													115.0	119.0	118.0					22																	50717402		2200	4298	6498	SO:0001819	synonymous_variant	0			-		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4428C>T	22.37:g.50717402G>A			A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A1476	ENST00000449103.1	37	c.4428	CCDS43035.1	22																																																																																			-	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	0	0		32	32		0.00		G	NM_012401		50717402	-1	7		30		tier1	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	18.92		SNP	0.142	A	7	30
ATP2B2	491	genome.wustl.edu	37	3	10491104	10491104	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:10491104C>T	ENST00000352432.4	-	1	193	c.124G>A	c.(124-126)Gct>Act	p.A42T	ATP2B2_ENST00000343816.4_Missense_Mutation_p.A42T|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A42T|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A42T|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A42T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	42					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTGACCACAGCCTCAGTGCCC	0.547													ENSG00000157087																									Ovarian(125;1619 1709 15675 19819 38835)												0													102.0	93.0	96.0					3																	10491104		2203	4300	6503	SO:0001583	missense	0			-	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.124G>A	3.37:g.10491104C>T	ENSP00000324172:p.Ala42Thr		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.A42T	ENST00000352432.4	37	c.124	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.085063	0.94100	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	D;D;D;D;D	0.92495	-3.05;-3.03;-3.03;-3.05;-3.04	4.77	4.77	0.60923	.	0.069239	0.56097	D	0.000026	D	0.95689	0.8598	M	0.79614	2.46	0.58432	D	0.999999	D;B;P	0.76494	0.999;0.246;0.935	D;B;P	0.80764	0.994;0.196;0.76	D	0.96107	0.9074	10	0.66056	D	0.02	-16.5668	15.2863	0.73831	0.0:1.0:0.0:0.0	.	42;54;42	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	T	42;42;42;42;42;8;42	ENSP00000324172:A42T;ENSP00000373311:A42T;ENSP00000380267:A42T;ENSP00000353414:A42T;ENSP00000344677:A42T	ENSP00000342954:A42T	A	-	1	0	ATP2B2	10466104	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.711000	0.84669	2.192000	0.70111	0.462000	0.41574	GCT	-	ATP2B2	-	NULL		0.547	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	0	0		52	52		0.00		C	NM_001683		10491104	-1	25		49		tier1	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	33.78		SNP	1.000	T	25	49
OR8D2	283160	genome.wustl.edu	37	11	124189418	124189418	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:124189418G>A	ENST00000357438.2	-	1	766	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	226						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TGAATACCAAGGATACTAGAG	0.423													ENSG00000197263																																					0													91.0	95.0	94.0					11																	124189418		2201	4299	6500	SO:0001583	missense	0			-	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.676C>T	11.37:g.124189418G>A	ENSP00000350022:p.Leu226Phe		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L226F	ENST00000357438.2	37	c.676	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	g	9.584	1.124387	0.20959	.	.	ENSG00000197263	ENST00000357438	T	0.00296	8.24	3.34	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.177154	0.25792	N	0.028264	T	0.00271	0.0008	M	0.72118	2.19	0.09310	N	0.999993	B	0.18968	0.032	B	0.21917	0.037	T	0.31138	-0.9954	10	0.48119	T	0.1	.	11.0056	0.47633	0.0974:0.0:0.9026:0.0	.	226	Q9GZM6	OR8D2_HUMAN	F	226	ENSP00000350022:L226F	ENSP00000350022:L226F	L	-	1	0	OR8D2	123694628	0.000000	0.05858	0.025000	0.17156	0.071000	0.16799	-0.239000	0.08965	1.007000	0.39238	0.530000	0.56133	CTT	-	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	0	0		44	44		0.00		G	NM_001002918		124189418	-1	21		32		tier1	no_errors	ENST00000357438	ensembl	human	known	74_37	missense	39.62		SNP	0.277	A	21	32
RPL23AP79	100271626	genome.wustl.edu	37	19	59097599	59097599	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:59097599C>T	ENST00000493504.1	+	0	3282					NR_026052.1				ribosomal protein L23a pseudogene 79																		GTGGCTTTATCCCTGAGGCCA	0.592													ENSG00000213753																																					0																																												0			-			19q13.4	2009-03-11							36226	pseudogene	pseudogene						19123937	Standard	NG_010019		Approved						19.37:g.59097599C>T				R	SNP	-	NULL	ENST00000493504.1	37	NULL		19																																																																																			-	RPL23AP79	-	-		0.592	RPL23AP79-003	KNOWN	basic	processed_transcript	RPL23AP79	HGNC	pseudogene	OTTHUMT00000350753.1	0	0		39	39		0.00		C	NG_010019		59097599	+1	13		31		tier1	no_errors	ENST00000473164	ensembl	human	known	74_37	rna	29.55		SNP	0.045	T	13	31
OR5L1	219437	genome.wustl.edu	37	11	55579328	55579328	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:55579328C>T	ENST00000333973.2	+	1	475	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATCTGTAACCCTTTGCTATAC	0.507													ENSG00000186117																																					0													210.0	171.0	184.0					11																	55579328		2200	4296	6496	SO:0001583	missense	0			-	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.386C>T	11.37:g.55579328C>T	ENSP00000335529:p.Pro129Leu		B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P129L	ENST00000333973.2	37	c.386	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	c	19.91	3.914300	0.72983	.	.	ENSG00000186117	ENST00000333973	T	0.01902	4.57	4.18	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000124	T	0.15522	0.0374	M	0.94101	3.495	0.52099	D	0.999942	D	0.71674	0.998	D	0.69307	0.963	T	0.01030	-1.1475	10	0.87932	D	0	-15.775	11.0238	0.47732	0.0:0.905:0.0:0.095	.	129	Q8NGL2	OR5L1_HUMAN	L	129	ENSP00000335529:P129L	ENSP00000335529:P129L	P	+	2	0	OR5L1	55335904	1.000000	0.71417	0.004000	0.12327	0.132000	0.20833	5.674000	0.68117	0.730000	0.32425	0.435000	0.28638	CCT	-	OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.507	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	0	0		53	53		0.00		C	NM_001004738		55579328	+1	35		59		tier1	no_errors	ENST00000333973	ensembl	human	known	74_37	missense	37.23		SNP	0.978	T	35	59
ZNF767P	79970	genome.wustl.edu	37	7	149250006	149250006	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149250006G>A	ENST00000463567.1	-	0	933					NR_027788.1		Q75MW2	ZN767_HUMAN												central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			acaagagatggaaagaatgtc	0.502													ENSG00000133624																																					0																																												0			-																													7.37:g.149250006G>A			D3DWG6|Q86WY4|Q9H9J3	R	SNP	-	NULL	ENST00000463567.1	37	NULL		7																																																																																			-	ZNF767	-	-		0.502	ZNF767-001	KNOWN	basic	processed_transcript	ZNF767	HGNC	pseudogene	OTTHUMT00000352753.2	0	0		55	55		0.00		G			149250006	-1	14		62		tier1	no_errors	ENST00000463567	ensembl	human	known	74_37	rna	18.42		SNP	0.008	A	14	62
KIAA0195	9772	genome.wustl.edu	37	17	73489030	73489030	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73489030G>A	ENST00000314256.7	+	16	2327	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	KIAA0195_ENST00000579208.1_Missense_Mutation_p.E296K|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E655K	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	645						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGGGCCAAGGAGCTTTTCAA	0.607													ENSG00000177728																																					0													76.0	82.0	80.0					17																	73489030		2203	4300	6503	SO:0001583	missense	0			-		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1933G>A	17.37:g.73489030G>A	ENSP00000313885:p.Glu645Lys		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.E645K	ENST00000314256.7	37	c.1933	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204214	0.58234	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.87491	-2.26;-2.26	5.73	4.76	0.60689	.	0.096375	0.64402	D	0.000001	T	0.81941	0.4929	L	0.34521	1.04	0.58432	D	0.999999	B;P;P	0.38504	0.18;0.634;0.501	B;B;B	0.39379	0.081;0.298;0.156	T	0.78797	-0.2063	10	0.20519	T	0.43	-31.8602	16.1586	0.81681	0.0:0.0:0.8654:0.1346	.	655;655;645	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	K	645;655	ENSP00000313885:E645K;ENSP00000364397:E655K	ENSP00000313885:E645K	E	+	1	0	KIAA0195	71000625	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.727000	0.98787	1.420000	0.47138	0.561000	0.74099	GAG	-	KIAA0195	-	NULL		0.607	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	0	0		63	63		0.00		G	NM_014738		73489030	+1	27		50		tier1	no_errors	ENST00000314256	ensembl	human	known	74_37	missense	35.06		SNP	1.000	A	27	50
OR52N2	390077	genome.wustl.edu	37	11	5841994	5841994	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5841994C>T	ENST00000317037.2	+	1	451	c.429C>T	c.(427-429)atC>atT	p.I143I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCTGTCATCGCCAAGGCTG	0.572													ENSG00000180988																																					0													158.0	128.0	138.0					11																	5841994		2201	4296	6497	SO:0001819	synonymous_variant	0			-	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.429C>T	11.37:g.5841994C>T			Q6IFF9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I143	ENST00000317037.2	37	c.429	CCDS31399.1	11																																																																																			-	OR52N2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.572	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N2	HGNC	protein_coding	OTTHUMT00000401143.1	0	0		49	49		0.00		C	NM_001005174		5841994	+1	7		55		tier1	no_errors	ENST00000317037	ensembl	human	known	74_37	silent	11.29		SNP	0.001	T	7	55
GPR179	440435	genome.wustl.edu	37	17	36484307	36484307	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:36484307C>T	ENST00000342292.4	-	11	5165	c.5145G>A	c.(5143-5145)gaG>gaA	p.E1715E	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1715					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGCCCTTTCCTCCCCTGCTC	0.537													ENSG00000188888																																					0													73.0	76.0	75.0					17																	36484307		1950	4155	6105	SO:0001819	synonymous_variant	0			-		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5145G>A	17.37:g.36484307C>T				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.E1715	ENST00000342292.4	37	c.5145	CCDS42308.1	17																																																																																			-	GPR179	-	NULL		0.537	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	0	0		30	30		0.00		C			36484307	-1	10		30		tier1	no_errors	ENST00000342292	ensembl	human	known	74_37	silent	25.00		SNP	0.031	T	10	30
RALGAPB	57148	genome.wustl.edu	37	20	37202836	37202836	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:37202836C>T	ENST00000262879.6	+	29	4470	c.4186C>T	c.(4186-4188)Cct>Tct	p.P1396S	RALGAPB_ENST00000397038.1_Missense_Mutation_p.P1175S|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1393S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1396S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1396					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTTCATCCACCCTTTAAACAC	0.413													ENSG00000170471																																					0													76.0	87.0	83.0					20																	37202836		2203	4300	6503	SO:0001583	missense	0			-	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4186C>T	20.37:g.37202836C>T	ENSP00000262879:p.Pro1396Ser		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.P1396S	ENST00000262879.6	37	c.4186	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619533	0.66787	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	6.02	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.91150	0.7213	L	0.36672	1.1	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.17722	0.019;0.019	D	0.87336	0.2328	10	0.39692	T	0.17	.	15.1629	0.72798	0.0:0.9326:0.0:0.0674	.	1393;1396	A2A2E9;Q86X10	.;RLGPB_HUMAN	S	1396;1393;1175;1396;1225	ENSP00000262879:P1396S;ENSP00000380235:P1393S;ENSP00000380231:P1175S;ENSP00000380233:P1396S;ENSP00000416646:P1225S	ENSP00000262879:P1396S	P	+	1	0	RALGAPB	36636250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.551000	0.49450	0.655000	0.94253	CCT	-	RALGAPB	-	NULL		0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	0	0		45	45		0.00		C	NM_020336		37202836	+1	24		36		tier1	no_errors	ENST00000262879	ensembl	human	known	74_37	missense	40.00		SNP	1.000	T	24	36
PSMB6	5694	genome.wustl.edu	37	17	4701409	4701409	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:4701409G>A	ENST00000270586.3	+	5	589	c.538G>A	c.(538-540)Ggc>Agc	p.G180S		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	180					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)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CTACCGGGAAGGCATGACCAA	0.542													ENSG00000142507																																					0													109.0	96.0	100.0					17																	4701409		2203	4300	6503	SO:0001583	missense	0			-	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.538G>A	17.37:g.4701409G>A	ENSP00000270586:p.Gly180Ser		Q96J55	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.G180S	ENST00000270586.3	37	c.538	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611428	0.87258	.	.	ENSG00000142507	ENST00000270586	T	0.34667	1.35	5.03	5.03	0.67393	.	0.116186	0.64402	D	0.000018	T	0.56031	0.1958	M	0.84326	2.69	0.48696	D	0.999693	P	0.50943	0.94	P	0.55161	0.77	T	0.60959	-0.7159	10	0.56958	D	0.05	-27.8743	13.7397	0.62840	0.0:0.0:1.0:0.0	.	180	P28072	PSB6_HUMAN	S	180	ENSP00000270586:G180S	ENSP00000270586:G180S	G	+	1	0	PSMB6	4648367	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.938000	0.75904	2.607000	0.88179	0.561000	0.74099	GGC	-	PSMB6	-	pfam_Proteasome_sua/b,prints_Pept_T1A_subB		0.542	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2	0	0		37	37		0.00		G	NM_002798		4701409	+1	17		65		tier1	no_errors	ENST00000270586	ensembl	human	known	74_37	missense	20.73		SNP	1.000	A	17	65
CSMD1	64478	genome.wustl.edu	37	8	3216839	3216839	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:3216839C>T	ENST00000520002.1	-	22	3697	c.3142G>A	c.(3142-3144)Gat>Aat	p.D1048N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D1047N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1047N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1047N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1048N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D1048N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1048N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1048	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCCAGGATCATCACATGGC	0.438													ENSG00000183117																																					0													50.0	54.0	53.0					8																	3216839		2178	4297	6475	SO:0001583	missense	0			-			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3142G>A	8.37:g.3216839C>T	ENSP00000430733:p.Asp1048Asn		Q0H0J5|Q96QU9|Q96RM4	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.D1048N	ENST00000520002.1	37	c.3142		8	.	.	.	.	.	.	.	.	.	.	c	28.8	4.949258	0.92660	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.24	5.24	0.73138	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	L	0.41906	1.305	0.80722	D	1	D;P;P	0.89917	1.0;0.742;0.697	D;P;B	0.87578	0.998;0.597;0.365	T	0.71094	-0.4692	10	0.36615	T	0.2	.	18.8469	0.92210	0.0:1.0:0.0:0.0	.	1048;1048;1048	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	N	1048;1048;910;1047;1047;1047	ENSP00000383047:D1048N;ENSP00000430733:D1048N;ENSP00000441462:D1047N;ENSP00000446243:D1047N;ENSP00000441675:D1047N	ENSP00000320445:D910N	D	-	1	0	CSMD1	3204246	1.000000	0.71417	0.621000	0.29145	0.877000	0.50540	7.612000	0.82975	2.432000	0.82394	0.550000	0.68814	GAT	-	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	0	0		50	50		0.00		C	NM_033225		3216839	-1	19		65		tier1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	22.62		SNP	1.000	T	19	65
GPR126	57211	genome.wustl.edu	37	6	142737080	142737080	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:142737080C>T	ENST00000230173.6	+	20	3293	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	GPR126_ENST00000296932.8_Silent_p.F911F|GPR126_ENST00000367609.3_Silent_p.F939F|GPR126_ENST00000367608.2_Silent_p.F911F	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	939					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TGTTGCATTTCTTCCTTCTGG	0.448													ENSG00000112414																																					0													213.0	204.0	207.0					6																	142737080		1967	4161	6128	SO:0001819	synonymous_variant	0			-	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2817C>T	6.37:g.142737080C>T			Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F939	ENST00000230173.6	37	c.2817	CCDS47490.1	6																																																																																			-	GPR126	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.448	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	0	0		43	43		0.00		C			142737080	+1	23		47		tier1	no_errors	ENST00000367609	ensembl	human	known	74_37	silent	32.86		SNP	1.000	T	23	47
GPR98	84059	genome.wustl.edu	37	5	89969915	89969915	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:89969915T>G	ENST00000405460.2	+	23	5070	c.4974T>G	c.(4972-4974)aaT>aaG	p.N1658K	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1658	Calx-beta 11. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGAACTTAATGAGTATTTCC	0.378													ENSG00000164199																																					0													120.0	111.0	114.0					5																	89969915		1871	4105	5976	SO:0001583	missense	0			-	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4974T>G	5.37:g.89969915T>G	ENSP00000384582:p.Asn1658Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N1658K	ENST00000405460.2	37	c.4974	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179433	0.38511	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29655	1.56	5.07	3.9	0.45041	Na-Ca exchanger/integrin-beta4 (1);	0.327491	0.37530	N	0.002042	T	0.43478	0.1249	L	0.55481	1.735	0.80722	D	1	D	0.56521	0.976	D	0.67231	0.95	T	0.27157	-1.0082	10	0.48119	T	0.1	.	6.1775	0.20451	0.1425:0.0764:0.0:0.7811	.	1658	Q8WXG9	GPR98_HUMAN	K	1658	ENSP00000384582:N1658K	ENSP00000296619:N1658K	N	+	3	2	GPR98	90005671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.032000	0.30178	0.882000	0.36016	0.454000	0.30748	AAT	-	GPR98	-	pfam_Calx_beta		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	0	0		45	45		0.00		T	NM_032119		89969915	+1	10		55		tier1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	15.38		SNP	0.998	G	10	55
RPS20	6224	genome.wustl.edu	37	8	56986679	56986679	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:56986679C>T	ENST00000521262.1	-	2	296	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	RPS20_ENST00000524349.1_De_novo_Start_InFrame|RPS20_ENST00000518875.1_Missense_Mutation_p.V15M|RPS20_ENST00000519807.1_Missense_Mutation_p.V15M|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000523936.1_Missense_Mutation_p.V15M|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000009589.3_Missense_Mutation_p.V15M|RPS20_ENST00000519606.1_Missense_Mutation_p.V15M|RPS20_ENST00000520490.1_5'UTR			P60866	RS20_HUMAN	ribosomal protein S20	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			TGAATTGCCACCTCCGGCTCC	0.468													ENSG00000008988																																					0													69.0	73.0	72.0					8																	56986679		2203	4300	6503	SO:0001583	missense	0			-	L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.43G>A	8.37:g.56986679C>T	ENSP00000427788:p.Val15Met		B2R4F4|B4DW28|P17075|Q5M8S9	Missense_Mutation	SNP	pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc	p.V15M	ENST00000521262.1	37	c.43		8	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560468	0.45590	.	.	ENSG00000008988	ENST00000519807;ENST00000009589;ENST00000521262;ENST00000523936;ENST00000519606;ENST00000518875	.	.	.	5.04	5.04	0.67666	.	0.063959	0.64402	D	0.000008	T	0.63129	0.2485	M	0.69358	2.11	0.80722	D	1	B;B	0.19445	0.003;0.036	B;B	0.14578	0.01;0.011	T	0.62101	-0.6925	9	0.06891	T	0.86	-31.362	18.4055	0.90535	0.0:1.0:0.0:0.0	.	15;15	P60866;B4DW28	RS20_HUMAN;.	M	15	.	ENSP00000009589:V15M	V	-	1	0	RPS20	57149233	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	7.575000	0.82447	2.349000	0.79799	0.563000	0.77884	GTG	-	RPS20	-	NULL		0.468	RPS20-003	KNOWN	basic|appris_principal	protein_coding	RPS20	HGNC	protein_coding	OTTHUMT00000378166.1	0	0		80	80		0.00		C	NM_001023		56986679	-1	45		74		tier1	no_errors	ENST00000009589	ensembl	human	known	74_37	missense	37.82		SNP	1.000	T	45	74
OGT	8473	genome.wustl.edu	37	X	70787569	70787569	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70787569C>T	ENST00000373719.3	+	20	3026	c.2809C>T	c.(2809-2811)Ctc>Ttc	p.L937F	OGT_ENST00000373701.3_Missense_Mutation_p.L927F	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	937					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GATGGATGTCCTCTGGGCAGG	0.517													ENSG00000147162																																					0													70.0	52.0	58.0					X																	70787569		2203	4300	6503	SO:0001583	missense	0			-	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2809C>T	X.37:g.70787569C>T	ENSP00000362824:p.Leu937Phe		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L937F	ENST00000373719.3	37	c.2809	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251952	0.80135	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	D;D	0.87179	-2.22;-2.22	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.97274	0.9913	10	0.62326	D	0.03	-6.1297	17.3502	0.87321	0.0:1.0:0.0:0.0	.	811;927;937	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	F	937;927	ENSP00000362824:L937F;ENSP00000362805:L927F	ENSP00000362805:L927F	L	+	1	0	OGT	70704294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.906000	0.69900	2.279000	0.76181	0.544000	0.68410	CTC	-	OGT	-	NULL		0.517	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	0	0		19	19		0.00		C	NM_003605, NM_181672		70787569	+1	16		16		tier1	no_errors	ENST00000373719	ensembl	human	known	74_37	missense	50.00		SNP	1.000	T	16	16
COL24A1	255631	genome.wustl.edu	37	1	86590696	86590696	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:86590696C>T	ENST00000370571.2	-	3	1689	c.1323G>A	c.(1321-1323)gtG>gtA	p.V441V	COL24A1_ENST00000436319.1_Silent_p.V441V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	441					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)			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)		GGTGATTATCCACAGATGGCT	0.353													ENSG00000171502																																					0													125.0	108.0	114.0					1																	86590696		1868	4103	5971	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.1323G>A	1.37:g.86590696C>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.V441	ENST00000370571.2	37	c.1323	CCDS41353.1	1																																																																																			-	COL24A1	-	NULL		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	0	0		71	71		0.00		C	NM_152890		86590696	-1	22		38		tier1	no_errors	ENST00000370571	ensembl	human	known	74_37	silent	36.67		SNP	0.992	T	22	38
PALD1	27143	genome.wustl.edu	37	10	72289798	72289798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:72289798C>T	ENST00000263563.6	+	4	710	c.442C>T	c.(442-444)Cag>Tag	p.Q148*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	148						cytosol (GO:0005829)		p.Q148*(1)									GCGGGTCCTCCAGAAACTCCA	0.632													ENSG00000107719																																					1	Substitution - Nonsense(1)	lung(1)											45.0	45.0	45.0					10																	72289798		2203	4300	6503	SO:0001587	stop_gained	0			-	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.442C>T	10.37:g.72289798C>T	ENSP00000263563:p.Gln148*		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Nonsense_Mutation	SNP	smart_Tyr_Pase_cat	p.Q148*	ENST00000263563.6	37	c.442	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	C	40	7.968806	0.98588	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	.	.	.	5.34	5.34	0.76211	.	0.055848	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-26.3177	19.0411	0.92999	0.0:1.0:0.0:0.0	.	.	.	.	X	148	.	ENSP00000263563:Q148X	Q	+	1	0	KIAA1274	71959804	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.788000	0.69020	2.673000	0.90976	0.557000	0.71058	CAG	-	PALD1	-	NULL		0.632	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	0	0		47	47		0.00		C	NM_014431		72289798	+1	12		46		tier1	no_errors	ENST00000263563	ensembl	human	known	74_37	nonsense	20.69		SNP	1.000	T	12	46
PABPC3	5042	genome.wustl.edu	37	13	25672009	25672009	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:25672009G>A	ENST00000281589.3	+	1	1710	c.1673G>A	c.(1672-1674)gGt>gAt	p.G558D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	558	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAAATGTTAGGTGAACGGCTC	0.438													ENSG00000151846																																					0													119.0	108.0	111.0					13																	25672009		2203	4300	6503	SO:0001583	missense	0			-	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1673G>A	13.37:g.25672009G>A	ENSP00000281589:p.Gly558Asp		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G558D	ENST00000281589.3	37	c.1673	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897804	0.33535	.	.	ENSG00000151846	ENST00000281589	D	0.87729	-2.29	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.000000	0.48286	U	0.000195	D	0.94565	0.8249	H	0.97635	4.045	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.92908	0.6345	10	0.87932	D	0	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	558	Q9H361	PABP3_HUMAN	D	558	ENSP00000281589:G558D	ENSP00000281589:G558D	G	+	2	0	PABPC3	24570009	1.000000	0.71417	0.948000	0.38648	0.174000	0.22865	6.590000	0.74085	0.759000	0.33084	0.313000	0.20887	GGT	-	PABPC3	-	pfam_PABP_HYD,superfamily_PABP_HYD,smart_PABP_HYD,tigrfam_PABP_1234		0.438	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	0	0		79	79		0.00		G	NM_030979		25672009	+1	15		60		tier1	no_errors	ENST00000281589	ensembl	human	known	74_37	missense	20.00		SNP	1.000	A	15	60
RHOA	387	genome.wustl.edu	37	3	49413014	49413014	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49413014G>A	ENST00000418115.1	-	2	393	c.9C>T	c.(7-9)gcC>gcT	p.A3A	RHOA_ENST00000454011.2_Silent_p.A3A|RHOA_ENST00000422781.1_Silent_p.A3A	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	3					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCTTCCGGATGGCAGCCATTG	0.473													ENSG00000067560																																					0													99.0	92.0	94.0					3																	49413014		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.9C>T	3.37:g.49413014G>A			P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A3	ENST00000418115.1	37	c.9	CCDS2795.1	3																																																																																			-	RHOA	-	superfamily_P-loop_NTPase		0.473	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	0	0		51	51		0.00		G	NM_001664		49413014	-1	11		43		tier1	no_errors	ENST00000418115	ensembl	human	known	74_37	silent	20.37		SNP	1.000	A	11	43
LOC442028	442028	genome.wustl.edu	37	2	95601090	95601090	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:95601090C>T	ENST00000568768.1	-	0	157																											CTTCAAGACTCTCTTGTAAAT	0.353													ENSG00000259848																																					0																																												0			-																													2.37:g.95601090C>T				R	SNP	-	NULL	ENST00000568768.1	37	NULL		2																																																																																			-	AC097374.2	-	-		0.353	AC097374.2-003	KNOWN	basic	processed_transcript	LOC101929518	Clone_based_vega_gene	pseudogene	OTTHUMT00000431504.1	0	0		315	315		0.00		C			95601090	-1	138		259		tier1	no_errors	ENST00000568768	ensembl	human	known	74_37	rna	34.67		SNP	0.356	T	138	259
USH1G	124590	genome.wustl.edu	37	17	72915934	72915934	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:72915934C>T	ENST00000319642.1	-	2	1179	c.997G>A	c.(997-999)Gat>Aat	p.D333N		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	333					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGACCCCCATCCTCGCGGCCC	0.682													ENSG00000182040																																					0													48.0	59.0	55.0					17																	72915934		2203	4298	6501	SO:0001583	missense	0			-	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.997G>A	17.37:g.72915934C>T	ENSP00000320076:p.Asp333Asn		Q8N251	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D333N	ENST00000319642.1	37	c.997	CCDS32725.1	17	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009252	0.35415	.	.	ENSG00000182040	ENST00000319642	T	0.70516	-0.49	4.34	4.34	0.51931	.	0.292019	0.36591	N	0.002503	T	0.54791	0.1880	N	0.19112	0.55	0.43489	D	0.995721	B	0.02656	0.0	B	0.04013	0.001	T	0.51164	-0.8740	10	0.11485	T	0.65	-27.2304	17.0851	0.86609	0.0:1.0:0.0:0.0	.	333	Q495M9	USH1G_HUMAN	N	333	ENSP00000320076:D333N	ENSP00000320076:D333N	D	-	1	0	USH1G	70427529	0.999000	0.42202	0.952000	0.39060	0.898000	0.52572	4.630000	0.61297	2.275000	0.75901	0.555000	0.69702	GAT	-	USH1G	-	NULL		0.682	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	0	0		65	65		0.00		C	NM_173477		72915934	-1	12		74		tier1	no_errors	ENST00000319642	ensembl	human	known	74_37	missense	13.95		SNP	1.000	T	12	74
MRVI1	10335	genome.wustl.edu	37	11	10673657	10673657	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:10673657G>A	ENST00000436272.1	-	1	191	c.113C>T	c.(112-114)tCc>tTc	p.S38F	MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.S38F|MRVI1_ENST00000423302.2_Missense_Mutation_p.S47F|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.S38F|MRVI1_ENST00000541483.1_Missense_Mutation_p.S47F|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	38					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCCTGCTGGGAGTGGCCACG	0.667													ENSG00000072952																																					0													17.0	23.0	21.0					11																	10673657		2017	4178	6195	SO:0001583	missense	0			-	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.113C>T	11.37:g.10673657G>A	ENSP00000412229:p.Ser38Phe		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.S38F	ENST00000436272.1	37	c.113		11	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785160	0.70222	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000423302;ENST00000541483;ENST00000531107	T;T;T;T;T	0.22945	2.64;2.62;2.45;1.93;2.64	5.26	3.39	0.38822	.	0.324208	0.22564	N	0.058432	T	0.33030	0.0849	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.995;0.997	D;D;D;D	0.78314	0.991;0.979;0.979;0.991	T	0.07908	-1.0748	10	0.87932	D	0	-4.2872	7.4848	0.27425	0.191:0.0:0.809:0.0	.	47;38;38;38	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	F	38;38;38;47;47;38	ENSP00000414598:S38F;ENSP00000412229:S38F;ENSP00000412130:S47F;ENSP00000437784:S47F;ENSP00000432436:S38F	ENSP00000307885:S38F	S	-	2	0	MRVI1	10630233	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	2.239000	0.43079	0.789000	0.33779	0.655000	0.94253	TCC	-	MRVI1	-	NULL		0.667	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		0	0		58	58		0.00		G	NM_001098579		10673657	-1	18		52		tier1	no_errors	ENST00000421747	ensembl	human	known	74_37	missense	25.71		SNP	0.992	A	18	52
C6orf58	352999	genome.wustl.edu	37	6	127898407	127898407	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:127898407C>T	ENST00000329722.7	+	1	89	c.77C>T	c.(76-78)tCa>tTa	p.S26L	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	26						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TCCAATCTCTCAGAGACAGAG	0.498													ENSG00000184530																																					0													122.0	125.0	124.0					6																	127898407		2203	4300	6503	SO:0001583	missense	0			-	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.77C>T	6.37:g.127898407C>T	ENSP00000328069:p.Ser26Leu		B4E1I0|Q5VUP2	Missense_Mutation	SNP	pfam_DUF781	p.S26L	ENST00000329722.7	37	c.77	CCDS34533.1	6	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570719	0.65765	.	.	ENSG00000184530	ENST00000329722	T	0.46451	0.87	5.24	4.34	0.51931	.	0.982953	0.08323	N	0.963575	T	0.45357	0.1338	M	0.75447	2.3	0.09310	N	1	P	0.50943	0.94	P	0.54026	0.74	T	0.28650	-1.0037	10	0.56958	D	0.05	-2.8543	11.235	0.48936	0.1818:0.8182:0.0:0.0	.	26	Q6P5S2	CF058_HUMAN	L	26	ENSP00000328069:S26L	ENSP00000328069:S26L	S	+	2	0	C6orf58	127940100	0.001000	0.12720	0.034000	0.17996	0.050000	0.14768	0.267000	0.18552	2.458000	0.83093	0.655000	0.94253	TCA	-	C6orf58	-	pfam_DUF781		0.498	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	HGNC	protein_coding	OTTHUMT00000042152.1	0	0		74	74		0.00		C	NM_001010905		127898407	+1	28		46		tier1	no_errors	ENST00000329722	ensembl	human	known	74_37	missense	37.84		SNP	0.006	T	28	46
AHDC1	27245	genome.wustl.edu	37	1	27873850	27873850	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:27873850G>A	ENST00000247087.5	-	5	5373	c.4777C>T	c.(4777-4779)Cac>Tac	p.H1593Y	AHDC1_ENST00000374011.2_Missense_Mutation_p.H1593Y			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1593							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCCTCGGGGTGAGGTTCCGCC	0.647													ENSG00000126705																																					0													75.0	92.0	86.0					1																	27873850		2203	4300	6503	SO:0001583	missense	0			-	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4777C>T	1.37:g.27873850G>A	ENSP00000247087:p.His1593Tyr		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	NULL	p.H1593Y	ENST00000247087.5	37	c.4777	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778178	0.31502	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50277	0.75;0.75	5.48	5.48	0.80851	.	0.500084	0.18524	N	0.138675	T	0.43545	0.1252	N	0.19112	0.55	0.30195	N	0.79912	D	0.56968	0.978	P	0.50754	0.649	T	0.46911	-0.9157	10	0.62326	D	0.03	-4.9431	13.1237	0.59342	0.0:0.0:0.8396:0.1604	.	1593	Q5TGY3	AHDC1_HUMAN	Y	1593	ENSP00000247087:H1593Y;ENSP00000363123:H1593Y	ENSP00000247087:H1593Y	H	-	1	0	AHDC1	27746437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.829000	0.62737	2.581000	0.87130	0.563000	0.77884	CAC	-	AHDC1	-	NULL		0.647	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	0	0		59	59		0.00		G			27873850	-1	34		85		tier1	no_errors	ENST00000247087	ensembl	human	known	74_37	missense	28.57		SNP	1.000	A	34	85
PCDHB15	56121	genome.wustl.edu	37	5	140626575	140626575	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140626575G>A	ENST00000231173.3	+	1	1429	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	477	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGCCACAGACAGAGACTC	0.647													ENSG00000113248																																					0													66.0	76.0	72.0					5																	140626575		2203	4289	6492	SO:0001583	missense	0			-	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1429G>A	5.37:g.140626575G>A	ENSP00000231173:p.Asp477Asn		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D477N	ENST00000231173.3	37	c.1429	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844536	0.91197	.	.	ENSG00000113248	ENST00000231173	T	0.74526	-0.85	4.52	4.52	0.55395	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92786	0.7706	H	0.99650	4.68	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	D	0.96377	0.9278	9	0.87932	D	0	.	17.282	0.87131	0.0:0.0:1.0:0.0	.	477	Q9Y5E8	PCDBF_HUMAN	N	477	ENSP00000231173:D477N	ENSP00000231173:D477N	D	+	1	0	PCDHB15	140606759	1.000000	0.71417	0.957000	0.39632	0.988000	0.76386	6.638000	0.74309	2.251000	0.74343	0.485000	0.47835	GAC	-	PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.647	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	0	0		116	116		0.00		G	NM_018935		140626575	+1	50		134		tier1	no_errors	ENST00000231173	ensembl	human	known	74_37	missense	27.17		SNP	0.999	A	50	134
MEGF6	1953	genome.wustl.edu	37	1	3407118	3407118	+	Silent	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:3407118G>T	ENST00000356575.4	-	37	4826	c.4600C>A	c.(4600-4602)Cgg>Agg	p.R1534R	MEGF6_ENST00000294599.4_Silent_p.R1222R|RP11-168F9.2_ENST00000606489.1_lincRNA	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1534						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCACCGCTCCGGGATGTGGGT	0.657													ENSG00000162591																									Ovarian(73;978 3658)												0													33.0	41.0	38.0					1																	3407118		1964	4143	6107	SO:0001819	synonymous_variant	0			-	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4600C>A	1.37:g.3407118G>T			Q4AC86|Q5VV39	Silent	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R1534	ENST00000356575.4	37	c.4600	CCDS41237.1	1																																																																																			-	MEGF6	-	NULL		0.657	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	0	0		60	60		0.00		G	NM_001409		3407118	-1	16		72		tier1	no_errors	ENST00000356575	ensembl	human	known	74_37	silent	18.18		SNP	0.000	T	16	72
POTEE	445582	genome.wustl.edu	37	2	132021885	132021885	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:132021885G>A	ENST00000356920.5	+	15	2951	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	953	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CATCGGCAACGAGCGGTTCCG	0.602													ENSG00000188219																																					0													12.0	14.0	14.0					2																	132021885		1471	3003	4474	SO:0001583	missense	0			-	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2857G>A	2.37:g.132021885G>A	ENSP00000439189:p.Glu953Lys		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.E953K	ENST00000356920.5	37	c.2857	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	17.61	3.433426	0.62844	.	.	ENSG00000188219	ENST00000356920	D	0.95205	-3.64	.	.	.	.	.	.	.	.	D	0.97807	0.9280	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95231	0.8342	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	953	Q6S8J3	POTEE_HUMAN	K	953	ENSP00000439189:E953K	ENSP00000439189:E953K	E	+	1	0	AC131180.1	131738355	1.000000	0.71417	0.189000	0.23252	0.192000	0.23643	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GAG	-	POTEE	-	pfam_Actin-related,smart_Actin-related		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		0	0		91	91		0.00		G	NM_001083538		132021885	+1	15		126		tier1	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	10.64		SNP	1.000	A	15	126
COX7C	1350	genome.wustl.edu	37	5	85916521	85916521	+	3'UTR	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:85916521G>T	ENST00000509578.1	+	0	1527				COX7C_ENST00000515763.1_3'UTR|COX7C_ENST00000513124.1_3'UTR|MIR3607_ENST00000362392.1_RNA|COX7C_ENST00000247655.3_3'UTR			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc						cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		GCCTCTGGAAGTGGATCAAAC	0.313													ENSG00000127184																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.*1235G>T	5.37:g.85916521G>T			Q6NR81	R	SNP	-	NULL	ENST00000509578.1	37	NULL	CCDS4063.1	5																																																																																			-	COX7C	-	-		0.313	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	COX7C	HGNC	protein_coding	OTTHUMT00000369746.1	0	0		13	13		0.00		G	NM_001867		85916521	+1	4		5		tier1	no_errors	ENST00000505430	ensembl	human	known	74_37	rna	44.44		SNP	0.021	T	4	5
SETD1A	9739	genome.wustl.edu	37	16	30976497	30976497	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30976497G>A	ENST00000262519.8	+	7	2120	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	478	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACCAATGAGAGTGTGCCCT	0.642													ENSG00000099381																																					0													37.0	39.0	38.0					16																	30976497		2197	4300	6497	SO:0001819	synonymous_variant	0			-	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1434G>A	16.37:g.30976497G>A			A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.E478	ENST00000262519.8	37	c.1434	CCDS32435.1	16																																																																																			-	SETD1A	-	NULL		0.642	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	0	0		57	57		0.00		G	NM_014712		30976497	+1	14		42		tier1	no_errors	ENST00000262519	ensembl	human	known	74_37	silent	25.00		SNP	1.000	A	14	42
PNPLA2	57104	genome.wustl.edu	37	11	823582	823582	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:823582G>T	ENST00000336615.4	+	6	954	c.752G>T	c.(751-753)cGg>cTg	p.R251L	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	251					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTTCTGCAGCGGAACGGTGCG	0.677													ENSG00000177666																																					0													32.0	30.0	31.0					11																	823582		2194	4297	6491	SO:0001583	missense	0			-	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.752G>T	11.37:g.823582G>T	ENSP00000337701:p.Arg251Leu		O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.R251L	ENST00000336615.4	37	c.752	CCDS7718.1	11	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738648	0.49045	.	.	ENSG00000177666	ENST00000336615	T	0.78481	-1.18	3.73	3.73	0.42828	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.117912	0.52532	D	0.000062	T	0.74183	0.3683	M	0.77313	2.365	0.38347	D	0.944224	P	0.44578	0.838	B	0.39068	0.289	T	0.79945	-0.1589	10	0.72032	D	0.01	-30.1164	8.1237	0.30986	0.1607:0.0:0.8393:0.0	.	251	Q96AD5	PLPL2_HUMAN	L	251	ENSP00000337701:R251L	ENSP00000337701:R251L	R	+	2	0	PNPLA2	813582	1.000000	0.71417	0.993000	0.49108	0.529000	0.34654	1.750000	0.38329	2.092000	0.63282	0.491000	0.48974	CGG	-	PNPLA2	-	superfamily_Acyl_Trfase/lysoPLipase		0.677	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPLA2	HGNC	protein_coding	OTTHUMT00000257106.1	0	0		50	50		0.00		G	NM_020376		823582	+1	33		76		tier1	no_errors	ENST00000336615	ensembl	human	known	74_37	missense	30.00		SNP	1.000	T	33	76
DDX60L	91351	genome.wustl.edu	37	4	169327143	169327143	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:169327143C>T	ENST00000511577.1	-	24	3418	c.3171G>A	c.(3169-3171)aaG>aaA	p.K1057K	DDX60L_ENST00000505890.1_Silent_p.K1057K|DDX60L_ENST00000260184.7_Silent_p.K1057K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1057							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAATTCTGCCTTTAAGTTTT	0.323													ENSG00000181381																																					0													128.0	112.0	117.0					4																	169327143		1836	4120	5956	SO:0001819	synonymous_variant	0			-	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3171G>A	4.37:g.169327143C>T			Q96ND6	Silent	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1057	ENST00000511577.1	37	c.3171		4																																																																																			-	DDX60L	-	superfamily_P-loop_NTPase		0.323	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	0	0		90	90		0.00		C	NM_001012967		169327143	-1	48		60		tier1	no_errors	ENST00000260184	ensembl	human	known	74_37	silent	44.44		SNP	0.998	T	48	60
KCNS3	3790	genome.wustl.edu	37	2	18112493	18112493	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:18112493C>T	ENST00000403915.1	+	3	669	c.218C>T	c.(217-219)cCc>cTc	p.P73L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.P73L	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	73					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)					GATCGGAATCCCTCCTTGTTC	0.468													ENSG00000170745																																					0													126.0	126.0	126.0					2																	18112493		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.218C>T	2.37:g.18112493C>T	ENSP00000385968:p.Pro73Leu		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.P73L	ENST00000403915.1	37	c.218	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832252	0.71258	.	.	ENSG00000170745	ENST00000403915;ENST00000304101;ENST00000419802	T;T;T	0.79845	0.5;0.5;-1.31	5.72	5.72	0.89469	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.049302	0.85682	D	0.000000	D	0.93996	0.8077	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95564	0.8632	10	0.87932	D	0	.	19.8716	0.96853	0.0:1.0:0.0:0.0	.	73	Q9BQ31	KCNS3_HUMAN	L	73	ENSP00000385968:P73L;ENSP00000305824:P73L;ENSP00000400098:P73L	ENSP00000305824:P73L	P	+	2	0	KCNS3	17975974	1.000000	0.71417	0.996000	0.52242	0.721000	0.41392	7.818000	0.86416	2.704000	0.92352	0.563000	0.77884	CCC	-	KCNS3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3		0.468	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	0	0		69	69		0.00		C	NM_002252		18112493	+1	22		65		tier1	no_errors	ENST00000304101	ensembl	human	known	74_37	missense	25.29		SNP	1.000	T	22	65
CSF1R	1436	genome.wustl.edu	37	5	149460368	149460368	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149460368G>A	ENST00000286301.3	-	3	560	c.269C>T	c.(268-270)cCc>cTc	p.P90L	CSF1R_ENST00000543093.1_Missense_Mutation_p.P90L	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	90	Ig-like C2-type 1.				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)	GCCTCCCAGGGGGTCTCCAGG	0.617													ENSG00000182578																																					0													84.0	61.0	69.0					5																	149460368		2203	4300	6503	SO:0001583	missense	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.269C>T	5.37:g.149460368G>A	ENSP00000286301:p.Pro90Leu		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.P90L	ENST00000286301.3	37	c.269	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482918	0.26598	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.24908	1.83;1.83	5.17	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.767139	0.11686	N	0.539377	T	0.32675	0.0837	L	0.56769	1.78	0.09310	N	1	D;P;P	0.54601	0.967;0.911;0.554	P;P;B	0.48270	0.572;0.494;0.159	T	0.11542	-1.0583	10	0.45353	T	0.12	.	9.8363	0.40971	0.0958:0.0:0.9042:0.0	.	90;90;90	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	L	90	ENSP00000286301:P90L;ENSP00000445282:P90L	ENSP00000286301:P90L	P	-	2	0	CSF1R	149440561	0.082000	0.21442	0.195000	0.23364	0.332000	0.28634	1.400000	0.34577	1.316000	0.45131	0.655000	0.94253	CCC	-	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	0	0		26	26		0.00		G	NM_005211		149460368	-1	17		45		tier1	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	27.42		SNP	0.048	A	17	45
ARHGEF10L	55160	genome.wustl.edu	37	1	18023601	18023601	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:18023601C>T	ENST00000361221.3	+	29	3725	c.3566C>T	c.(3565-3567)tCc>tTc	p.S1189F	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S1150F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S1150F|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S892F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S962F	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1189						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCGCTGCTCTCCATGCGGGAG	0.677													ENSG00000074964																																					0													13.0	14.0	14.0					1																	18023601		2187	4280	6467	SO:0001583	missense	0			-	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3566C>T	1.37:g.18023601C>T	ENSP00000355060:p.Ser1189Phe		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.S1189F	ENST00000361221.3	37	c.3566	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805399	0.70682	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T	0.63913	0.19;0.22;0.22;-0.07;2.2	4.74	4.74	0.60224	.	0.080279	0.52532	D	0.000072	T	0.74913	0.3779	L	0.60455	1.87	0.49582	D	0.999802	D;D;D;D;P;D;D	0.76494	0.999;0.999;0.999;0.999;0.48;0.999;0.999	D;D;D;D;B;D;D	0.74023	0.949;0.961;0.982;0.926;0.316;0.982;0.959	T	0.78018	-0.2368	10	0.87932	D	0	-21.8078	14.4327	0.67261	0.0:1.0:0.0:0.0	.	962;962;892;950;1145;1150;1189	Q5VXI4;B4DTL3;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	F	1189;1150;1150;962;962;892	ENSP00000355060:S1189F;ENSP00000399401:S1150F;ENSP00000364564:S1150F;ENSP00000364557:S962F;ENSP00000167825:S892F	ENSP00000167825:S892F	S	+	2	0	ARHGEF10L	17896188	1.000000	0.71417	0.977000	0.42913	0.629000	0.37895	7.156000	0.77453	2.163000	0.67991	0.655000	0.94253	TCC	-	ARHGEF10L	-	NULL		0.677	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	0	0		14	14		0.00		C	NM_018125		18023601	+1	4		12		tier1	no_errors	ENST00000361221	ensembl	human	known	74_37	missense	25.00		SNP	0.994	T	4	12
VSNL1	7447	genome.wustl.edu	37	2	17830793	17830793	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:17830793C>T	ENST00000406397.1	+	3	804	c.279C>T	c.(277-279)tcC>tcT	p.S93S	VSNL1_ENST00000295156.4_Silent_p.S93S|VSNL1_ENST00000404666.2_Silent_p.S93S			P62760	VISL1_HUMAN	visinin-like 1	93	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCATCACCTCCAGGGGCAGCT	0.547													ENSG00000163032																																					0													144.0	134.0	137.0					2																	17830793		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.279C>T	2.37:g.17830793C>T			D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.S93	ENST00000406397.1	37	c.279	CCDS1689.1	2																																																																																			-	VSNL1	-	pfscan_EF_hand_dom,prints_Recoverin		0.547	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSNL1	HGNC	protein_coding	OTTHUMT00000323803.1	0	0		43	43		0.00		C	NM_003385		17830793	+1	17		37		tier1	no_errors	ENST00000295156	ensembl	human	known	74_37	silent	31.48		SNP	0.986	T	17	37
ST18	9705	genome.wustl.edu	37	8	53079527	53079527	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:53079527C>T	ENST00000276480.7	-	11	1772	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	363					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTCTCCCTCTTTTCAGGCC	0.522													ENSG00000147488																																					0													134.0	141.0	138.0					8																	53079527		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1089G>A	8.37:g.53079527C>T			Q17RY1	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.K363	ENST00000276480.7	37	c.1089	CCDS6149.1	8																																																																																			-	ST18	-	NULL		0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	0	0		24	24		0.00		C			53079527	-1	13		18		tier1	no_errors	ENST00000276480	ensembl	human	known	74_37	silent	41.94		SNP	1.000	T	13	18
TTC5	91875	genome.wustl.edu	37	14	20768978	20768978	+	Splice_Site	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:20768978C>A	ENST00000258821.3	-	3	241		c.e3-1			NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5						DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TGGACAGAACCTAAGAGGAAG	0.403													ENSG00000136319																																					0													90.0	91.0	91.0					14																	20768978		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.185-1G>T	14.37:g.20768978C>A			A8MQ18|Q96HF9	Splice_Site	SNP	-	e3-1	ENST00000258821.3	37	c.185-1	CCDS9546.1	14	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797255	0.50208	.	.	ENSG00000136319	ENST00000258821;ENST00000423949;ENST00000553828	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5864	0.87982	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC5	19838818	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	5.852000	0.69488	2.690000	0.91761	0.655000	0.94253	.	-	TTC5	-	-		0.403	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4	0	0		54	54		0.00		C	NM_138376	Intron	20768978	-1	4		40		tier1	no_errors	ENST00000258821	ensembl	human	known	74_37	splice_site	9.09		SNP	1.000	A	4	40
TMPRSS9	360200	genome.wustl.edu	37	19	2416594	2416594	+	Missense_Mutation	SNP	G	G	A	rs549297570		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:2416594G>A	ENST00000332578.3	+	11	1702	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	568	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCCTGGGCGGGAGCCCGGT	0.682													ENSG00000178297	G|||	1	0.000199681	0.0	0.0	5008	,	,		15882	0.001		0.0	False		,,,				2504	0.0																0													39.0	39.0	39.0					19																	2416594		2203	4296	6499	SO:0001583	missense	0			-	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1702G>A	19.37:g.2416594G>A	ENSP00000330264:p.Gly568Arg		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G568R	ENST00000332578.3	37	c.1702	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033285	0.54896	.	.	ENSG00000178297	ENST00000332578	D	0.90261	-2.64	5.17	5.17	0.71159	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000021	D	0.91576	0.7339	L	0.41710	1.295	0.32024	N	0.600378	D	0.89917	1.0	D	0.78314	0.991	D	0.89717	0.3916	10	0.26408	T	0.33	.	10.8166	0.46580	0.0886:0.0:0.9114:0.0	.	568	Q7Z410	TMPS9_HUMAN	R	568	ENSP00000330264:G568R	ENSP00000330264:G568R	G	+	1	0	TMPRSS9	2367594	0.121000	0.22262	0.993000	0.49108	0.467000	0.32768	2.286000	0.43496	2.415000	0.81967	0.484000	0.47621	GGG	-	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.682	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	0	0		25	25		0.00		G	NM_182973		2416594	+1	12		43		tier1	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	21.82		SNP	0.678	A	12	43
ATM	472	genome.wustl.edu	37	11	108153445	108153445	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:108153445G>A	ENST00000452508.2	+	26	3774	c.3585G>A	c.(3583-3585)gaG>gaA	p.E1195E	ATM_ENST00000278616.4_Silent_p.E1195E			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1195					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)	AGGTTTTAGAGAAAGTTTCTG	0.289			"""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)			ENSG00000149311																											yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													82.0	86.0	85.0					11																	108153445		2200	4291	6491	SO:0001819	synonymous_variant	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.3585G>A	11.37:g.108153445G>A			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	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.E1195	ENST00000452508.2	37	c.3585	CCDS31669.1	11																																																																																			-	ATM	-	superfamily_ARM-type_fold		0.289	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	0	0		43	43		0.00		G	NM_000051		108153445	+1	17		25		tier1	no_errors	ENST00000278616	ensembl	human	known	74_37	silent	40.48		SNP	0.359	A	17	25
SPIRE1	56907	genome.wustl.edu	37	18	12463462	12463462	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:12463462G>A	ENST00000409402.4	-	12	1793	c.1526C>T	c.(1525-1527)aCa>aTa	p.T509I	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.T375I|SPIRE1_ENST00000383356.2_Missense_Mutation_p.T336I|SPIRE1_ENST00000309836.5_Missense_Mutation_p.T298I|SPIRE1_ENST00000410092.3_Missense_Mutation_p.T495I	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGGCTGGGGTGTTGATGATAT	0.453													ENSG00000134278																																					0													96.0	91.0	93.0					18																	12463462		2203	4300	6503	SO:0001583	missense	0			-	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1526C>T	18.37:g.12463462G>A	ENSP00000387266:p.Thr509Ile			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.T509I	ENST00000409402.4	37	c.1526	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538108	0.85917	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.49139	0.8;1.45;1.38;0.8;0.79	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.991;0.993;1.0	P;P;D	0.83275	0.845;0.854;0.996	T	0.63042	-0.6725	10	0.35671	T	0.21	-16.4291	19.5527	0.95328	0.0:0.0:1.0:0.0	.	495;298;509	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	I	375;509;495;298;336	ENSP00000407050:T375I;ENSP00000387266:T509I;ENSP00000387226:T495I;ENSP00000309661:T298I;ENSP00000372847:T336I	ENSP00000309661:T298I	T	-	2	0	SPIRE1	12453462	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.259000	0.78381	2.705000	0.92388	0.585000	0.79938	ACA	-	SPIRE1	-	NULL		0.453	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2	0	0		52	52		0.00		G	XM_290818		12463462	-1	31		41		tier1	no_errors	ENST00000409402	ensembl	human	known	74_37	missense	43.06		SNP	1.000	A	31	41
DCAF4	26094	genome.wustl.edu	37	14	73406981	73406981	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:73406981C>T	ENST00000358377.2	+	4	467	c.247C>T	c.(247-249)Cct>Tct	p.P83S	DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000555042.1_Missense_Mutation_p.P83S|DCAF4_ENST00000509153.1_Missense_Mutation_p.P83S|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000353777.3_Missense_Mutation_p.P83S	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	83					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCGCTTGCTCCCTGGACATAA	0.478													ENSG00000119599																																					0													116.0	114.0	115.0					14																	73406981		2203	4300	6503	SO:0001583	missense	0			-	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.247C>T	14.37:g.73406981C>T	ENSP00000351147:p.Pro83Ser		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P83S	ENST00000358377.2	37	c.247	CCDS9809.1	14	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262960	0.80358	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000509153;ENST00000555042	T;T;T;T	0.78707	-0.0;-1.2;-0.39;-0.41	5.37	3.55	0.40652	.	0.155316	0.64402	N	0.000018	T	0.79936	0.4532	L	0.58810	1.83	0.80722	D	1	P;P;D;P;B;D	0.54964	0.829;0.862;0.969;0.915;0.208;0.969	B;P;P;P;B;P	0.53518	0.343;0.539;0.728;0.728;0.048;0.666	T	0.79342	-0.1843	10	0.66056	D	0.02	.	9.948	0.41621	0.0:0.7742:0.0:0.2258	.	83;61;83;83;83;83	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	S	83	ENSP00000351147:P83S;ENSP00000345176:P83S;ENSP00000426178:P83S;ENSP00000452131:P83S	ENSP00000345176:P83S	P	+	1	0	DCAF4	72476734	1.000000	0.71417	0.572000	0.28498	0.983000	0.72400	7.485000	0.81204	0.652000	0.30806	0.655000	0.94253	CCT	-	DCAF4	-	NULL		0.478	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1	0	0		83	83		0.00		C	NM_015604		73406981	+1	12		43		tier1	no_errors	ENST00000358377	ensembl	human	known	74_37	missense	21.82		SNP	1.000	T	12	43
SSTR4	6754	genome.wustl.edu	37	20	23017086	23017086	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:23017086C>T	ENST00000255008.3	+	1	1030	c.966C>T	c.(964-966)ttC>ttT	p.F322F	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	322					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCGATTCTTCCAGCGGGTTC	0.582													ENSG00000132671																									Esophageal Squamous(15;850 1104 16640)												0													70.0	76.0	74.0					20																	23017086		2196	4300	6496	SO:0001819	synonymous_variant	0			-		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.966C>T	20.37:g.23017086C>T			Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.F322	ENST00000255008.3	37	c.966	CCDS42856.1	20																																																																																			-	SSTR4	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt		0.582	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1	0	0		62	62		0.00		C			23017086	+1	10		51		tier1	no_errors	ENST00000255008	ensembl	human	known	74_37	silent	16.39		SNP	1.000	T	10	51
PCNXL3	399909	genome.wustl.edu	37	11	65401773	65401773	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65401773C>T	ENST00000355703.3	+	28	5186	c.4647C>T	c.(4645-4647)tcC>tcT	p.S1549S	PCNXL3_ENST00000531280.1_3'UTR|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1549						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCTGCCCTCCTTTTGTGCTG	0.657													ENSG00000197136																																					0													29.0	36.0	33.0					11																	65401773		2148	4253	6401	SO:0001819	synonymous_variant	0			-	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4647C>T	11.37:g.65401773C>T			Q6MZN8	Silent	SNP	pfam_Pecanex	p.S1549	ENST00000355703.3	37	c.4647	CCDS44650.1	11																																																																																			-	PCNXL3	-	NULL		0.657	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	0	0		17	17		0.00		C	NM_032223		65401773	+1	11		13		tier1	no_errors	ENST00000355703	ensembl	human	known	74_37	silent	45.83		SNP	1.000	T	11	13
ZNF69	7620	genome.wustl.edu	37	19	12016599	12016599	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12016599G>A	ENST00000429654.2	+	4	1527	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	ZNF69_ENST00000340180.5_Intron			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		TCAAAGTCATGAAAGGACACA	0.408													ENSG00000198429																																					0																																										SO:0001583	missense	0			-	X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.1387G>A	19.37:g.12016599G>A	ENSP00000402985:p.Glu463Lys		Q86VA7	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.E463K	ENST00000429654.2	37	c.1387		19	.	.	.	.	.	.	.	.	.	.	g	7.996	0.754375	0.15778	.	.	ENSG00000198429	ENST00000429654	T	0.51071	0.72	0.404	0.404	0.16355	.	.	.	.	.	T	0.34164	0.0888	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28459	-1.0043	5	0.25106	T	0.35	.	.	.	.	.	.	.	.	K	463	ENSP00000402985:E463K	ENSP00000402985:E463K	E	+	1	0	ZNF69	11877599	.	.	0.131000	0.22000	0.265000	0.26407	.	.	0.460000	0.27045	0.194000	0.17425	GAA	-	ZNF69	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	ZNF69	HGNC	protein_coding	OTTHUMT00000344082.1	0	0		61	61		0.00		G	NM_021915		12016599	+1	32		54		tier1	no_errors	ENST00000429654	ensembl	human	known	74_37	missense	37.21		SNP	0.335	A	32	54
PRMT5	10419	genome.wustl.edu	37	14	23396032	23396032	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23396032G>A	ENST00000324366.8	-	5	674				PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000553897.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000216350.8_Intron|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Intron	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)		AACTGCACATGAACAGTCACC	0.438													ENSG00000237054																																					0													120.0	103.0	109.0					14																	23396032		2203	4300	6503	SO:0001627	intron_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.451-9C>T	14.37:g.23396032G>A			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	R	SNP	-	NULL	ENST00000324366.8	37	NULL	CCDS9579.1	14																																																																																			-	PRMT5-AS1	-	-		0.438	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5-AS1	HGNC	protein_coding	OTTHUMT00000071674.3	0	0		46	46		0.00		G			23396032	+1	23		12		tier1	no_errors	ENST00000587245	ensembl	human	known	74_37	rna	65.71		SNP	0.000	A	23	12
SCP2	6342	genome.wustl.edu	37	1	53516325	53516325	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:53516325C>T	ENST00000528311.1	+	15	1646	c.1350C>T	c.(1348-1350)ctC>ctT	p.L450L	SCP2_ENST00000435345.2_Silent_p.L127L|SCP2_ENST00000371514.3_Silent_p.L531L|SCP2_ENST00000407246.2_Silent_p.L507L|SCP2_ENST00000430330.2_Silent_p.L124L|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000371509.4_Silent_p.L487L	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						ACATGGGTCTCGCTATGAAGT	0.368													ENSG00000116171																																					0													127.0	129.0	129.0					1																	53516325		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1350C>T	1.37:g.53516325C>T			A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom	p.L531	ENST00000528311.1	37	c.1593	CCDS53319.1	1																																																																																			-	SCP2	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom		0.368	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	SCP2	HGNC	protein_coding	OTTHUMT00000387558.1	0	0		53	53		0.00		C	NM_002979		53516325	+1	28		45		tier1	no_errors	ENST00000371514	ensembl	human	known	74_37	silent	38.36		SNP	1.000	T	28	45
KRT14	3861	genome.wustl.edu	37	17	39739832	39739832	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39739832C>T	ENST00000167586.6	-	5	1110	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	342	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGCTCAATCTCCAGGTTCTGC	0.612													ENSG00000186847																																					0													80.0	73.0	76.0					17																	39739832		2203	4300	6503	SO:0001583	missense	0			-	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1024G>A	17.37:g.39739832C>T	ENSP00000167586:p.Glu342Lys		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.E342K	ENST00000167586.6	37	c.1024	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035146	0.93575	.	.	ENSG00000186847	ENST00000167586	D	0.89343	-2.5	5.22	5.22	0.72569	Filament (1);	0.000000	0.53938	D	0.000046	D	0.95541	0.8551	M	0.89478	3.035	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96071	0.9046	10	0.87932	D	0	.	19.1487	0.93479	0.0:1.0:0.0:0.0	.	342	P02533	K1C14_HUMAN	K	342	ENSP00000167586:E342K	ENSP00000167586:E342K	E	-	1	0	KRT14	36993358	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.080000	0.71299	2.586000	0.87340	0.655000	0.94253	GAG	-	KRT14	-	pfam_IF,prints_Keratin_I		0.612	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	0	0		44	44		0.00		C	NM_000526		39739832	-1	12		35		tier1	no_errors	ENST00000167586	ensembl	human	known	74_37	missense	25.53		SNP	1.000	T	12	35
OBSCN	84033	genome.wustl.edu	37	1	228506684	228506684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228506684delC	ENST00000422127.1	+	54	14275	c.14231delC	c.(14230-14232)gctfs	p.A4744fs	OBSCN_ENST00000570156.2_Frame_Shift_Del_p.A5701fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.A1863fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.A2378fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.A4744fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4744					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGCCCTGGCTCGGAAACGT	0.687													ENSG00000154358																																					0													16.0	20.0	19.0					1																	228506684		2186	4276	6462	SO:0001589	frameshift_variant	0				AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14231delC	1.37:g.228506684delC	ENSP00000409493:p.Ala4744fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A4744fs	ENST00000422127.1	37	c.14231	CCDS58065.1	1																																																																																				OBSCN	-	NULL		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		0	0		17	17		0.00		C	NM_052843		228506684	+1	9		14		tier1	no_errors	ENST00000422127	ensembl	human	known	74_37	frame_shift_del	39.13		DEL	1.000	-	9	14
APBA1	320	genome.wustl.edu	37	9	72091029	72091029	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:72091029C>T	ENST00000265381.4	-	3	1453	c.1231G>A	c.(1231-1233)Ggt>Agt	p.G411S	RP11-470P21.2_ENST00000429567.2_RNA	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	411	LIN-2/CASK binding.|Pro-rich.				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						GACTCTGCACCCAAGGGGGAG	0.542													ENSG00000107282																																					0													84.0	81.0	82.0					9																	72091029		2203	4300	6503	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.1231G>A	9.37:g.72091029C>T	ENSP00000265381:p.Gly411Ser		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.G411S	ENST00000265381.4	37	c.1231	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151936	0.78001	.	.	ENSG00000107282	ENST00000265381	T	0.04015	3.73	5.63	5.63	0.86233	.	0.056063	0.64402	D	0.000001	T	0.19685	0.0473	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01312	-1.1388	10	0.23302	T	0.38	.	19.6834	0.95972	0.0:1.0:0.0:0.0	.	411	Q02410	APBA1_HUMAN	S	411	ENSP00000265381:G411S	ENSP00000265381:G411S	G	-	1	0	APBA1	71280849	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.947000	0.70242	2.657000	0.90304	0.561000	0.74099	GGT	-	APBA1	-	NULL		0.542	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	0	0		62	62		0.00		C	NM_001163		72091029	-1	6		45		tier1	no_errors	ENST00000265381	ensembl	human	known	74_37	missense	11.76		SNP	1.000	T	6	45
TGDS	23483	genome.wustl.edu	37	13	95230402	95230402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:95230402G>A	ENST00000261296.5	-	9	802	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	TGDS_ENST00000498294.1_5'Flank	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	228					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TTTCTTGTTTGAAGCCCTGAC	0.363													ENSG00000088451																																					0													80.0	78.0	78.0					13																	95230402		2203	4300	6503	SO:0001587	stop_gained	0			-	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.682C>T	13.37:g.95230402G>A	ENSP00000261296:p.Gln228*		Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Nonsense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_D-bd	p.Q228*	ENST00000261296.5	37	c.682	CCDS9471.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.731049	0.96856	.	.	ENSG00000088451	ENST00000261296	.	.	.	5.77	5.77	0.91146	.	0.151466	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9835	0.97338	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000261296:Q228X	Q	-	1	0	TGDS	94028403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.539000	0.82063	2.726000	0.93360	0.655000	0.94253	CAA	-	TGDS	-	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like		0.363	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGDS	HGNC	protein_coding	OTTHUMT00000106904.2	0	0		71	71		0.00		G	NM_014305		95230402	-1	16		63		tier1	no_errors	ENST00000261296	ensembl	human	known	74_37	nonsense	20.25		SNP	1.000	A	16	63
OR10AD1	121275	genome.wustl.edu	37	12	48596332	48596332	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:48596332C>T	ENST00000310248.2	-	1	838	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GAAAGATGACCACAGTCAGGT	0.512													ENSG00000172640																																					0													93.0	90.0	91.0					12																	48596332		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.744G>A	12.37:g.48596332C>T			B9EGT9|Q6IFA8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V248	ENST00000310248.2	37	c.744	CCDS31787.1	12																																																																																			-	OR10AD1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AD1	HGNC	protein_coding	OTTHUMT00000397577.1	0	0		70	70		0.00		C			48596332	-1	16		72		tier1	no_errors	ENST00000310248	ensembl	human	known	74_37	silent	18.18		SNP	1.000	T	16	72
DPYD	1806	genome.wustl.edu	37	1	98165067	98165067	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:98165067G>A	ENST00000370192.3	-	6	620	c.520C>T	c.(520-522)Cct>Tct	p.P174S	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	174					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGCAGCGAAGGATTTCTGATC	0.403													ENSG00000188641																																					0													141.0	143.0	142.0					1																	98165067		2203	4300	6503	SO:0001583	missense	0			-	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.520C>T	1.37:g.98165067G>A	ENSP00000359211:p.Pro174Ser		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_tR_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.P174S	ENST00000370192.3	37	c.520	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562855	0.86335	.	.	ENSG00000188641	ENST00000370192	D	0.93366	-3.21	5.5	5.5	0.81552	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	M	0.87180	2.865	0.80722	D	1	D	0.62365	0.991	P	0.54026	0.74	D	0.96203	0.9147	10	0.87932	D	0	-8.0445	19.3869	0.94560	0.0:0.0:1.0:0.0	.	174	Q12882	DPYD_HUMAN	S	174	ENSP00000359211:P174S	ENSP00000359211:P174S	P	-	1	0	DPYD	97937655	1.000000	0.71417	0.979000	0.43373	0.876000	0.50452	9.431000	0.97494	2.591000	0.87537	0.585000	0.79938	CCT	-	DPYD	-	superfamily_Helical_ferredxn		0.403	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	0	0		76	76		0.00		G	NM_000110		98165067	-1	32		68		tier1	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	32.00		SNP	1.000	A	32	68
KIAA0100	9703	genome.wustl.edu	37	17	26955286	26955286	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:26955286C>T	ENST00000528896.2	-	24	4665	c.4591G>A	c.(4591-4593)Gga>Aga	p.G1531R	KIAA0100_ENST00000389003.3_Missense_Mutation_p.G1388R|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G1388R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1531						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCTTACCTCCTGATGACCCC	0.507													ENSG00000007202																																					0													110.0	98.0	102.0					17																	26955286		2203	4300	6503	SO:0001583	missense	0			-	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4591G>A	17.37:g.26955286C>T	ENSP00000436773:p.Gly1531Arg		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.G1531R	ENST00000528896.2	37	c.4591	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390818	0.62066	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.22336	1.96;1.96	5.41	4.41	0.53225	.	0.106321	0.64402	N	0.000004	T	0.19604	0.0471	L	0.44542	1.39	0.49483	D	0.999791	B	0.16166	0.016	B	0.17433	0.018	T	0.03423	-1.1038	10	0.17369	T	0.5	.	15.8911	0.79299	0.0:0.8642:0.1358:0.0	.	1531	Q14667	K0100_HUMAN	R	1531;1501;1531;1388	ENSP00000436773:G1531R;ENSP00000446443:G1388R	ENSP00000005905:G1531R	G	-	1	0	KIAA0100	23979413	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.248000	0.51430	1.231000	0.43661	0.563000	0.77884	GGA	-	KIAA0100	-	NULL		0.507	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	0	0		81	81		0.00		C	NM_014680		26955286	-1	35		77		tier1	no_errors	ENST00000528896	ensembl	human	known	74_37	missense	31.25		SNP	1.000	T	35	77
ATRN	8455	genome.wustl.edu	37	20	3562929	3562929	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3562929G>A	ENST00000262919.5	+	16	2760	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	ATRN_ENST00000446916.2_Missense_Mutation_p.E898K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	898	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AATTTTATCAGAACCCAGTAC	0.478													ENSG00000088812																																					0													101.0	95.0	97.0					20																	3562929		2203	4300	6503	SO:0001583	missense	0			-	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2692G>A	20.37:g.3562929G>A	ENSP00000262919:p.Glu898Lys		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.E898K	ENST00000262919.5	37	c.2692	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172186	0.57584	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.18810	2.19;2.19	5.51	4.54	0.55810	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.167889	0.52532	D	0.000064	T	0.26484	0.0647	M	0.64997	1.995	0.58432	D	0.999999	B;P	0.38827	0.021;0.649	B;B	0.41510	0.013;0.359	T	0.03240	-1.1057	10	0.16896	T	0.51	-13.2141	15.78	0.78252	0.0:0.1368:0.8632:0.0	.	898;898	O75882;O75882-2	ATRN_HUMAN;.	K	898;898;824	ENSP00000262919:E898K;ENSP00000416587:E898K	ENSP00000262919:E898K	E	+	1	0	ATRN	3510929	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.766000	0.85320	1.289000	0.44618	0.650000	0.86243	GAA	-	ATRN	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.478	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	0	0		53	53		0.00		G	NM_139321		3562929	+1	31		50		tier1	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	38.27		SNP	1.000	A	31	50
LRIT3	345193	genome.wustl.edu	37	4	110790995	110790995	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:110790995C>T	ENST00000594814.1	+	4	1090	c.1090C>T	c.(1090-1092)Cat>Tat	p.H364Y	LRIT3_ENST00000379920.3_Missense_Mutation_p.H319Y|LRIT3_ENST00000327908.3_Missense_Mutation_p.H181Y|LRIT3_ENST00000409621.2_Missense_Mutation_p.H181Y	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	364					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AACTGGAGATCATCCTGAGTG	0.473													ENSG00000183423																																					0													220.0	204.0	209.0					4																	110790995		2203	4300	6503	SO:0001583	missense	0			-	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1090C>T	4.37:g.110790995C>T	ENSP00000469759:p.His364Tyr		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H364Y	ENST00000594814.1	37	c.1090	CCDS3688.3	4	.	.	.	.	.	.	.	.	.	.	C	2.606	-0.291913	0.05568	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57752	0.38;0.57;0.38	4.92	4.06	0.47325	.	1.846370	0.02420	N	0.082480	T	0.40791	0.1131	N	0.22421	0.69	0.09310	N	1	B;P	0.42296	0.386;0.775	B;B	0.34242	0.044;0.178	T	0.41538	-0.9503	10	0.54805	T	0.06	.	9.215	0.37342	0.1292:0.5684:0.3024:0.0	.	319;181	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	Y	181;319;181	ENSP00000328222:H181Y;ENSP00000369252:H319Y;ENSP00000386734:H181Y	ENSP00000328222:H181Y	H	+	1	0	LRIT3	111010444	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	0.619000	0.24388	1.035000	0.39972	0.655000	0.94253	CAT	-	LRIT3	-	NULL		0.473	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	0	0		72	72		0.00		C	NM_198506		110790995	+1	29		48		tier1	no_errors	ENST00000594814	ensembl	human	known	74_37	missense	37.66		SNP	0.001	T	29	48
DNAH11	8701	genome.wustl.edu	37	7	21723448	21723448	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:21723448G>A	ENST00000409508.3	+	32	5538	c.5507G>A	c.(5506-5508)cGa>cAa	p.R1836Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1843Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1843	Stem. {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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTCGTCACCGATGGGAGGAT	0.448									Kartagener syndrome				ENSG00000105877																																					0													303.0	281.0	288.0					7																	21723448		1917	4116	6033	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5507G>A	7.37:g.21723448G>A	ENSP00000475939:p.Arg1836Gln		Q9UJ82	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.R1843Q	ENST00000409508.3	37	c.5528		7	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917239	0.52546	.	.	ENSG00000105877	ENST00000328843	T	0.23950	1.88	5.93	-11.5	0.00074	.	0.805000	0.11786	N	0.529665	T	0.19248	0.0462	.	.	.	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	9	0.42905	T	0.14	.	22.8062	0.99976	0.2393:0.0:0.7607:0.0	.	1843	Q96DT5	DYH11_HUMAN	Q	1843	ENSP00000330671:R1843Q	ENSP00000330671:R1843Q	R	+	2	0	DNAH11	21689973	0.858000	0.29795	0.297000	0.24988	0.696000	0.40369	0.898000	0.28404	-2.316000	0.00645	-1.051000	0.02340	CGA	-	DH11	-	NULL		0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DH11	HGNC	protein_coding	OTTHUMT00000326582.6	0	0		78	78		0.00		G	NM_003777		21723448	+1	39		69		tier1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	35.78		SNP	0.510	A	39	69
SI	6476	genome.wustl.edu	37	3	164741542	164741542	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:164741542G>A	ENST00000264382.3	-	26	2977	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	972	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTAACACTCAGGTGCTTTGGA	0.358										HNSCC(35;0.089)			ENSG00000090402																																					0													87.0	84.0	85.0					3																	164741542		2203	4300	6503	SO:0001583	missense	0			-	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2915C>T	3.37:g.164741542G>A	ENSP00000264382:p.Pro972Leu		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.P972L	ENST00000264382.3	37	c.2915	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474686	0.63737	.	.	ENSG00000090402	ENST00000264382	T	0.62364	0.03	5.23	5.23	0.72850	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.266659	0.39146	N	0.001444	D	0.83737	0.5319	M	0.93638	3.44	0.36864	D	0.888556	D	0.89917	1.0	D	0.97110	1.0	D	0.89184	0.3546	10	0.87932	D	0	.	14.6943	0.69110	0.0:0.0:0.8544:0.1456	.	972	P14410	SUIS_HUMAN	L	972	ENSP00000264382:P972L	ENSP00000264382:P972L	P	-	2	0	SI	166224236	1.000000	0.71417	0.111000	0.21465	0.036000	0.12997	4.135000	0.57997	2.882000	0.98803	0.655000	0.94253	CCT	-	SI	-	pfam_P_trefoil,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	0	0		52	52		0.00		G	NM_001041		164741542	-1	21		67		tier1	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	23.86		SNP	0.276	A	21	67
SOGA1	140710	genome.wustl.edu	37	20	35443579	35443579	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:35443579C>T	ENST00000357779.3	-	5	1878	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	SOGA1_ENST00000279034.6_Missense_Mutation_p.G518R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G359R|SOGA1_ENST00000237536.4_Missense_Mutation_p.G756R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	518					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTAGAGAGCCCCTGGGAGCCC	0.507													ENSG00000149639																																					0													98.0	105.0	103.0					20																	35443579		1977	4168	6145	SO:0001583	missense	0			-	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1552G>A	20.37:g.35443579C>T	ENSP00000350424:p.Gly518Arg		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_SOGA	p.G756R	ENST00000357779.3	37	c.2266		20	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500330	0.44455	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.16743	2.32;2.32;2.33;2.33	5.2	5.2	0.72013	.	0.501524	0.21634	N	0.071421	T	0.26048	0.0635	N	0.22421	0.69	0.36814	D	0.886047	D	0.76494	0.999	D	0.67725	0.953	T	0.06844	-1.0804	10	0.14656	T	0.56	-57.5324	17.6614	0.88193	0.0:1.0:0.0:0.0	.	518	O94964-4	.	R	756;518;359;518	ENSP00000237536:G756R;ENSP00000279034:G518R;ENSP00000413886:G359R;ENSP00000350424:G518R	ENSP00000237536:G756R	G	-	1	0	KIAA0889	34876993	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	3.173000	0.50839	2.706000	0.92434	0.561000	0.74099	GGG	-	SOGA1	-	NULL		0.507	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		0	0		49	49		0.00		C	NM_199181		35443579	-1	28		53		tier1	no_errors	ENST00000237536	ensembl	human	known	74_37	missense	34.57		SNP	1.000	T	28	53
DMD	1756	genome.wustl.edu	37	X	31462633	31462633	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:31462633G>A	ENST00000357033.4	-	60	9255	c.9049C>T	c.(9049-9051)Ctg>Ttg	p.L3017L	DMD_ENST00000474231.1_Silent_p.L557L|DMD_ENST00000378677.2_Silent_p.L3013L|DMD_ENST00000378707.3_Silent_p.L557L|DMD_ENST00000343523.2_Silent_p.L557L|DMD_ENST00000359836.1_Silent_p.L557L|DMD_ENST00000541735.1_Silent_p.L557L	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	3017					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)				AGGTCTTCCAGAGTGCTGAGG	0.428													ENSG00000198947																																					0													146.0	119.0	128.0					X																	31462633		2202	4300	6502	SO:0001819	synonymous_variant	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.9049C>T	X.37:g.31462633G>A			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	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.L3017	ENST00000357033.4	37	c.9049	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	8.408	0.843616	0.16963	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.56	4.68	0.58851	.	.	.	.	.	T	0.68742	0.3034	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66806	-0.5830	4	.	.	.	.	12.8253	0.57716	0.0833:0.0:0.9167:0.0	.	.	.	.	F	745	.	.	S	-	2	0	DMD	31372554	0.991000	0.36638	0.712000	0.30502	0.863000	0.49368	1.451000	0.35145	1.072000	0.40860	0.538000	0.68166	TCT	-	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	0	0		60	60		0.00		G	NM_004006		31462633	-1	37		23		tier1	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	61.67		SNP	0.931	A	37	23
DDI1	414301	genome.wustl.edu	37	11	103908223	103908223	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:103908223G>A	ENST00000302259.3	+	1	916	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	225							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAACATTGAAGAAAACATGAA	0.473													ENSG00000170967																																					0													105.0	118.0	113.0					11																	103908223		2202	4299	6501	SO:0001583	missense	0			-		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.673G>A	11.37:g.103908223G>A	ENSP00000302805:p.Glu225Lys		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.E225K	ENST00000302259.3	37	c.673	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733279	0.89482	.	.	ENSG00000170967	ENST00000302259	T	0.47528	0.84	5.02	5.02	0.67125	Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.66439	2.03	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.68112	-0.5495	10	0.59425	D	0.04	-11.0943	16.2348	0.82365	0.0:0.0:1.0:0.0	.	225	Q8WTU0	DDI1_HUMAN	K	225	ENSP00000302805:E225K	ENSP00000302805:E225K	E	+	1	0	DDI1	103413433	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.016000	0.93645	2.781000	0.95711	0.655000	0.94253	GAA	-	DDI1	-	pfam_Peptidase_aspartic_DDI1-type		0.473	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	0	0		26	26		0.00		G	NM_001001711		103908223	+1	15		53		tier1	no_errors	ENST00000302259	ensembl	human	known	74_37	missense	22.06		SNP	1.000	A	15	53
XIRP2	129446	genome.wustl.edu	37	2	168103070	168103070	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168103070C>T	ENST00000409195.1	+	9	5257	c.5168C>T	c.(5167-5169)tCc>tTc	p.S1723F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1723F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1501F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1548					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTATTGTCTTCCACATCAAAC	0.363													ENSG00000163092																																					0													116.0	111.0	113.0					2																	168103070		1856	4090	5946	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	ENST00000409195.1:c.5168C>T	2.37:g.168103070C>T	ENSP00000386840:p.Ser1723Phe		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.S1723F	ENST00000409195.1	37	c.5168	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719225	0.48728	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03772	3.82;3.82;3.81	5.59	4.71	0.59529	.	0.229890	0.46758	N	0.000279	T	0.19685	0.0473	M	0.69823	2.125	0.54753	D	0.99998	D;D;P	0.89917	0.999;1.0;0.577	D;D;B	0.91635	0.997;0.999;0.139	T	0.00324	-1.1817	10	0.87932	D	0	-2.0632	13.1572	0.59524	0.0:0.9218:0.0:0.0782	.	1548;1548;1501	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	1723;1723;1501	ENSP00000386840:S1723F;ENSP00000295237:S1723F;ENSP00000387255:S1501F	ENSP00000295237:S1723F	S	+	2	0	XIRP2	167811316	0.994000	0.37717	0.943000	0.38184	0.546000	0.35178	2.981000	0.49329	1.364000	0.46038	0.650000	0.86243	TCC	-	XIRP2	-	NULL		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	0	0		50	50		0.00		C	NM_152381		168103070	+1	26		37		tier1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	41.27		SNP	0.998	T	26	37
MLEC	9761	genome.wustl.edu	37	12	121131956	121131956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:121131956C>T	ENST00000228506.3	+	2	726	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	MLEC_ENST00000412616.2_Nonsense_Mutation_p.Q100*|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	100					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GATCCTGTATCAAACTGAGCG	0.498													ENSG00000110917																																					0													108.0	90.0	96.0					12																	121131956		2203	4300	6503	SO:0001587	stop_gained	0			-	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.298C>T	12.37:g.121131956C>T	ENSP00000228506:p.Gln100*			Nonsense_Mutation	SNP	pfam_Malectin	p.Q100*	ENST00000228506.3	37	c.298	CCDS9206.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.267475	0.97426	.	.	ENSG00000110917	ENST00000228506;ENST00000412616;ENST00000545525	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.7862	0.96440	0.0:1.0:0.0:0.0	.	.	.	.	X	100;100;17	.	ENSP00000228506:Q100X	Q	+	1	0	MLEC	119616339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.434000	0.80377	2.769000	0.95229	0.655000	0.94253	CAA	-	MLEC	-	pfam_Malectin		0.498	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	HGNC	protein_coding	OTTHUMT00000402781.2	0	0		91	91		0.00		C	NM_014730		121131956	+1	32		54		tier1	no_errors	ENST00000228506	ensembl	human	known	74_37	nonsense	37.21		SNP	1.000	T	32	54
CMYA5	202333	genome.wustl.edu	37	5	79025711	79025711	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:79025711G>A	ENST00000446378.2	+	2	1154	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	375					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAACCACATGAAGTGGAACC	0.478													ENSG00000164309																																					0													93.0	92.0	92.0					5																	79025711		2158	4259	6417	SO:0001583	missense	0			-	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1123G>A	5.37:g.79025711G>A	ENSP00000394770:p.Glu375Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E375K	ENST00000446378.2	37	c.1123	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284864	0.40394	.	.	ENSG00000164309	ENST00000446378	T	0.39592	1.07	5.78	1.93	0.25924	.	1.194430	0.06043	N	0.655143	T	0.27933	0.0688	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.23726	-1.0180	10	0.38643	T	0.18	.	5.7381	0.18077	0.385:0.139:0.476:0.0	.	375	Q8N3K9	CMYA5_HUMAN	K	375	ENSP00000394770:E375K	ENSP00000394770:E375K	E	+	1	0	CMYA5	79061467	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.488000	0.22371	0.340000	0.23745	0.557000	0.71058	GAA	-	CMYA5	-	NULL		0.478	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	0	0		28	28		0.00		G	NM_153610		79025711	+1	19		51		tier1	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	27.14		SNP	0.000	A	19	51
TRAPPC3	27095	genome.wustl.edu	37	1	36602359	36602359	+	3'UTR	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36602359C>A	ENST00000373166.3	-	0	1078				TRAPPC3_ENST00000462715.1_5'UTR	NM_001270894.1|NM_014408.4	NP_001257823.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3						ER to Golgi vesicle-mediated transport (GO:0006888)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|TRAPP complex (GO:0030008)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				TGTCACACTACAGCTAGCAAT	0.547													ENSG00000054116																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF041432	CCDS404.1, CCDS59194.1, CCDS72757.1, CCDS72758.1	1p34.2	2011-10-10			ENSG00000054116	ENSG00000054116		"""Trafficking protein particle complex"""	19942	protein-coding gene	gene with protein product		610955				8619474	Standard	NM_014408		Approved	BET3	uc031pls.1	O43617	OTTHUMG00000007664	ENST00000373166.3:c.*445G>T	1.37:g.36602359C>A			A6NDN0|B2RDN2|D3DPS2	R	SNP	-	NULL	ENST00000373166.3	37	NULL	CCDS404.1	1																																																																																			-	TRAPPC3	-	-		0.547	TRAPPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC3	HGNC	protein_coding	OTTHUMT00000020384.1	0	0		28	28		0.00		C	NM_014408		36602359	-1	17		40		tier1	no_errors	ENST00000462715	ensembl	human	known	74_37	rna	29.82		SNP	0.000	A	17	40
VN1R1	57191	genome.wustl.edu	37	19	57967362	57967362	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57967362G>A	ENST00000321039.3	-	1	492	c.493C>T	c.(493-495)Cca>Tca	p.P165S	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	165					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ATAAACCTTGGGGATCTAATC	0.458													ENSG00000178201																																					0													97.0	88.0	91.0					19																	57967362		2203	4300	6503	SO:0001583	missense	0			-	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.493C>T	19.37:g.57967362G>A	ENSP00000322339:p.Pro165Ser		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.P165S	ENST00000321039.3	37	c.493	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375166	0.24857	.	.	ENSG00000178201	ENST00000321039	T	0.08282	3.11	4.24	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08179	0.0204	L	0.31120	0.905	0.09310	N	1	P	0.34724	0.465	B	0.37550	0.253	T	0.28332	-1.0047	9	0.51188	T	0.08	.	10.2474	0.43350	0.0988:0.0:0.9012:0.0	.	165	Q9GZP7	VN1R1_HUMAN	S	165	ENSP00000322339:P165S	ENSP00000322339:P165S	P	-	1	0	VN1R1	62659174	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.811000	0.27198	1.145000	0.42336	0.644000	0.83932	CCA	-	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	0	0		56	56		0.00		G	NM_020633		57967362	-1	37		51		tier1	no_errors	ENST00000321039	ensembl	human	known	74_37	missense	41.57		SNP	0.007	A	37	51
MYO16	23026	genome.wustl.edu	37	13	109535436	109535436	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:109535436G>A	ENST00000357550.2	+	12	1430	c.1389G>A	c.(1387-1389)ggG>ggA	p.G463G	MYO16_ENST00000251041.5_Silent_p.G463G|MYO16_ENST00000356711.2_Silent_p.G463G	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTCCTCAGGGAAGCTGTGTT	0.547													ENSG00000041515																																					0													173.0	145.0	155.0					13																	109535436		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1389G>A	13.37:g.109535436G>A				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G463	ENST00000357550.2	37	c.1389	CCDS32008.1	13																																																																																			-	MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.547	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	0	0		39	39		0.00		G	NM_015011		109535436	+1	13		30		tier1	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	30.23		SNP	0.602	A	13	30
DROSHA	29102	genome.wustl.edu	37	5	31508871	31508871	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:31508871C>T	ENST00000511367.2	-	9	1688	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	DROSHA_ENST00000442743.1_Missense_Mutation_p.E445K|DROSHA_ENST00000344624.3_Missense_Mutation_p.E482K|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000513349.1_Missense_Mutation_p.E445K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	482					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CACTCGGATTCACTGGAACTC	0.438													ENSG00000113360																																					0													60.0	54.0	56.0					5																	31508871		1857	4087	5944	SO:0001583	missense	0			-	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1444G>A	5.37:g.31508871C>T	ENSP00000425979:p.Glu482Lys		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_dsR-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_dsR-bd_dom,pfscan_RNase_III_dom	p.E482K	ENST00000511367.2	37	c.1444	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007932	0.75046	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.45668	1.48;1.48;0.89;0.89	5.35	5.35	0.76521	.	0.208503	0.49305	D	0.000160	T	0.38719	0.1051	L	0.40543	1.245	0.80722	D	1	B;B;B	0.31054	0.306;0.118;0.255	B;B;B	0.29267	0.1;0.037;0.071	T	0.22068	-1.0227	10	0.48119	T	0.1	-22.5652	19.0753	0.93159	0.0:1.0:0.0:0.0	.	414;445;482	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	K	482;482;445;445;407;438	ENSP00000425979:E482K;ENSP00000339845:E482K;ENSP00000409335:E445K;ENSP00000424161:E445K	ENSP00000265075:E407K	E	-	1	0	DROSHA	31544628	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	7.433000	0.80362	2.515000	0.84797	0.650000	0.86243	GAA	-	DROSHA	-	NULL		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	0	0		65	65		0.00		C	NM_013235		31508871	-1	15		86		tier1	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	14.85		SNP	1.000	T	15	86
KIAA1549	57670	genome.wustl.edu	37	7	138601728	138601728	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:138601728C>T	ENST00000422774.1	-	2	2692	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	KIAA1549_ENST00000440172.1_Missense_Mutation_p.E882K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E832K			Q9HCM3	K1549_HUMAN	KIAA1549	882						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGCTCACTTCCGTGGAGGTG	0.622			O	BRAF	pilocytic astrocytoma								ENSG00000122778																									NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													38.0	45.0	43.0					7																	138601728		2112	4228	6340	SO:0001583	missense	0			-		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2644G>A	7.37:g.138601728C>T	ENSP00000416040:p.Glu882Lys		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.E882K	ENST00000422774.1	37	c.2644	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759124	0.31137	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24350	1.86;1.86;1.86	4.4	4.4	0.53042	.	0.885967	0.09653	N	0.773442	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	P;P	0.42518	0.675;0.782	B;B	0.40256	0.173;0.324	T	0.03325	-1.1048	10	0.15952	T	0.53	.	11.253	0.49037	0.1819:0.818:0.0:0.0	.	882;882	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	K	882;832;882	ENSP00000406661:E882K;ENSP00000242365:E832K;ENSP00000416040:E882K	ENSP00000242365:E832K	E	-	1	0	KIAA1549	138252268	0.000000	0.05858	0.007000	0.13788	0.017000	0.09413	0.925000	0.28791	2.297000	0.77311	0.561000	0.74099	GAA	-	KIAA1549	-	NULL		0.622	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	0	0		30	30		0.00		C			138601728	-1	27		40		tier1	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	40.30		SNP	0.006	T	27	40
LEMD2	221496	genome.wustl.edu	37	6	33752145	33752145	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33752145G>A	ENST00000293760.5	-	3	856	c.837C>T	c.(835-837)ttC>ttT	p.F279F	LEMD2_ENST00000508327.1_5'UTR|LEMD2_ENST00000502643.1_5'Flank	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	279					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GGATGGCCAGGAAATTGTAGA	0.547													ENSG00000161904																																					0													124.0	112.0	116.0					6																	33752145		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.837C>T	6.37:g.33752145G>A			B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.F279	ENST00000293760.5	37	c.837	CCDS4785.1	6																																																																																			-	LEMD2	-	pfam_Inner-Nucl-membr_MAN1		0.547	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	HGNC	protein_coding	OTTHUMT00000040209.3	0	0		45	45		0.00		G	XM_166338		33752145	-1	23		29		tier1	no_errors	ENST00000293760	ensembl	human	known	74_37	silent	44.23		SNP	1.000	A	23	29
OR51B6	390058	genome.wustl.edu	37	11	5373240	5373240	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5373240G>A	ENST00000380219.1	+	1	503	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	168					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTACTGTCGATCCCATGTA	0.473													ENSG00000176239																																					0													233.0	189.0	204.0					11																	5373240		2201	4297	6498	SO:0001583	missense	0			-		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.503G>A	11.37:g.5373240G>A	ENSP00000369568:p.Arg168Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.R168Q	ENST00000380219.1	37	c.503	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701889	0.30232	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00099	8.73	5.15	-0.65	0.11457	GPCR, rhodopsin-like superfamily (1);	0.740232	0.11553	N	0.552563	T	0.00109	0.0003	N	0.21617	0.685	0.09310	N	1	B	0.21821	0.061	B	0.16289	0.015	T	0.02925	-1.1093	10	0.37606	T	0.19	.	9.8595	0.41105	0.5026:0.0:0.4974:0.0	.	168	Q9H340	O51B6_HUMAN	Q	167;168	ENSP00000369568:R168Q	ENSP00000369568:R168Q	R	+	2	0	OR51B6	5329816	0.000000	0.05858	0.060000	0.19600	0.783000	0.44284	0.173000	0.16724	0.004000	0.14682	0.557000	0.71058	CGA	-	OR51B6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.473	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	HGNC	protein_coding	OTTHUMT00000142960.1	0	0		40	40		0.00		G	NM_001004750		5373240	+1	27		39		tier1	no_errors	ENST00000380219	ensembl	human	known	74_37	missense	40.91		SNP	0.010	A	27	39
TMEM233	387890	genome.wustl.edu	37	12	120067675	120067675	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:120067675G>A	ENST00000426426.1	+	2	711	c.321G>A	c.(319-321)agG>agA	p.R107R	RN7SKP197_ENST00000517077.1_RNA|TMEM233_ENST00000453450.2_3'UTR	NM_001136534.1	NP_001130006.1	B4DJY2	TM233_HUMAN	transmembrane protein 233	107					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(1)	1						ACTTCACAAGGAAGTAAGTAG	0.502													ENSG00000224982																																					0													113.0	89.0	96.0					12																	120067675		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS44995.1	12q24.23	2009-10-16			ENSG00000224982	ENSG00000224982			37219	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 2"""						Standard	NM_001136534		Approved	IFITMD2	uc010szd.1	B4DJY2	OTTHUMG00000168944	ENST00000426426.1:c.321G>A	12.37:g.120067675G>A				Silent	SNP	pfam_CD225/Dispanin_fam	p.R107	ENST00000426426.1	37	c.321	CCDS44995.1	12																																																																																			-	TMEM233	-	NULL		0.502	TMEM233-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM233	HGNC	protein_coding	OTTHUMT00000401684.1	0	0		28	28		0.00		G	NM_001136534		120067675	+1	5		25		tier1	no_errors	ENST00000426426	ensembl	human	known	74_37	silent	16.67		SNP	0.002	A	5	25
TNR	7143	genome.wustl.edu	37	1	175334385	175334385	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:175334385G>A	ENST00000367674.2	-	12	3056	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	TNR_ENST00000263525.2_Missense_Mutation_p.S783F			Q92752	TENR_HUMAN	tenascin R	783	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCACATGAGAAAAGTGCAG	0.512													ENSG00000116147																																					0													73.0	72.0	72.0					1																	175334385		2203	4300	6503	SO:0001583	missense	0			-	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2348C>T	1.37:g.175334385G>A	ENSP00000356646:p.Ser783Phe		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.S783F	ENST00000367674.2	37	c.2348	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060326	0.76074	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.60424	0.19;0.19	5.91	5.91	0.95273	Fibronectin, type III (4);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82004	-0.0672	10	0.72032	D	0.01	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	783	Q92752	TENR_HUMAN	F	783	ENSP00000356646:S783F;ENSP00000263525:S783F	ENSP00000263525:S783F	S	-	2	0	TNR	173601008	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	9.296000	0.96104	2.793000	0.96121	0.655000	0.94253	TCT	-	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.512	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	0	0		36	36		0.00		G	NM_003285		175334385	-1	6		57		tier1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	9.52		SNP	1.000	A	6	57
GRPR	2925	genome.wustl.edu	37	X	16168573	16168573	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:16168573G>A	ENST00000380289.2	+	2	957	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	187					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTTCCATGAGGAAAGCACCAA	0.502													ENSG00000126010																																					0													219.0	167.0	185.0					X																	16168573		2203	4300	6503	SO:0001583	missense	0			-		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.559G>A	X.37:g.16168573G>A	ENSP00000369643:p.Glu187Lys		B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E187K	ENST00000380289.2	37	c.559	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	G	5.008	0.187121	0.09547	.	.	ENSG00000126010	ENST00000380289	T	0.36878	1.23	5.57	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.679721	0.15188	N	0.275717	T	0.14874	0.0359	N	0.12182	0.205	0.20703	N	0.999861	B	0.02656	0.0	B	0.06405	0.002	T	0.25152	-1.0140	10	0.09590	T	0.72	-5.3977	3.6984	0.08374	0.3648:0.3442:0.2909:0.0	.	187	P30550	GRPR_HUMAN	K	187	ENSP00000369643:E187K	ENSP00000369643:E187K	E	+	1	0	GRPR	16078494	0.997000	0.39634	0.999000	0.59377	0.993000	0.82548	1.163000	0.31798	1.089000	0.41292	0.600000	0.82982	GAA	-	GRPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_pep_rcpt		0.502	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	0	0		38	38		0.00		G	NM_005314		16168573	+1	30		10		tier1	no_errors	ENST00000380289	ensembl	human	known	74_37	missense	75.00		SNP	0.504	A	30	10
SERPINA7	6906	genome.wustl.edu	37	X	105279334	105279334	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:105279334C>T	ENST00000327674.4	-	2	1000	c.665G>A	c.(664-666)aGt>aAt	p.S222N	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.S222N			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	222					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAAGCTGGAACTGTCTTCTGT	0.408													ENSG00000123561																																					0													203.0	178.0	186.0					X																	105279334		2203	4300	6503	SO:0001583	missense	0			-	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.665G>A	X.37:g.105279334C>T	ENSP00000329374:p.Ser222Asn		D3DUX1	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S222N	ENST00000327674.4	37	c.665	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	C	2.003	-0.428946	0.04701	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84589	-1.87;-1.87	4.41	2.62	0.31277	Serpin domain (3);	2.846680	0.01529	N	0.018730	T	0.77974	0.4211	L	0.33339	1.005	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.59289	-0.7482	10	0.22109	T	0.4	.	5.1894	0.15201	0.0:0.7354:0.0:0.2646	.	222	P05543	THBG_HUMAN	N	222	ENSP00000329374:S222N;ENSP00000361644:S222N	ENSP00000329374:S222N	S	-	2	0	SERPINA7	105165990	0.000000	0.05858	0.057000	0.19452	0.958000	0.62258	-0.304000	0.08199	0.983000	0.38602	0.594000	0.82650	AGT	-	SERPI7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.408	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPI7	HGNC	protein_coding	OTTHUMT00000057790.1	0	0		24	24		0.00		C	NM_000354		105279334	-1	8		26		tier1	no_errors	ENST00000327674	ensembl	human	known	74_37	missense	23.53		SNP	0.001	T	8	26
ARHGAP31	57514	genome.wustl.edu	37	3	119120885	119120885	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:119120885C>T	ENST00000264245.4	+	10	1818	c.1286C>T	c.(1285-1287)cCg>cTg	p.P429L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	429					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.P429L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CGGCCCCCACCGGAACAGCTG	0.622													ENSG00000031081																									Pancreas(7;176 297 5394 51128 51241)												1	Substitution - Missense(1)	pancreas(1)											47.0	56.0	53.0					3																	119120885		1963	4165	6128	SO:0001583	missense	0			-		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1286C>T	3.37:g.119120885C>T	ENSP00000264245:p.Pro429Leu		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P429L	ENST00000264245.4	37	c.1286	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149169	0.78001	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.26373	1.74	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.50905	0.1643	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.48536	-0.9027	10	0.72032	D	0.01	.	18.5258	0.90971	0.0:1.0:0.0:0.0	.	429	Q2M1Z3	RHG31_HUMAN	L	429	ENSP00000264245:P429L	ENSP00000264245:P429L	P	+	2	0	ARHGAP31	120603575	1.000000	0.71417	0.209000	0.23619	0.452000	0.32318	7.320000	0.79064	2.850000	0.98022	0.655000	0.94253	CCG	-	ARHGAP31	-	NULL		0.622	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	0	0		60	60		0.00		C			119120885	+1	18		72		tier1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	20.00		SNP	0.998	T	18	72
TPH2	121278	genome.wustl.edu	37	12	72338446	72338446	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:72338446G>A	ENST00000333850.3	+	4	661	c.520G>A	c.(520-522)Gag>Aag	p.E174K	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	174					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTATGGTTCTGAGCTTGATGC	0.483													ENSG00000139287																																					0													152.0	149.0	150.0					12																	72338446		2203	4300	6503	SO:0001583	missense	0			-	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.520G>A	12.37:g.72338446G>A	ENSP00000329093:p.Glu174Lys		A6NGA4|Q14CB0	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.E174K	ENST00000333850.3	37	c.520	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.189707	0.94923	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99656	-6.31	5.83	5.83	0.93111	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	M	0.90309	3.105	0.80722	D	1	P	0.51057	0.941	P	0.55161	0.77	D	0.98391	1.0563	10	0.87932	D	0	-25.8551	20.1184	0.97949	0.0:0.0:1.0:0.0	.	174	Q8IWU9	TPH2_HUMAN	K	174	ENSP00000329093:E174K	ENSP00000266669:E174K	E	+	1	0	TPH2	70624713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.775000	0.95449	0.650000	0.86243	GAG	-	TPH2	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.483	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	0	0		22	22		0.00		G	NM_173353		72338446	+1	6		33		tier1	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	15.38		SNP	1.000	A	6	33
SCIN	85477	genome.wustl.edu	37	7	12644139	12644139	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:12644139G>A	ENST00000297029.5	+	4	618	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	SCIN_ENST00000445618.2_5'UTR|SCIN_ENST00000519209.1_5'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	173	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTCTTTTAGGAAATTTATCA	0.388													ENSG00000006747																																					0													173.0	143.0	152.0					7																	12644139		692	1591	2283	SO:0001630	splice_region_variant	0			-	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.517-1G>A	7.37:g.12644139G>A			A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.E173K	ENST00000297029.5	37	c.517	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	13.74	2.325878	0.41197	.	.	ENSG00000006747	ENST00000297029;ENST00000523729;ENST00000518849	T;T;T	0.53423	0.62;0.62;0.62	5.46	3.65	0.41850	Gelsolin domain (1);	0.474116	0.23118	N	0.051725	T	0.30262	0.0759	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.09292	-1.0681	10	0.06236	T	0.91	-19.8453	13.1757	0.59626	0.1952:0.0:0.8048:0.0	.	173	Q9Y6U3	ADSV_HUMAN	K	173;14;14	ENSP00000297029:E173K;ENSP00000429598:E14K;ENSP00000428555:E14K	ENSP00000297029:E173K	E	+	1	0	SCIN	12610664	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	2.465000	0.45075	0.387000	0.25024	-1.094000	0.02160	GAA	-	SCIN	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin		0.388	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	0	0		87	87		0.00		G	NM_033128	Missense_Mutation	12644139	+1	13		87		tier1	no_errors	ENST00000297029	ensembl	human	known	74_37	missense	13.00		SNP	1.000	A	13	87
OR5M9	390162	genome.wustl.edu	37	11	56230598	56230598	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56230598C>T	ENST00000279791.1	-	1	279	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	94						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(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACCAAGCATCCCACATAGGAA	0.493													ENSG00000150269																																					0													115.0	111.0	112.0					11																	56230598		2201	4296	6497	SO:0001583	missense	0			-	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.280G>A	11.37:g.56230598C>T	ENSP00000279791:p.Gly94Arg		Q6IEW5|Q96RB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G94R	ENST00000279791.1	37	c.280	CCDS31531.1	11	.	.	.	.	.	.	.	.	.	.	C	8.490	0.861748	0.17178	.	.	ENSG00000150269	ENST00000279791	T	0.09817	2.94	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000229	T	0.17577	0.0422	M	0.76574	2.34	0.18873	N	0.999985	B	0.23854	0.092	B	0.27262	0.078	T	0.11991	-1.0565	10	0.72032	D	0.01	-9.6729	14.8797	0.70522	0.0:1.0:0.0:0.0	.	94	Q8NGP3	OR5M9_HUMAN	R	94	ENSP00000279791:G94R	ENSP00000279791:G94R	G	-	1	0	OR5M9	55987174	0.225000	0.23685	0.031000	0.17742	0.131000	0.20780	4.519000	0.60517	2.283000	0.76528	0.549000	0.68633	GGA	-	OR5M9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.493	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	HGNC	protein_coding	OTTHUMT00000391638.1	0	0		17	17		0.00		C	NM_001004743		56230598	-1	7		15		tier1	no_errors	ENST00000279791	ensembl	human	known	74_37	missense	31.82		SNP	0.284	T	7	15
KRT36	8689	genome.wustl.edu	37	17	39643899	39643899	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39643899C>T	ENST00000328119.6	-	4	789	c.790G>A	c.(790-792)Gat>Aat	p.D264N	KRT36_ENST00000393986.2_Missense_Mutation_p.D214N	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	264	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CATCTCATATCCTCCAGGATC	0.592													ENSG00000126337																																					0													132.0	117.0	122.0					17																	39643899		2203	4300	6503	SO:0001583	missense	0			-	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.790G>A	17.37:g.39643899C>T	ENSP00000329165:p.Asp264Asn		Q86XG4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.D264N	ENST00000328119.6	37	c.790	CCDS11395.1	17	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865004	0.91511	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	T;T	0.40476	1.03;1.03	5.83	5.83	0.93111	Filament (1);	0.239822	0.28841	N	0.013965	T	0.51024	0.1650	M	0.66297	2.02	0.49483	D	0.999792	P	0.34615	0.459	B	0.39465	0.3	T	0.48736	-0.9009	10	0.48119	T	0.1	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	264	O76013	KRT36_HUMAN	N	214;264	ENSP00000377555:D214N;ENSP00000329165:D264N	ENSP00000329165:D264N	D	-	1	0	KRT36	36897425	0.998000	0.40836	0.997000	0.53966	0.885000	0.51271	3.904000	0.56325	2.769000	0.95229	0.655000	0.94253	GAT	-	KRT36	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I		0.592	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	HGNC	protein_coding	OTTHUMT00000259508.1	0	0		48	48		0.00		C	NM_003771		39643899	-1	17		38		tier1	no_errors	ENST00000328119	ensembl	human	known	74_37	missense	30.91		SNP	1.000	T	17	38
CFAP58	159686	genome.wustl.edu	37	10	106166549	106166549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:106166549C>T	ENST00000369704.3	+	15	2388	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		752						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCTGCTCCTCCAGGTAGCATT	0.448													ENSG00000120051																																					0													105.0	106.0	105.0					10																	106166549		2203	4300	6503	SO:0001587	stop_gained	0			-																												ENST00000369704.3:c.2254C>T	10.37:g.106166549C>T	ENSP00000358718:p.Gln752*		D3DRA6|Q8NA27	Nonsense_Mutation	SNP	superfamily_Homeodomain-like	p.Q752*	ENST00000369704.3	37	c.2254	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.946974	0.99012	.	.	ENSG00000120051	ENST00000369704	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-26.3534	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	752	.	ENSP00000358718:Q752X	Q	+	1	0	CCDC147	106156539	1.000000	0.71417	0.973000	0.42090	0.932000	0.56968	7.190000	0.77755	2.937000	0.99478	0.650000	0.86243	CAG	-	CCDC147	-	superfamily_Homeodomain-like		0.448	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	0	0		54	54		0.00		C			106166549	+1	10		54		tier1	no_errors	ENST00000369704	ensembl	human	known	74_37	nonsense	15.62		SNP	1.000	T	10	54
UNC79	57578	genome.wustl.edu	37	14	94089060	94089060	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:94089060C>T	ENST00000393151.2	+	30	5481	c.5481C>T	c.(5479-5481)tcC>tcT	p.S1827S	UNC79_ENST00000553484.1_Silent_p.S1849S|UNC79_ENST00000555664.1_Silent_p.S1827S|UNC79_ENST00000256339.4_Silent_p.S1650S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1827					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGAGGAATCCGAATTTAAGA	0.473													ENSG00000133958																																					0													67.0	62.0	63.0					14																	94089060		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5481C>T	14.37:g.94089060C>T			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.S1849	ENST00000393151.2	37	c.5547		14																																																																																			-	UNC79	-	superfamily_ARM-type_fold		0.473	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	0	0		56	56		0.00		C	XM_028395		94089060	+1	16		21		tier1	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	42.11		SNP	0.287	T	16	21
LAMB2	3913	genome.wustl.edu	37	3	49161903	49161903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49161903C>T	ENST00000418109.1	-	23	3416	c.3252G>A	c.(3250-3252)tgG>tgA	p.W1084*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.W1084*|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1084	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGTGAGGTTCCAGAAGTTGG	0.637													ENSG00000172037																																					0													43.0	44.0	43.0					3																	49161903		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3252G>A	3.37:g.49161903C>T	ENSP00000388325:p.Trp1084*		Q16321	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.W1084*	ENST00000418109.1	37	c.3252	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.840073	0.98974	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1858	0.93644	0.0:1.0:0.0:0.0	.	.	.	.	X	1084	.	ENSP00000307156:W1084X	W	-	3	0	LAMB2	49136907	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.074000	0.71253	2.559000	0.86315	0.462000	0.41574	TGG	-	LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.637	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	0	0		12	12		0.00		C	NM_002292		49161903	-1	13		18		tier1	no_errors	ENST00000305544	ensembl	human	known	74_37	nonsense	41.94		SNP	1.000	T	13	18
FETUB	26998	genome.wustl.edu	37	3	186370413	186370413	+	Missense_Mutation	SNP	C	C	T	rs552370206	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:186370413C>T	ENST00000265029.3	+	7	1243	c.1142C>T	c.(1141-1143)cCg>cTg	p.P381L	FETUB_ENST00000450521.1_Missense_Mutation_p.P381L|FETUB_ENST00000382134.3_Missense_Mutation_p.P316L|FETUB_ENST00000539949.1_Missense_Mutation_p.P233L|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.P344L	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	381					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.P381Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTTGTCCTTCCGCCATGAGAA	0.582													ENSG00000090512	C|||	2	0.000399361	0.0	0.0	5008	,	,		19270	0.002		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											34.0	37.0	36.0					3																	186370413		2203	4296	6499	SO:0001583	missense	0			-	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.1142C>T	3.37:g.186370413C>T	ENSP00000265029:p.Pro381Leu		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.P381L	ENST00000265029.3	37	c.1142	CCDS3279.1	3	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353388	0.61293	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.10960	2.92;3.01;2.92;3.29;2.82	4.71	4.71	0.59529	.	0.000000	0.53938	D	0.000042	T	0.20820	0.0501	M	0.68952	2.095	0.50313	D	0.999868	D;D;D	0.71674	0.996;0.998;0.983	P;P;P	0.50708	0.5;0.648;0.448	T	0.00453	-1.1730	10	0.87932	D	0	-7.9789	13.377	0.60745	0.0:1.0:0.0:0.0	.	344;316;381	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	L	381;233;381;316;344	ENSP00000404288:P381L;ENSP00000443704:P233L;ENSP00000265029:P381L;ENSP00000371569:P316L;ENSP00000371571:P344L	ENSP00000265029:P381L	P	+	2	0	FETUB	187853107	0.017000	0.18338	0.413000	0.26509	0.003000	0.03518	1.862000	0.39448	2.619000	0.88677	0.655000	0.94253	CCG	-	FETUB	-	NULL		0.582	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FETUB	HGNC	protein_coding	OTTHUMT00000344679.1	0	0		32	32		0.00		C	NM_014375		186370413	+1	6		30		tier1	no_errors	ENST00000265029	ensembl	human	known	74_37	missense	16.22		SNP	0.785	T	6	30
TRPV1	7442	genome.wustl.edu	37	17	3494426	3494426	+	Intron	SNP	G	G	A	rs201752726		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3494426G>A	ENST00000571088.1	-	4	665				TRPV1_ENST00000174621.6_Missense_Mutation_p.P144S|TRPV1_ENST00000399759.3_Intron|TRPV1_ENST00000425167.2_Intron|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000399756.4_Intron|SHPK_ENST00000572705.1_Intron|TRPV1_ENST00000576351.1_Intron	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1						calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGACATAAGGGAGGGTCAGGG	0.607													ENSG00000196689																									Melanoma(38;962 1762 15789)												0													54.0	56.0	55.0					17																	3494426		2002	4160	6162	SO:0001627	intron_variant	0			-	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.452-16C>T	17.37:g.3494426G>A			A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.P144S	ENST00000571088.1	37	c.430	CCDS45576.1	17	.	.	.	.	.	.	.	.	.	.	G	7.051	0.564512	0.13498	.	.	ENSG00000196689	ENST00000174621	D	0.89746	-2.56	5.21	-0.422	0.12329	.	.	.	.	.	T	0.77605	0.4155	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.61322	-0.7086	7	.	.	.	.	6.3868	0.21566	0.31:0.1275:0.5624:0.0	.	144	E7EQ80	.	S	144	ENSP00000174621:P144S	.	P	-	1	0	TRPV1	3441175	0.003000	0.15002	0.000000	0.03702	0.707000	0.40811	0.150000	0.16263	0.315000	0.23110	0.655000	0.94253	CCC	rs201752726	TRPV1	-	prints_TRPV1-4_channel		0.607	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1	0	0		16	16		0.00		G	NM_018727		3494426	-1	12		19		tier1	no_errors	ENST00000174621	ensembl	human	known	74_37	missense	38.71		SNP	0.000	A	12	19
ATF3	467	genome.wustl.edu	37	1	212792935	212792935	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:212792935G>A	ENST00000341491.4	+	0	849				ATF3_ENST00000366985.1_3'UTR|ATF3_ENST00000366987.2_3'UTR|ATF3_ENST00000492118.1_3'UTR	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3						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)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|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 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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	AGTCCTCATTGAATCCTCATT	0.493													ENSG00000162772																																					0													18.0	19.0	18.0					1																	212792935		2203	4299	6502	SO:0001624	3_prime_UTR_variant	0			-	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.*38G>A	1.37:g.212792935G>A			Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	R	SNP	-	NULL	ENST00000341491.4	37	NULL	CCDS1506.1	1																																																																																			-	ATF3	-	-		0.493	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF3	HGNC	protein_coding	OTTHUMT00000089296.1	0	0		90	90		0.00		G	NM_001674		212792935	+1	37		83		tier1	no_errors	ENST00000492118	ensembl	human	known	74_37	rna	30.58		SNP	0.026	A	37	83
ALG9	79796	genome.wustl.edu	37	11	111711380	111711380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:111711380G>A	ENST00000531154.1	-	10	1130	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Nonsense_Mutation_p.Q220*|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	391					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|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)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAACTCACCTGAAGTGCAGAG	0.393													ENSG00000086848																																					0													85.0	88.0	87.0					11																	111711380		1898	4120	6018	SO:0001587	stop_gained	0			-		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.658C>T	11.37:g.111711380G>A	ENSP00000435517:p.Gln220*		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Nonsense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.Q220*	ENST00000531154.1	37	c.658	CCDS41714.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.594725	0.98378	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	.	.	.	5.42	5.42	0.78866	.	0.000000	0.40385	N	0.001112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.9419	19.5951	0.95533	0.0:0.0:1.0:0.0	.	.	.	.	X	220;220;624	.	ENSP00000381090:Q220X	Q	-	1	0	ALG9	111216590	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.813000	0.99286	2.705000	0.92388	0.591000	0.81541	CAG	-	ALG9	-	pfam_GPI_mannosylTrfase		0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	HGNC	protein_coding	OTTHUMT00000391485.1	0	0		32	32		0.00		G	NM_024740		111711380	-1	22		29		tier1	no_errors	ENST00000531154	ensembl	human	known	74_37	nonsense	43.14		SNP	1.000	A	22	29
GPR97	222487	genome.wustl.edu	37	16	57714230	57714230	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:57714230G>A	ENST00000333493.4	+	7	882	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	GPR97_ENST00000327655.6_Missense_Mutation_p.G31R|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.G121R	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	241	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGACCTGAGGGGACCGTGTG	0.622													ENSG00000182885																																					0													90.0	86.0	87.0					16																	57714230		2198	4300	6498	SO:0001583	missense	0			-	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.721G>A	16.37:g.57714230G>A	ENSP00000332900:p.Gly241Arg		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.G241R	ENST00000333493.4	37	c.721	CCDS10786.1	16	.	.	.	.	.	.	.	.	.	.	g	0.254	-1.004320	0.02112	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.68181	-0.31;-0.31;-0.31	5.21	-10.4	0.00318	GPS domain (3);	2.036870	0.01845	N	0.035529	T	0.31638	0.0803	N	0.00991	-1.07	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40175	-0.9577	10	0.22109	T	0.4	.	9.6481	0.39881	0.4516:0.3244:0.224:0.0	.	241	Q86Y34	GPR97_HUMAN	R	241;31;121	ENSP00000332900:G241R;ENSP00000331199:G31R;ENSP00000404803:G121R	ENSP00000331199:G31R	G	+	1	0	GPR97	56271731	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.350000	0.07721	-3.113000	0.00241	-0.235000	0.12190	GGG	-	GPR97	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.622	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	0	0		58	58		0.00		G	NM_170776		57714230	+1	21		31		tier1	no_errors	ENST00000333493	ensembl	human	known	74_37	missense	40.38		SNP	0.000	A	21	31
SLC44A4	80736	genome.wustl.edu	37	6	31842372	31842372	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31842372G>A	ENST00000229729.6	-	7	489				SLC44A4_ENST00000544672.1_Intron|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4						acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCACCACCATGGGGCTCAGCC	0.607													ENSG00000204385																																					0																																										SO:0001627	intron_variant	0			-	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.469-75C>T	6.37:g.31842372G>A			A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	R	SNP	-	NULL	ENST00000229729.6	37	NULL	CCDS4724.2	6																																																																																			-	SLC44A4	-	-		0.607	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	0	0		24	24		0.00		G			31842372	-1	9		23		tier1	no_errors	ENST00000465707	ensembl	human	known	74_37	rna	28.12		SNP	0.002	A	9	23
C16orf96	342346	genome.wustl.edu	37	16	4644704	4644704	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:4644704G>A	ENST00000444310.4	+	14	3027		c.e14-1			NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						CCATCCAACAGGCCGAGGTGG	0.652													ENSG00000205832																																					0													30.0	32.0	31.0					16																	4644704		692	1591	2283	SO:0001630	splice_region_variant	0			-		CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.3028-1G>A	16.37:g.4644704G>A				Splice_Site	SNP	-	e14-1	ENST00000444310.4	37	c.3028-1	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112011	0.56398	.	.	ENSG00000205832	ENST00000444310	.	.	.	5.39	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0498	0.36369	0.0983:0.0:0.9017:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf96	4584705	1.000000	0.71417	0.993000	0.49108	0.674000	0.39518	2.710000	0.47169	2.522000	0.85027	0.655000	0.94253	.	-	C16orf96	-	-		0.652	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	0	0		97	97		0.00		G	NM_001145011	Intron	4644704	+1	40		87		tier1	no_errors	ENST00000444310	ensembl	human	known	74_37	splice_site	31.50		SNP	0.959	A	40	87
NT5DC2	64943	genome.wustl.edu	37	3	52562234	52562234	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52562234C>T	ENST00000307076.4	-	6	1025	c.625G>A	c.(625-627)Gag>Aag	p.E209K	NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E246K|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E221K|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E150K	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	209							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TGGTCAAACTCCAGGCTGTGG	0.577													ENSG00000168268																																					0													88.0	82.0	84.0					3																	52562234		2203	4300	6503	SO:0001583	missense	0			-	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.625G>A	3.37:g.52562234C>T	ENSP00000302468:p.Glu209Lys		C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E246K	ENST00000307076.4	37	c.736	CCDS2858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.89|19.89	3.911853|3.911853	0.72983|0.72983	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839;ENST00000471522|ENST00000489316	T;T;T;T;T|.	0.22743|.	1.94;1.94;1.94;1.94;1.94|.	4.65|4.65	4.65|4.65	0.58169|0.58169	HAD-like domain (1);|.	0.050748|.	0.85682|.	D|.	0.000000|.	T|T	0.69833|0.69833	0.3155|0.3155	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	P;P;P|.	0.41188|.	0.741;0.627;0.627|.	P;B;B|.	0.45712|.	0.491;0.281;0.281|.	T|T	0.68595|0.68595	-0.5367|-0.5367	10|5	0.29301|.	T|.	0.29|.	-33.4652|-33.4652	17.519|17.519	0.87782|0.87782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	221;209;246|.	C9JTZ6;Q9H857;E9PAL9|.	.;NT5D2_HUMAN;.|.	K|E	150;209;246;221;57|130	ENSP00000306017:E150K;ENSP00000302468:E209K;ENSP00000406933:E246K;ENSP00000419547:E221K;ENSP00000418583:E57K|.	ENSP00000302468:E209K|.	E|G	-|-	1|2	0|0	NT5DC2|NT5DC2	52537274|52537274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.776000|0.776000	0.43924|0.43924	7.463000|7.463000	0.80869|0.80869	2.158000|2.158000	0.67659|0.67659	0.313000|0.313000	0.20887|0.20887	GAG|GGA	-	NT5DC2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl		0.577	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	0	0		16	16		0.00		C	NM_022908		52562234	-1	10		12		tier1	no_errors	ENST00000422318	ensembl	human	known	74_37	missense	43.48		SNP	1.000	T	10	12
HPS3	84343	genome.wustl.edu	37	3	148871405	148871405	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:148871405C>T	ENST00000296051.2	+	7	1510	c.1370C>T	c.(1369-1371)cCa>cTa	p.P457L	HPS3_ENST00000460120.1_Missense_Mutation_p.P292L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	457					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAAGCCATTCCAGAGAGAAGA	0.428									Hermansky-Pudlak syndrome				ENSG00000163755																																					0													95.0	99.0	97.0					3																	148871405		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	-	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1370C>T	3.37:g.148871405C>T	ENSP00000296051:p.Pro457Leu		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	pirsf_HPS3	p.P457L	ENST00000296051.2	37	c.1370	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889020	0.52014	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.62788	0.0;0.0	5.7	4.81	0.61882	.	0.559637	0.18775	N	0.131497	T	0.61664	0.2365	L	0.57536	1.79	0.45318	D	0.998311	P;P	0.45126	0.851;0.666	B;B	0.40825	0.341;0.149	T	0.66464	-0.5917	10	0.66056	D	0.02	-1.7721	15.9051	0.79423	0.1364:0.8636:0.0:0.0	.	292;457	G5E9V4;Q969F9	.;HPS3_HUMAN	L	457;292	ENSP00000296051:P457L;ENSP00000418230:P292L	ENSP00000296051:P457L	P	+	2	0	HPS3	150354095	0.996000	0.38824	0.661000	0.29709	0.946000	0.59487	2.967000	0.49216	1.351000	0.45789	0.655000	0.94253	CCA	-	HPS3	-	pirsf_HPS3		0.428	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	0	0		41	41		0.00		C	NM_032383		148871405	+1	15		34		tier1	no_errors	ENST00000296051	ensembl	human	known	74_37	missense	30.61		SNP	0.914	T	15	34
KBTBD7	84078	genome.wustl.edu	37	13	41766984	41766984	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:41766984G>A	ENST00000379483.3	-	1	1718	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	470										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGAATGAGGGACAGGAGCCA	0.443													ENSG00000120696																																					0													82.0	74.0	77.0					13																	41766984		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1410C>T	13.37:g.41766984G>A			B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V470	ENST00000379483.3	37	c.1410	CCDS9377.1	13																																																																																			-	KBTBD7	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.443	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	0	0		42	42		0.00		G	NM_032138		41766984	-1	5		24		tier1	no_errors	ENST00000379483	ensembl	human	known	74_37	silent	17.24		SNP	1.000	A	5	24
RP5-1052I5.2	0	genome.wustl.edu	37	1	87598206	87598206	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:87598206G>A	ENST00000370548.2	+	7	839				RP5-1052I5.1_ENST00000484933.2_lincRNA|HS2ST1_ENST00000356813.4_Intron																							AAACCGCAAGGGGGTTTCCGC	0.697													ENSG00000267272																																					0													66.0	71.0	69.0					1																	87598206		692	1591	2283	SO:0001627	intron_variant	0			-																												ENST00000370548.2:c.767-1091G>A	1.37:g.87598206G>A				R	SNP	-	NULL	ENST00000370548.2	37	NULL		1																																																																																			-	RP5-1052I5.1	-	-		0.697	RP5-1052I5.2-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	LOC339524	Clone_based_vega_gene	protein_coding	OTTHUMT00000457517.1	0	0		52	52		0.00		G			87598206	+1	37		73		tier1	no_errors	ENST00000467438	ensembl	human	known	74_37	rna	33.64		SNP	0.000	A	37	73
GALNT14	79623	genome.wustl.edu	37	2	31133826	31133826	+	Missense_Mutation	SNP	C	C	A	rs551834022		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:31133826C>A	ENST00000349752.5	-	15	2239	c.1600G>T	c.(1600-1602)Gtc>Ttc	p.V534F	GALNT14_ENST00000356174.3_Missense_Mutation_p.V501F|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.V499F|GALNT14_ENST00000324589.5_Missense_Mutation_p.V539F|GALNT14_ENST00000406653.1_Missense_Mutation_p.V514F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	534	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGTTGACGACGATTTCCTTG	0.557													ENSG00000158089																																					0													189.0	150.0	163.0					2																	31133826		2203	4300	6503	SO:0001583	missense	0			-	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1600G>T	2.37:g.31133826C>A	ENSP00000288988:p.Val534Phe		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V534F	ENST00000349752.5	37	c.1600	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528789	0.44969	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.26	5.26	0.73747	Ricin B-related lectin (1);Ricin B lectin (3);	0.062132	0.64402	D	0.000005	T	0.64227	0.2579	M	0.67953	2.075	0.58432	D	0.999998	D;D;D;D	0.89917	0.993;1.0;0.997;1.0	D;D;D;D	0.91635	0.963;0.999;0.991;0.999	T	0.59231	-0.7493	10	0.07990	T	0.79	.	17.6483	0.88154	0.0:1.0:0.0:0.0	.	499;539;534;514	F5H263;Q96FL9-3;Q96FL9;B3KV89	.;.;GLT14_HUMAN;.	F	534;539;514;501;499	ENSP00000288988:V534F;ENSP00000314500:V539F;ENSP00000385435:V514F;ENSP00000348497:V501F;ENSP00000415514:V499F	ENSP00000314500:V539F	V	-	1	0	GALNT14	30987330	0.977000	0.34250	0.056000	0.19401	0.012000	0.07955	3.411000	0.52672	2.458000	0.83093	0.655000	0.94253	GTC	-	GALNT14	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.557	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	0	0		27	27		0.00		C	NM_024572		31133826	-1	7		34		tier1	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	17.07		SNP	0.680	A	7	34
FRAS1	80144	genome.wustl.edu	37	4	79343054	79343054	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:79343054C>T	ENST00000325942.6	+	34	5018	c.4578C>T	c.(4576-4578)atC>atT	p.I1526I	FRAS1_ENST00000264895.6_Silent_p.I1526I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1526					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTCCTATCCGGTATTTCA	0.542													ENSG00000138759																																					0													195.0	208.0	204.0					4																	79343054		2048	4169	6217	SO:0001819	synonymous_variant	0			-	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4578C>T	4.37:g.79343054C>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.I1526	ENST00000325942.6	37	c.4578	CCDS54772.1	4																																																																																			-	FRAS1	-	NULL		0.542	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	0	0		67	67		0.00		C			79343054	+1	11		40		tier1	no_errors	ENST00000264895	ensembl	human	known	74_37	silent	21.57		SNP	0.727	T	11	40
FAP	2191	genome.wustl.edu	37	2	163074579	163074579	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:163074579T>A	ENST00000188790.4	-	9	886	c.679A>T	c.(679-681)Aat>Tat	p.N227Y	FAP_ENST00000443424.1_Missense_Mutation_p.N202Y	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TCCGTATCATTAAATTCCGCA	0.333													ENSG00000078098																																					0													106.0	108.0	107.0					2																	163074579		2203	4300	6503	SO:0001583	missense	0			-	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.679A>T	2.37:g.163074579T>A	ENSP00000188790:p.Asn227Tyr			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.N227Y	ENST00000188790.4	37	c.679	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348320	0.82132	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.38077	1.16;1.16	5.74	5.74	0.90152	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.89353	3.025	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.70016	0.967;0.94;0.94	T	0.73688	-0.3904	10	0.87932	D	0	-24.75	16.3426	0.83092	0.0:0.0:0.0:1.0	.	202;227;227	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	Y	227;202	ENSP00000188790:N227Y;ENSP00000411391:N202Y	ENSP00000188790:N227Y	N	-	1	0	FAP	162782825	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.368000	0.79567	2.317000	0.78254	0.460000	0.39030	AAT	-	FAP	-	pfam_Peptidase_S9B		0.333	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	0	0		48	48		0.00		T			163074579	-1	34		33		tier1	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	50.75		SNP	1.000	A	34	33
DEFB125	245938	genome.wustl.edu	37	20	76647	76647	+	Splice_Site	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:76647T>A	ENST00000382410.2	+	2	60	c.60T>A	c.(58-60)ggT>ggA	p.G20G	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	20					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TCTCTACAGGTAGCTTTGAAC	0.323													ENSG00000178591																																					0													80.0	80.0	80.0					20																	76647		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.59-1T>A	20.37:g.76647T>A			A1A502|Q7Z7B9	Silent	SNP	NULL	p.G20	ENST00000382410.2	37	c.60	CCDS12989.2	20																																																																																			-	DEFB125	-	NULL		0.323	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB125	HGNC	protein_coding	OTTHUMT00000077426.2	0	0		39	39		0.00		T	NM_153325	Silent	76647	+1	18		29		tier1	no_errors	ENST00000382410	ensembl	human	known	74_37	silent	38.30		SNP	0.249	A	18	29
CERS3	204219	genome.wustl.edu	37	15	101024834	101024834	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:101024834C>T	ENST00000394113.1	-	7	1018	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CERS3_ENST00000284382.4_Missense_Mutation_p.E110K|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.E110K			Q8IU89	CERS3_HUMAN	ceramide synthase 3	110					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E110*(1)									ACCTGGCGCTCCGTCAAGTTA	0.483													ENSG00000154227																																					1	Substitution - Nonsense(1)	lung(1)											82.0	69.0	73.0					15																	101024834		2203	4300	6503	SO:0001583	missense	0			-		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.328G>A	15.37:g.101024834C>T	ENSP00000377672:p.Glu110Lys		Q8NE64|Q8NEN6	Missense_Mutation	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom	p.E110K	ENST00000394113.1	37	c.328	CCDS10384.1	15	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739900	0.30865	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.96802	-4.13;-4.13	5.26	4.28	0.50868	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.301266	0.35772	N	0.002986	D	0.92838	0.7722	M	0.64997	1.995	0.45899	D	0.998743	P	0.42584	0.784	B	0.39971	0.315	D	0.89472	0.3744	10	0.07030	T	0.85	-17.1421	7.8048	0.29195	0.1643:0.7502:0.0:0.0856	.	110	Q8IU89	CERS3_HUMAN	K	110;121;110	ENSP00000284382:E110K;ENSP00000437640:E110K	ENSP00000284382:E110K	E	-	1	0	CERS3	98842357	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	3.733000	0.55029	2.448000	0.82819	0.655000	0.94253	GAG	-	CERS3	-	pirsf_Longevity_assurance_LAG1_LAC1,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.483	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	HGNC	protein_coding	OTTHUMT00000313594.4	0	0		41	41		0.00		C	NM_178842		101024834	-1	5		22		tier1	no_errors	ENST00000284382	ensembl	human	known	74_37	missense	18.52		SNP	0.996	T	5	22
ZNF491	126069	genome.wustl.edu	37	19	11917961	11917961	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:11917961T>G	ENST00000323169.5	+	3	1524	c.1193T>G	c.(1192-1194)aTt>aGt	p.I398S	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TCCATATATATTAGAATACAT	0.388													ENSG00000177599																																					0													39.0	44.0	43.0					19																	11917961		2203	4299	6502	SO:0001583	missense	0			-	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1193T>G	19.37:g.11917961T>G	ENSP00000313443:p.Ile398Ser		Q3MJ35|Q8NAT8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I398S	ENST00000323169.5	37	c.1193	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	t	10.58	1.390158	0.25118	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.60797	0.16	0.737	0.737	0.18314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39036	0.1063	L	0.39898	1.24	0.09310	N	1	P	0.37038	0.579	B	0.28465	0.09	T	0.35475	-0.9787	9	0.87932	D	0	.	3.6369	0.08153	0.0:0.0:0.4141:0.5858	.	398	Q8N8L2	ZN491_HUMAN	S	398;370	ENSP00000313443:I398S	ENSP00000313443:I398S	I	+	2	0	ZNF491	11778961	0.020000	0.18652	0.001000	0.08648	0.005000	0.04900	1.075000	0.30716	0.615000	0.30124	0.407000	0.27541	ATT	-	ZNF491	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1	0	0		49	49		0.00		T	NM_152356		11917961	+1	30		39		tier1	no_errors	ENST00000323169	ensembl	human	known	74_37	missense	43.48		SNP	0.000	G	30	39
WNT2	7472	genome.wustl.edu	37	7	116918430	116918430	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:116918430C>T	ENST00000265441.3	-	5	1161	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	288					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGCTGTACCCAGGGAGCCT	0.582													ENSG00000105989																																					0													38.0	31.0	33.0					7																	116918430		2203	4300	6503	SO:0001583	missense	0			-	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.862G>A	7.37:g.116918430C>T	ENSP00000265441:p.Gly288Ser		A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.G288S	ENST00000265441.3	37	c.862	CCDS5771.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.689019	0.96784	.	.	ENSG00000105989	ENST00000265441	D	0.84223	-1.82	5.87	5.87	0.94306	.	0.049603	0.85682	D	0.000000	D	0.94928	0.8360	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95648	0.8704	10	0.87932	D	0	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	288;288	A4D0V1;P09544	.;WNT2_HUMAN	S	288	ENSP00000265441:G288S	ENSP00000265441:G288S	G	-	1	0	WNT2	116705666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGT	-	WNT2	-	pfam_Wnt,smart_Wnt		0.582	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2	HGNC	protein_coding	OTTHUMT00000059749.3	0	0		18	18		0.00		C	NM_003391		116918430	-1	9		18		tier1	no_errors	ENST00000265441	ensembl	human	known	74_37	missense	33.33		SNP	1.000	T	9	18
BSN	8927	genome.wustl.edu	37	3	49662558	49662558	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49662558C>T	ENST00000296452.4	+	2	489	c.375C>T	c.(373-375)ccC>ccT	p.P125P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	125					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGATGGTCCCCGCAGGACGC	0.647													ENSG00000164061																																					0													82.0	73.0	76.0					3																	49662558		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.375C>T	3.37:g.49662558C>T			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.P125	ENST00000296452.4	37	c.375	CCDS2800.1	3																																																																																			-	BSN	-	NULL		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	0	0		33	33		0.00		C	NM_003458		49662558	+1	24		34		tier1	no_errors	ENST00000296452	ensembl	human	known	74_37	silent	41.38		SNP	0.999	T	24	34
FGFR1	2260	genome.wustl.edu	37	8	38314944	38314944	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:38314944G>A	ENST00000447712.2	-	2	962	c.21C>T	c.(19-21)ctC>ctT	p.L7L	FGFR1_ENST00000532791.1_Silent_p.L7L|FGFR1_ENST00000425967.3_Silent_p.L40L|FGFR1_ENST00000326324.6_Silent_p.L7L|FGFR1_ENST00000397091.5_Silent_p.L7L|FGFR1_ENST00000397108.4_Silent_p.L7L|FGFR1_ENST00000356207.5_Silent_p.L7L|FGFR1_ENST00000341462.5_Silent_p.L7L|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000397113.2_Silent_p.L7L|FGFR1_ENST00000397103.1_Silent_p.L7L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	7					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCAGAAGAGGAGGCACTTCC	0.582		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						ENSG00000077782																									Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													72.0	63.0	66.0					8																	38314944		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.21C>T	8.37:g.38314944G>A			A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L40	ENST00000447712.2	37	c.120	CCDS6107.2	8																																																																																			-	FGFR1	-	pirsf_FGF_rcpt_fam		0.582	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		0	0		50	50		0.00		G			38314944	-1	10		49		tier1	no_errors	ENST00000425967	ensembl	human	known	74_37	silent	16.67		SNP	1.000	A	10	49
BTN1A1	696	genome.wustl.edu	37	6	26509372	26509372	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:26509372C>T	ENST00000244513.6	+	7	1617	c.1551C>T	c.(1549-1551)atC>atT	p.I517I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	517						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTAAGCTAATCCCTACCCAAC	0.522													ENSG00000124557																																					0													91.0	97.0	95.0					6																	26509372		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1551C>T	6.37:g.26509372C>T			Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.I517	ENST00000244513.6	37	c.1551	CCDS4614.1	6																																																																																			-	BTN1A1	-	NULL		0.522	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1	0	0		55	55		0.00		C	NM_001732		26509372	+1	36		22		tier1	no_errors	ENST00000244513	ensembl	human	known	74_37	silent	62.07		SNP	0.968	T	36	22
RIT2	6014	genome.wustl.edu	37	18	40500701	40500701	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:40500701C>T	ENST00000326695.5	-	4	598				RIT2_ENST00000590910.1_Intron|RIT2_ENST00000282028.4_Missense_Mutation_p.E151K|RIT2_ENST00000589109.1_Missense_Mutation_p.E151K	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2						neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGAATTCTTCCCTTCCAAAC	0.393													ENSG00000152214																																					0													54.0	57.0	56.0					18																	40500701		876	1991	2867	SO:0001627	intron_variant	0			-	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.426+2835G>A	18.37:g.40500701C>T			B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E151K	ENST00000326695.5	37	c.451	CCDS11921.1	18	.	.	.	.	.	.	.	.	.	.	C	8.762	0.923949	0.18056	.	.	ENSG00000152214	ENST00000282028	T	0.70516	-0.49	3.69	-3.35	0.04928	.	.	.	.	.	T	0.53706	0.1813	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38564	-0.9655	8	0.40728	T	0.16	.	9.1371	0.36881	0.0:0.5357:0.0:0.4643	.	151	Q99578-2	.	K	151	ENSP00000282028:E151K	ENSP00000282028:E151K	E	-	1	0	RIT2	38754699	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.543000	0.06084	-0.630000	0.05567	-1.166000	0.01754	GAA	-	RIT2	-	superfamily_P-loop_NTPase,smart_Small_GTPase_Ras		0.393	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT2	HGNC	protein_coding	OTTHUMT00000255852.1	0	0		66	66		0.00		C	NM_002930		40500701	-1	43		19		tier1	no_errors	ENST00000282028	ensembl	human	known	74_37	missense	69.35		SNP	0.000	T	43	19
LOC401281	401281	genome.wustl.edu	37	6	160009865	160009865	+	lincRNA	SNP	G	G	A	rs572641984		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:160009865G>A	ENST00000430078.1	-	0	336																											TAGTCCGAGCGGCCAGCTTTC	0.453													ENSG00000237927	G|||	1	0.000199681	0.0008	0.0	5008	,	,		17910	0.0		0.0	False		,,,				2504	0.0																0													41.0	40.0	40.0					6																	160009865		692	1591	2283			0			-																													6.37:g.160009865G>A				R	SNP	-	NULL	ENST00000430078.1	37	NULL		6																																																																																			-	RP3-393E18.2	-	-		0.453	RP3-393E18.2-001	KNOWN	basic	lincRNA	FLJ27255	Clone_based_vega_gene	lincRNA	OTTHUMT00000280510.1	0	0		40	40		0.00		G			160009865	-1	21		50		tier1	no_errors	ENST00000430078	ensembl	human	known	74_37	rna	29.58		SNP	0.004	A	21	50
NBR2	10230	genome.wustl.edu	37	17	41290786	41290786	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:41290786C>T	ENST00000460115.1	+	0	337					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		gtcatcctttcctcccctgta	0.577													ENSG00000198496																																					0													60.0	55.0	56.0					17																	41290786		1568	3582	5150			0			-	U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41290786C>T			Q3LRJ7	R	SNP	-	NULL	ENST00000460115.1	37	NULL		17																																																																																			-	NBR2	-	-		0.577	NBR2-001	KNOWN	basic	processed_transcript	NBR2	HGNC	pseudogene	OTTHUMT00000277175.1	0	0		174	174		0.00		C	NR_003108		41290786	+1	28		174		tier1	no_errors	ENST00000356906	ensembl	human	known	74_37	rna	13.86		SNP	0.003	T	28	174
FBN2	2201	genome.wustl.edu	37	5	127681107	127681107	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:127681107G>A	ENST00000508053.1	-	30	4133	c.3159C>T	c.(3157-3159)ccC>ccT	p.P1053P	FBN2_ENST00000508989.1_Silent_p.P1020P|FBN2_ENST00000262464.4_Silent_p.P1053P			P35556	FBN2_HUMAN	fibrillin 2	1053					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGCCCCGCGGGGGCACAGCG	0.617													ENSG00000138829																																					0													83.0	88.0	87.0					5																	127681107		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3159C>T	5.37:g.127681107G>A			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P1053	ENST00000508053.1	37	c.3159	CCDS34222.1	5																																																																																			-	FBN2	-	pirsf_FBN,superfamily_TB_dom		0.617	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	0	0		80	80		0.00		G	NM_001999		127681107	-1	41		67		tier1	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	37.96		SNP	0.992	A	41	67
AWAT2	158835	genome.wustl.edu	37	X	69261811	69261811	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:69261811G>A	ENST00000276101.3	-	7	854	c.849C>T	c.(847-849)gtC>gtT	p.V283V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	283					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GAGGCTCCCCGACTGCCAGGG	0.502													ENSG00000147160																									NSCLC(80;1334 1436 9350 24214 26427)												0													95.0	74.0	82.0					X																	69261811		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.848-1C>T	X.37:g.69261811G>A			Q6IEE3|Q6P437	Silent	SNP	pfam_DAGAT	p.V283	ENST00000276101.3	37	c.849	CCDS35320.1	X																																																																																			-	AWAT2	-	pfam_DAGAT		0.502	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	0	0		21	21		0.00		G	NM_001002254	Silent	69261811	-1	17		3		tier1	no_errors	ENST00000276101	ensembl	human	known	74_37	silent	85.00		SNP	0.660	A	17	3
ADAM8	101	genome.wustl.edu	37	10	135076717	135076717	+	Silent	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:135076717A>C	ENST00000445355.3	-	23	2468	c.2418T>G	c.(2416-2418)gtT>gtG	p.V806V	ADAM8_ENST00000415217.3_3'UTR|ADAM8_ENST00000485491.2_Silent_p.V715V	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	806					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCTTCAGGGCAACCTTTGGGC	0.512													ENSG00000151651																																					0													21.0	22.0	22.0					10																	135076717		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.2418T>G	10.37:g.135076717A>C			B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.V806	ENST00000445355.3	37	c.2418	CCDS31319.2	10																																																																																			-	ADAM8	-	NULL		0.512	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM8	HGNC	protein_coding	OTTHUMT00000051118.4	0	0		73	73		0.00		A	NM_001109		135076717	-1	15		65		tier1	no_errors	ENST00000445355	ensembl	human	known	74_37	silent	18.75		SNP	0.986	C	15	65
BACH1	571	genome.wustl.edu	37	21	30724022	30724022	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:30724022C>T	ENST00000504298.1	+	0	68					NR_027655.1				BACH1 intronic transcript 1 (non-protein coding)																		GATACCTGCTCAGACAGCTCT	0.428													ENSG00000248476																																					0													96.0	88.0	91.0					21																	30724022		2203	4300	6503			0			-	AF317902		21q21.3	2012-10-12			ENSG00000248476	ENSG00000248476		"""Long non-coding RNAs"""	40006	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000078881		21.37:g.30724022C>T				R	SNP	-	NULL	ENST00000504298.1	37	NULL		21																																																																																			-	BACH1-IT1	-	-		0.428	BACH1-IT1-001	KNOWN	basic	sense_intronic	BACH1-IT1	HGNC	sense_intronic	OTTHUMT00000171988.1	0	0		70	70		0.00		C			30724022	+1	15		45		tier1	no_errors	ENST00000504298	ensembl	human	known	74_37	rna	25.00		SNP	0.005	T	15	45
FCRL3	115352	genome.wustl.edu	37	1	157665235	157665235	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157665235C>T	ENST00000368184.3	-	8	1586	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	FCRL3_ENST00000368186.5_Missense_Mutation_p.G432E|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	432	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTCCTCCTCCAGAGGGGGC	0.567													ENSG00000160856																																					0													116.0	115.0	116.0					1																	157665235		2203	4300	6503	SO:0001583	missense	0			-	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1295G>A	1.37:g.157665235C>T	ENSP00000357167:p.Gly432Glu		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G438E	ENST00000368184.3	37	c.1313	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.771787	0.49680	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03035	4.07;4.07	5.3	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.519429	0.16288	N	0.221033	T	0.19765	0.0475	H	0.97186	3.955	0.28303	N	0.923033	D;D;D	0.76494	0.999;0.989;0.999	D;D;D	0.75484	0.98;0.978;0.986	T	0.34850	-0.9812	10	0.52906	T	0.07	.	14.4543	0.67407	0.0:1.0:0.0:0.0	.	432;337;432	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	E	432	ENSP00000357169:G432E;ENSP00000357167:G432E	ENSP00000292392:G432E	G	-	2	0	FCRL3	155931859	0.960000	0.32886	0.913000	0.36048	0.153000	0.21895	0.837000	0.27558	2.461000	0.83175	0.655000	0.94253	GGA	-	FCRL3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.567	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	0	0		86	86		0.00		C	NM_052939		157665235	-1	31		93		tier1	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	25.00		SNP	0.935	T	31	93
CASP14	23581	genome.wustl.edu	37	19	15164599	15164599	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15164599C>T	ENST00000427043.3	+	4	541	c.233C>T	c.(232-234)cCc>cTc	p.P78L	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.P78L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	78					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CGGGAAGATCCCGTCAGTTGT	0.557													ENSG00000105141																																					0													82.0	72.0	76.0					19																	15164599		2203	4300	6503	SO:0001583	missense	0			-		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.233C>T	19.37:g.15164599C>T	ENSP00000393417:p.Pro78Leu		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.P78L	ENST00000427043.3	37	c.233	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	c	6.397	0.441393	0.12164	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.03152	4.03;4.03	5.05	2.83	0.33086	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.499875	0.20150	N	0.098186	T	0.02610	0.0079	L	0.41492	1.28	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.48948	-0.8989	10	0.05436	T	0.98	.	3.4158	0.07375	0.2499:0.5926:0.0:0.1575	.	78	P31944	CASPE_HUMAN	L	78	ENSP00000393417:P78L;ENSP00000221740:P78L	ENSP00000221740:P78L	P	+	2	0	CASP14	15025599	0.002000	0.14202	0.000000	0.03702	0.198000	0.23893	0.539000	0.23175	0.390000	0.25115	0.306000	0.20318	CCC	-	CASP14	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20		0.557	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	0	0		49	49		0.00		C	NM_012114		15164599	+1	17		24		tier1	no_errors	ENST00000221740	ensembl	human	known	74_37	missense	41.46		SNP	0.003	T	17	24
WDR87	83889	genome.wustl.edu	37	19	38379309	38379309	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38379309C>T	ENST00000303868.5	-	6	5109	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	WDR87_ENST00000447313.2_Missense_Mutation_p.E1668K	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1629	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						TGGGCCATTTCCCTGTCATCC	0.512													ENSG00000171804																																					0													73.0	53.0	59.0					19																	38379309		692	1591	2283	SO:0001583	missense	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.4885G>A	19.37:g.38379309C>T	ENSP00000368025:p.Glu1629Lys		Q9BWV9	Missense_Mutation	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.E1668K	ENST00000303868.5	37	c.5002	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	8.602	0.887063	0.17540	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.40476	1.03;1.03	4.12	-8.25	0.01025	.	.	.	.	.	T	0.10252	0.0251	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30475	-0.9977	9	0.06099	T	0.92	.	8.7288	0.34485	0.0:0.5135:0.2391:0.2474	.	1629;1668	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	K	1668;1629	ENSP00000405012:E1668K;ENSP00000368025:E1629K	ENSP00000368025:E1629K	E	-	1	0	WDR87	43071149	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.332000	0.07904	-2.031000	0.00928	-0.497000	0.04613	GAA	-	WDR87	-	superfamily_ARM-type_fold		0.512	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	0	0		41	41		0.00		C	XM_940478		38379309	-1	17		30		tier1	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	36.17		SNP	0.000	T	17	30
TNP2	7142	genome.wustl.edu	37	16	11362868	11362868	+	Silent	SNP	C	C	T	rs377306474		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:11362868C>T	ENST00000312693.3	-	1	321	c.252G>A	c.(250-252)aaG>aaA	p.K84K	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	84					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGTTCATAGTCTTTTTGTGGC	0.567													ENSG00000178279																																					1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											134.0	142.0	140.0					16																	11362868		2079	4208	6287	SO:0001819	synonymous_variant	0			-		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.252G>A	16.37:g.11362868C>T			Q9NZB0	Silent	SNP	pfam_TP2	p.K84	ENST00000312693.3	37	c.252	CCDS45410.1	16																																																																																			-	TNP2	-	pfam_TP2		0.567	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNP2	HGNC	protein_coding	OTTHUMT00000417806.1	0	0		101	101		0.00		C	NM_005425		11362868	-1	48		99		tier1	no_errors	ENST00000312693	ensembl	human	known	74_37	silent	32.65		SNP	0.000	T	48	99
FSTL5	56884	genome.wustl.edu	37	4	162307514	162307514	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:162307514C>T	ENST00000306100.5	-	16	2365	c.1929G>A	c.(1927-1929)aaG>aaA	p.K643K	FSTL5_ENST00000536695.1_Silent_p.K642K|FSTL5_ENST00000427802.2_Silent_p.K633K|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.K642K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	643						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)		ACTTATAGTCCTTCAAGTTAA	0.403													ENSG00000168843																																					0													77.0	71.0	73.0					4																	162307514		2203	4300	6503	SO:0001819	synonymous_variant	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.1929G>A	4.37:g.162307514C>T			E9PCP6|Q9NSW7|Q9ULF7	Silent	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.K643	ENST00000306100.5	37	c.1929	CCDS3802.1	4																																																																																			-	FSTL5	-	NULL		0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	0	0		46	46		0.00		C	NM_020116		162307514	-1	23		48		tier1	no_errors	ENST00000306100	ensembl	human	known	74_37	silent	32.39		SNP	1.000	T	23	48
CACNA1I	8911	genome.wustl.edu	37	22	40075778	40075778	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:40075778G>A	ENST00000402142.3	+	33	5446	c.5446G>A	c.(5446-5448)Ggg>Agg	p.G1816R	CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1781R|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1816R|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G1822R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1781R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1781R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1816					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCTTGGAGGGGGAGCTGAC	0.592													ENSG00000100346																																					0													45.0	50.0	48.0					22																	40075778		1992	4172	6164	SO:0001583	missense	0			-	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5446G>A	22.37:g.40075778G>A	ENSP00000385019:p.Gly1816Arg		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.G1822R	ENST00000402142.3	37	c.5464	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479902	0.63849	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.99176	-5.5;-5.47;-5.31;-5.26;-5.52;-5.44	4.13	4.13	0.48395	.	51.894800	0.00166	N	0.000000	D	0.99302	0.9756	M	0.68952	2.095	0.53688	D	0.99997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.95214	0.8328	10	0.33940	T	0.23	.	16.7705	0.85536	0.0:0.0:1.0:0.0	.	1781;1816;1781;1816	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	R	1816;1781;1816;1781;1822;1781	ENSP00000385019:G1816R;ENSP00000384093:G1781R;ENSP00000383887:G1816R;ENSP00000385680:G1781R;ENSP00000337829:G1822R;ENSP00000383028:G1781R	ENSP00000337829:G1822R	G	+	1	0	CACNA1I	38405724	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	9.289000	0.96061	2.004000	0.58718	0.561000	0.74099	GGG	-	CAC1I	-	NULL		0.592	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CAC1I	HGNC	protein_coding	OTTHUMT00000321290.1	0	0		53	53		0.00		G	NM_001003406		40075778	+1	23		50		tier1	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	31.51		SNP	1.000	A	23	50
AP1S2	8905	genome.wustl.edu	37	X	15851087	15851087	+	Intron	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:15851087T>C	ENST00000329235.2	-	5	670				AP1S2_ENST00000479184.1_Intron|AP1S2_ENST00000421527.2_Missense_Mutation_p.K199R|AP1S2_ENST00000545766.1_Intron|AP1S2_ENST00000380291.1_Missense_Mutation_p.K157R	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					GTACGCTTTCTTAAACCCAAT	0.323													ENSG00000182287																																					0																																										SO:0001627	intron_variant	0			-	AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"""mental retardation, X-linked 59"", ""mental retardation, X-linked, syndromic 5"", ""Pettigrew X-linked mental retardation syndrome"""	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.427-5592A>G	X.37:g.15851087T>C			B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	p.K199R	ENST00000329235.2	37	c.596	CCDS14173.1	X	.	.	.	.	.	.	.	.	.	.	T	7.063	0.566856	0.13560	.	.	ENSG00000182287	ENST00000380291;ENST00000421527	.	.	.	4.26	4.26	0.50523	.	4.391090	0.00725	N	0.000915	T	0.52058	0.1711	.	.	.	0.22330	N	0.999193	P	0.52842	0.956	P	0.62184	0.899	T	0.44544	-0.9321	8	0.13108	T	0.6	2.4211	8.7342	0.34519	0.0:0.0:0.0:1.0	.	199	B4DSU4	.	R	157;199	.	ENSP00000369645:K157R	K	-	2	0	AP1S2	15761008	0.776000	0.28616	0.995000	0.50966	0.982000	0.71751	0.506000	0.22658	1.883000	0.54544	0.481000	0.45027	AAG	-	AP1S2	-	NULL		0.323	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1S2	HGNC	protein_coding	OTTHUMT00000055893.1	0	0		18	18		0.00		T	NM_003916		15851087	-1	19		7		tier1	no_errors	ENST00000421527	ensembl	human	known	74_37	missense	73.08		SNP	0.995	C	19	7
CHD6	84181	genome.wustl.edu	37	20	40050121	40050121	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:40050121G>A	ENST00000373233.3	-	31	5331	c.5154C>T	c.(5152-5154)agC>agT	p.S1718S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1718					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTGAAAAGAGCTTGGTTCTT	0.448													ENSG00000124177																																					0													95.0	89.0	91.0					20																	40050121		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5154C>T	20.37:g.40050121G>A			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1718	ENST00000373233.3	37	c.5154	CCDS13317.1	20																																																																																			-	CHD6	-	NULL		0.448	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	0	0		43	43		0.00		G			40050121	-1	31		44		tier1	no_errors	ENST00000373233	ensembl	human	known	74_37	silent	41.33		SNP	0.879	A	31	44
MSTN	2660	genome.wustl.edu	37	2	190924815	190924815	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:190924815G>A	ENST00000260950.4	-	2	852	c.720C>T	c.(718-720)acC>acT	p.T240T	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	240					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GTCCTGGGAAGGTTACAGCAA	0.348													ENSG00000138379																																					0													133.0	131.0	132.0					2																	190924815		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.720C>T	2.37:g.190924815G>A			A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.T240	ENST00000260950.4	37	c.720	CCDS2303.1	2																																																																																			-	MSTN	-	pfam_TGF-b_N		0.348	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2	0	0		40	40		0.00		G	NM_005259		190924815	-1	5		35		tier1	no_errors	ENST00000260950	ensembl	human	known	74_37	silent	12.50		SNP	1.000	A	5	35
RSPO3	84870	genome.wustl.edu	37	6	127517048	127517048	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:127517048G>A	ENST00000356698.4	+	5	1304	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	RSPO3_ENST00000368317.3_Missense_Mutation_p.E239K	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	239					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CAAAAGTCTGGAATCCAGCAA	0.388													ENSG00000146374																																					0													120.0	121.0	120.0					6																	127517048		2203	4300	6503	SO:0001583	missense	0			-	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.715G>A	6.37:g.127517048G>A	ENSP00000349131:p.Glu239Lys		B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E239K	ENST00000356698.4	37	c.715	CCDS5135.1	6	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565044	0.45694	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	T;T	0.78924	-1.22;-1.22	5.65	5.65	0.86999	.	0.126265	0.51477	D	0.000090	T	0.52075	0.1712	N	0.24115	0.695	0.41849	D	0.990165	P;B	0.39480	0.675;0.155	B;B	0.36666	0.23;0.051	T	0.57705	-0.7765	10	0.13108	T	0.6	-38.0285	17.9148	0.88945	0.0:0.0:1.0:0.0	.	239;239	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	K	239	ENSP00000349131:E239K;ENSP00000357300:E239K	ENSP00000349131:E239K	E	+	1	0	RSPO3	127558741	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	6.061000	0.71148	2.660000	0.90430	0.467000	0.42956	GAA	-	RSPO3	-	NULL		0.388	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO3	HGNC	protein_coding	OTTHUMT00000042111.1	0	0		58	58		0.00		G	NM_032784		127517048	+1	19		45		tier1	no_errors	ENST00000368317	ensembl	human	known	74_37	missense	29.69		SNP	1.000	A	19	45
ACAT2	39	genome.wustl.edu	37	6	160182503	160182503	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:160182503G>A	ENST00000367048.4	+	0	1144				SOD2_ENST00000546087.1_5'UTR|SOD2_ENST00000535372.1_5'UTR|ACAT2_ENST00000541436.1_5'Flank	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2						lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCGCACCGAGACGCTCCTAG	0.592													ENSG00000112096																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.-617G>A	6.37:g.160182503G>A			B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	R	SNP	-	NULL	ENST00000367048.4	37	NULL	CCDS5268.1	6																																																																																			-	SOD2	-	-		0.592	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOD2	HGNC	protein_coding	OTTHUMT00000042912.1	0	0		48	48		0.00		G	NM_005891		160182503	-1	36		60		tier1	no_errors	ENST00000535372	ensembl	human	known	74_37	rna	37.50		SNP	0.003	A	36	60
COBL	23242	genome.wustl.edu	37	7	51150797	51150797	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:51150797C>T	ENST00000265136.7	-	7	1262				COBL_ENST00000395542.2_Missense_Mutation_p.G434R|COBL_ENST00000395540.2_Intron|COBL_ENST00000441453.1_Intron	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein						actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCGCCTTCCCCGGGAAAGCTG	0.607													ENSG00000106078																									NSCLC(189;2119 2138 12223 30818 34679)												0																																										SO:0001627	intron_variant	0			-	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1096+2065G>A	7.37:g.51150797C>T			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.G434R	ENST00000265136.7	37	c.1300	CCDS34637.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.735|9.735	1.163359|1.163359	0.21538|0.21538	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000431948;ENST00000395542|ENST00000452534	T;T|.	0.10477|.	2.87;2.87|.	5.56|5.56	3.51|3.51	0.40186|0.40186	.|.	.|.	.|.	.|.	.|.	T|T	0.26085|0.26085	0.0636|0.0636	.|.	.|.	.|.	0.25123|0.25123	N|N	0.990624|0.990624	B|.	0.24651|.	0.108|.	B|.	0.20184|.	0.028|.	T|T	0.16394|0.16394	-1.0404|-1.0404	8|4	0.20519|.	T|.	0.43|.	.|.	4.2814|4.2814	0.10834|0.10834	0.0:0.5692:0.0:0.4308|0.0:0.5692:0.0:0.4308	.|.	409|.	O75128-7|.	.|.	R|Q	237;434|327	ENSP00000413498:G237R;ENSP00000378912:G434R|.	ENSP00000378912:G434R|.	G|R	-|-	1|2	0|0	COBL|COBL	51118291|51118291	0.631000|0.631000	0.27164|0.27164	0.811000|0.811000	0.32455|0.32455	0.563000|0.563000	0.35712|0.35712	1.543000|1.543000	0.36147|0.36147	1.337000|1.337000	0.45525|0.45525	0.585000|0.585000	0.79938|0.79938	GGG|CGG	-	COBL	-	NULL		0.607	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	0	0		88	88		0.00		C	NM_015198		51150797	-1	35		134		tier1	no_errors	ENST00000395542	ensembl	human	known	74_37	missense	20.71		SNP	0.890	T	35	134
MIR3689A	100500846	genome.wustl.edu	37	9	137742439	137742439	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:137742439C>T	ENST00000578854.1	-	0	0				MIR3689D1_ENST00000579706.1_RNA|AL603650.2_ENST00000581079.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.4_ENST00000583817.1_RNA|AL603650.3_ENST00000582742.1_RNA|MIR3689C_ENST00000581239.1_RNA|MIR3689B_ENST00000581772.1_RNA|MIR3689F_ENST00000579617.1_RNA|MIR3689E_ENST00000582479.1_RNA|MIR3689D2_ENST00000580187.1_RNA	NR_037460.1				microRNA 3689a																		TCACACCTCCCAGGAACCACG	0.572													ENSG00000266827																																					0																																												0			-			9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137742439C>T				R	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			-	MIR3689E	-	-		0.572	MIR3689A-201	KNOWN	basic	miRNA	MIR3689E	HGNC	miRNA		0	0		87	87		0.00		C	NR_037460		137742439	-1	38		54		tier1	no_errors	ENST00000582479	ensembl	human	known	74_37	rna	41.30		SNP	0.860	T	38	54
FAM196B	100131897	genome.wustl.edu	37	5	169309827	169309827	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:169309827G>A	ENST00000377365.3	-	2	2457	c.1076C>T	c.(1075-1077)gCa>gTa	p.A359V	DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000523351.1_Intron|DOCK2_ENST00000256935.8_Intron|FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000520908.1_Intron	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	359										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						GGGGTTGTTTGCCGTCTGCTC	0.488													ENSG00000204767																																					0													103.0	87.0	92.0					5																	169309827		692	1591	2283	SO:0001583	missense	0			-		CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.1076C>T	5.37:g.169309827G>A	ENSP00000366582:p.Ala359Val			Missense_Mutation	SNP	NULL	p.A359V	ENST00000377365.3	37	c.1076	CCDS47336.1	5	.	.	.	.	.	.	.	.	.	.	G	1.314	-0.601314	0.03744	.	.	ENSG00000204767	ENST00000377365	T	0.45668	0.89	5.09	3.01	0.34805	.	0.411806	0.24366	N	0.039143	T	0.24470	0.0593	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.10359	-1.0633	10	0.27082	T	0.32	-2.7541	6.373	0.21491	0.0956:0.0:0.5159:0.3885	.	359	A6NMK8	F196B_HUMAN	V	359	ENSP00000366582:A359V	ENSP00000366582:A359V	A	-	2	0	FAM196B	169242405	0.001000	0.12720	0.004000	0.12327	0.051000	0.14879	1.106000	0.31098	1.294000	0.44707	0.655000	0.94253	GCA	-	FAM196B	-	NULL		0.488	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196B	HGNC	protein_coding	OTTHUMT00000371629.1	0	0		51	51		0.00		G	NM_001129891		169309827	-1	29		40		tier1	no_errors	ENST00000377365	ensembl	human	known	74_37	missense	42.03		SNP	0.013	A	29	40
EIF4B	1975	genome.wustl.edu	37	12	53427627	53427627	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:53427627G>A	ENST00000262056.9	+	9	1343	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Silent_p.R300R|EIF4B_ENST00000420463.3_Silent_p.R339R	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	339					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TAAAGCCTCGGAGTACTCCTA	0.468													ENSG00000063046																																					0													70.0	64.0	66.0					12																	53427627		1811	4076	5887	SO:0001819	synonymous_variant	0			-	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1017G>A	12.37:g.53427627G>A			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R339	ENST00000262056.9	37	c.1017	CCDS41788.1	12																																																																																			-	EIF4B	-	NULL		0.468	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	0	0		93	93		0.00		G	NM_001417		53427627	+1	17		69		tier1	no_errors	ENST00000262056	ensembl	human	known	74_37	silent	19.77		SNP	1.000	A	17	69
LRP2	4036	genome.wustl.edu	37	2	170050305	170050305	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:170050305C>T	ENST00000263816.3	-	47	9081	c.8796G>A	c.(8794-8796)ggG>ggA	p.G2932G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2932	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACTCATATCCCCACAGTCAT	0.478													ENSG00000081479																																					0													257.0	222.0	234.0					2																	170050305		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8796G>A	2.37:g.170050305C>T			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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.G2932	ENST00000263816.3	37	c.8796	CCDS2232.1	2																																																																																			-	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	0	0		51	51		0.00		C	NM_004525		170050305	-1	9		67		tier1	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	11.84		SNP	0.998	T	9	67
RHOU	58480	genome.wustl.edu	37	1	228879287	228879287	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228879287G>A	ENST00000366691.3	+	3	1243	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GCTGTGCGCCGAGGAAATCAA	0.493													ENSG00000116574																																					0													82.0	91.0	88.0					1																	228879287		2203	4300	6503	SO:0001583	missense	0			-		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.577G>A	1.37:g.228879287G>A	ENSP00000355652:p.Glu193Lys			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,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.E193K	ENST00000366691.3	37	c.577	CCDS1575.1	1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517367	0.27123	.	.	ENSG00000116574	ENST00000366691	T	0.75704	-0.96	4.73	4.73	0.59995	Small GTP-binding protein domain (1);	0.219510	0.45126	D	0.000381	T	0.48607	0.1509	N	0.10707	0.03	0.44282	D	0.997143	B	0.31705	0.336	B	0.23275	0.045	T	0.55761	-0.8090	10	0.02654	T	1	.	15.2086	0.73198	0.0:0.0:1.0:0.0	.	193	Q7L0Q8	RHOU_HUMAN	K	193	ENSP00000355652:E193K	ENSP00000355652:E193K	E	+	1	0	RHOU	226945910	1.000000	0.71417	0.974000	0.42286	0.989000	0.77384	3.051000	0.49885	2.439000	0.82584	0.655000	0.94253	GAG	-	RHOU	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.493	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOU	HGNC	protein_coding	OTTHUMT00000092555.1	0	0		27	27		0.00		G	NM_021205		228879287	+1	13		50		tier1	no_errors	ENST00000366691	ensembl	human	known	74_37	missense	20.63		SNP	0.982	A	13	50
LRRC56	115399	genome.wustl.edu	37	11	552576	552576	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:552576C>T	ENST00000270115.7	+	13	1689	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	397										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGCCCCCTCCCCTATAGGCA	0.652													ENSG00000161328																																					0													16.0	17.0	16.0					11																	552576		2177	4286	6463	SO:0001583	missense	0			-		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1189C>T	11.37:g.552576C>T	ENSP00000270115:p.Pro397Ser		Q8N3Q4	Missense_Mutation	SNP	NULL	p.P397S	ENST00000270115.7	37	c.1189	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	C	5.925	0.354684	0.11239	.	.	ENSG00000161328	ENST00000270115	T	0.07688	3.17	3.84	1.93	0.25924	.	0.361690	0.21208	N	0.078350	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B	0.19445	0.036	B	0.15870	0.014	T	0.44952	-0.9294	10	0.06365	T	0.9	.	5.6009	0.17353	0.0:0.7495:0.0:0.2505	.	397	Q8IYG6	LRC56_HUMAN	S	397	ENSP00000270115:P397S	ENSP00000270115:P397S	P	+	1	0	LRRC56	542576	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	0.201000	0.17276	0.963000	0.38082	0.561000	0.74099	CCC	-	LRRC56	-	NULL		0.652	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	0	0		109	109		0.00		C	NM_198075		552576	+1	35		139		tier1	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	20.11		SNP	0.005	T	35	139
NLGN2	57555	genome.wustl.edu	37	17	7320508	7320508	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7320508C>T	ENST00000302926.2	+	7	1971	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	RP11-104H15.7_ENST00000575310.1_RNA|NLGN2_ENST00000575301.1_Missense_Mutation_p.P633L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	633					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|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)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCGCCTCGTCCCCCCGCTGGC	0.756													ENSG00000169992																																					0													25.0	19.0	21.0					17																	7320508		2178	4247	6425	SO:0001583	missense	0			-	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1898C>T	17.37:g.7320508C>T	ENSP00000305288:p.Pro633Leu		Q9P2I1	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P633L	ENST00000302926.2	37	c.1898	CCDS11103.1	17	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874918	0.17395	.	.	ENSG00000169992	ENST00000302926	T	0.65916	-0.18	4.44	4.44	0.53790	.	0.602886	0.16251	N	0.222697	T	0.50137	0.1598	N	0.25647	0.755	0.45822	D	0.998692	B	0.18968	0.032	B	0.19391	0.025	T	0.50021	-0.8876	10	0.54805	T	0.06	.	12.7595	0.57356	0.0:1.0:0.0:0.0	.	633	Q8NFZ4	NLGN2_HUMAN	L	633	ENSP00000305288:P633L	ENSP00000305288:P633L	P	+	2	0	NLGN2	7261232	0.001000	0.12720	0.796000	0.32109	0.058000	0.15608	0.484000	0.22308	2.467000	0.83353	0.561000	0.74099	CCC	-	NLGN2	-	NULL		0.756	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	HGNC	protein_coding	OTTHUMT00000226941.2	0	0		15	15		0.00		C	NM_020795		7320508	+1	11		11		tier1	no_errors	ENST00000302926	ensembl	human	known	74_37	missense	50.00		SNP	0.915	T	11	11
HCN1	348980	genome.wustl.edu	37	5	45262298	45262298	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:45262298G>A	ENST00000303230.4	-	8	2455	c.2398C>T	c.(2398-2400)Ctg>Ttg	p.L800L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	800					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						CTGGAAATCAGAGTGGACACC	0.657													ENSG00000164588																																					0													51.0	50.0	50.0					5																	45262298		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.2398C>T	5.37:g.45262298G>A				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.L800	ENST00000303230.4	37	c.2398	CCDS3952.1	5																																																																																			-	HCN1	-	NULL		0.657	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	0	0		28	28		0.00		G	NM_021072		45262298	-1	15		13		tier1	no_errors	ENST00000303230	ensembl	human	known	74_37	silent	53.57		SNP	0.858	A	15	13
SPDYC	387778	genome.wustl.edu	37	11	64939416	64939416	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64939416G>T	ENST00000377185.2	+	3	284	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACCCTCAGAGGACAGTTTTGT	0.532													ENSG00000204710																																					0													81.0	77.0	78.0					11																	64939416		2201	4297	6498	SO:0001583	missense	0			-	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.202G>T	11.37:g.64939416G>T	ENSP00000366390:p.Asp68Tyr			Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.D68Y	ENST00000377185.2	37	c.202	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548114	0.27652	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.07	2.2	0.27929	.	0.335627	0.19335	U	0.116813	T	0.49372	0.1553	M	0.78344	2.41	0.29420	N	0.860606	P	0.52577	0.954	P	0.52109	0.69	T	0.51317	-0.8721	9	0.87932	D	0	.	4.182	0.10380	0.267:0.3088:0.4242:0.0	.	68	Q5MJ68	SPDYC_HUMAN	Y	68	.	ENSP00000366390:D68Y	D	+	1	0	SPDYC	64695992	1.000000	0.71417	0.982000	0.44146	0.450000	0.32258	1.397000	0.34543	0.389000	0.25086	0.655000	0.94253	GAC	-	SPDYC	-	pfam_Cell_cycle_regulatory_Spy1		0.532	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	0	0		42	42		0.00		G	NM_001008778		64939416	+1	26		38		tier1	no_errors	ENST00000377185	ensembl	human	known	74_37	missense	40.62		SNP	0.998	T	26	38
LRRD1	401387	genome.wustl.edu	37	7	91792710	91792710	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:91792710C>T	ENST00000458448.1	-	2	2007	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000430130.2_Missense_Mutation_p.G603R|LRRD1_ENST00000454089.2_5'UTR|LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000343318.5_Intron			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	603					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						TTCTGGATTCCTTTTAAATTA	0.313													ENSG00000240720																																					0													100.0	77.0	84.0					7																	91792710		692	1590	2282	SO:0001583	missense	0			-	BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.1807G>A	7.37:g.91792710C>T	ENSP00000405987:p.Gly603Arg		B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death_domain	p.G603R	ENST00000458448.1	37	c.1807	CCDS55124.1	7	.	.	.	.	.	.	.	.	.	.	C	2.616	-0.289639	0.05568	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	T;T	0.24151	1.87;1.87	5.15	1.03	0.20045	.	.	.	.	.	T	0.10208	0.0250	N	0.10760	0.04	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.20306	-1.0279	9	0.13853	T	0.58	.	6.0408	0.19732	0.0:0.5671:0.1305:0.3024	.	603	A4D1F6	LRRD1_HUMAN	R	603	ENSP00000405987:G603R;ENSP00000411568:G603R	ENSP00000411568:G603R	G	-	1	0	LRRD1	91630646	0.041000	0.20044	0.998000	0.56505	0.976000	0.68499	0.177000	0.16801	0.178000	0.19917	0.585000	0.79938	GGA	-	LRRD1	-	NULL		0.313	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	0	0		74	74		0.00		C	NM_001045475		91792710	-1	22		54		tier1	no_errors	ENST00000430130	ensembl	human	known	74_37	missense	28.95		SNP	0.905	T	22	54
CYP2E1	1571	genome.wustl.edu	37	10	135350608	135350608	+	Nonsense_Mutation	SNP	C	C	T	rs200228968		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:135350608C>T	ENST00000463117.2	+	9	1281	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Nonsense_Mutation_p.R337*			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	337					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGGGCCAAGCCGAATCCCTGC	0.527									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				ENSG00000130649	.|||	1	0.000199681	0.0	0.0	5008	,	,		17203	0.001		0.0	False		,,,				2504	0.0																0													127.0	102.0	111.0					10																	135350608		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	GMAF=0.0005	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1009C>T	10.37:g.135350608C>T	ENSP00000440689:p.Arg337*		Q5VZD5|Q6NWT9|Q9UK47	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R337*	ENST00000463117.2	37	c.1009	CCDS7686.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.96	1.793139	0.31685	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	.	.	.	4.49	2.55	0.30701	.	0.196719	0.44285	D	0.000469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4684	0.44622	0.5127:0.4873:0.0:0.0	.	.	.	.	X	337;337;250;200	.	ENSP00000252945:R337X	R	+	1	2	CYP2E1	135200598	0.138000	0.22547	0.008000	0.14137	0.003000	0.03518	0.548000	0.23314	0.595000	0.29777	0.598000	0.82781	CGA	rs200228968	CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2E-like		0.527	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2	0	0		30	30		0.00		C	NM_000773		135350608	+1	6		36		tier1	no_errors	ENST00000252945	ensembl	human	known	74_37	nonsense	14.29		SNP	0.042	T	6	36
MROH7	374977	genome.wustl.edu	37	1	55145059	55145059	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55145059G>A	ENST00000421030.2	+	12	2458	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	MROH7_ENST00000339553.5_Missense_Mutation_p.E725K|MROH7_ENST00000454855.2_Missense_Mutation_p.E243K|MROH7_ENST00000395690.2_Missense_Mutation_p.E725K|MROH7_ENST00000409996.1_Missense_Mutation_p.E293K|MROH7_ENST00000545244.1_Missense_Mutation_p.E293K|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.E725K	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	725						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTGGCCTCGGAGGTCATGCT	0.647													ENSG00000271723																																					0													37.0	45.0	42.0					1																	55145059		2078	4224	6302	SO:0001583	missense	0			-	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2173G>A	1.37:g.55145059G>A	ENSP00000396622:p.Glu725Lys		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E725K	ENST00000421030.2	37	c.2173	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688696	0.88639	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	4.88	4.88	0.63580	.	0.156944	0.30483	N	0.009538	T	0.43919	0.1269	M	0.62723	1.935	0.35691	D	0.814848	D;D;B	0.56035	0.969;0.974;0.372	P;P;B	0.55011	0.766;0.647;0.098	T	0.52895	-0.8514	10	0.30854	T	0.27	-4.959	13.5523	0.61738	0.0:0.0:1.0:0.0	.	725;725;293	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	K	725;293;754;725;293;243;725	ENSP00000396622:E725K;ENSP00000442333:E293K;ENSP00000343211:E725K;ENSP00000387048:E293K;ENSP00000401130:E243K;ENSP00000379044:E725K	ENSP00000343211:E725K	E	+	1	0	HEATR8	54917647	0.996000	0.38824	0.990000	0.47175	0.995000	0.86356	2.967000	0.49216	2.250000	0.74265	0.557000	0.71058	GAG	-	MROH7-TTC4	-	superfamily_ARM-type_fold		0.647	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1	0	0		34	34		0.00		G	NM_198547		55145059	+1	13		36		tier1	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	26.53		SNP	0.986	A	13	36
MRPL12	6182	genome.wustl.edu	37	17	79671380	79671380	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79671380C>T	ENST00000333676.3	+	2	326	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	SLC25A10_ENST00000571730.1_Missense_Mutation_p.P61S|SLC25A10_ENST00000541223.1_Missense_Mutation_p.P61S|RP13-1032I1.7_ENST00000575312.1_RNA	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	61					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAAGGAGTACCCCCCCAAGAT	0.602													ENSG00000183048																																					0													71.0	62.0	65.0					17																	79671380		2203	4300	6503	SO:0001583	missense	0			-	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.181C>T	17.37:g.79671380C>T	ENSP00000333837:p.Pro61Ser		Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.P61S	ENST00000333676.3	37	c.181	CCDS11785.1	17	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751811	0.69533	.	.	ENSG00000183048	ENST00000541223;ENST00000333676;ENST00000332396	T;T	0.78364	-1.17;1.11	4.89	4.89	0.63831	.	0.179524	0.51477	D	0.000097	T	0.55752	0.1940	N	0.13003	0.285	0.80722	D	1	B;P	0.45474	0.01;0.859	B;B	0.40256	0.006;0.324	T	0.59010	-0.7534	10	0.06891	T	0.86	-1.2422	9.2729	0.37681	0.0:0.8707:0.0:0.1293	.	61;61	B4DLN1;P52815	.;RM12_HUMAN	S	61	ENSP00000439565:P61S;ENSP00000333837:P61S	ENSP00000330017:P61S	P	+	1	0	SLC25A10	77281785	0.994000	0.37717	0.994000	0.49952	0.955000	0.61496	2.707000	0.47143	2.554000	0.86153	0.655000	0.94253	CCC	-	SLC25A10	-	NULL		0.602	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A10	HGNC	protein_coding	OTTHUMT00000440812.1	0	0		32	32		0.00		C	NM_002949		79671380	+1	20		45		tier1	no_errors	ENST00000541223	ensembl	human	known	74_37	missense	30.77		SNP	1.000	T	20	45
SRRM5	100170229	genome.wustl.edu	37	19	44116755	44116755	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44116755C>T	ENST00000607544.1	+	3	804	c.482C>T	c.(481-483)cCc>cTc	p.P161L	SRRM5_ENST00000417606.1_Missense_Mutation_p.P161L|SRRM5_ENST00000526798.1_Missense_Mutation_p.P176L|ZNF428_ENST00000300811.3_Intron			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	161	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						GTGAGAACTCCCACTTCACAG	0.582													ENSG00000226763																																					0													58.0	65.0	63.0					19																	44116755		692	1591	2283	SO:0001583	missense	0			-	AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.482C>T	19.37:g.44116755C>T	ENSP00000476253:p.Pro161Leu		B4DNF0	Missense_Mutation	SNP	NULL	p.P176L	ENST00000607544.1	37	c.527	CCDS46095.1	19	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847625	0.51164	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	T	0.53690	0.1812	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.50964	-0.8765	8	0.27785	T	0.31	.	14.5326	0.67936	0.0:1.0:0.0:0.0	.	161	B3KS81	SRRM5_HUMAN	L	176;161	.	ENSP00000414512:P161L	P	+	2	0	SRRM5	48808595	0.008000	0.16893	0.995000	0.50966	0.276000	0.26787	1.776000	0.38594	2.543000	0.85770	0.655000	0.94253	CCC	-	SRRM5	-	NULL		0.582	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	SRRM5	HGNC	protein_coding	OTTHUMT00000384398.2	0	0		64	64		0.00		C	NM_001145641		44116755	+1	38		49		tier1	no_errors	ENST00000526798	ensembl	human	known	74_37	missense	43.18		SNP	0.989	T	38	49
GABRA6	2559	genome.wustl.edu	37	5	161113237	161113237	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:161113237C>T	ENST00000274545.5	+	2	473	c.40C>T	c.(40-42)Cta>Tta	p.L14L	GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Splice_Site_p.L14L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	14					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TACACACAGGCTAGAAAATGC	0.453										TCGA Ovarian(5;0.080)			ENSG00000145863																																					0													76.0	74.0	75.0					5																	161113237		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.39-1C>T	5.37:g.161113237C>T			A8K096|Q4VAV2	Silent	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_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L14	ENST00000274545.5	37	c.40	CCDS4356.1	5																																																																																			-	GABRA6	-	prints_GABBAa6_rcpt		0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	0	0		56	56		0.00		C		Silent	161113237	+1	9		46		tier1	no_errors	ENST00000274545	ensembl	human	known	74_37	silent	16.36		SNP	0.010	T	9	46
THRAP3	9967	genome.wustl.edu	37	1	36752122	36752122	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36752122C>T	ENST00000354618.5	+	4	515	c.291C>T	c.(289-291)ggC>ggT	p.G97G	THRAP3_ENST00000469141.2_Silent_p.G97G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	97	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCCATGGGGCCAATATAACC	0.502			T	USP6	aneurysmal bone cysts								ENSG00000054118																									Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													96.0	96.0	96.0					1																	36752122		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.291C>T	1.37:g.36752122C>T			D3DPS5|Q5VTK6	Silent	SNP	NULL	p.G97	ENST00000354618.5	37	c.291	CCDS405.1	1																																																																																			-	THRAP3	-	NULL		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	0	0		63	63		0.00		C	NM_005119		36752122	+1	23		59		tier1	no_errors	ENST00000354618	ensembl	human	known	74_37	silent	27.71		SNP	1.000	T	23	59
ZNF174	7727	genome.wustl.edu	37	16	3458440	3458440	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3458440C>T	ENST00000268655.4	+	3	1330	c.745C>T	c.(745-747)Cca>Tca	p.P249S	ZNF174_ENST00000571936.1_Missense_Mutation_p.P249S	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	249					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GAATCCTGAACCAAGAGGGGC	0.507													ENSG00000103343																																					0													94.0	85.0	88.0					16																	3458440		2197	4300	6497	SO:0001583	missense	0			-	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.745C>T	16.37:g.3458440C>T	ENSP00000268655:p.Pro249Ser		Q53Y68|Q9BQ34	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P249S	ENST00000268655.4	37	c.745	CCDS10504.1	16	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272280	0.01421	.	.	ENSG00000103343	ENST00000268655	T	0.07444	3.19	4.65	0.419	0.16438	.	0.588991	0.15460	N	0.261173	T	0.03477	0.0100	N	0.19112	0.55	0.09310	N	0.999997	B	0.10296	0.003	B	0.08055	0.003	T	0.43988	-0.9357	10	0.07482	T	0.82	.	1.7846	0.03039	0.1559:0.366:0.3037:0.1744	.	249	Q15697	ZN174_HUMAN	S	249	ENSP00000268655:P249S	ENSP00000268655:P249S	P	+	1	0	ZNF174	3398441	0.000000	0.05858	0.001000	0.08648	0.389000	0.30415	-0.732000	0.04904	0.124000	0.18369	0.557000	0.71058	CCA	-	ZNF174	-	NULL		0.507	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	HGNC	protein_coding	OTTHUMT00000251510.1	0	0		77	77		0.00		C	NM_003450		3458440	+1	42		66		tier1	no_errors	ENST00000268655	ensembl	human	known	74_37	missense	38.89		SNP	0.000	T	42	66
KLHL5	51088	genome.wustl.edu	37	4	39116813	39116813	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:39116813G>A	ENST00000504108.1	+	10	2357	c.2074G>A	c.(2074-2076)Gca>Aca	p.A692T	KLHL5_ENST00000261426.5_Missense_Mutation_p.A631T|KLHL5_ENST00000261425.3_Missense_Mutation_p.A646T|KLHL5_ENST00000381930.3_Missense_Mutation_p.A692T|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000508137.2_Missense_Mutation_p.A505T|KLHL5_ENST00000359687.2_Missense_Mutation_p.A692T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	692						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GACTGCAGTAGCATCCATGAG	0.388													ENSG00000109790																																					0													98.0	90.0	92.0					4																	39116813		2203	4300	6503	SO:0001583	missense	0			-	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2074G>A	4.37:g.39116813G>A	ENSP00000423897:p.Ala692Thr		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A692T	ENST00000504108.1	37	c.2074	CCDS33974.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.669826|5.669826	0.96754|0.96754	.|.	.|.	ENSG00000109790|ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147|ENST00000515612	T;T;T;T;T;T|.	0.79653|.	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Kelch-type beta propeller (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P;P|.	0.50156|.	0.575;0.893;0.932|.	B;P;P|.	0.53689|.	0.305;0.732;0.612|.	T|T	0.64110|0.64110	-0.6484|-0.6484	10|5	0.59425|.	D|.	0.04|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	631;692;692|.	F8WAE7;Q96PQ7;Q96PQ7-2|.	.;KLHL5_HUMAN;.|.	T|N	726;646;505;692;692;692;631;286|203	ENSP00000261425:A646T;ENSP00000423080:A505T;ENSP00000423897:A692T;ENSP00000352716:A692T;ENSP00000371355:A692T;ENSP00000261426:A631T|.	ENSP00000261425:A646T|.	A|S	+|+	1|2	0|0	KLHL5|KLHL5	38793208|38793208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.768000|7.768000	0.85345|0.85345	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|AGC	-	KLHL5	-	pfam_Kelch_1,smart_Kelch_1		0.388	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	0	0		55	55		0.00		G			39116813	+1	33		46		tier1	no_errors	ENST00000359687	ensembl	human	known	74_37	missense	41.77		SNP	1.000	A	33	46
SIGLEC12	89858	genome.wustl.edu	37	19	52002723	52002723	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:52002723G>A	ENST00000291707.3	-	3	1111	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	SIGLEC12_ENST00000598614.1_Silent_p.T234T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	352	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCTGGTCATGGTCACGCCGG	0.607													ENSG00000254521																																					0													57.0	51.0	53.0					19																	52002723		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1056C>T	19.37:g.52002723G>A			Q8IYH7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T352	ENST00000291707.3	37	c.1056	CCDS12833.1	19																																																																																			-	SIGLEC12	-	smart_Ig_sub,pfscan_Ig-like_dom		0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	0	0		40	40		0.00		G	NM_053003		52002723	-1	19		49		tier1	no_errors	ENST00000291707	ensembl	human	known	74_37	silent	27.94		SNP	0.000	A	19	49
MMP26	56547	genome.wustl.edu	37	11	5011940	5011940	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5011940G>A	ENST00000380390.1	+	4	649	c.433G>A	c.(433-435)Gga>Aga	p.G145R	MMP26_ENST00000300762.1_Missense_Mutation_p.G145R			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	145					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	AGTGCAGAATGGAGATGCAGA	0.433													ENSG00000167346																																					0													111.0	107.0	108.0					11																	5011940		2201	4298	6499	SO:0001583	missense	0			-	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.433G>A	11.37:g.5011940G>A	ENSP00000369753:p.Gly145Arg		Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.G145R	ENST00000380390.1	37	c.433	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821187	0.16678	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.52754	0.65;0.65	4.0	-0.68	0.11346	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.006310	0.08018	N	0.991463	T	0.48995	0.1531	M	0.64170	1.965	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.53802	-0.8387	10	0.72032	D	0.01	-1.0E-4	16.7405	0.85458	0.0:0.244:0.756:0.0	.	145	Q9NRE1	MMP26_HUMAN	R	145	ENSP00000369753:G145R;ENSP00000300762:G145R	ENSP00000300762:G145R	G	+	1	0	MMP26	4968516	0.001000	0.12720	0.024000	0.17045	0.573000	0.36030	0.383000	0.20651	-0.113000	0.11958	0.650000	0.86243	GGA	-	MMP26	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.433	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	0	0		58	58		0.00		G	NM_021801		5011940	+1	15		55		tier1	no_errors	ENST00000300762	ensembl	human	known	74_37	missense	21.43		SNP	0.000	A	15	55
KHNYN	23351	genome.wustl.edu	37	14	24900847	24900847	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:24900847C>T	ENST00000251343.5	+	3	519	c.380C>T	c.(379-381)gCc>gTc	p.A127V	CBLN3_ENST00000555436.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000556842.1_Missense_Mutation_p.A127V|KHNYN_ENST00000553935.1_Missense_Mutation_p.A127V|KHNYN_ENST00000554268.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	127							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGACTGAAGCCTTTGTCATG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000100441																																					0													45.0	48.0	47.0					14																	24900847		2203	4300	6503	SO:0001583	missense	0			-	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.380C>T	14.37:g.24900847C>T	ENSP00000251343:p.Ala127Val	774	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.A127V	ENST00000251343.5	37	c.380	CCDS32058.1	14	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348786	0.82132	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935;ENST00000556510	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.04	5.04	0.67666	.	0.135544	0.49305	D	0.000143	T	0.55386	0.1917	M	0.68952	2.095	0.80722	D	1	D;D	0.58620	0.983;0.965	P;P	0.51016	0.656;0.656	T	0.60525	-0.7246	10	0.72032	D	0.01	.	12.0458	0.53479	0.0:0.8257:0.1743:0.0	.	168;127	D3DS77;O15037	.;KHNYN_HUMAN	V	127	ENSP00000251343:A127V;ENSP00000451106:A127V;ENSP00000450799:A127V;ENSP00000451004:A127V	ENSP00000251343:A127V	A	+	2	0	KHNYN	23970687	1.000000	0.71417	0.988000	0.46212	0.817000	0.46193	5.260000	0.65490	2.506000	0.84524	0.563000	0.77884	GCC	-	KHNYN	-	NULL		0.622	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	HGNC	protein_coding	OTTHUMT00000412928.1	0	0		22	22		0.00		C			24900847	+1	7		9		tier1	no_errors	ENST00000251343	ensembl	human	known	74_37	missense	43.75		SNP	1.000	T	7	9
MUM1	84939	genome.wustl.edu	37	19	1369299	1369299	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1369299C>T	ENST00000415183.3	+	9	1487	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	MUM1_ENST00000591806.1_Silent_p.G487G|MUM1_ENST00000344663.3_Silent_p.G487G|MUM1_ENST00000311401.5_Silent_p.G418G			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	486					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACATCGGCTGGTGTGTCT	0.622													ENSG00000160953																																					0													83.0	67.0	72.0					19																	1369299		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1461C>T	19.37:g.1369299C>T			A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Silent	SNP	pfam_PWWP_dom	p.G487	ENST00000415183.3	37	c.1461		19																																																																																			-	MUM1	-	NULL		0.622	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	0	0		106	106		0.00		C	NM_032853		1369299	+1	44		129		tier1	no_errors	ENST00000344663	ensembl	human	known	74_37	silent	25.29		SNP	0.316	T	44	129
SHANK3	85358	genome.wustl.edu	37	22	51159802	51159802	+	Missense_Mutation	SNP	C	C	T	rs200188413	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:51159802C>T	ENST00000414786.2	+	21	3726	c.3499C>T	c.(3499-3501)Ccc>Tcc	p.P1167S	SHANK3_ENST00000445220.2_Missense_Mutation_p.P1183S|SHANK3_ENST00000262795.3_Missense_Mutation_p.P1197S			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1181					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGAGAAGGTCCCCCGGGAGGA	0.672													ENSG00000251322	C|||	2	0.000399361	0.0	0.0	5008	,	,		13516	0.0		0.0	False		,,,				2504	0.002																0													35.0	44.0	41.0					22																	51159802		2046	4166	6212	SO:0001583	missense	0			-	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3499C>T	22.37:g.51159802C>T	ENSP00000464552:p.Pro1167Ser		D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1197S	ENST00000414786.2	37	c.3589		22	.	.	.	.	.	.	.	.	.	.	C	5.833	0.337853	0.11013	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.15834	2.39;2.39	4.58	0.972	0.19704	.	0.926833	0.09285	N	0.823232	T	0.12603	0.0306	N	0.22421	0.69	0.09310	N	0.999998	B;P;B	0.51057	0.0;0.941;0.0	B;P;B	0.48770	0.001;0.589;0.0	T	0.17992	-1.0351	10	0.20046	T	0.44	.	3.1149	0.06371	0.1619:0.4424:0.2976:0.0982	.	1181;1182;1197	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	S	1197;1183	ENSP00000442518:P1197S;ENSP00000446078:P1183S	ENSP00000442518:P1197S	P	+	1	0	SHANK3	49506668	0.000000	0.05858	0.440000	0.26846	0.801000	0.45260	0.550000	0.23345	0.350000	0.24002	0.462000	0.41574	CCC	-	SHANK3	-	NULL		0.672	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	0	0		85	85		0.00		C	NM_001080420		51159802	+1	51		75		tier1	no_errors	ENST00000262795	ensembl	human	known	74_37	missense	40.48		SNP	0.381	T	51	75
G3BP1	10146	genome.wustl.edu	37	5	151183530	151183530	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:151183530C>T	ENST00000394123.3	+	12	1424	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	G3BP1_ENST00000543466.1_Missense_Mutation_p.R245C|G3BP1_ENST00000356245.3_Missense_Mutation_p.R427C			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	427					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ACGAGATAATCGCCTTCGGGG	0.582													ENSG00000145907																																					0													84.0	88.0	87.0					5																	151183530		2203	4300	6503	SO:0001583	missense	0			-	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1279C>T	5.37:g.151183530C>T	ENSP00000377681:p.Arg427Cys		Q5HYE9	Missense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.R427C	ENST00000394123.3	37	c.1279	CCDS4319.1	5	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046934	0.36085	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.76968	-0.96;-1.06;-0.96	5.36	3.28	0.37604	.	0.043814	0.85682	D	0.000000	T	0.73621	0.3610	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	B	0.42386	0.386	T	0.77319	-0.2632	10	0.54805	T	0.06	-1.4343	13.4392	0.61104	0.4251:0.5749:0.0:0.0	.	427	Q13283	G3BP1_HUMAN	C	427;245;427;269	ENSP00000377681:R427C;ENSP00000445035:R245C;ENSP00000348578:R427C	ENSP00000274596:R269C	R	+	1	0	G3BP1	151163723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.424000	0.34848	1.374000	0.46228	0.655000	0.94253	CGC	-	G3BP1	-	NULL		0.582	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	HGNC	protein_coding	OTTHUMT00000252431.1	0	0		48	48		0.00		C	NM_005754		151183530	+1	29		32		tier1	no_errors	ENST00000356245	ensembl	human	known	74_37	missense	47.54		SNP	1.000	T	29	32
UBE2O	63893	genome.wustl.edu	37	17	74395724	74395724	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:74395724C>T	ENST00000319380.7	-	9	1498	c.1434G>A	c.(1432-1434)caG>caA	p.Q478Q	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	478					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CATCTGCGTCCTGCTCTGCCG	0.627													ENSG00000175931																																					0													112.0	92.0	99.0					17																	74395724		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1434G>A	17.37:g.74395724C>T			A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.Q478	ENST00000319380.7	37	c.1434	CCDS32742.1	17																																																																																			-	UBE2O	-	NULL		0.627	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	0	0		33	33		0.00		C	NM_022066		74395724	-1	13		31		tier1	no_errors	ENST00000319380	ensembl	human	known	74_37	silent	29.55		SNP	1.000	T	13	31
NAPA	8775	genome.wustl.edu	37	19	47999983	47999983	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:47999983G>A	ENST00000263354.3	-	4	595				NAPA_ENST00000595227.1_Intron|NAPA_ENST00000593785.1_5'UTR|NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha						apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GGTCTGGATGGGACTCCAAAC	0.617													ENSG00000105402																									Ovarian(185;1135 2042 27703 31345 42493)												0																																										SO:0001627	intron_variant	0			-	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.296-1130C>T	19.37:g.47999983G>A			A8K879|Q96IK3|Q9BVJ3	R	SNP	-	NULL	ENST00000263354.3	37	NULL	CCDS12702.1	19																																																																																			-	PA	-	-		0.617	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA	HGNC	protein_coding	OTTHUMT00000466048.2	0	0		24	24		0.00		G	NM_003827		47999983	-1	7		26		tier1	no_errors	ENST00000593785	ensembl	human	known	74_37	rna	21.21		SNP	0.017	A	7	26
OR2A12	346525	genome.wustl.edu	37	7	143793092	143793092	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:143793092G>A	ENST00000408949.2	+	1	952	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AGAGGTGAAAGGGGCTCTAAA	0.463													ENSG00000221858																																					0													180.0	172.0	175.0					7																	143793092		1871	4105	5976	SO:0001583	missense	0			-		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.892G>A	7.37:g.143793092G>A	ENSP00000386174:p.Gly298Arg		Q6IF43	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G298R	ENST00000408949.2	37	c.892	CCDS43670.1	7	.	.	.	.	.	.	.	.	.	.	g	9.253	1.041351	0.19669	.	.	ENSG00000221858	ENST00000408949	T	0.34472	1.36	4.1	1.22	0.21188	.	.	.	.	.	T	0.23688	0.0573	N	0.17631	0.505	0.09310	N	1	B	0.25904	0.137	B	0.35971	0.215	T	0.33879	-0.9851	9	0.39692	T	0.17	-0.0861	3.4712	0.07567	0.2183:0.0:0.5829:0.1988	.	298	Q8NGT7	O2A12_HUMAN	R	298	ENSP00000386174:G298R	ENSP00000386174:G298R	G	+	1	0	OR2A12	143424025	0.000000	0.05858	0.016000	0.15963	0.223000	0.24884	-0.098000	0.11024	0.060000	0.16281	-0.282000	0.10007	GGG	-	OR2A12	-	NULL		0.463	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	HGNC	protein_coding	OTTHUMT00000349969.1	0	0		44	44		0.00		G			143793092	+1	23		31		tier1	no_errors	ENST00000408949	ensembl	human	known	74_37	missense	42.59		SNP	0.012	A	23	31
MIS18A	54069	genome.wustl.edu	37	21	33651119	33651119	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:33651119C>T	ENST00000290130.3	-	1	261	c.207G>A	c.(205-207)ctG>ctA	p.L69L	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	69					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CCTCCTCCTCCAGCTGCGCCC	0.706													ENSG00000159055																																					0													14.0	13.0	13.0					21																	33651119		2201	4294	6495	SO:0001819	synonymous_variant	0			-	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.207G>A	21.37:g.33651119C>T			B2R562|Q542Z0	Silent	SNP	NULL	p.L69	ENST00000290130.3	37	c.207	CCDS13611.1	21																																																																																			-	MIS18A	-	NULL		0.706	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18A	HGNC	protein_coding	OTTHUMT00000193090.1	0	0		33	33		0.00		C	NM_018944		33651119	-1	26		28		tier1	no_errors	ENST00000290130	ensembl	human	known	74_37	silent	48.15		SNP	0.007	T	26	28
BPIFA4P	317716	genome.wustl.edu	37	20	31790413	31790413	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31790413C>T	ENST00000375465.3	+	0	500					NR_026760.1		Q86YQ2	LATH_HUMAN	BPI fold containing family A, member 4, pseudogene							extracellular region (GO:0005576)	lipid binding (GO:0008289)										TATGAGCTTGCCTTTGGGAAC	0.468													ENSG00000183566																																					0													231.0	195.0	206.0					20																	31790413		692	1591	2283			0			-	AY180924		20q11.21	2013-01-24			ENSG00000183566	ENSG00000183566		"""BPI fold containing"""	20469	pseudogene	pseudogene	"""breast cancer and salivary gland expression gene"", ""PLUNC family pseudogene"""	607627				12538848, 21787333	Standard	NR_026760		Approved	BASE	uc002wyq.2	Q86YQ2	OTTHUMG00000032251		20.37:g.31790413C>T				R	SNP	-	NULL	ENST00000375465.3	37	NULL		20																																																																																			-	BPIFA4P	-	-		0.468	BPIFA4P-003	KNOWN	basic	processed_transcript	BPIFA4P	HGNC	pseudogene	OTTHUMT00000469705.1	0	0		51	51		0.00		C	NR_026760		31790413	+1	29		50		tier1	no_errors	ENST00000375465	ensembl	human	known	74_37	rna	35.80		SNP	0.000	T	29	50
CEP78	84131	genome.wustl.edu	37	9	80861674	80861674	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:80861674G>A	ENST00000424347.2	+	6	1157	c.868G>A	c.(868-870)Gat>Aat	p.D290N	CEP78_ENST00000415759.2_Missense_Mutation_p.D290N|CEP78_ENST00000277082.5_Missense_Mutation_p.D290N|CEP78_ENST00000376597.4_Missense_Mutation_p.D290N|CEP78_ENST00000376598.2_Missense_Mutation_p.D290N			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	290					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GGTCGTTCTGGATATAAGAAA	0.383													ENSG00000148019																																					0													82.0	80.0	81.0					9																	80861674		1823	4080	5903	SO:0001583	missense	0			-	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.868G>A	9.37:g.80861674G>A	ENSP00000411284:p.Asp290Asn		A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D290N	ENST00000424347.2	37	c.868		9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975017	0.92919	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.75	5.75	0.90469	.	0.143108	0.42682	D	0.000666	T	0.73202	0.3557	M	0.71036	2.16	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;0.941;0.974;0.985	T	0.74760	-0.3556	10	0.72032	D	0.01	-24.8007	18.5229	0.90960	0.0:0.0:1.0:0.0	.	203;290;290;290	B7Z8H9;E9PHX5;Q5JTW2-2;Q5JTW2	.;.;.;CEP78_HUMAN	N	290	ENSP00000411284:D290N;ENSP00000399286:D290N;ENSP00000365782:D290N;ENSP00000277082:D290N;ENSP00000365783:D290N	ENSP00000277082:D290N	D	+	1	0	CEP78	80051494	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.988000	0.93501	2.696000	0.92011	0.655000	0.94253	GAT	-	CEP78	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.383	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	0	0		56	56		0.00		G	XM_095991		80861674	+1	7		58		tier1	no_errors	ENST00000376597	ensembl	human	known	74_37	missense	10.77		SNP	1.000	A	7	58
CADM4	199731	genome.wustl.edu	37	19	44131056	44131056	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44131056G>A	ENST00000222374.2	-	4	427	c.379C>T	c.(379-381)Cct>Tct	p.P127S	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	127	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TCCACCACAGGATTCTCTGGG	0.657													ENSG00000105767																																					0													26.0	29.0	28.0					19																	44131056		2203	4295	6498	SO:0001583	missense	0			-	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.379C>T	19.37:g.44131056G>A	ENSP00000222374:p.Pro127Ser		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.P127S	ENST00000222374.2	37	c.379	CCDS12627.1	19	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955293	0.92726	.	.	ENSG00000105767	ENST00000222374	D	0.89270	-2.49	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	M	0.70275	2.135	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.92576	0.6070	10	0.36615	T	0.2	.	17.1501	0.86775	0.0:0.0:1.0:0.0	.	127	Q8NFZ8	CADM4_HUMAN	S	127	ENSP00000222374:P127S	ENSP00000222374:P127S	P	-	1	0	CADM4	48822896	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.922000	0.70036	2.647000	0.89833	0.591000	0.81541	CCT	-	CADM4	-	pfscan_Ig-like_dom		0.657	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	HGNC	protein_coding	OTTHUMT00000463352.1	0	0		81	81		0.00		G	NM_145296		44131056	-1	19		76		tier1	no_errors	ENST00000222374	ensembl	human	known	74_37	missense	20.00		SNP	1.000	A	19	76
KDM7A	80853	genome.wustl.edu	37	7	139801930	139801930	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:139801930C>T	ENST00000397560.2	-	12	1556	c.1459G>A	c.(1459-1461)Gga>Aga	p.G487R	JHDM1D_ENST00000006967.5_Missense_Mutation_p.G487R	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		487					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAGGAATTCCCTGAGATTTA	0.383													ENSG00000006459																																					0													151.0	138.0	142.0					7																	139801930		1849	4079	5928	SO:0001583	missense	0			-																												ENST00000397560.2:c.1459G>A	7.37:g.139801930C>T	ENSP00000380692:p.Gly487Arg		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.G487R	ENST00000397560.2	37	c.1459	CCDS43658.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270526	0.80469	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.54866	0.55;0.55	5.58	5.58	0.84498	.	0.362469	0.27522	N	0.018983	T	0.62865	0.2463	L	0.36672	1.1	0.80722	D	1	D	0.59767	0.986	P	0.60682	0.878	T	0.61778	-0.6993	10	0.48119	T	0.1	-23.1152	19.5567	0.95351	0.0:1.0:0.0:0.0	.	487	Q6ZMT4	KDM7_HUMAN	R	487	ENSP00000380692:G487R;ENSP00000006967:G487R	ENSP00000006967:G487R	G	-	1	0	JHDM1D	139448399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.314000	0.72848	2.615000	0.88500	0.655000	0.94253	GGA	-	JHDM1D	-	NULL		0.383	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JHDM1D	HGNC	protein_coding	OTTHUMT00000348460.1	0	0		84	84		0.00		C			139801930	-1	26		61		tier1	no_errors	ENST00000397560	ensembl	human	known	74_37	missense	29.89		SNP	1.000	T	26	61
SAMD4B	55095	genome.wustl.edu	37	19	39860580	39860580	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39860580G>A	ENST00000314471.6	+	6	1517	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	RN7SL566P_ENST00000467650.2_RNA|SAMD4B_ENST00000596368.1_Missense_Mutation_p.R161Q|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R161Q	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCCGCTCCCGGCCAGAGCCC	0.662													ENSG00000179134																																					0													23.0	21.0	22.0					19																	39860580		2203	4300	6503	SO:0001583	missense	0			-		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.482G>A	19.37:g.39860580G>A	ENSP00000317224:p.Arg161Gln		A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.R161Q	ENST00000314471.6	37	c.482	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525619	0.64860	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.18	4.15	0.48705	.	0.076321	0.51477	D	0.000098	T	0.14787	0.0357	N	0.04203	-0.255	0.34347	D	0.689381	P;P	0.40909	0.732;0.732	B;B	0.23716	0.048;0.048	T	0.25012	-1.0144	9	0.15066	T	0.55	.	11.3654	0.49668	0.0875:0.0:0.9125:0.0	.	161;161	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	Q	161	.	ENSP00000317224:R161Q	R	+	2	0	SAMD4B	44552420	0.999000	0.42202	0.998000	0.56505	0.987000	0.75469	4.077000	0.57598	1.425000	0.47237	0.655000	0.94253	CGG	-	SAMD4B	-	NULL		0.662	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	0	0		20	20		0.00		G	NM_018028		39860580	+1	14		18		tier1	no_errors	ENST00000314471	ensembl	human	known	74_37	missense	43.75		SNP	1.000	A	14	18
PLEKHG4	25894	genome.wustl.edu	37	16	67318358	67318358	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:67318358G>A	ENST00000360461.5	+	11	4225	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E564K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E483K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E564K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	564							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCTCTTCAGGGAGGTGGGTGA	0.612													ENSG00000196155																																					0													23.0	28.0	27.0					16																	67318358		2195	4297	6492	SO:0001583	missense	0			-	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1690G>A	16.37:g.67318358G>A	ENSP00000353646:p.Glu564Lys		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E564K	ENST00000360461.5	37	c.1690	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718664	0.30503	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.07908	3.16;3.16;3.16;3.15	4.15	3.2	0.36748	.	0.271361	0.19786	N	0.106114	T	0.02727	0.0082	N	0.01352	-0.895	0.22754	N	0.998778	B;B	0.22683	0.073;0.043	B;B	0.25291	0.059;0.017	T	0.46638	-0.9177	10	0.12103	T	0.63	.	9.6481	0.39881	0.0:0.7732:0.2268:0.0	.	483;564	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	K	564;564;564;483	ENSP00000353646:E564K;ENSP00000401118:E564K;ENSP00000368649:E564K;ENSP00000398030:E483K	ENSP00000353646:E564K	E	+	1	0	PLEKHG4	65875859	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	1.609000	0.36858	0.959000	0.37980	-0.515000	0.04445	GAG	-	PLEKHG4	-	NULL		0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	0	0		29	29		0.00		G	NM_015432		67318358	+1	14		10		tier1	no_errors	ENST00000360461	ensembl	human	known	74_37	missense	58.33		SNP	1.000	A	14	10
MED1	5469	genome.wustl.edu	37	17	37563928	37563928	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:37563928G>A	ENST00000300651.6	-	17	4769	c.4546C>T	c.(4546-4548)Cgg>Tgg	p.R1516W	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		tctttgtcccggtctcggtcc	0.428										HNSCC(31;0.082)			ENSG00000125686																									Pancreas(21;279 768 2492 4877 24026)												0													181.0	160.0	167.0					17																	37563928		2203	4300	6503	SO:0001583	missense	0			-	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4546C>T	17.37:g.37563928G>A	ENSP00000300651:p.Arg1516Trp		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.R1516W	ENST00000300651.6	37	c.4546	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184445	0.38609	.	.	ENSG00000125686	ENST00000300651	T	0.37235	1.21	5.26	3.21	0.36854	.	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.41237	D	0.986612	B	0.10296	0.003	B	0.01281	0.0	T	0.05037	-1.0910	9	0.87932	D	0	-6.4119	8.1619	0.31204	0.0817:0.0:0.7578:0.1605	.	1516	Q15648	MED1_HUMAN	W	1516	ENSP00000300651:R1516W	ENSP00000300651:R1516W	R	-	1	2	MED1	34817454	0.999000	0.42202	0.998000	0.56505	0.847000	0.48162	1.681000	0.37618	0.552000	0.29026	-0.150000	0.13652	CGG	-	MED1	-	NULL		0.428	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	0	0		49	49		0.00		G	NM_004774		37563928	-1	16		31		tier1	no_errors	ENST00000300651	ensembl	human	known	74_37	missense	34.04		SNP	1.000	A	16	31
PCDHA8	56140	genome.wustl.edu	37	5	140221343	140221343	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140221343G>A	ENST00000531613.1	+	1	437	c.437G>A	c.(436-438)aGa>aAa	p.R146K	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R146K|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	146					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAATCCAGAATGCCAGAC	0.502													ENSG00000204962																																					0													89.0	96.0	94.0					5																	140221343		2203	4300	6503	SO:0001583	missense	0			-	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.437G>A	5.37:g.140221343G>A	ENSP00000434655:p.Arg146Lys		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R146K	ENST00000531613.1	37	c.437	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127282	0.56721	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.50548	0.74;0.74	3.72	2.82	0.32997	Cadherin (2);Cadherin-like (1);	0.178376	0.26414	U	0.024518	T	0.37489	0.1005	L	0.45228	1.405	0.09310	N	1	B;B	0.20164	0.013;0.042	B;B	0.29077	0.098;0.056	T	0.17684	-1.0361	10	0.25106	T	0.35	.	8.5284	0.33319	0.1201:0.0:0.8799:0.0	.	146;146	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	146	ENSP00000434655:R146K;ENSP00000367363:R146K	ENSP00000367363:R146K	R	+	2	0	PCDHA8	140201527	0.000000	0.05858	0.402000	0.26371	0.923000	0.55619	0.288000	0.18939	1.794000	0.52575	0.552000	0.68991	AGA	-	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like		0.502	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	0	0		76	76		0.00		G	NM_018911		140221343	+1	29		74		tier1	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	28.16		SNP	0.023	A	29	74
C2orf71	388939	genome.wustl.edu	37	2	29294163	29294163	+	Missense_Mutation	SNP	G	G	A	rs184281410	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:29294163G>A	ENST00000331664.5	-	1	2964	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	989					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGCCCACAGGGGGGCTTCTC	0.637													ENSG00000179270																																					0								G	SER/PRO	1,3811		0,1,1905	39.0	42.0	41.0		2965	-5.1	0.0	2		41	0,8218		0,0,4109	no	missense	C2orf71	NM_001029883.1	74	0,1,6014	AA,AG,GG		0.0,0.0262,0.0083	benign	989/1289	29294163	1,12029	1906	4109	6015	SO:0001583	missense	0			-		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2965C>T	2.37:g.29294163G>A	ENSP00000332809:p.Pro989Ser			Missense_Mutation	SNP	NULL	p.P989S	ENST00000331664.5	37	c.2965	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.527381	0.00959	2.62E-4	0.0	ENSG00000179270	ENST00000331664	T	0.18174	2.23	4.99	-5.05	0.02955	.	1.558150	0.03413	N	0.205082	T	0.14227	0.0344	L	0.38175	1.15	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.36672	-0.9738	10	0.46703	T	0.11	0.4574	9.8081	0.40805	0.0592:0.4591:0.345:0.1367	.	989	A6NGG8	CB071_HUMAN	S	989	ENSP00000332809:P989S	ENSP00000332809:P989S	P	-	1	0	C2orf71	29147667	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.242000	0.02908	-0.925000	0.03775	-3.076000	0.00066	CCT	-	C2orf71	-	NULL		0.637	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	0	0		39	39		0.00		G	NM_001029883		29294163	-1	16		42		tier1	no_errors	ENST00000331664	ensembl	human	known	74_37	missense	27.59		SNP	0.000	A	16	42
CACNG5	27091	genome.wustl.edu	37	17	64881281	64881281	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:64881281C>T	ENST00000533854.1	+	6	989	c.752C>T	c.(751-753)tCc>tTc	p.S251F	CACNG5_ENST00000307139.3_Missense_Mutation_p.S251F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	251				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGCGAGGCCTCCCTGCAGATG	0.642													ENSG00000075429																																					0													62.0	53.0	56.0					17																	64881281		2203	4300	6503	SO:0001583	missense	0			-	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.752C>T	17.37:g.64881281C>T	ENSP00000436836:p.Ser251Phe		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.S251F	ENST00000533854.1	37	c.752	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275873	0.80580	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.53857	0.6;0.6	3.42	3.42	0.39159	.	.	.	.	.	T	0.39517	0.1081	L	0.29908	0.895	0.80722	D	1	P	0.48407	0.91	B	0.37387	0.248	T	0.52939	-0.8508	9	0.72032	D	0.01	.	15.1473	0.72667	0.0:1.0:0.0:0.0	.	251	Q9UF02	CCG5_HUMAN	F	251	ENSP00000436836:S251F;ENSP00000303092:S251F	ENSP00000303092:S251F	S	+	2	0	CACNG5	62311743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.038000	0.76537	2.236000	0.73375	0.603000	0.83216	TCC	-	CACNG5	-	NULL		0.642	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	0	0		29	29		0.00		C	NM_014404, NM_145811		64881281	+1	17		39		tier1	no_errors	ENST00000307139	ensembl	human	known	74_37	missense	30.36		SNP	1.000	T	17	39
KDM4B	23030	genome.wustl.edu	37	19	5077412	5077412	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5077412C>T	ENST00000159111.4	+	8	929	c.711C>T	c.(709-711)gcC>gcT	p.A237A	KDM4B_ENST00000381759.4_Silent_p.A237A|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.A237A	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	237	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTGCGACGCCTTCCTGCGGC	0.657													ENSG00000127663																																					0													133.0	136.0	135.0					19																	5077412		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.711C>T	19.37:g.5077412C>T			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A237	ENST00000159111.4	37	c.711	CCDS12138.1	19																																																																																			-	KDM4B	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.657	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	0	0		70	70		0.00		C	NM_015015		5077412	+1	16		48		tier1	no_errors	ENST00000159111	ensembl	human	known	74_37	silent	25.00		SNP	0.998	T	16	48
B3GNT2	10678	genome.wustl.edu	37	2	62449515	62449515	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:62449515C>T	ENST00000301998.4	+	2	412	c.160C>T	c.(160-162)Cct>Tct	p.P54S	B3GNT2_ENST00000405767.1_Missense_Mutation_p.P54S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	54					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATATCTACCCCTCCCGAGGC	0.483													ENSG00000170340																																					0													122.0	143.0	136.0					2																	62449515		2203	4300	6503	SO:0001583	missense	0			-	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.160C>T	2.37:g.62449515C>T	ENSP00000305595:p.Pro54Ser		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.P54S	ENST00000301998.4	37	c.160	CCDS1870.1	2	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082570	0.20309	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.25749	1.78;1.78	6.02	5.14	0.70334	.	0.567259	0.17280	N	0.180048	T	0.21186	0.0510	L	0.42245	1.32	0.39676	D	0.970834	B	0.18013	0.025	B	0.19148	0.024	T	0.05022	-1.0911	10	0.09590	T	0.72	.	12.4116	0.55469	0.1327:0.7397:0.1276:0.0	.	54	Q9NY97	B3GN2_HUMAN	S	54	ENSP00000305595:P54S;ENSP00000384692:P54S	ENSP00000305595:P54S	P	+	1	0	B3GNT2	62303019	0.475000	0.25894	0.613000	0.29037	0.468000	0.32798	2.559000	0.45888	1.535000	0.49220	0.655000	0.94253	CCT	-	B3GNT2	-	NULL		0.483	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT2	HGNC	protein_coding	OTTHUMT00000251606.2	0	0		45	45		0.00		C	NM_006577		62449515	+1	6		36		tier1	no_errors	ENST00000301998	ensembl	human	known	74_37	missense	14.29		SNP	0.993	T	6	36
PBRM1	55193	genome.wustl.edu	37	3	52595909	52595909	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52595909G>A	ENST00000296302.7	-	25	4163	c.4162C>T	c.(4162-4164)Ctg>Ttg	p.L1388L	PBRM1_ENST00000410007.1_Silent_p.L1363L|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Silent_p.L1403L|PBRM1_ENST00000409057.1_Silent_p.L1388L|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000356770.4_Silent_p.L1356L|PBRM1_ENST00000337303.4_Silent_p.L1388L|PBRM1_ENST00000394830.3_Silent_p.L1336L|PBRM1_ENST00000409767.1_Silent_p.L1403L			Q86U86	PB1_HUMAN	polybromo 1	1388					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCTGAACAGGATGTAGCCA	0.502			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								ENSG00000163939																												Rec	yes		3	3p21	55193	polybromo 1		E	0													180.0	178.0	179.0					3																	52595909		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4162C>T	3.37:g.52595909G>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.L1388	ENST00000296302.7	37	c.4162		3																																																																																			-	PBRM1	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.502	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	0	0		47	47		0.00		G	NM_018165		52595909	-1	14		39		tier1	no_errors	ENST00000296302	ensembl	human	known	74_37	silent	26.42		SNP	1.000	A	14	39
FYB	2533	genome.wustl.edu	37	5	39153563	39153563	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:39153563G>A	ENST00000351578.6	-	3	1469	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	FYB_ENST00000515010.1_Missense_Mutation_p.P427S|FYB_ENST00000512982.1_Missense_Mutation_p.P427S|FYB_ENST00000505428.1_Missense_Mutation_p.P427S|FYB_ENST00000540520.1_Missense_Mutation_p.P437S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	427	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AGGTCAAACGGAGGTTTAATG	0.478													ENSG00000082074																																					0													297.0	297.0	297.0					5																	39153563		2010	4167	6177	SO:0001583	missense	0			-	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1279C>T	5.37:g.39153563G>A	ENSP00000316460:p.Pro427Ser		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.P437S	ENST00000351578.6	37	c.1309	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460622	0.26248	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.22539	1.95;1.95;1.96;1.96;1.96	4.64	-2.06	0.07298	.	0.575109	0.16838	N	0.197444	T	0.12817	0.0311	L	0.50333	1.59	0.33123	D	0.542023	B;B	0.18461	0.028;0.002	B;B	0.12156	0.007;0.001	T	0.15378	-1.0439	10	0.26408	T	0.33	0.0438	1.1984	0.01880	0.2778:0.3193:0.2649:0.1379	.	437;427	B4DLN2;O15117	.;FYB_HUMAN	S	427;427;427;427;437;427	ENSP00000316460:P427S;ENSP00000426346:P427S;ENSP00000425845:P427S;ENSP00000427114:P427S;ENSP00000442840:P437S	ENSP00000316460:P427S	P	-	1	0	FYB	39189320	0.106000	0.21978	0.950000	0.38849	0.987000	0.75469	-0.719000	0.04974	-0.407000	0.07576	0.561000	0.74099	CCG	-	FYB	-	NULL		0.478	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	0	0		93	93		0.00		G	NM_001465		39153563	-1	39		79		tier1	no_errors	ENST00000540520	ensembl	human	known	74_37	missense	33.05		SNP	0.837	A	39	79
EXOC6B	23233	genome.wustl.edu	37	2	72692419	72692419	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:72692419T>C	ENST00000272427.6	-	18	1980	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	EXOC6B_ENST00000410104.1_Missense_Mutation_p.K617R	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	617					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTGGTCAATCTTCTGGTTTAA	0.403													ENSG00000144036																																					0													122.0	117.0	119.0					2																	72692419		1920	4130	6050	SO:0001583	missense	0			-	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1850A>G	2.37:g.72692419T>C	ENSP00000272427:p.Lys617Arg		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.K617R	ENST00000272427.6	37	c.1850	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842567	0.91197	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.58506	0.33;0.33	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.74283	0.3696	M	0.78916	2.43	0.80722	D	1	B;D	0.64830	0.173;0.994	B;D	0.63877	0.122;0.919	T	0.77986	-0.2381	10	0.66056	D	0.02	.	14.4082	0.67096	0.0:0.0:0.0:1.0	.	617;617	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	R	617	ENSP00000272427:K617R;ENSP00000386698:K617R	ENSP00000272427:K617R	K	-	2	0	EXOC6B	72545927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.912000	0.87465	2.139000	0.66308	0.482000	0.46254	AAG	-	EXOC6B	-	pfam_Sec15,pirsf_Sec15		0.403	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	0	0		101	101		0.00		T	XM_039570		72692419	-1	27		73		tier1	no_errors	ENST00000272427	ensembl	human	known	74_37	missense	27.00		SNP	1.000	C	27	73
GSAP	54103	genome.wustl.edu	37	7	76941247	76941247	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:76941247G>A	ENST00000257626.7	-	30	2462	c.2384C>T	c.(2383-2385)tCt>tTt	p.S795F	GSAP_ENST00000441833.2_Missense_Mutation_p.S116F|GSAP_ENST00000440473.1_5'Flank	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	795					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GTTAATCATAGAATTCCGAGG	0.358													ENSG00000186088																																					0													67.0	64.0	65.0					7																	76941247		1850	4086	5936	SO:0001583	missense	0			-		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2384C>T	7.37:g.76941247G>A	ENSP00000257626:p.Ser795Phe		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	NULL	p.S795F	ENST00000257626.7	37	c.2384	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287525	0.59976	.	.	ENSG00000186088	ENST00000257626;ENST00000441833	T	0.19394	2.15	5.2	5.2	0.72013	.	0.429826	0.25578	N	0.029702	T	0.26666	0.0652	L	0.51422	1.61	0.09310	N	0.999998	P	0.50443	0.935	P	0.46543	0.52	T	0.12091	-1.0561	10	0.52906	T	0.07	.	14.4309	0.67249	0.0:0.0:1.0:0.0	.	795	A4D1B5	GSAP_HUMAN	F	795;116	ENSP00000257626:S795F	ENSP00000257626:S795F	S	-	2	0	PION	76779183	0.840000	0.29493	0.113000	0.21522	0.966000	0.64601	3.817000	0.55668	2.868000	0.98415	0.555000	0.69702	TCT	-	GSAP	-	NULL		0.358	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2	0	0		47	47		0.00		G	NM_017439		76941247	-1	17		29		tier1	no_errors	ENST00000257626	ensembl	human	known	74_37	missense	36.96		SNP	0.083	A	17	29
COL24A1	255631	genome.wustl.edu	37	1	86283740	86283740	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:86283740G>A	ENST00000370571.2	-	46	4186	c.3820C>T	c.(3820-3822)Cct>Tct	p.P1274S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1274S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1274	Collagen-like 14.				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)			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)		TTCCCAGAAGGACCAGGAGCT	0.408													ENSG00000171502																																					0													124.0	125.0	125.0					1																	86283740		1837	4086	5923	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.3820C>T	1.37:g.86283740G>A	ENSP00000359603:p.Pro1274Ser		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.P1274S	ENST00000370571.2	37	c.3820	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599838	0.28534	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.96802	-4.06;-4.13	5.76	4.84	0.62591	.	0.197140	0.25408	N	0.030891	D	0.91304	0.7258	L	0.58354	1.805	0.34363	D	0.691186	B;B	0.25105	0.118;0.097	B;B	0.33254	0.16;0.03	D	0.86358	0.1715	10	0.10377	T	0.69	.	14.0504	0.64732	0.0:0.1513:0.8487:0.0	.	1274;1274	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	S	1274	ENSP00000359603:P1274S;ENSP00000392531:P1274S	ENSP00000359603:P1274S	P	-	1	0	COL24A1	86056328	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.221000	0.58574	1.408000	0.46895	0.655000	0.94253	CCT	-	COL24A1	-	pfam_Collagen		0.408	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	0	0		60	60		0.00		G	NM_152890		86283740	-1	18		98		tier1	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	15.52		SNP	0.999	A	18	98
CLCC1	23155	genome.wustl.edu	37	1	109486218	109486218	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:109486218C>T	ENST00000369971.2	-	6	710	c.581G>A	c.(580-582)tGc>tAc	p.C194Y	CLCC1_ENST00000302500.4_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.C144Y|CLCC1_ENST00000415331.1_Missense_Mutation_p.C144Y|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.C194Y|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000369976.1_Missense_Mutation_p.C194Y|CLCC1_ENST00000369969.2_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	194						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AACCACGATGCAGAGCAGACA	0.413													ENSG00000121940																																					0													104.0	107.0	106.0					1																	109486218		2203	4300	6503	SO:0001583	missense	0			-	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.581G>A	1.37:g.109486218C>T	ENSP00000358988:p.Cys194Tyr		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.C194Y	ENST00000369971.2	37	c.581	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860899	0.51482	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369976;ENST00000369970	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.26	5.26	0.73747	.	0.152660	0.64402	D	0.000010	T	0.66247	0.2770	M	0.77103	2.36	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72040	-0.4410	10	0.87932	D	0	-14.3724	6.3616	0.21431	0.1365:0.6577:0.1318:0.0741	.	144;194	Q96S66-2;Q96S66	.;CLCC1_HUMAN	Y	194;194;144;194;144	ENSP00000349456:C194Y;ENSP00000358988:C194Y;ENSP00000411591:C144Y;ENSP00000358993:C194Y;ENSP00000358987:C144Y	ENSP00000349456:C194Y	C	-	2	0	CLCC1	109287741	0.957000	0.32711	0.982000	0.44146	0.748000	0.42578	2.213000	0.42844	2.616000	0.88540	0.591000	0.81541	TGC	-	CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.413	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	0	0		39	39		0.00		C	NM_015127		109486218	-1	5		40		tier1	no_errors	ENST00000356970	ensembl	human	known	74_37	missense	11.11		SNP	0.780	T	5	40
LRTM1	57408	genome.wustl.edu	37	3	54958660	54958660	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:54958660T>A	ENST00000273286.5	-	2	752	c.590A>T	c.(589-591)aAa>aTa	p.K197I	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.K121I	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	197	LRRCT.					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)		ATAGACAAATTTCTCCAGCCA	0.458													ENSG00000144771																																					0													77.0	82.0	80.0					3																	54958660		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.590A>T	3.37:g.54958660T>A	ENSP00000273286:p.Lys197Ile		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K197I	ENST00000273286.5	37	c.590	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545184	0.45280	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90261	4.32;-2.64	5.82	0.903	0.19296	Cysteine-rich flanking region, C-terminal (1);	0.350840	0.35525	N	0.003148	T	0.81973	0.4936	L	0.49126	1.545	0.27278	N	0.958186	P	0.41265	0.744	B	0.30943	0.122	T	0.74256	-0.3724	10	0.52906	T	0.07	.	5.3775	0.16174	0.0:0.517:0.2263:0.2567	.	197	Q9HBL6	LRTM1_HUMAN	I	197;121	ENSP00000273286:K197I;ENSP00000419772:K121I	ENSP00000273286:K197I	K	-	2	0	LRTM1	54933700	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	1.271000	0.33098	0.155000	0.19261	0.533000	0.62120	AAA	-	LRTM1	-	smart_Cys-rich_flank_reg_C		0.458	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	0	0		47	47		0.00		T	NM_020678		54958660	-1	7		34		tier1	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	17.07		SNP	0.976	A	7	34
BZRAP1	9256	genome.wustl.edu	37	17	56386603	56386603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:56386603C>A	ENST00000343736.4	-	22	4193	c.4030G>T	c.(4030-4032)Gag>Tag	p.E1344*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.E1344*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E1284*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1344	Poly-Glu.					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)					ttctcctcctcctcgtcctcc	0.612													ENSG00000005379																																					0													70.0	72.0	71.0					17																	56386603		2203	4300	6503	SO:0001587	stop_gained	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.4030G>T	17.37:g.56386603C>A	ENSP00000345824:p.Glu1344*		O75111|Q8N5W3	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.E1344*	ENST00000343736.4	37	c.4030	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	c	39	7.654613	0.98415	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	4.9	3.92	0.45320	.	0.558356	0.19240	N	0.119186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.6379	0.56692	0.0:0.9183:0.0:0.0817	.	.	.	.	X	1344;1344;1284	.	ENSP00000268893:E1284X	E	-	1	0	BZRAP1	53741602	0.015000	0.18098	0.017000	0.16124	0.125000	0.20455	1.449000	0.35123	1.046000	0.40249	0.461000	0.40582	GAG	-	BZRAP1	-	NULL		0.612	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	0	0		58	58		0.00		C	NM_004758		56386603	-1	26		53		tier1	no_errors	ENST00000355701	ensembl	human	known	74_37	nonsense	32.91		SNP	0.065	A	26	53
PPP1R3A	5506	genome.wustl.edu	37	7	113519973	113519973	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:113519973C>T	ENST00000284601.3	-	4	1242	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	392					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.E392K(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATATTTTTCATTGCAGTAA	0.398													ENSG00000154415																																					1	Substitution - Missense(1)	skin(1)											161.0	159.0	160.0					7																	113519973		2203	4300	6503	SO:0001583	missense	0			-	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1174G>A	7.37:g.113519973C>T	ENSP00000284601:p.Glu392Lys		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.E392K	ENST00000284601.3	37	c.1174	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	9.237	1.037344	0.19669	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.31247	2.38;1.5	5.18	0.991	0.19813	.	0.713078	0.12923	N	0.428022	T	0.26666	0.0652	L	0.57536	1.79	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.17899	-1.0354	10	0.39692	T	0.17	-0.5335	7.7541	0.28915	0.0:0.5028:0.352:0.1452	.	392	Q16821	PPR3A_HUMAN	K	392;71	ENSP00000284601:E392K;ENSP00000401278:E71K	ENSP00000284601:E392K	E	-	1	0	PPP1R3A	113307209	0.000000	0.05858	0.224000	0.23877	0.293000	0.27360	0.264000	0.18497	0.268000	0.21939	0.655000	0.94253	GAA	-	PPP1R3A	-	NULL		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	0	0		54	54		0.00		C	NM_002711		113519973	-1	36		57		tier1	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	38.30		SNP	0.008	T	36	57
SPATA31D1	389763	genome.wustl.edu	37	9	84606073	84606073	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:84606073G>A	ENST00000344803.2	+	4	735	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	230	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTCCCTTGGATTCCAAGTT	0.537													ENSG00000214929																																					0													124.0	116.0	118.0					9																	84606073		1820	4049	5869	SO:0001583	missense	0			-		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.688G>A	9.37:g.84606073G>A	ENSP00000341988:p.Asp230Asn			Missense_Mutation	SNP	NULL	p.D230N	ENST00000344803.2	37	c.688	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	6.868	0.529609	0.13127	.	.	ENSG00000214929	ENST00000344803	T	0.04706	3.57	2.79	-0.266	0.12942	.	2.269140	0.01913	N	0.039992	T	0.07548	0.0190	L	0.32530	0.975	0.09310	N	1	D	0.57571	0.98	P	0.51806	0.68	T	0.28332	-1.0047	10	0.26408	T	0.33	-0.6165	5.0105	0.14310	0.1306:0.4236:0.4458:0.0	.	230	Q6ZQQ2	F75D1_HUMAN	N	230	ENSP00000341988:D230N	ENSP00000341988:D230N	D	+	1	0	FAM75D1	83795893	0.011000	0.17503	0.001000	0.08648	0.017000	0.09413	0.388000	0.20735	-0.041000	0.13558	-0.155000	0.13514	GAT	-	SPATA31D1	-	NULL		0.537	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	0	0		103	103		0.00		G	NM_001001670		84606073	+1	41		71		tier1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	36.61		SNP	0.002	A	41	71
CLCN6	1185	genome.wustl.edu	37	1	11879575	11879575	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:11879575C>A	ENST00000346436.6	+	5	362	c.310C>A	c.(310-312)Ctc>Atc	p.L104I	CLCN6_ENST00000376496.3_Missense_Mutation_p.L104I|CLCN6_ENST00000376487.3_Missense_Mutation_p.L82I|CLCN6_ENST00000376497.3_Missense_Mutation_p.L104I|CLCN6_ENST00000312413.6_Missense_Mutation_p.L104I|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	104					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTGTGCGACTCTTCACCCA	0.453													ENSG00000011021																																					0													295.0	248.0	264.0					1																	11879575		2203	4300	6503	SO:0001583	missense	0			-	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.310C>A	1.37:g.11879575C>A	ENSP00000234488:p.Leu104Ile		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.L104I	ENST00000346436.6	37	c.310	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131030	0.77549	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376497;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22	5.34	5.34	0.76211	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	L	0.56769	1.78	0.80722	D	1	P;P;P;P;P	0.49253	0.822;0.617;0.921;0.921;0.728	B;B;P;P;B	0.49140	0.359;0.242;0.547;0.601;0.196	D	0.91546	0.5253	10	0.22706	T	0.39	-26.3432	18.3846	0.90463	0.0:1.0:0.0:0.0	.	82;104;104;104;104	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	104;104;104;82;104;104;104;104	ENSP00000308367:L104I;ENSP00000234488:L104I;ENSP00000365680:L104I;ENSP00000365670:L82I;ENSP00000365679:L104I	ENSP00000308367:L104I	L	+	1	0	CLCN6	11802162	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.315000	0.78998	2.651000	0.90000	0.655000	0.94253	CTC	-	CLCN6	-	superfamily_Cl-channel_core,prints_Cl_channel-6		0.453	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	0	0		66	66		0.00		C	NM_001286		11879575	+1	30		77		tier1	no_errors	ENST00000346436	ensembl	human	known	74_37	missense	28.04		SNP	1.000	A	30	77
ZMIZ2	83637	genome.wustl.edu	37	7	44802946	44802946	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:44802946G>A	ENST00000309315.4	+	13	1917	c.1794G>A	c.(1792-1794)ctG>ctA	p.L598L	ZMIZ2_ENST00000433667.1_Silent_p.L566L|ZMIZ2_ENST00000265346.7_Silent_p.L572L|ZMIZ2_ENST00000413916.1_Silent_p.L540L|ZMIZ2_ENST00000441627.1_Silent_p.L598L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	598					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGGTGTCCCTGAAGTGCCCCA	0.592													ENSG00000122515																									NSCLC(20;604 852 1948 16908 50522)												0													102.0	114.0	110.0					7																	44802946		2190	4298	6488	SO:0001819	synonymous_variant	0			-	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1794G>A	7.37:g.44802946G>A			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.L598	ENST00000309315.4	37	c.1794	CCDS43576.1	7																																																																																			-	ZMIZ2	-	pfam_Znf_MIZ,pfscan_Znf_MIZ		0.592	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	HGNC	protein_coding	OTTHUMT00000341790.1	0	0		37	37		0.00		G	NM_031449		44802946	+1	18		41		tier1	no_errors	ENST00000309315	ensembl	human	known	74_37	silent	30.51		SNP	0.999	A	18	41
STXBP5L	9515	genome.wustl.edu	37	3	120840491	120840491	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:120840491C>T	ENST00000273666.6	+	7	880	c.609C>T	c.(607-609)tcC>tcT	p.S203S	STXBP5L_ENST00000471454.1_Silent_p.S203S|STXBP5L_ENST00000497029.1_Silent_p.S203S|STXBP5L_ENST00000492541.1_Silent_p.S203S|STXBP5L_ENST00000472879.1_Silent_p.S203S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	203					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTAACAGATCCACTAAGACTC	0.303													ENSG00000145087																																					0													133.0	122.0	126.0					3																	120840491		1833	4073	5906	SO:0001819	synonymous_variant	0			-	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.609C>T	3.37:g.120840491C>T			Q4G1B4|Q6PIC3	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.S203	ENST00000273666.6	37	c.609	CCDS43137.1	3																																																																																			-	STXBP5L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.303	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	0	0		53	53		0.00		C			120840491	+1	23		48		tier1	no_errors	ENST00000273666	ensembl	human	known	74_37	silent	32.39		SNP	1.000	T	23	48
SNHG14	104472715	genome.wustl.edu	37	15	25423754	25423754	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:25423754C>T	ENST00000441592.2	+	0	325				SNORD115-5_ENST00000363633.1_RNA|SNORD115-4_ENST00000363810.1_RNA|SNORD115-6_ENST00000363942.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CAGTGGTTGTCATCCAGGTGC	0.617													ENSG00000224078																																					0																																												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.25423754C>T				R	SNP	-	NULL	ENST00000441592.2	37	NULL		15																																																																																			-	SNHG14	-	-		0.617	SNHG14-009	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126736.3	0	0		31	31		0.00		C			25423754	+1	11		9		tier1	no_errors	ENST00000441592	ensembl	human	known	74_37	rna	55.00		SNP	0.000	T	11	9
TXLNB	167838	genome.wustl.edu	37	6	139563994	139563994	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:139563994G>A	ENST00000358430.3	-	10	1956	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	575						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ACTGGCCTTGGAGGGAGGTTC	0.602													ENSG00000164440																																					0													51.0	55.0	54.0					6																	139563994		2203	4300	6503	SO:0001583	missense	0			-		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1724C>T	6.37:g.139563994G>A	ENSP00000351206:p.Ser575Phe		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin_fam	p.S575F	ENST00000358430.3	37	c.1724	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728666	0.30593	.	.	ENSG00000164440	ENST00000358430	T	0.15256	2.44	5.37	2.42	0.29668	.	1.557060	0.03004	N	0.148588	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B	0.32653	0.379	B	0.22152	0.038	T	0.24657	-1.0154	9	.	.	.	-0.8759	6.6596	0.23007	0.307:0.0:0.693:0.0	.	575	Q8N3L3	TXLNB_HUMAN	F	575	ENSP00000351206:S575F	.	S	-	2	0	TXLNB	139605687	0.002000	0.14202	0.004000	0.12327	0.027000	0.11550	1.152000	0.31663	1.160000	0.42584	0.655000	0.94253	TCC	-	TXLNB	-	NULL		0.602	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	0	0		32	32		0.00		G	NM_153235		139563994	-1	12		23		tier1	no_errors	ENST00000358430	ensembl	human	known	74_37	missense	34.29		SNP	0.001	A	12	23
TST	7263	genome.wustl.edu	37	22	37414344	37414344	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:37414344C>T	ENST00000403892.3	-	1	1164	c.430G>A	c.(430-432)Gag>Aag	p.E144K	MPST_ENST00000397129.1_5'Flank|MPST_ENST00000429360.2_5'Flank|MPST_ENST00000404393.1_5'Flank|MPST_ENST00000401419.3_5'Flank|MPST_ENST00000341116.3_5'Flank|MPST_ENST00000404802.3_5'Flank|TST_ENST00000249042.3_Missense_Mutation_p.E144K	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	144	Hinge.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGTGAGGGCTCGGATGTCACC	0.602													ENSG00000128311																																					0													77.0	67.0	71.0					22																	37414344		2203	4300	6503	SO:0001583	missense	0			-	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.430G>A	22.37:g.37414344C>T	ENSP00000385828:p.Glu144Lys		B3KRM1|Q6IB06	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.E144K	ENST00000403892.3	37	c.430	CCDS13938.1	22	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443529	0.43429	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.45276	0.9;0.9	5.09	5.09	0.68999	Rhodanese-like (2);	0.158402	0.53938	D	0.000041	T	0.43100	0.1232	M	0.61703	1.905	0.58432	D	0.999995	B	0.28324	0.207	B	0.20384	0.029	T	0.36939	-0.9727	10	0.41790	T	0.15	-20.005	18.5155	0.90934	0.0:1.0:0.0:0.0	.	144	Q16762	THTR_HUMAN	K	144	ENSP00000385828:E144K;ENSP00000249042:E144K	ENSP00000249042:E144K	E	-	1	0	TST	35744290	0.973000	0.33851	0.840000	0.33206	0.971000	0.66376	2.712000	0.47186	2.355000	0.79922	0.561000	0.74099	GAG	-	TST	-	superfamily_Rhodanese-like_dom		0.602	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TST	HGNC	protein_coding	OTTHUMT00000318790.1	0	0		55	55		0.00		C			37414344	-1	28		55		tier1	no_errors	ENST00000249042	ensembl	human	known	74_37	missense	33.73		SNP	0.988	T	28	55
RYR2	6262	genome.wustl.edu	37	1	237758910	237758910	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237758910C>T	ENST00000366574.2	+	34	4866	c.4549C>T	c.(4549-4551)Ctg>Ttg	p.L1517L	RYR2_ENST00000542537.1_Silent_p.L1501L|RYR2_ENST00000360064.6_Silent_p.L1515L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1517	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			TGCCAGCGGGCTGCTCACATT	0.527													ENSG00000198626																																					0													71.0	80.0	77.0					1																	237758910		2104	4237	6341	SO:0001819	synonymous_variant	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.4549C>T	1.37:g.237758910C>T			Q15411|Q546N8|Q5T3P2	Silent	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.L1515	ENST00000366574.2	37	c.4543	CCDS55691.1	1																																																																																			-	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0		44	44		0.00		C	NM_001035		237758910	+1	11		78		tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	12.36		SNP	0.998	T	11	78
DNMBP	23268	genome.wustl.edu	37	10	101716781	101716781	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:101716781G>A	ENST00000324109.4	-	4	541	c.450C>T	c.(448-450)gcC>gcT	p.A150A	DNMBP_ENST00000342239.3_Silent_p.A150A|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	150	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTAGGGCCCGGGCTTGTCCCA	0.562													ENSG00000107554																																					0													40.0	43.0	42.0					10																	101716781		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.450C>T	10.37:g.101716781G>A			Q8IVY3|Q9Y2L3	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.A150	ENST00000324109.4	37	c.450	CCDS7485.1	10																																																																																			-	DNMBP	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox		0.562	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	0	0		81	81		0.00		G	NM_015221		101716781	-1	43		63		tier1	no_errors	ENST00000342239	ensembl	human	known	74_37	silent	40.57		SNP	0.999	A	43	63
MARK2	2011	genome.wustl.edu	37	11	63667577	63667577	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63667577C>T	ENST00000509502.2	+	8	1127	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	MARK2_ENST00000361128.5_Missense_Mutation_p.L255F|MARK2_ENST00000377809.4_Missense_Mutation_p.L255F|MARK2_ENST00000508192.1_Missense_Mutation_p.L255F|MARK2_ENST00000315032.8_Missense_Mutation_p.L255F|MARK2_ENST00000408948.3_Missense_Mutation_p.L222F|MARK2_ENST00000402010.2_Missense_Mutation_p.L255F|MARK2_ENST00000413835.2_Missense_Mutation_p.L255F|MARK2_ENST00000502399.3_Missense_Mutation_p.L255F|MARK2_ENST00000425897.2_Missense_Mutation_p.L222F|MARK2_ENST00000377810.3_Missense_Mutation_p.L222F|MARK2_ENST00000350490.7_Missense_Mutation_p.L255F|MARK2_ENST00000513765.2_Missense_Mutation_p.L222F	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGACAGAACCTCAAGGTGGA	0.502													ENSG00000072518																																					0													156.0	169.0	164.0					11																	63667577		2201	4297	6498	SO:0001583	missense	0			-	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.664C>T	11.37:g.63667577C>T	ENSP00000423974:p.Leu222Phe			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L255F	ENST00000509502.2	37	c.763	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	c	23.9	4.472039	0.84533	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.37	5.37	0.77165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.035754	0.64402	D	0.000019	T	0.68412	0.2998	L	0.33245	0.995	0.80722	D	1	D;D;P;D;P;P	0.71674	0.989;0.998;0.928;0.998;0.765;0.928	D;D;P;D;P;P	0.77004	0.95;0.939;0.647;0.989;0.689;0.715	T	0.70048	-0.4979	10	0.87932	D	0	.	11.4851	0.50348	0.0:0.9175:0.0:0.0825	.	222;222;255;255;255;255	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	F	255;255;255;255;222;255;255;255;255;222;222;222;222	ENSP00000385751:L255F;ENSP00000326632:L255F;ENSP00000367040:L255F;ENSP00000389184:L255F;ENSP00000367041:L222F;ENSP00000425765:L255F;ENSP00000355091:L255F;ENSP00000294247:L255F;ENSP00000423974:L222F;ENSP00000421075:L222F;ENSP00000386128:L222F;ENSP00000415494:L222F	ENSP00000326632:L255F	L	+	1	0	MARK2	63424153	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.233000	0.51311	2.806000	0.96561	0.645000	0.84053	CTC	-	MARK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.502	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	0	0		66	66		0.00		C	NM_017490		63667577	+1	33		61		tier1	no_errors	ENST00000402010	ensembl	human	known	74_37	missense	35.11		SNP	1.000	T	33	61
ARHGEF5	7984	genome.wustl.edu	37	7	144068308	144068308	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:144068308G>A	ENST00000056217.5	+	6	3760	c.3586G>A	c.(3586-3588)Gct>Act	p.A1196T	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.A118T	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1196	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1196T(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCTAAACATAGCTGTGGATCA	0.463													ENSG00000050327																																					1	Substitution - Missense(1)	ovary(1)											99.0	100.0	100.0					7																	144068308		2201	4296	6497	SO:0001583	missense	0			-	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.3586G>A	7.37:g.144068308G>A	ENSP00000056217:p.Ala1196Thr		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A1196T	ENST00000056217.5	37	c.3586	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972305	0.74246	.	.	ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847	T;T	0.63096	-0.02;-0.02	4.79	4.79	0.61399	Dbl homology (DH) domain (5);	0.059961	0.64402	D	0.000003	T	0.76392	0.3981	M	0.65320	2	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.78097	-0.2337	10	0.56958	D	0.05	-9.4351	15.6627	0.77199	0.0:0.0:1.0:0.0	.	51;1196	B3KQX6;Q12774	.;ARHG5_HUMAN	T	1196;51;118	ENSP00000056217:A1196T;ENSP00000418227:A118T	ENSP00000056217:A1196T	A	+	1	0	ARHGEF5	143699241	1.000000	0.71417	0.985000	0.45067	0.412000	0.31113	9.143000	0.94623	2.376000	0.81061	0.555000	0.69702	GCT	-	ARHGEF5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.463	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	0	0		277	277		0.00		G	NM_005435		144068308	+1	34		301		tier1	no_errors	ENST00000056217	ensembl	human	known	74_37	missense	10.12		SNP	1.000	A	34	301
C3orf20	84077	genome.wustl.edu	37	3	14813645	14813645	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:14813645G>A	ENST00000253697.3	+	16	3019	c.2567G>A	c.(2566-2568)gGa>gAa	p.G856E	C3orf20_ENST00000435614.1_Missense_Mutation_p.G734E|C3orf20_ENST00000412910.1_Missense_Mutation_p.G734E	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	856						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GATATCCAAGGAAGCAGCTCC	0.552													ENSG00000131379																																					0													132.0	119.0	123.0					3																	14813645		2203	4300	6503	SO:0001583	missense	0			-	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2567G>A	3.37:g.14813645G>A	ENSP00000253697:p.Gly856Glu		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.G856E	ENST00000253697.3	37	c.2567	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821096	0.32237	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.19669	2.43;2.13;2.13	2.95	2.95	0.34219	.	0.000000	0.38492	N	0.001664	T	0.14874	0.0359	L	0.32530	0.975	0.37244	D	0.906274	B;B	0.19935	0.04;0.04	B;B	0.23018	0.043;0.043	T	0.10245	-1.0638	10	0.29301	T	0.29	-12.6383	9.6058	0.39632	0.0:0.0:1.0:0.0	.	734;856	Q8ND61-2;Q8ND61	.;CC020_HUMAN	E	856;734;734	ENSP00000253697:G856E;ENSP00000402933:G734E;ENSP00000396081:G734E	ENSP00000253697:G856E	G	+	2	0	C3orf20	14788649	1.000000	0.71417	0.991000	0.47740	0.067000	0.16453	0.394000	0.20834	1.957000	0.56846	0.491000	0.48974	GGA	-	C3orf20	-	NULL		0.552	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	0	0		56	56		0.00		G	NM_032137		14813645	+1	10		65		tier1	no_errors	ENST00000253697	ensembl	human	known	74_37	missense	13.33		SNP	0.994	A	10	65
SLC25A20	788	genome.wustl.edu	37	3	48896046	48896046	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:48896046G>A	ENST00000319017.4	-	8	935	c.737C>T	c.(736-738)cCt>cTt	p.P246L	SLC25A20_ENST00000430379.1_Missense_Mutation_p.P173L|SLC25A20_ENST00000544097.1_Missense_Mutation_p.P196L	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	246					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GAAACCATTAGGATATTTCCC	0.498													ENSG00000178537																																					0													107.0	101.0	103.0					3																	48896046		2203	4300	6503	SO:0001583	missense	0			-	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.737C>T	3.37:g.48896046G>A	ENSP00000326305:p.Pro246Leu		B2R7F4|Q9UIQ2	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.P246L	ENST00000319017.4	37	c.737	CCDS2779.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.092848	0.94149	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	T;T;T	0.77358	-1.09;-1.09;-1.09	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	L	0.54323	1.7	0.80722	D	1	D;D	0.63880	0.987;0.993	D;D	0.68039	0.95;0.955	T	0.78563	-0.2156	10	0.12766	T	0.61	-19.8974	19.3292	0.94278	0.0:0.0:1.0:0.0	.	173;246	C9JPE1;O43772	.;MCAT_HUMAN	L	173;246;196	ENSP00000388986:P173L;ENSP00000326305:P246L;ENSP00000438731:P196L	ENSP00000326305:P246L	P	-	2	0	SLC25A20	48871050	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.470000	0.97683	2.672000	0.90937	0.650000	0.86243	CCT	-	SLC25A20	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.498	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A20	HGNC	protein_coding	OTTHUMT00000257516.2	0	0		65	65		0.00		G	NM_000387		48896046	-1	30		55		tier1	no_errors	ENST00000319017	ensembl	human	known	74_37	missense	35.29		SNP	1.000	A	30	55
NELL1	4745	genome.wustl.edu	37	11	21305645	21305645	+	Intron	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:21305645A>G	ENST00000357134.5	+	14	1701				NELL1_ENST00000532434.1_Intron|NELL1_ENST00000298925.5_Intron|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						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						TAATGCCATCATGGCAGTTCA	0.453													ENSG00000165973																																					0																																										SO:0001627	intron_variant	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.1549+54645A>G	11.37:g.21305645A>G			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	R	SNP	-	NULL	ENST00000357134.5	37	NULL	CCDS7855.1	11																																																																																			-	NELL1	-	-		0.453	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	0	0		56	56		0.00		A	NM_006157		21305645	+1	17		80		tier1	no_errors	ENST00000529218	ensembl	human	known	74_37	rna	17.53		SNP	0.995	G	17	80
DDIAS	220042	genome.wustl.edu	37	11	82643941	82643941	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:82643941T>C	ENST00000533655.1	+	6	1773	c.1561T>C	c.(1561-1563)Tct>Cct	p.S521P	C11orf82_ENST00000430323.2_Missense_Mutation_p.S521P|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.S220P|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		521					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AGAGGCTGTCTCTGTAAATCA	0.353													ENSG00000165490																																					0													29.0	27.0	28.0					11																	82643941		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000533655.1:c.1561T>C	11.37:g.82643941T>C	ENSP00000435421:p.Ser521Pro		Q96LK6|Q9H856	Missense_Mutation	SNP	pfam_Rep_factor-A_C,superfamily_-bd_OB-fold	p.S521P	ENST00000533655.1	37	c.1561	CCDS8263.1	11	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270284	0.23221	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.23147	2.23;2.23;1.92	5.82	2.19	0.27852	.	0.258162	0.32055	N	0.006653	T	0.19005	0.0456	L	0.59436	1.845	0.09310	N	1	B	0.31680	0.335	B	0.31016	0.123	T	0.15235	-1.0444	9	.	.	.	.	1.801	0.03071	0.149:0.1267:0.1547:0.5696	.	521	Q8IXT1	NOXIN_HUMAN	P	521;521;220	ENSP00000414687:S521P;ENSP00000435421:S521P;ENSP00000329930:S220P	.	S	+	1	0	C11orf82	82321589	0.010000	0.17322	0.040000	0.18447	0.108000	0.19459	1.463000	0.35277	0.437000	0.26423	-0.333000	0.08304	TCT	-	C11orf82	-	NULL		0.353	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	HGNC	protein_coding	OTTHUMT00000391936.1	0	0		76	76		0.00		T			82643941	+1	22		46		tier1	no_errors	ENST00000430323	ensembl	human	known	74_37	missense	32.35		SNP	0.001	C	22	46
MCM3AP	8888	genome.wustl.edu	37	21	47662715	47662715	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47662715C>T	ENST00000397708.1	-	26	5681		c.e26+1		MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_Splice_Site|MCM3AP_ENST00000291688.1_Splice_Site|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATGAACCTCACCGTCCCTCTC	0.388													ENSG00000160294																																					0													141.0	110.0	120.0					21																	47662715		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5426+1G>A	21.37:g.47662715C>T			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Splice_Site	SNP	-	e25+1	ENST00000397708.1	37	c.5426+1	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029220	0.54790	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3151	0.90218	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM3AP	46487143	1.000000	0.71417	0.999000	0.59377	0.431000	0.31685	4.566000	0.60843	2.765000	0.95021	0.655000	0.94253	.	-	MCM3AP	-	-		0.388	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	0	0		33	33		0.00		C	NM_003906	Intron	47662715	-1	24		56		tier1	no_errors	ENST00000291688	ensembl	human	known	74_37	splice_site	30.00		SNP	1.000	T	24	56
CDHR1	92211	genome.wustl.edu	37	10	85967952	85967952	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:85967952G>A	ENST00000372117.3	+	11	1089	c.986G>A	c.(985-987)gGg>gAg	p.G329E	CDHR1_ENST00000440770.2_Missense_Mutation_p.G88E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G329E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGCCCTGCGGGGAGCCCAGCT	0.597													ENSG00000148600																																					0													59.0	58.0	58.0					10																	85967952		2203	4300	6503	SO:0001583	missense	0			-	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.986G>A	10.37:g.85967952G>A	ENSP00000361189:p.Gly329Glu		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G329E	ENST00000372117.3	37	c.986	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418479	0.42918	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.66638	-0.22;-0.22;0.34	5.57	3.65	0.41850	Cadherin (4);Cadherin-like (1);	0.194182	0.53938	D	0.000044	D	0.85155	0.5632	H	0.95079	3.62	0.37786	D	0.92717	D;D;D	0.76494	0.983;0.999;0.991	P;D;D	0.72075	0.876;0.976;0.959	D	0.87409	0.2374	10	0.28530	T	0.3	-15.2308	13.5636	0.61804	0.0:0.0:0.7157:0.2842	.	88;329;329	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	329;329;88	ENSP00000331063:G329E;ENSP00000361189:G329E;ENSP00000415980:G88E	ENSP00000331063:G329E	G	+	2	0	CDHR1	85957932	1.000000	0.71417	0.079000	0.20413	0.188000	0.23474	3.021000	0.49651	0.661000	0.30985	0.491000	0.48974	GGG	-	CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.597	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	0	0		29	29		0.00		G	NM_033100		85967952	+1	10		31		tier1	no_errors	ENST00000372117	ensembl	human	known	74_37	missense	24.39		SNP	0.509	A	10	31
FASTK	10922	genome.wustl.edu	37	7	150776005	150776005	+	Silent	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150776005C>G	ENST00000297532.6	-	3	686	c.609G>C	c.(607-609)ggG>ggC	p.G203G	FASTK_ENST00000489884.1_Intron|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Silent_p.G62G|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	203					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCAACCCTTGCCCACCTCGGA	0.612													ENSG00000164896																																					0													27.0	27.0	27.0					7																	150776005		2202	4299	6501	SO:0001819	synonymous_variant	0			-		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.609G>C	7.37:g.150776005C>G			A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.G203	ENST00000297532.6	37	c.609	CCDS5918.1	7																																																																																			-	FASTK	-	NULL		0.612	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTK	HGNC	protein_coding	OTTHUMT00000351832.2	0	0		51	51		0.00		C	NM_006712		150776005	-1	40		52		tier1	no_errors	ENST00000297532	ensembl	human	known	74_37	silent	43.48		SNP	0.999	G	40	52
VCAM1	7412	genome.wustl.edu	37	1	101196794	101196794	+	Silent	SNP	C	C	T	rs149304647		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:101196794C>T	ENST00000294728.2	+	6	1346	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Silent_p.L323L|VCAM1_ENST00000370119.4_Silent_p.L353L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	415	Ig-like C2-type 5.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGTGGCCTCGTGAATGGGA	0.453													ENSG00000162692	C|||	1	0.000199681	0.0	0.0	5008	,	,		18488	0.0		0.001	False		,,,				2504	0.0																0								C	,,	0,4406		0,0,2203	63.0	64.0	64.0		1245,1059,969	-11.0	0.0	1	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	415/740,353/678,323/648	101196794	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1245C>T	1.37:g.101196794C>T			A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.L415	ENST00000294728.2	37	c.1245	CCDS773.1	1																																																																																			rs149304647	VCAM1	-	NULL		0.453	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	0	0		50	50		0.00		C	NM_001078		101196794	+1	23		48		tier1	no_errors	ENST00000294728	ensembl	human	known	74_37	silent	32.39		SNP	0.000	T	23	48
PRMT6	55170	genome.wustl.edu	37	1	107600229	107600229	+	Missense_Mutation	SNP	G	G	A	rs367981568		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:107600229G>A	ENST00000370078.1	+	1	929	c.892G>A	c.(892-894)Gga>Aga	p.G298R	PRMT6_ENST00000361318.5_Missense_Mutation_p.G239R			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	298	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GACCTTCCCTGGAGGGGAGTC	0.647													ENSG00000198890																																					0													35.0	40.0	39.0					1																	107600229		1960	4164	6124	SO:0001583	missense	0			-	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.892G>A	1.37:g.107600229G>A	ENSP00000359095:p.Gly298Arg		A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tR_Trfase_Trm5/Tyw2	p.G298R	ENST00000370078.1	37	c.892	CCDS41360.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.343050|5.343050	0.95783|0.95783	.|.	.|.	ENSG00000198890|ENSG00000198890	ENST00000361318;ENST00000370078|ENST00000540389	T;T|.	0.22945|.	1.93;1.93|.	5.51|5.51	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|.	0.52451|.	0.1735|.	L|L	0.43923|0.43923	1.385|1.385	0.41019|0.41019	D|D	0.985066|0.985066	B|.	0.06786|.	0.001|.	B|.	0.14023|.	0.01|.	T|.	0.56390|.	-0.7987|.	9|.	0.51188|0.59425	T|D	0.08|0.04	-25.9454|-25.9454	13.5083|13.5083	0.61497|0.61497	0.0:0.1578:0.8422:0.0|0.0:0.1578:0.8422:0.0	.|.	298|.	Q96LA8|.	ANM6_HUMAN|.	R|X	239;298|191	ENSP00000355145:G239R;ENSP00000359095:G298R|.	ENSP00000355145:G239R|ENSP00000440829:W191X	G|W	+|+	1|2	0|0	PRMT6|PRMT6	107401752|107401752	0.999000|0.999000	0.42202|0.42202	0.978000|0.978000	0.43139|0.43139	0.973000|0.973000	0.67179|0.67179	3.006000|3.006000	0.49529|0.49529	2.584000|2.584000	0.87258|0.87258	0.442000|0.442000	0.29010|0.29010	GGA|TGG	-	PRMT6	-	pfam_Arg_MeTrfase		0.647	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT6	HGNC	protein_coding	OTTHUMT00000030185.1	0	0		36	36		0.00		G	NM_018137		107600229	+1	17		44		tier1	no_errors	ENST00000370078	ensembl	human	known	74_37	missense	27.87		SNP	0.853	A	17	44
TFIP11	24144	genome.wustl.edu	37	22	26895474	26895474	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:26895474C>T	ENST00000407690.1	-	9	1208	c.925G>A	c.(925-927)Gag>Aag	p.E309K	TFIP11_ENST00000407431.1_Missense_Mutation_p.E309K|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Missense_Mutation_p.E309K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E309K	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	309					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						GCCTTGGCCTCTTTGCCAGAC	0.602													ENSG00000100109																																					0													73.0	73.0	73.0					22																	26895474		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.925G>A	22.37:g.26895474C>T	ENSP00000384421:p.Glu309Lys		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.E309K	ENST00000407690.1	37	c.925	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758468	0.49468	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.26	4.17	0.49024	.	0.157076	0.56097	D	0.000029	T	0.30854	0.0778	L	0.33137	0.985	0.52501	D	0.999955	B	0.26635	0.155	B	0.24155	0.051	T	0.07385	-1.0775	10	0.17369	T	0.5	-45.4735	14.4038	0.67068	0.0:0.8517:0.1483:0.0	.	309	Q9UBB9	TFP11_HUMAN	K	309	ENSP00000384421:E309K;ENSP00000383892:E309K;ENSP00000385861:E309K;ENSP00000384297:E309K	ENSP00000384297:E309K	E	-	1	0	TFIP11	25225474	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	5.765000	0.68834	2.434000	0.82447	0.655000	0.94253	GAG	-	TFIP11	-	NULL		0.602	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	0	0		28	28		0.00		C	NM_001008697		26895474	-1	13		18		tier1	no_errors	ENST00000405938	ensembl	human	known	74_37	missense	41.94		SNP	1.000	T	13	18
MAP2K5	5607	genome.wustl.edu	37	15	67950923	67950923	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:67950923G>C	ENST00000178640.5	+	12	1396	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	MAP2K5_ENST00000340972.4_Missense_Mutation_p.E67Q|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Missense_Mutation_p.E221Q|MAP2K5_ENST00000395476.2_Missense_Mutation_p.E257Q	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GAAAATGCCAGAACATGTCCT	0.373													ENSG00000137764																																					0													156.0	158.0	157.0					15																	67950923		2200	4298	6498	SO:0001583	missense	0			-	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.769G>C	15.37:g.67950923G>C	ENSP00000178640:p.Glu257Gln		B4DE43|Q92961|Q92962	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E257Q	ENST00000178640.5	37	c.769	CCDS10224.1	15	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476827	0.84640	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043555	0.85682	D	0.000000	T	0.37073	0.0990	M	0.79614	2.46	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;P;D;D	0.76575	0.988;0.881;0.975;0.941	T	0.03969	-1.0988	10	0.87932	D	0	-23.1809	18.5357	0.91009	0.0:0.0:1.0:0.0	.	67;257;257;257	A6NK28;Q13163-2;Q13163;B2RD76	.;.;MP2K5_HUMAN;.	Q	257;257;257;221;67	ENSP00000378859:E257Q;ENSP00000178640:E257Q;ENSP00000346493:E221Q;ENSP00000342101:E67Q	ENSP00000178640:E257Q	E	+	1	0	MAP2K5	65737977	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.777000	0.85628	2.812000	0.96745	0.557000	0.71058	GAA	-	MAP2K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.373	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	HGNC	protein_coding	OTTHUMT00000257041.1	0	0		101	101		0.00		G	NM_145162		67950923	+1	39		29		tier1	no_errors	ENST00000178640	ensembl	human	known	74_37	missense	57.35		SNP	1.000	C	39	29
C8orf22	492307	genome.wustl.edu	37	8	49985427	49985427	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:49985427G>A	ENST00000303202.8	+	2	211	c.38G>A	c.(37-39)aGa>aAa	p.R13K	C8orf22_ENST00000522267.1_Missense_Mutation_p.R13K|C8orf22_ENST00000517663.1_Missense_Mutation_p.R13K|C8orf22_ENST00000399653.4_Missense_Mutation_p.R13K	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	13					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CTTCTAGCCAGAAATCAGTAT	0.423													ENSG00000168333																																					0													189.0	175.0	179.0					8																	49985427		1894	4118	6012	SO:0001583	missense	0			-	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.38G>A	8.37:g.49985427G>A	ENSP00000304926:p.Arg13Lys		G3V137|Q8WVI1	Missense_Mutation	SNP	NULL	p.R13K	ENST00000303202.8	37	c.38	CCDS59101.1	8	.	.	.	.	.	.	.	.	.	.	G	2.700	-0.271275	0.05716	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.36	-1.39	0.08997	.	0.516425	0.15087	N	0.281325	T	0.20414	0.0491	.	.	.	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	7	.	.	.	-6.2201	4.3497	0.11150	0.4569:0.1797:0.3634:0.0	.	13	Q8WWR9-2	.	K	13	.	.	R	+	2	0	C8orf22	50147980	0.947000	0.32204	0.921000	0.36526	0.569000	0.35902	0.025000	0.13577	-0.587000	0.05890	-0.471000	0.05019	AGA	-	C8orf22	-	NULL		0.423	C8orf22-002	KNOWN	basic|CCDS	protein_coding	C8orf22	HGNC	protein_coding	OTTHUMT00000377837.1	0	0		102	102		0.00		G	NM_001007176		49985427	+1	29		88		tier1	no_errors	ENST00000303202	ensembl	human	known	74_37	missense	24.79		SNP	0.930	A	29	88
GLOD4	51031	genome.wustl.edu	37	17	685779	685779	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:685779C>T	ENST00000301328.5	-	0	0				RNMTL1_ENST00000304478.4_Missense_Mutation_p.P54L|GLOD4_ENST00000301329.6_5'Flank|GLOD4_ENST00000536578.1_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AAGCGCGCTCCTGGGAAGCAG	0.667													ENSG00000171861																																					0													33.0	36.0	35.0					17																	685779		2203	4300	6503	SO:0001631	upstream_gene_variant	0			-	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685779C>T	Exception_encountered		D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd	p.P54L	ENST00000301328.5	37	c.161		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.399925|3.399925	0.62177|0.62177	.|.	.|.	ENSG00000167699|ENSG00000171861	ENST00000397393|ENST00000304478	.|T	.|0.20598	.|2.06	5.14|5.14	4.16|4.16	0.48862|0.48862	.|.	.|0.943166	.|0.08900	.|N	.|0.877367	T|T	0.24774|0.24774	0.0601|0.0601	M|M	0.62723|0.62723	1.935|1.935	0.19775|0.19775	N|N	0.999959|0.999959	.|B	.|0.29341	.|0.242	.|B	.|0.27380	.|0.079	T|T	0.19976|0.19976	-1.0289|-1.0289	6|10	0.87932|0.27082	D|T	0|0.32	.|.	12.1474|12.1474	0.54031|0.54031	0.0:0.8279:0.1721:0.0|0.0:0.8279:0.1721:0.0	.|.	.|54	.|Q9HC36	.|RMTL1_HUMAN	R|L	112|54	.|ENSP00000306080:P54L	ENSP00000380548:G112R|ENSP00000306080:P54L	G|P	-|+	1|2	0|0	GLOD4|RNMTL1	632529|632529	0.138000|0.138000	0.22547|0.22547	0.005000|0.005000	0.12908|0.12908	0.455000|0.455000	0.32408|0.32408	2.854000|2.854000	0.48325|0.48325	1.282000|1.282000	0.44496|0.44496	0.563000|0.563000	0.77884|0.77884	GGA|CCT	-	RNMTL1	-	NULL		0.667	GLOD4-005	KNOWN	basic	protein_coding	RNMTL1	HGNC	protein_coding	OTTHUMT00000437190.1	0	0		30	30		0.00		C	NM_016080		685779	+1	13		40		tier1	no_errors	ENST00000304478	ensembl	human	known	74_37	missense	24.53		SNP	0.019	T	13	40
ZNF540	163255	genome.wustl.edu	37	19	38046817	38046817	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38046817C>T	ENST00000592533.1	+	1	260				ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Missense_Mutation_p.G128E|ZNF571-AS1_ENST00000588382.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540						negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ggttgatcccccagagtaggt	0.418													ENSG00000180479																																					0																																										SO:0001627	intron_variant	0			-	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.-73+4250C>T	19.37:g.38046817C>T			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_FMuLV_rcpt-bd,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.G128E	ENST00000592533.1	37	c.383	CCDS12506.1	19																																																																																			-	ZNF571	-	superfamily_FMuLV_rcpt-bd		0.418	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000459481.1	0	0		41	41		0.00		C	NM_152606		38046817	-1	16		53		tier1	no_errors	ENST00000590751	ensembl	human	putative	74_37	missense	23.19		SNP	0.567	T	16	53
ATAD3B	83858	genome.wustl.edu	37	1	1412669	1412669	+	Missense_Mutation	SNP	C	C	T	rs148312059		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:1412669C>T	ENST00000308647.7	+	2	337	c.221C>T	c.(220-222)gCc>gTc	p.A74V	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	74						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCAAGGAGGCCCTGAATCTG	0.612													ENSG00000160072																																					0								C	VAL/ALA	0,4406		0,0,2203	46.0	43.0	44.0		221	2.9	0.9	1	dbSNP_134	44	1,8589		0,1,4294	no	missense	ATAD3B	NM_031921.4	64	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	74/649	1412669	1,12995	2203	4295	6498	SO:0001583	missense	0			-	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.221C>T	1.37:g.1412669C>T	ENSP00000311766:p.Ala74Val		A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A74V	ENST00000308647.7	37	c.221	CCDS30.1	1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.827079	0.50739	0.0	1.16E-4	ENSG00000160072	ENST00000360489;ENST00000308647	T	0.32023	1.47	2.9	2.9	0.33743	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.057449	0.64402	D	0.000001	T	0.47021	0.1423	L	0.55834	1.745	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.42816	-0.9429	10	0.41790	T	0.15	.	12.9335	0.58301	0.0:1.0:0.0:0.0	.	74	Q5T9A4	ATD3B_HUMAN	V	74	ENSP00000311766:A74V	ENSP00000311766:A74V	A	+	2	0	ATAD3B	1402532	1.000000	0.71417	0.910000	0.35882	0.020000	0.10135	6.326000	0.72905	1.460000	0.47911	0.306000	0.20318	GCC	rs148312059	ATAD3B	-	pfam_DUF3523		0.612	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	0	0		65	65		0.00		C	NM_031921		1412669	+1	23		37		tier1	no_errors	ENST00000308647	ensembl	human	known	74_37	missense	37.70		SNP	1.000	T	23	37
ATP1A3	478	genome.wustl.edu	37	19	42482804	42482804	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42482804G>A	ENST00000302102.5	-	12	1734	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	ATP1A3_ENST00000543770.1_Silent_p.F539F|ATP1A3_ENST00000545399.1_Silent_p.F541F|ATP1A3_ENST00000602133.1_Silent_p.F498F	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	528					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGCATTCTGGAAGGCCTCCT	0.657													ENSG00000105409																																					0													76.0	70.0	72.0					19																	42482804		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1584C>T	19.37:g.42482804G>A			B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	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.F528	ENST00000302102.5	37	c.1584	CCDS12594.1	19																																																																																			-	ATP1A3	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC		0.657	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	0	0		29	29		0.00		G	NM_152296		42482804	-1	15		17		tier1	no_errors	ENST00000302102	ensembl	human	known	74_37	silent	46.88		SNP	1.000	A	15	17
NOD1	10392	genome.wustl.edu	37	7	30490913	30490913	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:30490913G>A	ENST00000222823.4	-	6	2645	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	707					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TAGGTCTAGGGCCAGCCGCTT	0.622													ENSG00000106100																																					0													95.0	100.0	98.0					7																	30490913		2203	4300	6503	SO:0001583	missense	0			-	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2120C>T	7.37:g.30490913G>A	ENSP00000222823:p.Ala707Val		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_CARD	p.A707V	ENST00000222823.4	37	c.2120	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917385	0.52546	.	.	ENSG00000106100	ENST00000222823	T	0.51071	0.72	5.71	5.71	0.89125	.	0.101398	0.64402	D	0.000003	T	0.70168	0.3193	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.72456	-0.4288	10	0.66056	D	0.02	.	18.8558	0.92251	0.0:0.0:1.0:0.0	.	707	Q9Y239	NOD1_HUMAN	V	707	ENSP00000222823:A707V	ENSP00000222823:A707V	A	-	2	0	NOD1	30457438	1.000000	0.71417	0.693000	0.30195	0.079000	0.17450	4.721000	0.61951	2.709000	0.92574	0.655000	0.94253	GCC	-	NOD1	-	NULL		0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	0	0		37	37		0.00		G			30490913	-1	16		55		tier1	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	22.54		SNP	1.000	A	16	55
TRPM8	79054	genome.wustl.edu	37	2	234915549	234915549	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:234915549A>T	ENST00000324695.4	+	23	3223	c.3183A>T	c.(3181-3183)gaA>gaT	p.E1061D	TRPM8_ENST00000433712.2_Missense_Mutation_p.E639D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1061					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCATGAAGGAAAACTACCTTG	0.418													ENSG00000144481																																					0													137.0	112.0	120.0					2																	234915549		2203	4300	6503	SO:0001583	missense	0			-	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.3183A>T	2.37:g.234915549A>T	ENSP00000323926:p.Glu1061Asp		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E1061D	ENST00000324695.4	37	c.3183	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	A	19.74	3.882967	0.72410	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.62498	0.02;0.09;0.28	5.81	-1.17	0.09648	.	0.000000	0.64402	D	0.000003	T	0.70343	0.3213	M	0.62723	1.935	0.21020	N	0.999808	P;D	0.64830	0.614;0.994	P;D	0.70716	0.562;0.97	T	0.64058	-0.6496	10	0.66056	D	0.02	-25.3342	9.704	0.40205	0.5699:0.0:0.4301:0.0	.	639;1061	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	D	1061;639;322	ENSP00000323926:E1061D;ENSP00000404423:E639D;ENSP00000414198:E322D	ENSP00000323926:E1061D	E	+	3	2	TRPM8	234580288	0.999000	0.42202	0.990000	0.47175	0.997000	0.91878	0.414000	0.21164	-0.448000	0.07128	0.528000	0.53228	GAA	-	TRPM8	-	NULL		0.418	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	0	0		93	93		0.00		A	NM_024080		234915549	+1	26		45		tier1	no_errors	ENST00000324695	ensembl	human	known	74_37	missense	36.62		SNP	0.997	T	26	45
PCDHA11	56138	genome.wustl.edu	37	5	140250273	140250273	+	Silent	SNP	C	C	T	rs372501884		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140250273C>T	ENST00000398640.2	+	1	1585	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGAGCTGCTACAGTT	0.687													ENSG00000249158																																					0													64.0	71.0	69.0					5																	140250273		2200	4297	6497	SO:0001819	synonymous_variant	0			-	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1585C>T	5.37:g.140250273C>T			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L529	ENST00000398640.2	37	c.1585	CCDS47284.1	5																																																																																			-	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	0	0		89	89		0.00		C	NM_018902		140250273	+1	47		95		tier1	no_errors	ENST00000398640	ensembl	human	known	74_37	silent	32.87		SNP	0.990	T	47	95
GLRA3	8001	genome.wustl.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:175598335G>A	ENST00000274093.3	-	7	1323	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S274L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	274					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GATCCAGAATGAAACCCAGGA	0.478													ENSG00000145451																																					0													113.0	100.0	105.0					4																	175598335		2203	4300	6503	SO:0001583	missense	0			-	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.821C>T	4.37:g.175598335G>A	ENSP00000274093:p.Ser274Leu		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.S274L	ENST00000274093.3	37	c.821	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.325080	0.95708	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.87887	-2.31;-2.31	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.96243	0.9177	10	0.87932	D	0	.	19.5178	0.95171	0.0:0.0:1.0:0.0	.	274;274	O75311-2;O75311	.;GLRA3_HUMAN	L	274	ENSP00000274093:S274L;ENSP00000345284:S274L	ENSP00000274093:S274L	S	-	2	0	GLRA3	175834910	1.000000	0.71417	0.961000	0.40146	0.842000	0.47809	9.718000	0.98758	2.611000	0.88343	0.655000	0.94253	TCA	-	GLRA3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.478	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	0	0		47	47		0.00		G			175598335	-1	20		48		tier1	no_errors	ENST00000274093	ensembl	human	known	74_37	missense	29.41		SNP	1.000	A	20	48
LHFPL5	222662	genome.wustl.edu	37	6	35787301	35787301	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:35787301C>T	ENST00000360215.1	+	3	1053				LHFPL5_ENST00000496656.1_3'UTR	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5						auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CTCTCTGCTTCCTTACTGAAT	0.567													ENSG00000197753																																					0													141.0	128.0	132.0					6																	35787301		692	1591	2283	SO:0001627	intron_variant	0			-	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000360215.1:c.657+61C>T	6.37:g.35787301C>T			B3KX66	R	SNP	-	NULL	ENST00000360215.1	37	NULL	CCDS4812.1	6																																																																																			-	LHFPL5	-	-		0.567	LHFPL5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding		0	0		32	32		0.00		C	NM_182548		35787301	+1	8		43		tier1	no_errors	ENST00000496656	ensembl	human	known	74_37	rna	15.69		SNP	0.000	T	8	43
HCFC1	3054	genome.wustl.edu	37	X	153220527	153220527	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:153220527G>A	ENST00000310441.7	-	17	4289	c.3323C>T	c.(3322-3324)cCc>cTc	p.P1108L	HCFC1_ENST00000354233.3_Missense_Mutation_p.P1039L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P1108L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1108					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTCGCAGGGTGGGTTTGA	0.672													ENSG00000172534																																					0													40.0	45.0	44.0					X																	153220527		2178	4243	6421	SO:0001583	missense	0			-		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3323C>T	X.37:g.153220527G>A	ENSP00000309555:p.Pro1108Leu		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.P1108L	ENST00000310441.7	37	c.3323	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	g	20.3	3.958867	0.74016	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.08546	3.16;3.17;3.08	5.08	4.22	0.49857	.	0.052530	0.85682	N	0.000000	T	0.23370	0.0565	L	0.58810	1.83	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.00324	-1.1817	10	0.72032	D	0.01	.	11.6652	0.51370	0.09:0.0:0.9099:0.0	.	1108	P51610	HCFC1_HUMAN	L	1108;1108;1039	ENSP00000309555:P1108L;ENSP00000359001:P1108L;ENSP00000346174:P1039L	ENSP00000309555:P1108L	P	-	2	0	HCFC1	152873721	1.000000	0.71417	0.626000	0.29213	0.789000	0.44602	7.160000	0.77495	0.934000	0.37316	0.525000	0.51046	CCC	-	HCFC1	-	NULL		0.672	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	0	0		9	9		0.00		G	NM_005334		153220527	-1	14		11		tier1	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	56.00		SNP	0.994	A	14	11
C1orf167	284498	genome.wustl.edu	37	1	11839186	11839186	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:11839186C>T	ENST00000433342.1	+	12	2723				RP11-56N19.5_ENST00000376620.3_RNA			Q5SNV9	CA167_HUMAN	chromosome 1 open reading frame 167											central_nervous_system(1)	1						TTACTGTTTCCCGGCCCCTTC	0.642													ENSG00000177553																																					0																																										SO:0001627	intron_variant	0			-	AL834308		1p36.22	2012-04-20			ENSG00000215910	ENSG00000215910			25262	protein-coding gene	gene with protein product						12370778	Standard	XM_006710065		Approved	DKFZp434E1410, RP11-56N19.2	uc001asy.1	Q5SNV9	OTTHUMG00000002228	ENST00000433342.1:c.2723+49C>T	1.37:g.11839186C>T			Q8NDA9|Q8NDF3	R	SNP	-	NULL	ENST00000433342.1	37	NULL		1																																																																																			-	RP11-56N19.5	-	-		0.642	C1orf167-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000177553	Clone_based_vega_gene	protein_coding		0	0		90	90		0.00		C			11839186	-1	23		94		tier1	no_errors	ENST00000376620	ensembl	human	known	74_37	rna	19.49		SNP	0.001	T	23	94
COL4A3	1285	genome.wustl.edu	37	2	228104875	228104875	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:228104875C>T	ENST00000396578.3	+	3	323	c.161C>T	c.(160-162)cCt>cTt	p.P54L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	54	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGCTTTCCTGGACCCCCC	0.502													ENSG00000169031																																					0													51.0	52.0	52.0					2																	228104875		1885	4123	6008	SO:0001583	missense	0			-		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.161C>T	2.37:g.228104875C>T	ENSP00000379823:p.Pro54Leu		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P54L	ENST00000396578.3	37	c.161	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087184	0.55968	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97731	-4.51	5.87	5.0	0.66597	.	0.112285	0.41097	D	0.000960	D	0.98043	0.9355	M	0.79614	2.46	0.47308	D	0.999386	B;B;D;P	0.89917	0.215;0.356;1.0;0.855	B;B;D;P	0.91635	0.139;0.231;0.999;0.741	D	0.98258	1.0497	10	0.08179	T	0.78	.	11.2146	0.48819	0.0:0.9154:0.0:0.0846	.	54;54;54;54	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	54	ENSP00000379823:P54L	ENSP00000323334:P54L	P	+	2	0	COL4A3	227813119	0.666000	0.27475	0.453000	0.27007	0.460000	0.32559	3.937000	0.56575	1.498000	0.48600	0.650000	0.86243	CCT	-	COL4A3	-	pfam_Collagen		0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	0	0		51	51		0.00		C	NM_000091		228104875	+1	22		40		tier1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	35.48		SNP	0.844	T	22	40
RBBP8	5932	genome.wustl.edu	37	18	20572926	20572926	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:20572926C>T	ENST00000399722.2	+	11	1487	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	RBBP8_ENST00000360790.5_Missense_Mutation_p.S379F|RBBP8_ENST00000399725.2_Missense_Mutation_p.S379F|RBBP8_ENST00000327155.5_Missense_Mutation_p.S379F	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	379					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGATCAAAATCTGAAGATAGT	0.328								Homologous recombination					ENSG00000101773																																					0													64.0	68.0	67.0					18																	20572926		2203	4300	6503	SO:0001583	missense	0			-	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1136C>T	18.37:g.20572926C>T	ENSP00000382628:p.Ser379Phe		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_D-repair_Sae2/CtIP	p.S379F	ENST00000399722.2	37	c.1136	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	c	17.63	3.438200	0.62955	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.48201	0.89;0.82;0.89;0.88;0.89	6.17	5.31	0.75309	.	0.305365	0.36268	N	0.002693	T	0.70029	0.3177	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.986;0.987	T	0.74842	-0.3527	10	0.87932	D	0	-10.3132	17.8654	0.88794	0.0:0.8784:0.1216:0.0	.	379;379;379	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	F	379	ENSP00000323050:S379F;ENSP00000382630:S379F;ENSP00000382628:S379F;ENSP00000382627:S379F;ENSP00000354024:S379F	ENSP00000323050:S379F	S	+	2	0	RBBP8	18826924	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.794000	0.55492	1.643000	0.50594	-0.121000	0.15023	TCT	-	RBBP8	-	NULL		0.328	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	0	0		132	132		0.00		C	NM_203291		20572926	+1	34		127		tier1	no_errors	ENST00000327155	ensembl	human	known	74_37	missense	20.99		SNP	1.000	T	34	127
ITIH1	3697	genome.wustl.edu	37	3	52817259	52817259	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52817259G>A	ENST00000273283.2	+	10	1153	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	ITIH1_ENST00000537050.1_Missense_Mutation_p.G89R|ITIH1_ENST00000542827.1_Missense_Mutation_p.G377R|ITIH1_ENST00000540715.1_Missense_Mutation_p.G235R	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	377	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTGCTCCGGGGAATTGAGAT	0.502													ENSG00000055957																																					0													92.0	81.0	85.0					3																	52817259		2203	4300	6503	SO:0001583	missense	0			-		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1129G>A	3.37:g.52817259G>A	ENSP00000273283:p.Gly377Arg		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G377R	ENST00000273283.2	37	c.1129	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.347467	0.95807	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050	T;T;T;D	0.83837	-1.21;-1.21;-1.21;-1.77	5.8	5.8	0.92144	von Willebrand factor, type A (3);	0.125415	0.56097	D	0.000036	D	0.91683	0.7371	M	0.77616	2.38	0.54753	D	0.999983	D	0.89917	1.0	D	0.87578	0.998	D	0.91902	0.5532	10	0.87932	D	0	-11.8201	19.7286	0.96174	0.0:0.0:1.0:0.0	.	377	P19827	ITIH1_HUMAN	R	377;377;235;89	ENSP00000442584:G377R;ENSP00000273283:G377R;ENSP00000443973:G235R;ENSP00000443847:G89R	ENSP00000273283:G377R	G	+	1	0	ITIH1	52792299	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	6.986000	0.76200	2.775000	0.95449	0.650000	0.86243	GGA	-	ITIH1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.502	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	0	0		69	69		0.00		G	NM_002215		52817259	+1	30		65		tier1	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	31.58		SNP	1.000	A	30	65
CCDC157	550631	genome.wustl.edu	37	22	30766813	30766813	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:30766813C>T	ENST00000405659.1	+	5	1628	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	CCDC157_ENST00000338306.3_Silent_p.L307L			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	307										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GAAGGATGGCCTGAGGAAGCA	0.662													ENSG00000187860																																					0													31.0	27.0	28.0					22																	30766813		2201	4300	6501	SO:0001819	synonymous_variant	0			-	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.919C>T	22.37:g.30766813C>T			Q0VD76|Q9BYA4	Silent	SNP	superfamily_Prefoldin,superfamily_t-SRE	p.L307	ENST00000405659.1	37	c.919	CCDS33632.2	22																																																																																			-	CCDC157	-	superfamily_t-SRE		0.662	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	HGNC	protein_coding	OTTHUMT00000320936.1	0	0		27	27		0.00		C	NM_001017437		30766813	+1	17		17		tier1	no_errors	ENST00000338306	ensembl	human	known	74_37	silent	50.00		SNP	0.978	T	17	17
SPG7	6687	genome.wustl.edu	37	16	89623560	89623560	+	3'UTR	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:89623560C>A	ENST00000268704.2	+	0	2462				SPG7_ENST00000565891.1_3'UTR	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		ACTCAGCCACCCTGAGTTGCT	0.572											OREG0024053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000197912																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.*59C>A	16.37:g.89623560C>A		1268	O75756|Q2TB70|Q58F00|Q96IB0	R	SNP	-	NULL	ENST00000268704.2	37	NULL	CCDS10977.1	16																																																																																			-	SPG7	-	-		0.572	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	0	0		23	23		0.00		C	NM_003119		89623560	+1	3		9		tier1	no_errors	ENST00000565891	ensembl	human	known	74_37	rna	25.00		SNP	0.000	A	3	9
GRM5	2915	genome.wustl.edu	37	11	88780694	88780694	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:88780694G>A	ENST00000305447.4	-	1	496	c.347C>T	c.(346-348)tCc>tTc	p.S116F	GRM5_ENST00000305432.5_Missense_Mutation_p.S116F|GRM5_ENST00000393297.1_Missense_Mutation_p.S116F|GRM5_ENST00000455756.2_Missense_Mutation_p.S116F|GRM5_ENST00000418177.2_Missense_Mutation_p.S116F|GRM5_ENST00000393294.3_Missense_Mutation_p.S116F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	116					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGAAATGAGGGAATCTCTTAT	0.537													ENSG00000168959																																					0													76.0	66.0	70.0					11																	88780694		2201	4299	6500	SO:0001583	missense	0			-	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.347C>T	11.37:g.88780694G>A	ENSP00000306138:p.Ser116Phe		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.S116F	ENST00000305447.4	37	c.347	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293726	0.80914	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.176519	0.51477	D	0.000086	D	0.92786	0.7706	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.922;0.954	D	0.92105	0.5691	9	.	.	.	.	19.1788	0.93614	0.0:0.0:1.0:0.0	.	116;116;116	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	F	116	ENSP00000402912:S116F;ENSP00000405690:S116F;ENSP00000305905:S116F;ENSP00000306138:S116F;ENSP00000376975:S116F;ENSP00000376972:S116F	.	S	-	2	0	GRM5	88420342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.671000	0.98627	2.514000	0.84764	0.563000	0.77884	TCC	-	GRM5	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.537	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	0	0		52	52		0.00		G	NM_000842		88780694	-1	33		45		tier1	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	42.31		SNP	1.000	A	33	45
CD163L1	283316	genome.wustl.edu	37	12	7522176	7522176	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7522176A>T	ENST00000313599.3	-	15	3873	c.3816T>A	c.(3814-3816)gaT>gaA	p.D1272E	CD163L1_ENST00000396630.1_Missense_Mutation_p.D1272E|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1282E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1272	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCAGGAGTCATCACACACTG	0.602													ENSG00000177675																																					0													89.0	86.0	87.0					12																	7522176		2203	4300	6503	SO:0001583	missense	0			-	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3816T>A	12.37:g.7522176A>T	ENSP00000315945:p.Asp1272Glu		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.D1272E	ENST00000313599.3	37	c.3816	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	A	17.29	3.351107	0.61183	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	2.67	-3.03	0.05429	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.114087	0.36555	U	0.002530	T	0.64746	0.2626	H	0.96970	3.915	0.24179	N	0.995594	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57854	-0.7739	10	0.87932	D	0	.	8.0869	0.30777	0.5443:0.0:0.4557:0.0	.	1282;1272	E7EVK4;Q9NR16	.;C163B_HUMAN	E	1272;1282;1272	ENSP00000315945:D1272E;ENSP00000393474:D1282E;ENSP00000379871:D1272E	ENSP00000315945:D1272E	D	-	3	2	CD163L1	7413443	0.998000	0.40836	0.079000	0.20413	0.093000	0.18481	0.785000	0.26830	-0.687000	0.05162	-0.468000	0.05107	GAT	-	CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.602	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	0	0		50	50		0.00		A	NM_174941		7522176	-1	20		28		tier1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	41.67		SNP	0.995	T	20	28
BST1	683	genome.wustl.edu	37	4	15716985	15716985	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:15716985G>A	ENST00000265016.4	+	5	806		c.e5+1		BST1_ENST00000382346.3_Splice_Site	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1						humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CCATCAAAGGGTAAGAACACC	0.388													ENSG00000109743																																					0													104.0	97.0	99.0					4																	15716985		2203	4300	6503	SO:0001630	splice_region_variant	0			-	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.611+1G>A	4.37:g.15716985G>A			B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Splice_Site	SNP	-	e5+1	ENST00000265016.4	37	c.611+1	CCDS3416.1	4	.	.	.	.	.	.	.	.	.	.	G	17.93	3.510192	0.64522	.	.	ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000505785;ENST00000514445;ENST00000514989	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3599	0.83257	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BST1	15326083	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.218000	0.65257	2.937000	0.99478	0.650000	0.86243	.	-	BST1	-	-		0.388	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	0	0		81	81		0.00		G	NM_004334	Intron	15716985	+1	42		61		tier1	no_errors	ENST00000265016	ensembl	human	known	74_37	splice_site	40.78		SNP	1.000	A	42	61
RFPL2	10739	genome.wustl.edu	37	22	32586917	32586917	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:32586917G>A	ENST00000400237.1	-	5	1914	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	RFPL2_ENST00000400236.3_Missense_Mutation_p.H237Y|RFPL2_ENST00000248983.4_Missense_Mutation_p.H237Y|RFPL2_ENST00000248980.4_Missense_Mutation_p.H266Y|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTATAGACATGGGAACCACTT	0.478													ENSG00000128253																																					0													62.0	75.0	70.0					22																	32586917		2203	4300	6503	SO:0001583	missense	0			-	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.979C>T	22.37:g.32586917G>A	ENSP00000383096:p.His327Tyr			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.H327Y	ENST00000400237.1	37	c.979	CCDS43009.2	22	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327809	0.24080	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	0.351	0.351	0.16042	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.78355	0.4270	M	0.92219	3.285	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.63453	-0.6634	9	0.59425	D	0.04	.	2.7657	0.05319	0.4108:0.0:0.5892:0.0	.	327;266	O75678;O75678-3	RFPL2_HUMAN;.	Y	266;237;237;327	ENSP00000248980:H266Y;ENSP00000248983:H237Y;ENSP00000383095:H237Y;ENSP00000383096:H327Y	ENSP00000248980:H266Y	H	-	1	0	RFPL2	30916917	0.386000	0.25180	0.031000	0.17742	0.032000	0.12392	3.378000	0.52432	0.399000	0.25367	0.404000	0.27445	CAT	-	RFPL2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.478	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	0	0		84	84		0.00		G	NM_006605		32586917	-1	32		97		tier1	no_errors	ENST00000400237	ensembl	human	known	74_37	missense	24.81		SNP	0.300	A	32	97
ASTN1	460	genome.wustl.edu	37	1	176918416	176918416	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:176918416G>A	ENST00000367654.3	-	12	2194	c.1983C>T	c.(1981-1983)tcC>tcT	p.S661S	ASTN1_ENST00000361833.2_Silent_p.S653S|ASTN1_ENST00000367657.3_Silent_p.S653S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.S653S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	661	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGAAGCCGTCGGAACAGTCCA	0.582											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000152092																																					0													59.0	58.0	58.0					1																	176918416		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1983C>T	1.37:g.176918416G>A		1934	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.S661	ENST00000367654.3	37	c.1983		1																																																																																			-	ASTN1	-	smart_EG-like_dom		0.582	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		0	0		43	43		0.00		G	NM_004319		176918416	-1	27		60		tier1	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	31.03		SNP	0.000	A	27	60
MYRIP	25924	genome.wustl.edu	37	3	40275400	40275400	+	Silent	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:40275400C>G	ENST00000302541.6	+	12	2298	c.1956C>G	c.(1954-1956)gtC>gtG	p.V652V	MYRIP_ENST00000444716.1_Silent_p.V652V|MYRIP_ENST00000396217.3_Silent_p.V563V|MYRIP_ENST00000539167.1_Silent_p.V465V|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	652	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCCTGAAAGTCATCAATGCCA	0.498													ENSG00000170011																																					0													90.0	87.0	88.0					3																	40275400		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1956C>G	3.37:g.40275400C>G			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.V652	ENST00000302541.6	37	c.1956	CCDS2689.1	3																																																																																			-	MYRIP	-	pfam_Myrip/Melanophilin		0.498	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	0	0		53	53		0.00		C	NM_015460		40275400	+1	18		65		tier1	no_errors	ENST00000302541	ensembl	human	known	74_37	silent	21.69		SNP	1.000	G	18	65
RELN	5649	genome.wustl.edu	37	7	103301975	103301975	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:103301975C>T	ENST00000428762.1	-	12	1449		c.e12-1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GACATCCCATCTAAAAAAAAA	0.353													ENSG00000189056																									NSCLC(146;835 1944 15585 22231 52158)												0													71.0	62.0	65.0					7																	103301975		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1290-1G>A	7.37:g.103301975C>T			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	-	e12-1	ENST00000428762.1	37	c.1290-1	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472418	0.43942	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1135	0.89543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103089211	1.000000	0.71417	0.992000	0.48379	0.218000	0.24690	4.648000	0.61425	2.281000	0.76405	0.467000	0.42956	.	-	RELN	-	-		0.353	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	0	0		41	41		0.00		C	NM_005045	Intron	103301975	-1	24		29		tier1	no_errors	ENST00000424685	ensembl	human	known	74_37	splice_site	45.28		SNP	1.000	T	24	29
ADAMTS2	9509	genome.wustl.edu	37	5	178541189	178541189	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:178541189C>T	ENST00000251582.7	-	22	3416	c.3315G>A	c.(3313-3315)agG>agA	p.R1105R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1105					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGGCTCTATCCTGCCCTCCA	0.572													ENSG00000087116																																					0													163.0	123.0	137.0					5																	178541189		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3315G>A	5.37:g.178541189C>T				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R1105	ENST00000251582.7	37	c.3315	CCDS4444.1	5																																																																																			-	ADAMTS2	-	NULL		0.572	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	0	0		47	47		0.00		C	NM_014244		178541189	-1	32		43		tier1	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	42.11		SNP	0.000	T	32	43
LYPLA1	10434	genome.wustl.edu	37	8	54960525	54960525	+	3'UTR	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:54960525C>A	ENST00000316963.3	-	0	986				RP11-30L15.6_ENST00000565668.2_lincRNA|LYPLA1_ENST00000343231.6_3'UTR	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I						fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			AACATTTTAACACTGCAAAAC	0.328													ENSG00000120992																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.*100G>T	8.37:g.54960525C>A			O43202|Q9UQF9	R	SNP	-	NULL	ENST00000316963.3	37	NULL	CCDS6157.1	8																																																																																			-	LYPLA1	-	-		0.328	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	HGNC	protein_coding	OTTHUMT00000378238.1	0	0		74	74		0.00		C			54960525	-1	28		64		tier1	no_errors	ENST00000519272	ensembl	human	known	74_37	rna	30.43		SNP	1.000	A	28	64
HIVEP3	59269	genome.wustl.edu	37	1	41979136	41979136	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:41979136G>A	ENST00000372583.1	-	8	6641	c.5756C>T	c.(5755-5757)tCg>tTg	p.S1919L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1919L|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1919L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1919L|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1919	Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCAGCTTCCGAGACCGAGCT	0.687													ENSG00000127124																																					0													14.0	17.0	16.0					1																	41979136		2188	4286	6474	SO:0001583	missense	0			-	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5756C>T	1.37:g.41979136G>A	ENSP00000361664:p.Ser1919Leu		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1919L	ENST00000372583.1	37	c.5756	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	5.708	0.315168	0.10789	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	4.98	0.831	0.18860	.	0.785571	0.10820	N	0.630559	T	0.04003	0.0112	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44620	-0.9316	10	0.28530	T	0.3	-0.905	10.4248	0.44371	0.3754:0.0:0.6246:0.0	.	1919;1919	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1919	ENSP00000361665:S1919L;ENSP00000361664:S1919L;ENSP00000247584:S1919L;ENSP00000410828:S1919L	ENSP00000247584:S1919L	S	-	2	0	HIVEP3	41751723	0.002000	0.14202	0.003000	0.11579	0.028000	0.11728	0.339000	0.19875	0.213000	0.20722	-0.119000	0.15052	TCG	-	HIVEP3	-	NULL		0.687	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	0	0		12	12		0.00		G	NM_024503		41979136	-1	4		12		tier1	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	25.00		SNP	0.001	A	4	12
MBD6	114785	genome.wustl.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57921401delC	ENST00000355673.3	+	8	2550	c.2194delC	c.(2194-2196)cccfs	p.P733fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.P733fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	733	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						CTCAGGGAGACCCCCCCAACT	0.602													ENSG00000166987																																					0													72.0	82.0	78.0					12																	57921401		2203	4300	6503	SO:0001589	frameshift_variant	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.2194delC	12.37:g.57921401delC	ENSP00000347896:p.Pro733fs		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd	p.Q734fs	ENST00000355673.3	37	c.2194	CCDS8944.1	12																																																																																				MBD6	-	NULL		0.602	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	0	0		45	45		0.00		C			57921401	+1	8		58		tier1	no_errors	ENST00000355673	ensembl	human	known	74_37	frame_shift_del	12.12		DEL	1.000	-	8	58
ZNF549	256051	genome.wustl.edu	37	19	58046563	58046563	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:58046563G>A	ENST00000376233.3	+	3	305	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.G29S|ZNF549_ENST00000602149.1_Missense_Mutation_p.G42S	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	42	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(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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)		GGAGGAGTGGGGCCTCCTTGA	0.488													ENSG00000121406																																					0													185.0	153.0	164.0					19																	58046563		2203	4300	6503	SO:0001583	missense	0			-	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.124G>A	19.37:g.58046563G>A	ENSP00000365407:p.Gly42Ser		B3KV91|O43336|Q8NAR4	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.G42S	ENST00000376233.3	37	c.124	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	G	8.719	0.914003	0.17907	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.01902	4.57;4.57	2.48	-1.53	0.08611	Krueppel-associated box (4);	.	.	.	.	T	0.02304	0.0071	M	0.66939	2.045	0.21697	N	0.999582	P;B	0.36010	0.532;0.198	B;B	0.32928	0.063;0.155	T	0.44528	-0.9322	9	0.12430	T	0.62	.	4.1166	0.10084	0.2661:0.2173:0.5167:0.0	.	42;29	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	S	29;42	ENSP00000240719:G29S;ENSP00000365407:G42S	ENSP00000240719:G29S	G	+	1	0	ZNF549	62738375	0.176000	0.23096	0.338000	0.25549	0.935000	0.57460	0.145000	0.16157	-0.382000	0.07870	-0.211000	0.12701	GGC	-	ZNF549	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.488	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1	0	0		73	73		0.00		G	NM_153263		58046563	+1	30		62		tier1	no_errors	ENST00000376233	ensembl	human	known	74_37	missense	32.61		SNP	0.522	A	30	62
BTBD18	643376	genome.wustl.edu	37	11	57513366	57513366	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:57513366C>T	ENST00000436147.3	-	2	566	c.379G>A	c.(379-381)Ggt>Agt	p.G127S	RP11-691N7.6_ENST00000531074.1_Intron|BTBD18_ENST00000422652.1_Missense_Mutation_p.G127S|TMX2-CTNND1_ENST00000528395.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	127										endometrium(3)|kidney(1)	4						AACTTTCCACCCTCAAGCTGA	0.542													ENSG00000233436																																					0													37.0	34.0	35.0					11																	57513366		692	1591	2283	SO:0001583	missense	0			-		CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.379G>A	11.37:g.57513366C>T	ENSP00000397020:p.Gly127Ser			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.G127S	ENST00000436147.3	37	c.379	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448014	0.63178	.	.	ENSG00000233436	ENST00000422652;ENST00000436147	T;T	0.78707	-1.2;-1.2	5.19	5.19	0.71726	BTB/POZ-like (1);	.	.	.	.	T	0.66396	0.2785	N	0.08118	0	0.27073	N	0.963279	P	0.46457	0.878	P	0.44673	0.457	T	0.63686	-0.6581	9	0.48119	T	0.1	.	15.9863	0.80155	0.0:1.0:0.0:0.0	.	127	B2RXH4	BTBDI_HUMAN	S	127	ENSP00000394472:G127S;ENSP00000397020:G127S	ENSP00000394472:G127S	G	-	1	0	BTBD18	57269942	0.979000	0.34478	1.000000	0.80357	0.974000	0.67602	4.816000	0.62642	2.589000	0.87451	0.561000	0.74099	GGT	-	BTBD18	-	smart_BTB/POZ-like		0.542	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD18	HGNC	protein_coding	OTTHUMT00000393718.2	0	0		26	26		0.00		C	NM_001145101		57513366	-1	5		27		tier1	no_errors	ENST00000422652	ensembl	human	known	74_37	missense	15.62		SNP	1.000	T	5	27
CLEC18C	283971	genome.wustl.edu	37	16	70208238	70208238	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:70208238C>T	ENST00000569347.2	+	1	311	c.57C>T	c.(55-57)gcC>gcT	p.A19A	RP11-296I10.3_ENST00000502126.1_RNA|CLEC18C_ENST00000314151.8_Silent_p.A19A|CLEC18C_ENST00000541793.2_Silent_p.A19A|RP11-296I10.3_ENST00000566989.1_RNA|CLEC18C_ENST00000536907.2_Silent_p.A19A	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	19						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						TGCTCCTGGCCCTCCTTGGCA	0.682													ENSG00000157335																																					0													1.0	1.0	1.0					16																	70208238		230	592	822	SO:0001819	synonymous_variant	0			-	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.57C>T	16.37:g.70208238C>T			Q8IUW8	Silent	SNP	pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,prints_Allrgn_V5/Tpx1,pfscan_EG-like_dom,pfscan_C-type_lectin	p.A19	ENST00000569347.2	37	c.57	CCDS32473.1	16																																																																																			-	CLEC18C	-	NULL		0.682	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18C	HGNC	protein_coding	OTTHUMT00000434588.2	0	0		31	31		0.00		C	NM_173619		70208238	+1	13		19		tier1	no_errors	ENST00000314151	ensembl	human	known	74_37	silent	39.39		SNP	0.974	T	13	19
OR2A14	135941	genome.wustl.edu	37	7	143826481	143826481	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:143826481C>T	ENST00000408899.2	+	1	331	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCACCATCTCCTTTTTTCCAT	0.438													ENSG00000221938																																					0													301.0	278.0	286.0					7																	143826481		2084	4232	6316	SO:0001819	synonymous_variant	0			-		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.276C>T	7.37:g.143826481C>T			Q6IF41|Q8NGT8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S92	ENST00000408899.2	37	c.276	CCDS43672.1	7																																																																																			-	OR2A14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	HGNC	protein_coding	OTTHUMT00000349980.1	0	0		39	39		0.00		C			143826481	+1	19		25		tier1	no_errors	ENST00000408899	ensembl	human	known	74_37	silent	43.18		SNP	0.001	T	19	25
OR4F15	390649	genome.wustl.edu	37	15	102358585	102358585	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:102358585C>T	ENST00000332238.4	+	1	220	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCTGGCTAACCTCTCAATCAT	0.428													ENSG00000182854																																					0													258.0	222.0	234.0					15																	102358585		2203	4300	6503	SO:0001583	missense	0			-	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.196C>T	15.37:g.102358585C>T	ENSP00000333184:p.Leu66Phe		B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66F	ENST00000332238.4	37	c.196	CCDS32342.1	15	.	.	.	.	.	.	.	.	.	.	.	19.26	3.793496	0.70452	.	.	ENSG00000182854	ENST00000332238	T	0.00354	7.93	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.00468	0.0015	M	0.79123	2.44	0.42552	D	0.993118	P	0.45531	0.86	B	0.43360	0.417	D	0.83650	0.0155	9	.	.	.	.	17.0978	0.86641	0.0:1.0:0.0:0.0	.	66	Q8NGB8	O4F15_HUMAN	F	66	ENSP00000333184:L66F	.	L	+	1	0	OR4F15	100176108	0.623000	0.27094	0.990000	0.47175	0.996000	0.88848	1.250000	0.32850	2.902000	0.99343	0.650000	0.86243	CTC	-	OR4F15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	HGNC	protein_coding	OTTHUMT00000417594.1	0	0		91	91		0.00		C	NM_001001674		102358585	+1	34		36		tier1	no_errors	ENST00000332238	ensembl	human	known	74_37	missense	48.57		SNP	1.000	T	34	36
WDHD1	11169	genome.wustl.edu	37	14	55480289	55480289	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:55480289C>A	ENST00000360586.3	-	3	168	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C	WDHD1_ENST00000421192.1_5'UTR|WDHD1_ENST00000420358.2_5'UTR	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	35					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTCACATCACCATCACTTCCA	0.388													ENSG00000198554																																					0													160.0	136.0	144.0					14																	55480289		2203	4300	6503	SO:0001583	missense	0			-	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.103G>T	14.37:g.55480289C>A	ENSP00000353793:p.Gly35Cys		C9JW18|F6W0U7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G35C	ENST00000360586.3	37	c.103	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814456	0.90790	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	T;T	0.64991	-0.13;-0.13	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82900	-0.0228	10	0.56958	D	0.05	-25.5596	19.839	0.96675	0.0:1.0:0.0:0.0	.	35	O75717	WDHD1_HUMAN	C	35	ENSP00000353793:G35C;ENSP00000413435:G35C	ENSP00000353793:G35C	G	-	1	0	WDHD1	54550039	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.220000	0.78008	2.682000	0.91365	0.491000	0.48974	GGT	-	WDHD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.388	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	0	0		44	44		0.00		C	NM_007086		55480289	-1	4		27		tier1	no_errors	ENST00000360586	ensembl	human	known	74_37	missense	12.90		SNP	1.000	A	4	27
FBXL13	222235	genome.wustl.edu	37	7	102517933	102517933	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:102517933C>T	ENST00000313221.4	-	16	2042	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E	FBXL13_ENST00000393772.2_Missense_Mutation_p.G539E|FBXL13_ENST00000436908.1_Missense_Mutation_p.G539E|FBXL13_ENST00000455112.2_Missense_Mutation_p.G539E|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.G539E|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.G539E	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	539										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GATGTCTGTTCCAGAGAGATC	0.284													ENSG00000161040																																					0													59.0	60.0	59.0					7																	102517933		2202	4295	6497	SO:0001583	missense	0			-	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1616G>A	7.37:g.102517933C>T	ENSP00000321927:p.Gly539Glu		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.G539E	ENST00000313221.4	37	c.1616	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658211	0.67586	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.54866	0.55;4.3;0.55;4.3;4.3;4.3	5.55	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.64630	1.985	0.80722	D	1	D;D;D	0.71674	0.984;0.996;0.998	P;P;D	0.68353	0.785;0.846;0.957	T	0.69684	-0.5079	10	0.56958	D	0.05	.	15.7926	0.78376	0.0:0.8638:0.1362:0.0	.	539;539;539	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	E	539;539;260;539;539;539;539	ENSP00000377367:G539E;ENSP00000368610:G539E;ENSP00000368607:G539E;ENSP00000388608:G539E;ENSP00000321927:G539E;ENSP00000391550:G539E	ENSP00000321927:G539E	G	-	2	0	FBXL13	102305169	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.491000	0.35583	2.761000	0.94854	0.557000	0.71058	GGA	-	FBXL13	-	NULL		0.284	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	0	0		118	118		0.00		C	NM_145032		102517933	-1	54		97		tier1	no_errors	ENST00000313221	ensembl	human	known	74_37	missense	35.76		SNP	1.000	T	54	97
ZIC3	7547	genome.wustl.edu	37	X	136652049	136652049	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:136652049G>A	ENST00000287538.5	+	3	1774		c.e3-1		ZIC3_ENST00000370606.3_Intron|ZIC3_ENST00000478471.1_Splice_Site	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3						anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GTTAATTTTAGGTTCATGAAT	0.413													ENSG00000156925																																					0													51.0	52.0	52.0					X																	136652049		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1225-1G>A	X.37:g.136652049G>A			B2CNW4|Q14DE5|Q5JY75	Splice_Site	SNP	-	e3-1	ENST00000287538.5	37	c.1225-1	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544022	0.45280	.	.	ENSG00000156925	ENST00000287538	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1822	0.89782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZIC3	136479715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.517000	0.84864	0.600000	0.82982	.	-	ZIC3	-	-		0.413	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	0	0		28	28		0.00		G		Intron	136652049	+1	27		15		tier1	no_errors	ENST00000287538	ensembl	human	known	74_37	splice_site	64.29		SNP	1.000	A	27	15
STAB1	23166	genome.wustl.edu	37	3	52557975	52557975	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52557975G>A	ENST00000321725.6	+	67	7560	c.7484G>A	c.(7483-7485)gGa>gAa	p.G2495E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2495					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTGGTGGCCGGAGCTCTCTAC	0.657													ENSG00000010327																																					0													24.0	26.0	25.0					3																	52557975		2199	4296	6495	SO:0001583	missense	0			-	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7484G>A	3.37:g.52557975G>A	ENSP00000312946:p.Gly2495Glu		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G2495E	ENST00000321725.6	37	c.7484	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843017	0.32606	.	.	ENSG00000010327	ENST00000321725	D	0.85339	-1.97	4.39	2.53	0.30540	.	0.163372	0.38164	N	0.001796	D	0.86606	0.5973	M	0.64997	1.995	0.33270	D	0.560873	D;P	0.56035	0.974;0.931	P;B	0.53450	0.726;0.444	D	0.88914	0.3361	10	0.54805	T	0.06	.	10.7866	0.46409	0.0:0.3738:0.6262:0.0	.	407;2495	B3KSK0;Q9NY15	.;STAB1_HUMAN	E	2495	ENSP00000312946:G2495E	ENSP00000312946:G2495E	G	+	2	0	STAB1	52533015	0.054000	0.20591	0.415000	0.26534	0.092000	0.18411	0.206000	0.17375	0.748000	0.32831	-0.305000	0.09177	GGA	-	STAB1	-	NULL		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	0	0		29	29		0.00		G	NM_015136		52557975	+1	11		35		tier1	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	23.40		SNP	0.520	A	11	35
TGM2	7052	genome.wustl.edu	37	20	36760823	36760823	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:36760823G>A	ENST00000361475.2	-	11	1868	c.1695C>T	c.(1693-1695)gcC>gcT	p.A565A	TGM2_ENST00000536724.1_Silent_p.A505A|TGM2_ENST00000536701.1_Silent_p.A484A	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	565					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCACGAGGAGGGCCCGCACCT	0.547													ENSG00000198959																																					0													173.0	173.0	173.0					20																	36760823		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1695C>T	20.37:g.36760823G>A			E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A565	ENST00000361475.2	37	c.1695	CCDS13302.1	20																																																																																			-	TGM2	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.547	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	0	0		64	64		0.00		G	NM_198951		36760823	-1	33		44		tier1	no_errors	ENST00000361475	ensembl	human	known	74_37	silent	42.31		SNP	0.998	A	33	44
ATXN7L2	127002	genome.wustl.edu	37	1	110032568	110032568	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110032568G>A	ENST00000369870.3	+	8	1069	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	352										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCTCCTCCGAGAGTGAATT	0.627													ENSG00000162650																																					0													86.0	95.0	92.0					1																	110032568		2203	4300	6503	SO:0001583	missense	0			-	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1054G>A	1.37:g.110032568G>A	ENSP00000358886:p.Glu352Lys			Missense_Mutation	SNP	pfam_SCA7_dom	p.E352K	ENST00000369870.3	37	c.1054	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156513	0.57259	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.33216	1.42	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000004	T	0.19446	0.0467	L	0.55481	1.735	0.80722	D	1	P	0.52842	0.956	B	0.38296	0.27	T	0.02966	-1.1088	10	0.44086	T	0.13	-19.6781	17.0446	0.86499	0.0:0.0:1.0:0.0	.	352	Q5T6C5	AT7L2_HUMAN	K	352	ENSP00000358886:E352K	ENSP00000358886:E352K	E	+	1	0	ATXN7L2	109834091	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.914000	0.69964	2.768000	0.95171	0.561000	0.74099	GAG	-	ATXN7L2	-	NULL		0.627	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	0	0		41	41		0.00		G	NM_153340		110032568	+1	32		27		tier1	no_errors	ENST00000369870	ensembl	human	known	74_37	missense	54.24		SNP	1.000	A	32	27
ATP8B2	57198	genome.wustl.edu	37	1	154315646	154315646	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154315646G>A	ENST00000368489.3	+	16	1610	c.1610G>A	c.(1609-1611)aGg>aAg	p.R537K		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	523					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCGCAGCCAGGAACTTTGGT	0.557													ENSG00000143515																																					0													76.0	61.0	66.0					1																	154315646		2203	4300	6503	SO:0001583	missense	0			-	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1610G>A	1.37:g.154315646G>A	ENSP00000357475:p.Arg537Lys		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	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.R537K	ENST00000368489.3	37	c.1610	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.760256	0.96898	.	.	ENSG00000143515	ENST00000368489	T	0.62498	0.02	5.58	5.58	0.84498	.	0.053176	0.85682	N	0.000000	T	0.55321	0.1913	L	0.59912	1.85	0.80722	D	1	P	0.38335	0.627	B	0.42882	0.401	T	0.51988	-0.8635	10	0.27785	T	0.31	.	18.7458	0.91792	0.0:0.0:1.0:0.0	.	537	P98198-3	.	K	537	ENSP00000357475:R537K	ENSP00000357475:R537K	R	+	2	0	ATP8B2	152582270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	AGG	-	ATP8B2	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp		0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	0	0		15	15		0.00		G	NM_020452		154315646	+1	9		17		tier1	no_errors	ENST00000368489	ensembl	human	known	74_37	missense	34.62		SNP	1.000	A	9	17
TFAP2D	83741	genome.wustl.edu	37	6	50718997	50718997	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:50718997A>C	ENST00000008391.3	+	7	1327	c.1099A>C	c.(1099-1101)Att>Ctt	p.I367L		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.I367V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACCCACTCCAATTCTAGACCT	0.368													ENSG00000008197																																					1	Substitution - Missense(1)	lung(1)											105.0	96.0	99.0					6																	50718997		2203	4299	6502	SO:0001583	missense	0			-	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1099A>C	6.37:g.50718997A>C	ENSP00000008391:p.Ile367Leu			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.I367L	ENST00000008391.3	37	c.1099	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589385	0.66105	.	.	ENSG00000008197	ENST00000008391	D	0.96554	-4.05	5.48	5.48	0.80851	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	L	0.41824	1.3	0.58432	D	0.999999	B	0.28400	0.21	B	0.33960	0.173	D	0.91151	0.4953	10	0.44086	T	0.13	-0.2816	15.5691	0.76320	1.0:0.0:0.0:0.0	.	367	Q7Z6R9	AP2D_HUMAN	L	367	ENSP00000008391:I367L	ENSP00000008391:I367L	I	+	1	0	TFAP2D	50826956	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.576000	0.82467	2.081000	0.62600	0.397000	0.26171	ATT	-	TFAP2D	-	pfam_TF_AP2_C		0.368	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	0	0		101	101		0.00		A	NM_172238		50718997	+1	12		74		tier1	no_errors	ENST00000008391	ensembl	human	known	74_37	missense	13.95		SNP	1.000	C	12	74
TNC	3371	genome.wustl.edu	37	9	117852886	117852886	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:117852886C>T	ENST00000350763.4	-	2	823	c.412G>A	c.(412-414)Gag>Aag	p.E138K	TNC_ENST00000345230.3_Missense_Mutation_p.E138K|TNC_ENST00000542877.1_Missense_Mutation_p.E138K|TNC_ENST00000423613.2_Missense_Mutation_p.E138K|TNC_ENST00000535648.1_Missense_Mutation_p.E138K|TNC_ENST00000537320.1_Missense_Mutation_p.E138K|TNC_ENST00000340094.3_Missense_Mutation_p.E138K|TNC_ENST00000346706.3_Missense_Mutation_p.E138K|TNC_ENST00000341037.4_Missense_Mutation_p.E138K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	138					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTACATTGCTCCCTCAGGGAA	0.607													ENSG00000041982																																					0													95.0	104.0	101.0					9																	117852886		2203	4300	6503	SO:0001583	missense	0			-		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.412G>A	9.37:g.117852886C>T	ENSP00000265131:p.Glu138Lys		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E138K	ENST00000350763.4	37	c.412	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274415	0.80580	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.94	5.94	0.96194	.	0.092886	0.64402	D	0.000001	T	0.60702	0.2289	M	0.71036	2.16	0.58432	D	0.999997	D;D	0.63880	0.993;0.973	D;P	0.64506	0.926;0.87	T	0.61367	-0.7077	10	0.87932	D	0	.	19.3401	0.94337	0.0:1.0:0.0:0.0	.	138;138	E9PC84;P24821	.;TENA_HUMAN	K	138	ENSP00000344400:E138K;ENSP00000438152:E138K;ENSP00000344555:E138K;ENSP00000345861:E138K;ENSP00000265131:E138K;ENSP00000339553:E138K;ENSP00000411406:E138K;ENSP00000443478:E138K;ENSP00000442242:E138K	ENSP00000344400:E138K	E	-	1	0	TNC	116892707	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	4.741000	0.62095	2.803000	0.96430	0.655000	0.94253	GAG	-	TNC	-	NULL		0.607	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	0	0		18	18		0.00		C	NM_002160		117852886	-1	8		32		tier1	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	20.00		SNP	1.000	T	8	32
CASZ1	54897	genome.wustl.edu	37	1	10719870	10719870	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:10719870G>A	ENST00000377022.3	-	6	1546	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.P410L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	410	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCTGGCCCGGGGGCGCTGGG	0.692													ENSG00000130940																																					0													37.0	40.0	39.0					1																	10719870		2203	4300	6503	SO:0001583	missense	0			-	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1229C>T	1.37:g.10719870G>A	ENSP00000366221:p.Pro410Leu		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P410L	ENST00000377022.3	37	c.1229	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	g	14.13	2.444588	0.43429	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.63	4.63	0.57726	.	0.054459	0.85682	D	0.000000	T	0.59865	0.2225	N	0.08118	0	0.43457	D	0.995657	D;D;D;B	0.89917	1.0;1.0;1.0;0.01	D;D;D;B	0.91635	0.999;0.999;0.999;0.006	T	0.71119	-0.4685	9	0.87932	D	0	-7.2313	17.8779	0.88830	0.0:0.0:1.0:0.0	.	434;410;410;410	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	L	410	.	ENSP00000339445:P410L	P	-	2	0	CASZ1	10642457	1.000000	0.71417	0.505000	0.27651	0.059000	0.15707	5.986000	0.70563	2.310000	0.77875	0.486000	0.48141	CCC	-	CASZ1	-	NULL		0.692	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	0	0		30	30		0.00		G	NM_017766		10719870	-1	6		48		tier1	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	11.11		SNP	0.796	A	6	48
PTGFRN	5738	genome.wustl.edu	37	1	117484465	117484465	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:117484465T>C	ENST00000393203.2	+	2	325	c.178T>C	c.(178-180)Ttc>Ctc	p.F60L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	60	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGACTGGAGCTTCTCATCTTT	0.607													ENSG00000134247																																					0													59.0	55.0	56.0					1																	117484465		2203	4300	6503	SO:0001583	missense	0			-	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.178T>C	1.37:g.117484465T>C	ENSP00000376899:p.Phe60Leu		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.F60L	ENST00000393203.2	37	c.178	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408028	0.62399	.	.	ENSG00000134247	ENST00000393203	T	0.64438	-0.1	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208408	0.45606	D	0.000350	T	0.38054	0.1026	L	0.27053	0.805	0.43617	D	0.995991	P	0.45531	0.86	P	0.49799	0.622	T	0.46512	-0.9186	10	0.02654	T	1	-38.342	13.7821	0.63089	0.0:0.0:0.0:1.0	.	60	Q9P2B2	FPRP_HUMAN	L	60	ENSP00000376899:F60L	ENSP00000376899:F60L	F	+	1	0	PTGFRN	117285988	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.399000	0.44495	2.206000	0.71126	0.383000	0.25322	TTC	-	PTGFRN	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.607	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	0	0		41	41		0.00		T	NM_020440		117484465	+1	18		30		tier1	no_errors	ENST00000393203	ensembl	human	known	74_37	missense	36.73		SNP	1.000	C	18	30
XXbac-BPG308J9.3	0	genome.wustl.edu	37	6	29231725	29231725	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:29231725G>A	ENST00000441381.1	+	0	196																		p.I44I(1)									ATGGCAGCAGGATAAGGACCA	0.423													ENSG00000232505																																					1	Substitution - coding silent(1)	lung(1)											99.0	95.0	96.0					6																	29231725		1823	4082	5905			0			-																													6.37:g.29231725G>A				R	SNP	-	NULL	ENST00000441381.1	37	NULL		6																																																																																			-	XXbac-BPG308J9.3	-	-		0.423	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	LOC101929006	Clone_based_vega_gene	lincRNA	OTTHUMT00000192829.1	0	0		48	48		0.00		G			29231725	+1	14		56		tier1	no_errors	ENST00000441381	ensembl	human	known	74_37	rna	20.00		SNP	0.423	A	14	56
ANKHD1	54882	genome.wustl.edu	37	5	139905961	139905961	+	Missense_Mutation	SNP	T	T	A	rs200665904		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:139905961T>A	ENST00000360839.2	+	26	5027	c.4873T>A	c.(4873-4875)Tac>Aac	p.Y1625N	SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Y1625N|ANKHD1_ENST00000544120.1_Missense_Mutation_p.Y8N|ANKHD1_ENST00000297183.6_Missense_Mutation_p.Y1625N	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1625						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTCTAAATACCCCTCACT	0.403													ENSG00000131503																																					0													120.0	127.0	125.0					5																	139905961		2203	4300	6503	SO:0001583	missense	0			-	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4873T>A	5.37:g.139905961T>A	ENSP00000354085:p.Tyr1625Asn		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Y1625N	ENST00000360839.2	37	c.4873	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.47|15.47	2.844094|2.844094	0.51164|0.51164	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	.|T;T;T;T;T;T	.|0.30182	.|2.0;2.0;2.0;2.0;1.54;2.0	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.488345	.|0.22175	.|N	.|0.063599	T|T	0.25606|0.25606	0.0623|0.0623	L|L	0.40543|0.40543	1.245|1.245	0.40698|0.40698	D|D	0.982458|0.982458	.|B;B;B;B;B;B	.|0.33000	.|0.393;0.112;0.079;0.018;0.01;0.01	.|B;B;B;B;B;B	.|0.25884	.|0.063;0.047;0.064;0.031;0.014;0.014	T|T	0.06180|0.06180	-1.0841|-1.0841	5|10	.|0.41790	.|T	.|0.15	.|.	15.082|15.082	0.72122|0.72122	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|8;55;1625;1625;1625;1625	.|Q8IWG5;Q9H059;E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	K|N	115;75|1625;1625;1625;281;60;147;8;1625	.|ENSP00000354085:Y1625N;ENSP00000297183:Y1625N;ENSP00000393204:Y281N;ENSP00000390034:Y147N;ENSP00000437687:Y8N;ENSP00000432016:Y1625N	.|ENSP00000432016:Y1625N	I|Y	+|+	2|1	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139886145|139886145	1.000000|1.000000	0.71417|0.71417	0.351000|0.351000	0.25721|0.25721	0.729000|0.729000	0.41735|0.41735	4.566000|4.566000	0.60843|0.60843	1.971000|1.971000	0.57363|0.57363	0.455000|0.455000	0.32223|0.32223	ATA|TAC	-	ANKHD1	-	NULL		0.403	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	0	0		74	74		0.00		T	NM_017747		139905961	+1	23		72		tier1	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	24.21		SNP	0.996	A	23	72
NUP85	79902	genome.wustl.edu	37	17	73221887	73221887	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73221887C>T	ENST00000245544.4	+	10	1021	c.950C>T	c.(949-951)cCc>cTc	p.P317L	NUP85_ENST00000579298.1_Missense_Mutation_p.P272L|NUP85_ENST00000447371.2_Missense_Mutation_p.P149L|NUP85_ENST00000541827.1_Missense_Mutation_p.P271L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000540768.1_5'Flank|NUP85_ENST00000579324.1_Missense_Mutation_p.P205L	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	317					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TACTCCAATCCCACAGTAAAA	0.532													ENSG00000125450																																					0													127.0	122.0	124.0					17																	73221887		2203	4300	6503	SO:0001583	missense	0			-	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.950C>T	17.37:g.73221887C>T	ENSP00000245544:p.Pro317Leu		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup85	p.P317L	ENST00000245544.4	37	c.950	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832528	0.50845	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	5.79	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84270	0.0488	9	0.72032	D	0.01	-29.0818	14.6125	0.68526	0.0:0.9303:0.0:0.0697	.	271;317	B4DMQ3;Q9BW27	.;NUP85_HUMAN	L	317;271;271;149	.	ENSP00000245544:P317L	P	+	2	0	NUP85	70733482	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.277000	0.78572	1.466000	0.48025	0.650000	0.86243	CCC	-	NUP85	-	pfam_Nucleoporin_Nup85		0.532	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	0	0		62	62		0.00		C	NM_024844		73221887	+1	24		59		tier1	no_errors	ENST00000245544	ensembl	human	known	74_37	missense	28.92		SNP	1.000	T	24	59
WDR64	128025	genome.wustl.edu	37	1	241938503	241938503	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:241938503G>A	ENST00000366552.2	+	20	2704	c.2497G>A	c.(2497-2499)Gga>Aga	p.G833R	WDR64_ENST00000437684.2_Intron	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	833										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTACTGGCTGGAAATGTGGG	0.378													ENSG00000162843																																					0													139.0	108.0	117.0					1																	241938503		692	1591	2283	SO:0001583	missense	0			-	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2497G>A	1.37:g.241938503G>A	ENSP00000355510:p.Gly833Arg		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G833R	ENST00000366552.2	37	c.2497		1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.955053	0.73902	.	.	ENSG00000162843	ENST00000366552	T	0.62364	0.03	5.8	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.416612	0.23405	N	0.048538	T	0.70116	0.3187	M	0.74881	2.28	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.71567	-0.4554	10	0.87932	D	0	-10.2	8.7996	0.34901	0.1718:0.0:0.8282:0.0	.	833	B1ANS9	WDR64_HUMAN	R	833	ENSP00000355510:G833R	ENSP00000355510:G833R	G	+	1	0	WDR64	240005126	0.992000	0.36948	0.993000	0.49108	0.979000	0.70002	2.541000	0.45735	0.805000	0.34159	0.563000	0.77884	GGA	-	WDR64	-	superfamily_WD40_repeat_dom		0.378	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		0	0		90	90		0.00		G	NM_144625		241938503	+1	39		85		tier1	no_errors	ENST00000366552	ensembl	human	known	74_37	missense	30.95		SNP	0.999	A	39	85
ANGPTL2	23452	genome.wustl.edu	37	9	129870370	129870370	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:129870370G>A	ENST00000373425.3	-	2	1258	c.641C>T	c.(640-642)cCc>cTc	p.P214L	RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	214					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGGTGGCTGGGGGACGGGCCT	0.632													ENSG00000136859																																					0													24.0	24.0	24.0					9																	129870370		2203	4299	6502	SO:0001583	missense	0			-	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.641C>T	9.37:g.129870370G>A	ENSP00000362524:p.Pro214Leu		Q5JT58|Q8NCH7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.P214L	ENST00000373425.3	37	c.641	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570888	0.13623	.	.	ENSG00000136859	ENST00000373425	T	0.38560	1.13	4.93	4.93	0.64822	.	0.444819	0.25119	N	0.032987	T	0.26846	0.0657	N	0.19112	0.55	0.80722	D	1	B	0.30937	0.301	B	0.26770	0.073	T	0.07481	-1.0770	10	0.26408	T	0.33	.	12.9024	0.58133	0.0789:0.0:0.9211:0.0	.	214	Q9UKU9	ANGL2_HUMAN	L	214	ENSP00000362524:P214L	ENSP00000362524:P214L	P	-	2	0	ANGPTL2	128910191	1.000000	0.71417	0.996000	0.52242	0.139000	0.21198	6.255000	0.72466	2.447000	0.82792	0.655000	0.94253	CCC	-	ANGPTL2	-	NULL		0.632	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	0	0		10	10		0.00		G	NM_012098		129870370	-1	11		17		tier1	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	39.29		SNP	0.996	A	11	17
USP27X	389856	genome.wustl.edu	37	X	49642959	49642959	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:49642959C>T	ENST00000508866.2	+	0	0				USP27X-AS1_ENST00000437322.2_lincRNA	NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(7)	7						TGCCCCCCTCCCCCGGGATGC	0.627													ENSG00000234390																																					0																																										SO:0001631	upstream_gene_variant	0			-	AW851065	CCDS65260.1	Xp11.23	2007-10-05	2005-08-08			ENSG00000273820		"""Ubiquitin-specific peptidases"""	13486	protein-coding gene	gene with protein product			"""ubiquitin specific protease 27, X chromosome"", ""ubiquitin specific protease 27, X-linked"""			12838346	Standard	NM_001145073		Approved	USP27	uc004dop.3	A6NNY8			X.37:g.49642959C>T	Exception_encountered			R	SNP	-	NULL	ENST00000508866.2	37	NULL		X																																																																																			-	USP27X-AS1	-	-		0.627	USP27X-001	KNOWN	basic|appris_principal	protein_coding	USP27X-AS1	HGNC	protein_coding	OTTHUMT00000060837.3	0	0		38	38		0.00		C	XM_372213		49642959	-1	39		16		tier1	no_errors	ENST00000437322	ensembl	human	known	74_37	rna	70.91		SNP	0.001	T	39	16
CSMD1	64478	genome.wustl.edu	37	8	2857542	2857542	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:2857542C>T	ENST00000520002.1	-	54	8699	c.8144G>A	c.(8143-8145)gGa>gAa	p.G2715E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2714E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2656E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2657E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2715E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2657E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2715	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACGGAAGTTCCCACAAGCCG	0.517													ENSG00000183117																																					0													156.0	155.0	155.0					8																	2857542		1965	4152	6117	SO:0001583	missense	0			-			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8144G>A	8.37:g.2857542C>T	ENSP00000430733:p.Gly2715Glu		Q0H0J5|Q96QU9|Q96RM4	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.G2715E	ENST00000520002.1	37	c.8144		8	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847883	0.71603	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.77	5.77	0.91146	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.90665	0.7072	H	0.97707	4.06	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	0.93049	0.6464	10	0.87932	D	0	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	2715;2715;2656	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	E	2657;2715;2576;2714;2656	ENSP00000383047:G2657E;ENSP00000430733:G2715E;ENSP00000441462:G2714E;ENSP00000446243:G2656E	ENSP00000320445:G2576E	G	-	2	0	CSMD1	2844949	1.000000	0.71417	0.223000	0.23860	0.026000	0.11368	7.570000	0.82390	2.884000	0.98904	0.655000	0.94253	GGA	-	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	0	0		49	49		0.00		C	NM_033225		2857542	-1	13		44		tier1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	22.81		SNP	1.000	T	13	44
UBQLN3	50613	genome.wustl.edu	37	11	5529648	5529648	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5529648G>A	ENST00000311659.4	-	2	1288	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	381										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACGATGGGGGAACTCTGTTT	0.572													ENSG00000175520																									Ovarian(72;684 1260 12332 41642 52180)												0													148.0	154.0	152.0					11																	5529648		2201	4297	6498	SO:0001583	missense	0			-	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1141C>T	11.37:g.5529648G>A	ENSP00000347997:p.Pro381Ser		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.P381S	ENST00000311659.4	37	c.1141	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	G	2.883	-0.231379	0.05983	.	.	ENSG00000175520	ENST00000311659	T	0.35236	1.32	4.89	1.94	0.25998	.	0.488662	0.17388	N	0.176050	T	0.35885	0.0947	M	0.80028	2.48	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.40794	-0.9544	10	0.66056	D	0.02	-35.647	4.3163	0.10995	0.1895:0.0:0.6301:0.1804	.	381	Q9H347	UBQL3_HUMAN	S	381	ENSP00000347997:P381S	ENSP00000347997:P381S	P	-	1	0	UBQLN3	5486224	0.588000	0.26799	0.025000	0.17156	0.100000	0.18952	1.547000	0.36190	0.327000	0.23409	-0.136000	0.14681	CCC	-	UBQLN3	-	NULL		0.572	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	0	0		59	59		0.00		G	NM_017481		5529648	-1	26		63		tier1	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	28.89		SNP	0.033	A	26	63
LOXL2	4017	genome.wustl.edu	37	8	23155618	23155618	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:23155618C>T	ENST00000389131.3	-	14	2632	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	755					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTTTCCGTCTCTTCGCTGAAG	0.557													ENSG00000134013																																					0													68.0	65.0	66.0					8																	23155618		2203	4300	6503	SO:0001583	missense	0			-	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2263G>A	8.37:g.23155618C>T	ENSP00000373783:p.Glu755Lys		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.E755K	ENST00000389131.3	37	c.2263	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440389	0.63067	.	.	ENSG00000134013	ENST00000389131	T	0.01406	4.93	5.3	5.3	0.74995	.	0.142143	0.64402	D	0.000008	T	0.04634	0.0126	M	0.73962	2.25	0.58432	D	0.999999	P	0.45672	0.864	P	0.46543	0.52	T	0.19289	-1.0310	10	0.66056	D	0.02	.	16.4482	0.83959	0.0:1.0:0.0:0.0	.	755	Q9Y4K0	LOXL2_HUMAN	K	755	ENSP00000373783:E755K	ENSP00000373783:E755K	E	-	1	0	LOXL2	23211563	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	7.312000	0.78968	2.494000	0.84150	0.448000	0.29417	GAG	-	LOXL2	-	NULL		0.557	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	0	0		36	36		0.00		C			23155618	-1	20		38		tier1	no_errors	ENST00000389131	ensembl	human	known	74_37	missense	34.48		SNP	1.000	T	20	38
SEPHS2	22928	genome.wustl.edu	37	16	30456071	30456071	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30456071G>A	ENST00000478753.2	-	1	1431	c.978C>T	c.(976-978)tcC>tcT	p.S326S	SEPHS2_ENST00000500504.2_Silent_p.S326S|SEPHS2_ENST00000542752.1_Silent_p.S269S			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	326					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CAAGGTTCTGGGAGTGTCCTA	0.458													ENSG00000179918																									Esophageal Squamous(81;1142 1261 11202 24614 35697)												0													92.0	85.0	87.0					16																	30456071		1916	4134	6050	SO:0001819	synonymous_variant	0			-	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.978C>T	16.37:g.30456071G>A			Q9BUQ2	Silent	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.S269	ENST00000478753.2	37	c.807		16																																																																																			-	SEPHS2	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD		0.458	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	0	0		42	42		0.00		G	NM_012248		30456071	-1	14		48		tier1	no_errors	ENST00000542752	ensembl	human	known	74_37	silent	22.58		SNP	0.786	A	14	48
BSN	8927	genome.wustl.edu	37	3	49699682	49699682	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49699682G>A	ENST00000296452.4	+	6	10518	c.10404G>A	c.(10402-10404)agG>agA	p.R3468R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3468					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGTACGAAAGGGAACGGGAGG	0.637													ENSG00000164061																																					0													46.0	52.0	50.0					3																	49699682		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10404G>A	3.37:g.49699682G>A			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R3468	ENST00000296452.4	37	c.10404	CCDS2800.1	3																																																																																			-	BSN	-	NULL		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	0	0		122	122		0.00		G	NM_003458		49699682	+1	61		136		tier1	no_errors	ENST00000296452	ensembl	human	known	74_37	silent	30.96		SNP	0.994	A	61	136
GPC5	2262	genome.wustl.edu	37	13	92797165	92797165	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:92797165G>A	ENST00000377067.3	+	7	1856	c.1484G>A	c.(1483-1485)aGt>aAt	p.S495N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	495					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GAACAAGTCAGTGGGGACTGT	0.463													ENSG00000179399																																					0													185.0	158.0	167.0					13																	92797165		2203	4300	6503	SO:0001583	missense	0			-	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1484G>A	13.37:g.92797165G>A	ENSP00000366267:p.Ser495Asn		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.S495N	ENST00000377067.3	37	c.1484	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532432	0.85812	.	.	ENSG00000179399	ENST00000377067	T	0.50277	0.75	5.83	5.83	0.93111	.	0.109437	0.64402	D	0.000002	T	0.67411	0.2890	M	0.62016	1.91	0.43559	D	0.995874	D	0.76494	0.999	D	0.83275	0.996	T	0.67841	-0.5566	10	0.66056	D	0.02	0.1643	17.2722	0.87105	0.0:0.0:1.0:0.0	.	495	P78333	GPC5_HUMAN	N	495	ENSP00000366267:S495N	ENSP00000366267:S495N	S	+	2	0	GPC5	91595166	1.000000	0.71417	0.995000	0.50966	0.831000	0.47069	6.945000	0.75947	2.757000	0.94681	0.563000	0.77884	AGT	-	GPC5	-	pfam_Glypican		0.463	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	0	0		93	93		0.00		G	NM_004466		92797165	+1	16		65		tier1	no_errors	ENST00000377067	ensembl	human	known	74_37	missense	19.75		SNP	1.000	A	16	65
MROH2A	339766	genome.wustl.edu	37	2	234731131	234731131	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:234731131C>T	ENST00000389758.3	+	33	3961	c.3795C>T	c.(3793-3795)gcC>gcT	p.A1265A				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	1295																	GACCAGAGGCCGCCCCGCCGG	0.602													ENSG00000185038																																					0																																										SO:0001819	synonymous_variant	0			-		CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.3795C>T	2.37:g.234731131C>T				Silent	SNP	superfamily_ARM-type_fold	p.A1265	ENST00000389758.3	37	c.3795		2																																																																																			-	MROH2A	-	superfamily_ARM-type_fold		0.602	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	MROH2A	HGNC	protein_coding	OTTHUMT00000130646.6	0	0		50	50		0.00		C	XM_291007		234731131	+1	19		36		tier1	no_errors	ENST00000389758	ensembl	human	novel	74_37	silent	33.93		SNP	0.000	T	19	36
DYNLRB2	83657	genome.wustl.edu	37	16	80583535	80583535	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:80583535C>T	ENST00000305904.6	+	3	354	c.234C>T	c.(232-234)atC>atT	p.I78I	DYNLRB2_ENST00000570222.1_3'UTR|DYNLRB2_ENST00000568035.1_Intron|DYNLRB2_ENST00000562982.1_Silent_p.I107I|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	78					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			large_intestine(1)|lung(4)|prostate(1)	6						AACATGAAATCATGGTAGCTC	0.353													ENSG00000168589																																					0													104.0	104.0	104.0					16																	80583535		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF125108	CCDS10929.1	16q23.3	2008-02-05	2005-11-25	2005-11-25	ENSG00000168589	ENSG00000168589		"""Cytoplasmic dyneins"""	15467	protein-coding gene	gene with protein product	"""roadblock domain containing 2"""	607168	"""dynein, cytoplasmic, light polypeptide 2B"""	DNCL2B		11750132, 16260502	Standard	NM_130897		Approved	DNLC2B, ROBLD2	uc002ffo.3	Q8TF09	OTTHUMG00000137622	ENST00000305904.6:c.234C>T	16.37:g.80583535C>T				Silent	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type	p.I78	ENST00000305904.6	37	c.234	CCDS10929.1	16																																																																																			-	DYNLRB2	-	pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type		0.353	DYNLRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB2	HGNC	protein_coding	OTTHUMT00000269043.1	0	0		60	60		0.00		C	NM_130897		80583535	+1	12		47		tier1	no_errors	ENST00000305904	ensembl	human	known	74_37	silent	20.34		SNP	1.000	T	12	47
HDAC1	3065	genome.wustl.edu	37	1	32792741	32792741	+	Intron	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:32792741C>A	ENST00000373548.3	+	5	578				HDAC1_ENST00000373541.2_Intron	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TTTCCCTCTTCCCCTGGGCTT	0.537													ENSG00000116478																																					0																																										SO:0001627	intron_variant	0			-	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.494+63C>A	1.37:g.32792741C>A			Q92534	R	SNP	-	NULL	ENST00000373548.3	37	NULL	CCDS360.1	1																																																																																			-	HDAC1	-	-		0.537	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3	0	0		46	46		0.00		C	NM_004964		32792741	+1	17		48		tier1	no_errors	ENST00000463172	ensembl	human	known	74_37	rna	26.15		SNP	0.130	A	17	48
GPR156	165829	genome.wustl.edu	37	3	119886958	119886958	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:119886958G>A	ENST00000464295.1	-	10	1811	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	GPR156_ENST00000315843.3_Missense_Mutation_p.L456F|GPR156_ENST00000461057.1_Missense_Mutation_p.L452F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	456						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGCCCCTCAAGGCTTTGTGCA	0.537													ENSG00000175697																																					0													39.0	41.0	40.0					3																	119886958		2203	4300	6503	SO:0001583	missense	0			-	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1366C>T	3.37:g.119886958G>A	ENSP00000417261:p.Leu456Phe		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.L456F	ENST00000464295.1	37	c.1366	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031829	0.35797	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.26373	1.74;1.74;1.74	5.54	3.76	0.43208	.	0.611706	0.16384	N	0.216746	T	0.18257	0.0438	L	0.40543	1.245	0.28627	N	0.907864	B;B	0.21905	0.062;0.062	B;B	0.18871	0.023;0.023	T	0.16453	-1.0402	9	.	.	.	0.0313	5.9594	0.19291	0.0722:0.1356:0.6517:0.1405	.	452;456	E9PFZ4;Q8NFN8	.;GP156_HUMAN	F	456;456;452	ENSP00000417261:L456F;ENSP00000324553:L456F;ENSP00000418758:L452F	.	L	-	1	0	GPR156	121369648	0.741000	0.28217	0.138000	0.22173	0.015000	0.08874	1.239000	0.32719	0.897000	0.36392	0.655000	0.94253	CTT	-	GPR156	-	NULL		0.537	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	0	0		85	85		0.00		G	NM_153002		119886958	-1	18		81		tier1	no_errors	ENST00000315843	ensembl	human	known	74_37	missense	18.18		SNP	0.752	A	18	81
GVINP1	387751	genome.wustl.edu	37	11	6742292	6742292	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6742292G>A	ENST00000526769.3	-	0	912					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GGGTTTCCTTGGATTCTGGAT	0.463													ENSG00000254838																																					0																																												0			-	BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6742292G>A			A6NFL2|Q9H8N5	R	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			-	GVINP1	-	-		0.463	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	0	0		39	39		0.00		G	NR_003945		6742292	-1	15		33		tier1	no_errors	ENST00000526769	ensembl	human	known	74_37	rna	31.25		SNP	0.008	A	15	33
MARK2	2011	genome.wustl.edu	37	11	63667576	63667576	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63667576C>T	ENST00000509502.2	+	8	1126	c.663C>T	c.(661-663)aaC>aaT	p.N221N	MARK2_ENST00000361128.5_Silent_p.N254N|MARK2_ENST00000377809.4_Silent_p.N254N|MARK2_ENST00000508192.1_Silent_p.N254N|MARK2_ENST00000315032.8_Silent_p.N254N|MARK2_ENST00000408948.3_Silent_p.N221N|MARK2_ENST00000402010.2_Silent_p.N254N|MARK2_ENST00000413835.2_Silent_p.N254N|MARK2_ENST00000502399.3_Silent_p.N254N|MARK2_ENST00000425897.2_Silent_p.N221N|MARK2_ENST00000377810.3_Silent_p.N221N|MARK2_ENST00000350490.7_Silent_p.N254N|MARK2_ENST00000513765.2_Silent_p.N221N	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGGACAGAACCTCAAGGTGG	0.502													ENSG00000072518																																					0													157.0	169.0	165.0					11																	63667576		2201	4297	6498	SO:0001819	synonymous_variant	0			-	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.663C>T	11.37:g.63667576C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N254	ENST00000509502.2	37	c.762	CCDS41665.1	11																																																																																			-	MARK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.502	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	0	0		68	68		0.00		C	NM_017490		63667576	+1	34		61		tier1	no_errors	ENST00000402010	ensembl	human	known	74_37	silent	35.79		SNP	1.000	T	34	61
CNTNAP3	79937	genome.wustl.edu	37	9	39118222	39118222	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:39118222G>A	ENST00000297668.6	-	14	2188	c.2115C>T	c.(2113-2115)acC>acT	p.T705T	CNTNAP3_ENST00000377656.2_Silent_p.T704T|CNTNAP3_ENST00000323947.7_Silent_p.T611T|CNTNAP3_ENST00000377659.1_Silent_p.T704T|CNTNAP3_ENST00000358144.2_Silent_p.T617T	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	705	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGTTTCATTGGTTCTTCCAA	0.458													ENSG00000106714																																					0													57.0	47.0	50.0					9																	39118222		2195	4260	6455	SO:0001819	synonymous_variant	0			-	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2115C>T	9.37:g.39118222G>A			B1AMA0|Q9C0E9	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_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,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T705	ENST00000297668.6	37	c.2115	CCDS6616.1	9																																																																																			-	CNTP3	-	NULL		0.458	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTP3	HGNC	protein_coding	OTTHUMT00000052511.1	0	0		121	121		0.00		G	NM_033655		39118222	-1	50		53		tier1	no_errors	ENST00000297668	ensembl	human	known	74_37	silent	48.54		SNP	1.000	A	50	53
XYLT1	64131	genome.wustl.edu	37	16	17211525	17211525	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:17211525C>T	ENST00000261381.6	-	11	2619	c.2535G>A	c.(2533-2535)tcG>tcA	p.S845S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	845					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGCCTGTTCGAGAAGGTCA	0.547													ENSG00000103489																																					0													59.0	55.0	56.0					16																	17211525		2197	4300	6497	SO:0001819	synonymous_variant	0			-	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2535G>A	16.37:g.17211525C>T			Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.S845	ENST00000261381.6	37	c.2535	CCDS10569.1	16																																																																																			-	XYLT1	-	NULL		0.547	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	0	0		59	59		0.00		C	NM_022166		17211525	-1	17		57		tier1	no_errors	ENST00000261381	ensembl	human	known	74_37	silent	22.97		SNP	0.773	T	17	57
ARF3	377	genome.wustl.edu	37	12	49332417	49332417	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:49332417G>A	ENST00000256682.4	-	0	1193				RP11-302B13.5_ENST00000398092.4_Intron|ARF3_ENST00000541967.1_5'Flank|AC073610.5_ENST00000537495.1_Intron|ARF3_ENST00000447318.2_3'UTR	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3						GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						CAAACAAAGAGAATACCCCAC	0.502													ENSG00000134287																									Pancreas(189;1862 2134 4419 30933 49364)												0																																										SO:0001624	3_prime_UTR_variant	0			-	M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"""ADP-ribosylation factors"""	654	protein-coding gene	gene with protein product	"""small GTP binding protein"""	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.*313C>T	12.37:g.49332417G>A			A8K6G8|B7ZB63|P16587	R	SNP	-	NULL	ENST00000256682.4	37	NULL	CCDS8774.1	12	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000239	0.35320	.	.	ENSG00000224453	ENST00000456304	.	.	.	4.18	3.26	0.37387	.	.	.	.	.	T	0.65154	0.2664	.	.	.	0.46336	D	0.998992	.	.	.	.	.	.	T	0.67213	-0.5727	5	0.87932	D	0	.	9.3463	0.38111	0.0:0.0:0.7865:0.2135	.	.	.	.	F	20	.	ENSP00000400644:L20F	L	-	1	0	AC073610.1	47618684	0.852000	0.29690	0.471000	0.27229	0.797000	0.45037	0.789000	0.26886	1.089000	0.41292	0.655000	0.94253	CTC	-	ARF3	-	-		0.502	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF3	HGNC	protein_coding	OTTHUMT00000258242.2	0	0		50	50		0.00		G	NM_001659		49332417	-1	17		56		tier1	no_errors	ENST00000485410	ensembl	human	known	74_37	rna	23.29		SNP	0.669	A	17	56
CEACAM18	729767	genome.wustl.edu	37	19	51986563	51986563	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51986563C>T	ENST00000396477.4	+	4	974				CEACAM18_ENST00000451626.1_Silent_p.S383S	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAGCAGCTCCCCTCCAGGCT	0.602													ENSG00000213822																																					0													49.0	51.0	50.0					19																	51986563		2135	4239	6374	SO:0001627	intron_variant	0			-			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.953+13C>T	19.37:g.51986563C>T			C9JN24	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S383	ENST00000396477.4	37	c.1149		19																																																																																			-	CEACAM18	-	NULL		0.602	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	0	0		35	35		0.00		C			51986563	+1	22		37		tier1	no_errors	ENST00000451626	ensembl	human	known	74_37	silent	37.29		SNP	0.006	T	22	37
MCM3AP	8888	genome.wustl.edu	37	21	47669514	47669514	+	Intron	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47669514T>G	ENST00000397708.1	-	21	4545				MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_Intron|MCM3AP_ENST00000291688.1_Intron|MCM3AP-AS1_ENST00000590829.1_RNA|AP001469.9_ENST00000430259.1_RNA|AP001469.7_ENST00000444966.1_RNA|AP001469.9_ENST00000447037.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGGTATTTTGTTAATAAAATC	0.328													ENSG00000215424																																					0																																										SO:0001627	intron_variant	0			-	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4290+1928A>C	21.37:g.47669514T>G			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	R	SNP	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																			-	MCM3AP-AS1	-	-		0.328	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	HGNC	protein_coding	OTTHUMT00000207254.1	0	0		37	37		0.00		T	NM_003906		47669514	+1	15		40		tier1	no_errors	ENST00000414659	ensembl	human	known	74_37	rna	27.27		SNP	0.000	G	15	40
MROH7	374977	genome.wustl.edu	37	1	55118895	55118895	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55118895C>T	ENST00000421030.2	+	3	581	c.296C>T	c.(295-297)tCt>tTt	p.S99F	MROH7_ENST00000339553.5_Missense_Mutation_p.S99F|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.S99F|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.S99F	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	99						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ATCACCAGTTCTTGTTCTGGT	0.587													ENSG00000271723																																					0													89.0	88.0	88.0					1																	55118895		1971	4151	6122	SO:0001583	missense	0			-	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.296C>T	1.37:g.55118895C>T	ENSP00000396622:p.Ser99Phe		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S99F	ENST00000421030.2	37	c.296	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843831	0.32606	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02656	4.73;4.21;4.22	3.17	1.18	0.20946	.	2.134560	0.02733	N	0.115385	T	0.02380	0.0073	N	0.19112	0.55	0.09310	N	1	B;P;B	0.39624	0.002;0.681;0.025	B;B;B	0.33121	0.005;0.158;0.007	T	0.37291	-0.9712	10	0.87932	D	0	.	4.3725	0.11255	0.0:0.6311:0.2351:0.1338	.	99;99;99	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	F	99	ENSP00000396622:S99F;ENSP00000343211:S99F;ENSP00000379044:S99F	ENSP00000343211:S99F	S	+	2	0	HEATR8	54891483	0.003000	0.15002	0.000000	0.03702	0.061000	0.15899	2.026000	0.41069	0.338000	0.23692	0.556000	0.70494	TCT	-	MROH7-TTC4	-	NULL		0.587	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1	0	0		28	28		0.00		C	NM_198547		55118895	+1	11		38		tier1	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	22.45		SNP	0.000	T	11	38
ZAP70	7535	genome.wustl.edu	37	2	98351000	98351000	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:98351000G>A	ENST00000264972.5	+	9	1122	c.907G>A	c.(907-909)Gac>Aac	p.D303N	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_5'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.D177N	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	303	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACGTCCCCAGACAAACCGCG	0.627													ENSG00000115085																																					0													78.0	69.0	72.0					2																	98351000		2203	4300	6503	SO:0001583	missense	0			-	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.907G>A	2.37:g.98351000G>A	ENSP00000264972:p.Asp303Asn		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D303N	ENST00000264972.5	37	c.907	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180508	0.38511	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	T;T	0.72282	-0.64;-0.64	5.01	5.01	0.66863	.	0.882685	0.09610	N	0.778961	T	0.62405	0.2425	L	0.29908	0.895	0.09310	N	1	B;B	0.17667	0.023;0.004	B;B	0.17433	0.018;0.005	T	0.43988	-0.9357	10	0.20519	T	0.43	.	16.6296	0.85030	0.0:0.0:1.0:0.0	.	177;303	P43403-3;P43403	.;ZAP70_HUMAN	N	303;177	ENSP00000264972:D303N;ENSP00000411141:D177N	ENSP00000264972:D303N	D	+	1	0	ZAP70	97717432	0.789000	0.28775	0.015000	0.15790	0.092000	0.18411	4.421000	0.59848	2.723000	0.93209	0.655000	0.94253	GAC	-	ZAP70	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	0	0		34	34		0.00		G			98351000	+1	24		39		tier1	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	38.10		SNP	0.055	A	24	39
FCHO2	115548	genome.wustl.edu	37	5	72370583	72370583	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:72370583C>T	ENST00000430046.2	+	20	1710	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	FCHO2_ENST00000512348.1_Missense_Mutation_p.P499S|FCHO2_ENST00000341845.6_Missense_Mutation_p.P532S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	532	Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTCACGGGGTCCCAGCCCTGT	0.403													ENSG00000157107																																					0													87.0	84.0	85.0					5																	72370583		1879	4107	5986	SO:0001583	missense	0			-	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1594C>T	5.37:g.72370583C>T	ENSP00000393776:p.Pro532Ser		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.P532S	ENST00000430046.2	37	c.1594	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937082	0.92458	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.39997	1.05;1.07;3.51	5.73	5.73	0.89815	.	0.176661	0.50627	D	0.000111	T	0.67683	0.2919	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.993	T	0.65685	-0.6108	10	0.41790	T	0.15	-10.0873	19.8989	0.96978	0.0:1.0:0.0:0.0	.	499;532	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	S	532;532;499	ENSP00000393776:P532S;ENSP00000344034:P532S;ENSP00000427296:P499S	ENSP00000344034:P532S	P	+	1	0	FCHO2	72406339	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.458000	0.80787	2.706000	0.92434	0.555000	0.69702	CCC	-	FCHO2	-	pfam_Muniscin_C-term_mu_dom		0.403	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	0	0		56	56		0.00		C	XM_291142		72370583	+1	15		45		tier1	no_errors	ENST00000341845	ensembl	human	known	74_37	missense	25.00		SNP	1.000	T	15	45
PI4KA	5297	genome.wustl.edu	37	22	21174081	21174081	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21174081G>A	ENST00000572273.1	-	6	693	c.463C>T	c.(463-465)Cct>Tct	p.P155S	PI4KA_ENST00000255882.6_Missense_Mutation_p.P213S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	155					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAATGAGGAGGGATTTTGGGA	0.507													ENSG00000241973																									GBM(136;1332 1831 3115 23601 50806)												0													187.0	166.0	173.0					22																	21174081		2203	4300	6503	SO:0001583	missense	0			-	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.463C>T	22.37:g.21174081G>A	ENSP00000458238:p.Pro155Ser		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P213S	ENST00000572273.1	37	c.637		22	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467169	0.26335	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.19	1.88	0.25563	.	0.523381	0.22498	N	0.059274	T	0.14917	0.0360	N	0.14661	0.345	0.28084	N	0.932083	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.17167	-1.0378	9	0.12103	T	0.63	-1.0367	2.3783	0.04347	0.2144:0.13:0.5214:0.1342	.	213;155	D3DX33;P42356	.;PI4KA_HUMAN	S	155	.	ENSP00000255882:P155S	P	-	1	0	PI4KA	19504081	0.964000	0.33143	0.491000	0.27477	0.824000	0.46624	1.514000	0.35834	0.328000	0.23435	-0.310000	0.09108	CCT	-	PI4KA	-	superfamily_ARM-type_fold		0.507	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		0	0		76	76		0.00		G	NM_058004		21174081	-1	20		51		tier1	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	28.17		SNP	0.461	A	20	51
SNX25	83891	genome.wustl.edu	37	4	186231899	186231899	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:186231899C>T	ENST00000504273.1	+	7	1075	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	SNX25_ENST00000264694.8_Silent_p.L261L|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	261					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AATCCGAATCCTGGGAGGCCC	0.517													ENSG00000109762																																					0													50.0	50.0	50.0					4																	186231899		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.781C>T	4.37:g.186231899C>T			Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.L261	ENST00000504273.1	37	c.781	CCDS34116.1	4																																																																																			-	SNX25	-	NULL		0.517	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	0	0		72	72		0.00		C	NM_031953		186231899	+1	21		110		tier1	no_errors	ENST00000264694	ensembl	human	known	74_37	silent	16.03		SNP	1.000	T	21	110
TNFRSF8	943	genome.wustl.edu	37	1	12186066	12186066	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:12186066C>T	ENST00000263932.2	+	11	1434	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Silent_p.F293F	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	404					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CCAGCGCCTTCCTCCTGTGCC	0.622													ENSG00000120949																																					0													179.0	157.0	164.0					1																	12186066		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1212C>T	1.37:g.12186066C>T			B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.F404	ENST00000263932.2	37	c.1212	CCDS144.1	1																																																																																			-	TNFRSF8	-	NULL		0.622	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	0	0		20	20		0.00		C			12186066	+1	8		25		tier1	no_errors	ENST00000263932	ensembl	human	known	74_37	silent	24.24		SNP	0.762	T	8	25
SRBD1	55133	genome.wustl.edu	37	2	45780862	45780862	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:45780862G>A	ENST00000263736.4	-	11	1479	c.1417C>T	c.(1417-1419)Cca>Tca	p.P473S	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	473					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAGCTACGTGGTCTCCACCTG	0.388													ENSG00000068784																																					0													54.0	58.0	56.0					2																	45780862		2203	4300	6503	SO:0001583	missense	0			-	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1417C>T	2.37:g.45780862G>A	ENSP00000263736:p.Pro473Ser		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_R-bd_dom,superfamily_-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_R-binding_domain_S1,pfscan_Rbsml_prot_S1_R-bd_dom	p.P473S	ENST00000263736.4	37	c.1417	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728112	0.48833	.	.	ENSG00000068784	ENST00000263736	T	0.40756	1.02	5.71	5.71	0.89125	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.33137	0.985	0.80722	D	1	B	0.32918	0.39	B	0.31290	0.127	T	0.07578	-1.0765	10	0.18276	T	0.48	.	19.8513	0.96741	0.0:0.0:1.0:0.0	.	473	Q8N5C6	SRBD1_HUMAN	S	473	ENSP00000263736:P473S	ENSP00000263736:P473S	P	-	1	0	SRBD1	45634366	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.003000	0.93577	2.694000	0.91930	0.585000	0.79938	CCA	-	SRBD1	-	NULL		0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	0	0		56	56		0.00		G	NM_018079		45780862	-1	16		72		tier1	no_errors	ENST00000263736	ensembl	human	known	74_37	missense	18.18		SNP	1.000	A	16	72
BPTF	2186	genome.wustl.edu	37	17	65962707	65962707	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:65962707C>T	ENST00000321892.4	+	28	8913	c.8852C>T	c.(8851-8853)cCt>cTt	p.P2951L	BPTF_ENST00000335221.5_Missense_Mutation_p.P2808L|BPTF_ENST00000424123.3_Missense_Mutation_p.P2669L|BPTF_ENST00000306378.6_Missense_Mutation_p.P2825L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2951	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			ATGGCCTGGCCTTTCCTTGAA	0.363													ENSG00000171634																																					0													112.0	105.0	107.0					17																	65962707		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.8852C>T	17.37:g.65962707C>T	ENSP00000315454:p.Pro2951Leu		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.P2951L	ENST00000321892.4	37	c.8852		17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967711	0.74131	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	T;T;T	0.21191	2.02;2.02;2.02	5.73	5.73	0.89815	.	.	.	.	.	T	0.51449	0.1675	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.988;0.982;1.0;1.0	T	0.52003	-0.8633	9	0.72032	D	0.01	-8.5706	19.903	0.96995	0.0:1.0:0.0:0.0	.	156;629;2825;2808	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	L	2825;2808;2951;156	ENSP00000307208:P2825L;ENSP00000334351:P2808L;ENSP00000315454:P2951L	ENSP00000307208:P2825L	P	+	2	0	BPTF	63393169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	2.716000	0.92895	0.555000	0.69702	CCT	-	BPTF	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain		0.363	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		0	0		46	46		0.00		C	NM_182641, NM_004459		65962707	+1	21		37		tier1	no_errors	ENST00000321892	ensembl	human	known	74_37	missense	36.21		SNP	1.000	T	21	37
IFT172	26160	genome.wustl.edu	37	2	27684264	27684264	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:27684264G>A	ENST00000260570.3	-	22	2417	c.2314C>T	c.(2314-2316)Ctc>Ttc	p.L772F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	772					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTGAGGTAGAGGCTGATGGCT	0.577													ENSG00000138002																																					0													102.0	97.0	99.0					2																	27684264		2203	4300	6503	SO:0001583	missense	0			-	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2314C>T	2.37:g.27684264G>A	ENSP00000260570:p.Leu772Phe		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.L772F	ENST00000260570.3	37	c.2314	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394870	0.62066	.	.	ENSG00000138002	ENST00000260570	T	0.66995	-0.24	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.057953	0.64402	D	0.000002	T	0.73885	0.3644	M	0.75884	2.315	0.80722	D	1	P	0.40398	0.716	P	0.48770	0.589	T	0.76041	-0.3104	10	0.56958	D	0.05	-9.441	12.2912	0.54819	0.0828:0.0:0.9172:0.0	.	772	Q9UG01	IF172_HUMAN	F	772	ENSP00000260570:L772F	ENSP00000260570:L772F	L	-	1	0	IFT172	27537768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.575000	0.67430	2.564000	0.86499	0.585000	0.79938	CTC	-	IFT172	-	superfamily_ARM-type_fold		0.577	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	0	0		29	29		0.00		G	NM_015662		27684264	-1	9		18		tier1	no_errors	ENST00000260570	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	9	18
HTR1D	3352	genome.wustl.edu	37	1	23519970	23519970	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:23519970G>A	ENST00000374619.1	-	1	1252	c.743C>T	c.(742-744)tCt>tTt	p.S248F	HTR1D_ENST00000314113.3_Missense_Mutation_p.S248F	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	248					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGACCCGGCAGAGCCTGTGAT	0.597													ENSG00000179546																																					0													44.0	49.0	47.0					1																	23519970		2203	4300	6503	SO:0001583	missense	0			-	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.743C>T	1.37:g.23519970G>A	ENSP00000363748:p.Ser248Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.S248F	ENST00000374619.1	37	c.743	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865364	0.51588	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.70869	-0.52;-0.52	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.80616	2.505	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.87250	0.2272	10	0.87932	D	0	.	17.7723	0.88496	0.0:0.0:1.0:0.0	.	248	P28221	5HT1D_HUMAN	F	248	ENSP00000313661:S248F;ENSP00000363748:S248F	ENSP00000313661:S248F	S	-	2	0	HTR1D	23392557	1.000000	0.71417	0.935000	0.37517	0.382000	0.30200	7.876000	0.87215	2.453000	0.82957	0.563000	0.77884	TCT	-	HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt		0.597	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	0	0		39	39		0.00		G	NM_000864		23519970	-1	18		42		tier1	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	30.00		SNP	0.998	A	18	42
ZNF804B	219578	genome.wustl.edu	37	7	88962742	88962742	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:88962742G>A	ENST00000333190.4	+	4	1055	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	149							metal ion binding (GO:0046872)	p.G149E(1)		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)			CTCCAGCAAGGAATTTTCCCC	0.393										HNSCC(36;0.09)			ENSG00000182348																																					1	Substitution - Missense(1)	skin(1)											50.0	51.0	50.0					7																	88962742		2203	4299	6502	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.446G>A	7.37:g.88962742G>A	ENSP00000329638:p.Gly149Glu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.G149E	ENST00000333190.4	37	c.446	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234008	0.39498	.	.	ENSG00000182348	ENST00000333190	T	0.04502	3.61	5.4	2.44	0.29823	.	0.317395	0.27258	N	0.020188	T	0.03136	0.0092	N	0.19112	0.55	0.33423	D	0.580126	B	0.21606	0.058	B	0.20184	0.028	T	0.25916	-1.0118	10	0.34782	T	0.22	-9.8678	5.9975	0.19501	0.2895:0.1369:0.5735:0.0	.	149	A4D1E1	Z804B_HUMAN	E	149	ENSP00000329638:G149E	ENSP00000329638:G149E	G	+	2	0	ZNF804B	88800678	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.669000	0.37492	0.863000	0.35553	-0.157000	0.13467	GGA	-	ZNF804B	-	NULL		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	0	0		68	68		0.00		G	NM_181646		88962742	+1	38		62		tier1	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	38.00		SNP	0.997	A	38	62
MAML3	55534	genome.wustl.edu	37	4	141055231	141055231	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:141055231C>T	ENST00000509479.2	-	1	1325				RP11-392B6.1_ENST00000509184.1_RNA	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ATTAAAACCTCCAGGACTGGC	0.453													ENSG00000250698																																					0																																										SO:0001627	intron_variant	0			-	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.468+18782G>A	4.37:g.141055231C>T				R	SNP	-	NULL	ENST00000509479.2	37	NULL	CCDS54805.1	4																																																																																			-	RP11-392B6.1	-	-		0.453	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927516	Clone_based_vega_gene	protein_coding	OTTHUMT00000364934.2	0	0		36	36		0.00		C			141055231	+1	20		30		tier1	no_errors	ENST00000509184	ensembl	human	known	74_37	rna	40.00		SNP	0.000	T	20	30
BICC1	80114	genome.wustl.edu	37	10	60573665	60573665	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:60573665G>A	ENST00000373886.3	+	18	2456	c.2452G>A	c.(2452-2454)Gac>Aac	p.D818N	BICC1_ENST00000263103.1_Missense_Mutation_p.D444N	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	818					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TAACTGGAGAGACCGAAATGG	0.458													ENSG00000122870																																					0													185.0	169.0	174.0					10																	60573665		2203	4300	6503	SO:0001583	missense	0			-	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2452G>A	10.37:g.60573665G>A	ENSP00000362993:p.Asp818Asn			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.D818N	ENST00000373886.3	37	c.2452	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946565	0.73672	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.58060	1.3;0.36	6.03	5.12	0.69794	.	0.190889	0.56097	D	0.000036	T	0.43897	0.1268	L	0.34521	1.04	0.48901	D	0.999724	B;B	0.32573	0.376;0.1	B;B	0.30401	0.115;0.054	T	0.45644	-0.9247	10	0.72032	D	0.01	-13.7557	15.161	0.72785	0.0:0.0:0.8589:0.1411	.	738;818	E7EU62;Q9H694	.;BICC1_HUMAN	N	818;444	ENSP00000362993:D818N;ENSP00000263103:D444N	ENSP00000263103:D444N	D	+	1	0	BICC1	60243671	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.707000	0.98725	1.546000	0.49388	0.655000	0.94253	GAC	-	BICC1	-	NULL		0.458	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	0	0		101	101		0.00		G	NM_025044		60573665	+1	61		79		tier1	no_errors	ENST00000373886	ensembl	human	known	74_37	missense	43.57		SNP	1.000	A	61	79
NLRP7	199713	genome.wustl.edu	37	19	55450638	55450638	+	Nonsense_Mutation	SNP	G	G	A	rs375006955		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55450638G>A	ENST00000590030.1	-	3	1589	c.1549C>T	c.(1549-1551)Caa>Taa	p.Q517*	NLRP7_ENST00000588756.1_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.Q517*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.Q545*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	517							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCTACTTGAATCAGGTCG	0.557													ENSG00000167634																																					0													82.0	82.0	82.0					19																	55450638		2203	4300	6503	SO:0001587	stop_gained	0			-	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1549C>T	19.37:g.55450638G>A	ENSP00000465520:p.Gln517*		E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.Q545*	ENST00000590030.1	37	c.1633	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647850	0.87958	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	.	.	.	2.34	2.34	0.29019	.	1.534060	0.04614	N	0.400720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	8.2529	0.31737	0.0:0.0:1.0:0.0	.	.	.	.	X	517;517;517;545;284	.	ENSP00000329568:Q517X	Q	-	1	0	NLRP7	60142450	0.000000	0.05858	0.009000	0.14445	0.024000	0.10985	-0.650000	0.05378	1.629000	0.50426	0.462000	0.41574	CAA	-	NLRP7	-	NULL		0.557	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	0	0		36	36		0.00		G	NM_139176		55450638	-1	9		21		tier1	no_errors	ENST00000446217	ensembl	human	known	74_37	nonsense	30.00		SNP	0.022	A	9	21
PRSS35	167681	genome.wustl.edu	37	6	84233768	84233768	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:84233768C>T	ENST00000369700.3	+	2	785	c.608C>T	c.(607-609)tCt>tTt	p.S203F	PRSS35_ENST00000536636.1_Missense_Mutation_p.S203F	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	203	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CGTCGAGGTTCTAAGAGGAGC	0.468													ENSG00000146250																																					0													70.0	76.0	74.0					6																	84233768		2203	4300	6503	SO:0001583	missense	0			-	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.608C>T	6.37:g.84233768C>T	ENSP00000358714:p.Ser203Phe		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.S203F	ENST00000369700.3	37	c.608	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186014	0.57909	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.47177	0.85;0.85	5.65	5.65	0.86999	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.441101	0.22132	N	0.064172	T	0.33177	0.0854	N	0.19112	0.55	0.22835	N	0.998676	P	0.47484	0.896	P	0.48524	0.58	T	0.36261	-0.9755	10	0.72032	D	0.01	-6.9123	19.7135	0.96105	0.0:1.0:0.0:0.0	.	203	Q8N3Z0	PRS35_HUMAN	F	203	ENSP00000440870:S203F;ENSP00000358714:S203F	ENSP00000358714:S203F	S	+	2	0	PRSS35	84290487	0.920000	0.31207	0.024000	0.17045	0.822000	0.46500	2.970000	0.49240	2.665000	0.90641	0.462000	0.41574	TCT	-	PRSS35	-	superfamily_Trypsin-like_Pept_dom		0.468	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	0	0		30	30		0.00		C	NM_153362		84233768	+1	12		39		tier1	no_errors	ENST00000369700	ensembl	human	known	74_37	missense	23.53		SNP	0.242	T	12	39
GREB1L	80000	genome.wustl.edu	37	18	19079818	19079818	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:19079818G>A	ENST00000580732.2	+	22	3901	c.3520G>A	c.(3520-3522)Gct>Act	p.A1174T	GREB1L_ENST00000269218.6_Missense_Mutation_p.A1065T|GREB1L_ENST00000400483.4_3'UTR|GREB1L_ENST00000424526.1_Missense_Mutation_p.A1174T			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1174	Ser-rich.					integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						CGCCAGCTCAGCTGGAGCCGG	0.632													ENSG00000141449																																					0													18.0	21.0	20.0					18																	19079818		692	1591	2283	SO:0001583	missense	0			-	AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.3520G>A	18.37:g.19079818G>A	ENSP00000464162:p.Ala1174Thr		A4QN17|Q9H8F1	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.A1174T	ENST00000580732.2	37	c.3520	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.569715	0.00133	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.06449	3.3;3.3	0.235	-0.47	0.12131	.	0.889113	0.09695	N	0.767838	T	0.03477	0.0100	N	0.24115	0.695	0.09310	N	1	B;B;B	0.20988	0.05;0.013;0.05	B;B;B	0.19148	0.014;0.015;0.024	T	0.48885	-0.8995	9	0.12430	T	0.62	.	.	.	.	.	1065;1174;548	Q9C091-3;Q9C091;B4DDS9	.;GRB1L_HUMAN;.	T	1174;1065	ENSP00000412060:A1174T;ENSP00000269218:A1065T	ENSP00000269218:A1065T	A	+	1	0	GREB1L	17333816	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	-0.599000	0.05700	-0.808000	0.04387	-0.802000	0.03209	GCT	-	GREB1L	-	NULL		0.632	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	0	0		105	105		0.00		G	NM_024935		19079818	+1	20		114		tier1	no_errors	ENST00000424526	ensembl	human	known	74_37	missense	14.93		SNP	0.001	A	20	114
KRT4	3851	genome.wustl.edu	37	12	53207482	53207482	+	Missense_Mutation	SNP	G	G	A	rs200831095	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:53207482G>A	ENST00000551956.1	-	1	853	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	KRT4_ENST00000293774.4_Missense_Mutation_p.P195S|KRT4_ENST00000458244.2_Missense_Mutation_p.P101S			P19013	K2C4_HUMAN	keratin 4	135	Gly-rich.|Head.				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						ACGTGGAGGGGGGTGAGCAAG	0.577													ENSG00000170477																									Pancreas(190;284 2995 41444 45903)												0													96.0	106.0	103.0					12																	53207482		2202	4300	6502	SO:0001583	missense	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.361C>T	12.37:g.53207482G>A	ENSP00000448220:p.Pro121Ser		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.P195S	ENST00000551956.1	37	c.583	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805616	0.90623	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.77229	-1.08;-1.08;-1.08	4.88	4.88	0.63580	.	0.000000	0.46145	D	0.000316	D	0.90796	0.7110	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92680	0.6157	10	0.87932	D	0	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	135	P19013	K2C4_HUMAN	S	121;195;101	ENSP00000448220:P121S;ENSP00000293774:P195S;ENSP00000387904:P101S	ENSP00000293774:P195S	P	-	1	0	KRT4	51493749	1.000000	0.71417	0.992000	0.48379	0.931000	0.56810	9.492000	0.97957	2.636000	0.89361	0.585000	0.79938	CCC	-	KRT4	-	NULL		0.577	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	0	0		60	60		0.00		G	NM_002272		53207482	-1	18		69		tier1	no_errors	ENST00000293774	ensembl	human	known	74_37	missense	20.69		SNP	1.000	A	18	69
FAM83G	644815	genome.wustl.edu	37	17	18881549	18881549	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:18881549G>A	ENST00000388995.6	-	5	1653	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	FAM83G_ENST00000345041.4_Missense_Mutation_p.P477L|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P477L|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	477	Pro-rich.				BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGGCTCTGGGGGAGGGCAAGG	0.692													ENSG00000188522																																					0													20.0	24.0	23.0					17																	18881549		2026	4185	6211	SO:0001583	missense	0			-	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1430C>T	17.37:g.18881549G>A	ENSP00000373647:p.Pro477Leu		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.P477L	ENST00000388995.6	37	c.1430	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	2.113	-0.403236	0.04865	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11712	2.75;2.75	5.16	4.16	0.48862	.	1.453650	0.03940	N	0.286781	T	0.11665	0.0284	L	0.29908	0.895	0.26923	N	0.966628	B	0.20671	0.047	B	0.19946	0.027	T	0.29397	-1.0013	10	0.46703	T	0.11	.	9.8557	0.41084	0.0:0.1514:0.6916:0.157	.	477	A6ND36	FA83G_HUMAN	L	477	ENSP00000373647:P477L;ENSP00000343279:P477L	ENSP00000343279:P477L	P	-	2	0	FAM83G	18822274	0.002000	0.14202	0.038000	0.18304	0.017000	0.09413	0.930000	0.28858	1.139000	0.42245	0.650000	0.86243	CCC	-	FAM83G	-	NULL		0.692	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	0	0		36	36		0.00		G			18881549	-1	16		29		tier1	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	35.56		SNP	0.536	A	16	29
ABCA7	10347	genome.wustl.edu	37	19	1062213	1062213	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1062213C>T	ENST00000263094.6	+	42	5844	c.5613C>T	c.(5611-5613)taC>taT	p.Y1871Y	ABCA7_ENST00000433129.1_Silent_p.Y1871Y|ABCA7_ENST00000435683.2_Silent_p.Y1733Y	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1871	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATGGGATACTGCCCTCAAT	0.687													ENSG00000064687																																					0													105.0	114.0	111.0					19																	1062213		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5613C>T	19.37:g.1062213C>T			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y1871	ENST00000263094.6	37	c.5613	CCDS12055.1	19																																																																																			-	ABCA7	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.687	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	0	0		32	32		0.00		C	NM_019112		1062213	+1	4		33		tier1	no_errors	ENST00000263094	ensembl	human	known	74_37	silent	10.81		SNP	1.000	T	4	33
ZSWIM8	23053	genome.wustl.edu	37	10	75552596	75552596	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:75552596G>A	ENST00000605216.1	+	10	2516	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.E767K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.E734K|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E767K|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E767K|ZSWIM8_ENST00000431225.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	767							zinc ion binding (GO:0008270)										ACTGGAACAGGAGAGTCGCAT	0.632													ENSG00000214655																																					0													47.0	53.0	51.0					10																	75552596		1963	3978	5941	SO:0001583	missense	0			-	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2299G>A	10.37:g.75552596G>A	ENSP00000474748:p.Glu767Lys		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.E767K	ENST00000605216.1	37	c.2299		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.560080|4.560080	0.86335|0.86335	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366	T|.	0.52526|.	0.66|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.64402|.	U|.	0.000012|.	T|T	0.72053|0.72053	0.3413|0.3413	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.996;0.996;0.996;0.996|.	D;D;D;D|.	0.76071|.	0.987;0.987;0.987;0.987|.	T|T	0.67011|0.67011	-0.5778|-0.5778	10|5	0.66056|.	D|.	0.02|.	-8.9435|-8.9435	19.6982|19.6982	0.96039|0.96039	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	767;767;767;767|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	K|E	767|489	ENSP00000381693:E767K|.	ENSP00000381693:E767K|.	E|G	+|+	1|2	0|0	KIAA0913|KIAA0913	75222602|75222602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.547000|9.547000	0.98100|0.98100	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|GGA	-	ZSWIM8	-	NULL		0.632	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	0	0		48	48		0.00		G	NM_001242487		75552596	+1	8		50		tier1	no_errors	ENST00000398706	ensembl	human	known	74_37	missense	13.79		SNP	1.000	A	8	50
UNC93B1	81622	genome.wustl.edu	37	11	67766694	67766694	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:67766694G>A	ENST00000227471.2	-	5	715	c.636C>T	c.(634-636)tcC>tcT	p.S212S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											AGGGCGCGTGGGAGCCCCGCG	0.602													ENSG00000110057																																					0													64.0	74.0	71.0					11																	67766694		2033	4184	6217	SO:0001819	synonymous_variant	0			-	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.636C>T	11.37:g.67766694G>A			O95764|Q569H6|Q710D4	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.S212	ENST00000227471.2	37	c.636		11																																																																																			-	UNC93B1	-	NULL		0.602	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		0	0		42	42		0.00		G	NM_030930		67766694	-1	20		53		tier1	no_errors	ENST00000227471	ensembl	human	known	74_37	silent	27.40		SNP	1.000	A	20	53
NLGN1	22871	genome.wustl.edu	37	3	173998573	173998573	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:173998573C>T	ENST00000457714.1	+	7	2381	c.1952C>T	c.(1951-1953)cCc>cTc	p.P651L	NLGN1_ENST00000545397.1_Missense_Mutation_p.P651L|NLGN1_ENST00000361589.4_Missense_Mutation_p.P651L|NLGN1_ENST00000401917.3_Missense_Mutation_p.P691L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	668					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCAGCCTTTCCCACTGCCAAG	0.443													ENSG00000169760																																					0													116.0	117.0	117.0					3																	173998573		2203	4300	6503	SO:0001583	missense	0			-	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1952C>T	3.37:g.173998573C>T	ENSP00000392500:p.Pro651Leu		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P691L	ENST00000457714.1	37	c.2072	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131425	0.56828	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.68331	-0.31;-0.31;-0.31;-0.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.71195	0.3311	M	0.73217	2.22	0.80722	D	1	P	0.40302	0.712	B	0.42030	0.373	T	0.70974	-0.4726	10	0.39692	T	0.17	.	19.9651	0.97262	0.0:1.0:0.0:0.0	.	651	Q8N2Q7-2	.	L	651;651;651;691	ENSP00000392500:P651L;ENSP00000354541:P651L;ENSP00000441108:P651L;ENSP00000385750:P691L	ENSP00000354541:P651L	P	+	2	0	NLGN1	175481267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	CCC	-	NLGN1	-	NULL		0.443	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	0	0		24	24		0.00		C	NM_014932		173998573	+1	13		27		tier1	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	32.50		SNP	1.000	T	13	27
TINAGL1	64129	genome.wustl.edu	37	1	32050260	32050260	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:32050260G>A	ENST00000271064.7	+	6	658				TINAGL1_ENST00000457433.2_Intron|TINAGL1_ENST00000537531.1_Intron|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1						endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AGGCAGACAGGGCAACCTTTA	0.597													ENSG00000142910																																					0													93.0	94.0	94.0					1																	32050260		2203	4300	6503	SO:0001627	intron_variant	0			-	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.583-19G>A	1.37:g.32050260G>A			A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	R	SNP	-	NULL	ENST00000271064.7	37	NULL	CCDS343.1	1																																																																																			-	TIGL1	-	-		0.597	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGL1	HGNC	protein_coding	OTTHUMT00000011072.1	0	0		42	42		0.00		G	NM_022164		32050260	+1	18		33		tier1	no_errors	ENST00000463112	ensembl	human	known	74_37	rna	35.29		SNP	0.000	A	18	33
DOCK2	1794	genome.wustl.edu	37	5	169446041	169446041	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:169446041C>T	ENST00000256935.8	+	33	3390	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W	DOCK2_ENST00000540750.1_Missense_Mutation_p.R165W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R596W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1104	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTGAGCTCCGGAAAGCCAC	0.438													ENSG00000134516																																					0													200.0	196.0	197.0					5																	169446041		2203	4300	6503	SO:0001583	missense	0			-	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3310C>T	5.37:g.169446041C>T	ENSP00000256935:p.Arg1104Trp		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.R1104W	ENST00000256935.8	37	c.3310	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799727	0.70567	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.73363	-0.74;-0.74;0.36	4.8	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.92026	3.265	0.48511	D	0.999664	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.983	D	0.90374	0.4383	10	0.87932	D	0	.	13.847	0.63474	0.1589:0.8411:0.0:0.0	.	596;1104	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1104;596;165	ENSP00000256935:R1104W;ENSP00000429283:R596W;ENSP00000438827:R165W	ENSP00000256935:R1104W	R	+	1	2	DOCK2	169378619	0.987000	0.35691	1.000000	0.80357	0.974000	0.67602	2.449000	0.44935	0.943000	0.37553	0.650000	0.86243	CGG	-	DOCK2	-	superfamily_ARM-type_fold		0.438	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	0	0		35	35		0.00		C	NM_004946		169446041	+1	19		27		tier1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	41.30		SNP	1.000	T	19	27
ACE	1636	genome.wustl.edu	37	17	61558520	61558520	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:61558520C>T	ENST00000290866.4	+	6	940	c.916C>T	c.(916-918)Ctc>Ttc	p.L306F	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L306F|ACE_ENST00000538928.1_Missense_Mutation_p.L306F	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	306	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAAGCCCAACCTCGATGTCAC	0.577													ENSG00000159640																																					0													116.0	100.0	106.0					17																	61558520		2203	4300	6503	SO:0001583	missense	0			-	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.916C>T	17.37:g.61558520C>T	ENSP00000290866:p.Leu306Phe		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.L306F	ENST00000290866.4	37	c.916	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105000	0.56291	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.41758	0.99;0.99;0.99	4.21	2.1	0.27182	.	0.252952	0.32416	N	0.006132	T	0.46210	0.1381	M	0.73753	2.245	0.80722	D	1	D;D;P	0.65815	0.995;0.99;0.786	P;P;B	0.52514	0.701;0.602;0.315	T	0.45571	-0.9252	10	0.44086	T	0.13	-24.7471	3.9191	0.09236	0.2681:0.5103:0.1358:0.0858	.	306;306;306	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	F	306	ENSP00000439591:L306F;ENSP00000290866:L306F;ENSP00000397593:L306F	ENSP00000290866:L306F	L	+	1	0	ACE	58912252	0.001000	0.12720	0.975000	0.42487	0.854000	0.48673	-0.256000	0.08757	2.180000	0.69256	0.561000	0.74099	CTC	-	ACE	-	pfam_Peptidase_M2		0.577	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	0	0		56	56		0.00		C			61558520	+1	7		61		tier1	no_errors	ENST00000290866	ensembl	human	known	74_37	missense	10.29		SNP	0.550	T	7	61
ADNP2	22850	genome.wustl.edu	37	18	77896527	77896527	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:77896527C>T	ENST00000262198.4	+	4	3686	c.3231C>T	c.(3229-3231)tcC>tcT	p.S1077S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1077					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AACTGTTGTCCTCACTCTTTT	0.313													ENSG00000101544																																					0													54.0	60.0	58.0					18																	77896527		2202	4295	6497	SO:0001819	synonymous_variant	0			-	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3231C>T	18.37:g.77896527C>T			A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S1077	ENST00000262198.4	37	c.3231	CCDS32853.1	18																																																																																			-	ADNP2	-	superfamily_Homeodomain-like,smart_Homeobox_dom		0.313	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	0	0		81	81		0.00		C	NM_014913		77896527	+1	27		24		tier1	no_errors	ENST00000262198	ensembl	human	known	74_37	silent	52.94		SNP	0.001	T	27	24
ZFYVE9	9372	genome.wustl.edu	37	1	52703568	52703568	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:52703568G>A	ENST00000371591.1	+	3	610	c.479G>A	c.(478-480)aGg>aAg	p.R160K	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.R160K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R160K	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	160					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGTGATAAAAGGACATTACAA	0.373													ENSG00000157077																																					0													71.0	69.0	70.0					1																	52703568		2203	4300	6503	SO:0001583	missense	0			-	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.479G>A	1.37:g.52703568G>A	ENSP00000360647:p.Arg160Lys		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.R160K	ENST00000371591.1	37	c.479	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026547	0.35797	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.55413	1.0;0.52;1.03;1.03	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000018	T	0.36991	0.0987	N	0.24115	0.695	0.31162	N	0.704257	B;B;B	0.16603	0.001;0.001;0.018	B;B;B	0.12156	0.004;0.002;0.007	T	0.26467	-1.0102	10	0.17369	T	0.5	.	13.3197	0.60426	0.0754:0.0:0.9246:0.0	.	160;160;160	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	K	160	ENSP00000349737:R160K;ENSP00000355358:R160K;ENSP00000287727:R160K;ENSP00000360647:R160K	ENSP00000287727:R160K	R	+	2	0	ZFYVE9	52476156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.837000	0.55820	2.729000	0.93468	0.655000	0.94253	AGG	-	ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	0	0		76	76		0.00		G	NM_007324		52703568	+1	40		63		tier1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	38.83		SNP	1.000	A	40	63
CUX2	23316	genome.wustl.edu	37	12	111776258	111776258	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:111776258T>C	ENST00000261726.6	+	20	3519	c.3365T>C	c.(3364-3366)aTg>aCg	p.M1122T	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1122					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTGAGGGATATGAAGAAGCTG	0.542													ENSG00000111249																																					0													56.0	64.0	62.0					12																	111776258		2009	4192	6201	SO:0001583	missense	0			-	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3365T>C	12.37:g.111776258T>C	ENSP00000261726:p.Met1122Thr		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.M1122T	ENST00000261726.6	37	c.3365	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195926	0.58126	.	.	ENSG00000111249	ENST00000261726	T	0.53640	0.61	5.32	5.32	0.75619	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.081827	0.85682	D	0.000000	T	0.41442	0.1159	L	0.33485	1.01	0.80722	D	1	B	0.18013	0.025	B	0.25759	0.063	T	0.30475	-0.9977	10	0.56958	D	0.05	-23.0052	15.3177	0.74095	0.0:0.0:0.0:1.0	.	1122	O14529	CUX2_HUMAN	T	1122	ENSP00000261726:M1122T	ENSP00000261726:M1122T	M	+	2	0	CUX2	110260641	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.040000	0.89188	2.020000	0.59435	0.533000	0.62120	ATG	-	CUX2	-	superfamily_Lambda_D-bd_dom,pfscan_Hmoeo_CUT		0.542	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	0	0		34	34		0.00		T	NM_015267		111776258	+1	15		34		tier1	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	30.00		SNP	1.000	C	15	34
STX16	8675	genome.wustl.edu	37	20	57248696	57248696	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:57248696C>T	ENST00000371141.4	+	8	1526	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F	STX16_ENST00000371132.4_Missense_Mutation_p.L247F|STX16_ENST00000358029.4_Missense_Mutation_p.L264F|STX16_ENST00000359617.4_Missense_Mutation_p.L215F|STX16_ENST00000355957.5_Missense_Mutation_p.L251F|STX16_ENST00000361770.5_Missense_Mutation_p.L251F|STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.L268F|STX16_ENST00000361830.3_Missense_Mutation_p.L268F	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	268	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GGGTACAGTCCTTGACAGAAT	0.363													ENSG00000254995																																					0													128.0	111.0	117.0					20																	57248696		2203	4300	6503	SO:0001583	missense	0			-	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.802C>T	20.37:g.57248696C>T	ENSP00000360183:p.Leu268Phe		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	pfam_T_SRE_dom,pfam_Syntaxin_N,superfamily_t-SRE,smart_T_SRE_dom,pfscan_T_SRE_dom	p.L268F	ENST00000371141.4	37	c.802	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.202514	0.94997	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T;T	0.44482	1.6;1.6;1.6;1.6;1.6;1.6;1.6;0.92	5.95	5.95	0.96441	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.64402	U	0.000001	T	0.75287	0.3829	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.994;0.999	D;D;D;D	0.85130	0.991;0.997;0.976;0.996	T	0.80977	-0.1141	10	0.87932	D	0	.	19.3736	0.94500	0.0:1.0:0.0:0.0	.	264;251;247;268	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	F	251;251;215;268;215;247;264;268;162;82	ENSP00000348229:L251F;ENSP00000355408:L251F;ENSP00000352634:L215F;ENSP00000360183:L268F;ENSP00000360173:L247F;ENSP00000350723:L264F;ENSP00000354445:L268F;ENSP00000401801:L162F	ENSP00000360180:L215F	L	+	1	0	STX16	56682102	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.487000	0.81328	2.825000	0.97269	0.655000	0.94253	CTT	-	STX16-NPEPL1	-	pfam_T_SRE_dom,superfamily_t-SRE,smart_T_SRE_dom,pfscan_T_SRE_dom		0.363	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16-NPEPL1	HGNC	protein_coding	OTTHUMT00000080517.2	0	0		67	67		0.00		C	NM_001001433		57248696	+1	14		81		tier1	no_errors	ENST00000530122	ensembl	human	known	74_37	missense	14.74		SNP	1.000	T	14	81
CREG1	8804	genome.wustl.edu	37	1	167517278	167517278	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:167517278G>A	ENST00000370509.4	-	2	460	c.435C>T	c.(433-435)ccC>ccT	p.P145P	CREG1_ENST00000466652.1_5'Flank	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	145					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|transcription factor complex (GO:0005667)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)|transcription corepressor activity (GO:0003714)										GAACACAAAGGGGACTTTGTG	0.413													ENSG00000143162																																					0													152.0	139.0	143.0					1																	167517278		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF084523	CCDS1262.1	1q24	2008-02-05	2004-09-22	2004-09-22	ENSG00000143162	ENSG00000143162			2351	protein-coding gene	gene with protein product			"""cellular repressor of E1A-stimulated genes"""	CREG		9710587	Standard	NM_003851		Approved		uc001gel.3	O75629	OTTHUMG00000034682	ENST00000370509.4:c.435C>T	1.37:g.167517278G>A			B2RDD4|Q8N9A3	Silent	SNP	superfamily_Split_barrel_FMN-bd,pirsf_CREG	p.P145	ENST00000370509.4	37	c.435	CCDS1262.1	1																																																																																			-	CREG1	-	superfamily_Split_barrel_FMN-bd,pirsf_CREG		0.413	CREG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREG1	HGNC	protein_coding	OTTHUMT00000083911.1	0	0		73	73		0.00		G	NM_003851		167517278	-1	56		61		tier1	no_errors	ENST00000370509	ensembl	human	known	74_37	silent	47.86		SNP	1.000	A	56	61
AQP5	362	genome.wustl.edu	37	12	50355889	50355889	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:50355889G>A	ENST00000293599.6	+	1	237	c.89G>A	c.(88-90)gGc>gAc	p.G30D	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	30					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TTTGGCCTGGGCTCGGCCCTC	0.662													ENSG00000161798																																					0													62.0	44.0	50.0					12																	50355889		2203	4300	6503	SO:0001583	missense	0			-	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.89G>A	12.37:g.50355889G>A	ENSP00000293599:p.Gly30Asp		Q6FGW8	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP	p.G30D	ENST00000293599.6	37	c.89	CCDS8793.1	12	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776263	0.70107	.	.	ENSG00000161798	ENST00000293599	D	0.94931	-3.56	3.76	1.92	0.25849	Aquaporin-like (2);	0.100406	0.42420	N	0.000712	D	0.98213	0.9409	H	0.99634	4.67	0.53005	D	0.99996	D	0.65815	0.995	D	0.75020	0.985	D	0.96092	0.9062	10	0.87932	D	0	-9.1844	7.715	0.28700	0.2149:0.0:0.7851:0.0	.	30	P55064	AQP5_HUMAN	D	30	ENSP00000293599:G30D	ENSP00000293599:G30D	G	+	2	0	AQP5	48642156	1.000000	0.71417	0.455000	0.27031	0.807000	0.45602	3.260000	0.51523	0.393000	0.25203	0.462000	0.41574	GGC	-	AQP5	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.662	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP5	HGNC	protein_coding	OTTHUMT00000405542.2	0	0		75	75		0.00		G	NM_001651		50355889	+1	25		54		tier1	no_errors	ENST00000293599	ensembl	human	known	74_37	missense	31.65		SNP	0.997	A	25	54
ANKRD30A	91074	genome.wustl.edu	37	10	37447469	37447469	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:37447469C>T	ENST00000602533.1	+	15	1786	c.1687C>T	c.(1687-1689)Cca>Tca	p.P563S	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P563S|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P563S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	619					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGTTTCTATTCCAACTAAAGC	0.289													ENSG00000148513																																					0													110.0	101.0	103.0					10																	37447469		1799	4074	5873	SO:0001583	missense	0			-	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1687C>T	10.37:g.37447469C>T	ENSP00000473551:p.Pro563Ser		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P563S	ENST00000602533.1	37	c.1687		10	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.579507	0.00879	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06142	3.34;3.34	1.59	1.59	0.23543	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	D	0.54601	0.967	P	0.62382	0.901	T	0.16453	-1.0402	9	0.05436	T	0.98	.	6.5982	0.22685	0.0:1.0:0.0:0.0	.	619	Q9BXX3	AN30A_HUMAN	S	563	ENSP00000354432:P563S;ENSP00000363792:P563S	ENSP00000354432:P563S	P	+	1	0	ANKRD30A	37487475	0.001000	0.12720	0.010000	0.14722	0.002000	0.02628	0.640000	0.24705	1.172000	0.42781	0.390000	0.25778	CCA	-	ANKRD30A	-	NULL		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	0	0		265	265		0.00		C	NM_052997		37447469	+1	47		239		tier1	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	16.38		SNP	0.014	T	47	239
VRK1	7443	genome.wustl.edu	37	14	97313614	97313614	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:97313614C>T	ENST00000216639.3	+	5	456	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GATTCGTACCCGTAAGCTGAA	0.318													ENSG00000100749																																					0													100.0	98.0	99.0					14																	97313614		2203	4300	6503	SO:0001583	missense	0			-	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.307C>T	14.37:g.97313614C>T	ENSP00000216639:p.Arg103Cys		Q3SYL2	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.R103C	ENST00000216639.3	37	c.307	CCDS9947.1	14	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553529	0.86127	.	.	ENSG00000100749	ENST00000216639	T	0.49432	0.78	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.346611	0.37857	N	0.001913	T	0.54334	0.1852	M	0.62154	1.92	0.36388	D	0.862369	D	0.58970	0.984	P	0.45071	0.468	T	0.65175	-0.6232	10	0.87932	D	0	-16.3172	20.2195	0.98323	0.0:1.0:0.0:0.0	.	103	Q99986	VRK1_HUMAN	C	103	ENSP00000216639:R103C	ENSP00000216639:R103C	R	+	1	0	VRK1	96383367	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.231000	0.58639	2.880000	0.98712	0.650000	0.86243	CGT	-	VRK1	-	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		0.318	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRK1	HGNC	protein_coding	OTTHUMT00000413520.1	0	0		107	107		0.00		C	NM_003384		97313614	+1	35		54		tier1	no_errors	ENST00000216639	ensembl	human	known	74_37	missense	39.33		SNP	1.000	T	35	54
DNAH17	8632	genome.wustl.edu	37	17	76424752	76424752	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:76424752C>T	ENST00000585328.1	-	77	12551	c.12427G>A	c.(12427-12429)Gag>Aag	p.E4143K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E4142K|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4142					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGGGACTCTCAGGGGGCAGG	0.527													ENSG00000187775																																					0													117.0	102.0	107.0					17																	76424752		2203	4300	6503	SO:0001583	missense	0			-	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12427G>A	17.37:g.76424752C>T	ENSP00000465516:p.Glu4143Lys		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.E4142K	ENST00000585328.1	37	c.12424		17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144196	0.77888	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09538	2.97	5.07	5.07	0.68467	.	0.000000	0.50627	D	0.000105	T	0.50051	0.1593	H	0.98238	4.18	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.71978	-0.4429	10	0.87932	D	0	.	18.4676	0.90761	0.0:1.0:0.0:0.0	.	4143	E7EUM8	.	K	4143;4142	ENSP00000374490:E4142K	ENSP00000300671:E4143K	E	-	1	0	DNAH17	73936347	1.000000	0.71417	0.993000	0.49108	0.121000	0.20230	7.610000	0.82949	2.359000	0.80004	0.655000	0.94253	GAG	-	DH17	-	pfam_Dynein_heavy_dom		0.527	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DH17	HGNC	protein_coding	OTTHUMT00000318962.2	0	0		41	41		0.00		C	NM_173628		76424752	-1	25		46		tier1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	35.21		SNP	1.000	T	25	46
POTEA	340441	genome.wustl.edu	37	8	43155758	43155758	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:43155758G>A	ENST00000522175.2	+	0	688				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCACTTGATAGGTTTGGAAGG	0.318													ENSG00000188877																																					0													54.0	59.0	57.0					8																	43155758		2183	4284	6467			0			-	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43155758G>A			A6ND17|A6ND71|Q6S8J6	R	SNP	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			-	POTEA	-	-		0.318	POTEA-003	KNOWN	basic	processed_transcript	POTEA	HGNC	pseudogene	OTTHUMT00000383492.1	1	1		175	175		0.56		G	NM_001002920		43155758	+1	60		115		tier1	no_errors	ENST00000522175	ensembl	human	known	74_37	rna	34.29		SNP	0.001	A	60	115
MACF1	23499	genome.wustl.edu	37	1	39801547	39801547	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:39801547G>A	ENST00000372915.3	+	36	9389	c.9302G>A	c.(9301-9303)gGg>gAg	p.G3101E	MACF1_ENST00000567887.1_Missense_Mutation_p.G3133E|MACF1_ENST00000564288.1_Missense_Mutation_p.G3096E|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G1536E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3101					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTGCCTGTGGGGCCCAGAGT	0.443													ENSG00000127603																																					0													48.0	55.0	53.0					1																	39801547		2203	4300	6503	SO:0001583	missense	0			-	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9302G>A	1.37:g.39801547G>A	ENSP00000362006:p.Gly3101Glu		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	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_RNaseH-like_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.G3133E	ENST00000372915.3	37	c.9398		1	.	.	.	.	.	.	.	.	.	.	G	3.773	-0.047168	0.07407	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60920	0.15;1.24	4.93	-2.24	0.06909	.	1.624970	0.03236	N	0.179677	T	0.37705	0.1013	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.22836	-1.0205	10	0.56958	D	0.05	.	0.8699	0.01212	0.1766:0.2793:0.2595:0.2846	.	3101	Q9UPN3	MACF1_HUMAN	E	3101;1536	ENSP00000362006:G3101E;ENSP00000289893:G1536E	ENSP00000289893:G1536E	G	+	2	0	MACF1	39574134	0.000000	0.05858	0.000000	0.03702	0.528000	0.34623	-0.157000	0.10085	-0.178000	0.10672	-0.253000	0.11424	GGG	-	MACF1	-	superfamily_RNaseH-like_dom		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	0	0		89	89		0.00		G	NM_033044		39801547	+1	36		63		tier1	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	36.36		SNP	0.000	A	36	63
ZNF90	7643	genome.wustl.edu	37	19	20228657	20228657	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:20228657G>A	ENST00000418063.2	+	4	406	c.294G>A	c.(292-294)gtG>gtA	p.V98V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	98					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TCCAAAAAGTGATAGTGACAA	0.338													ENSG00000213988																																					0													119.0	109.0	112.0					19																	20228657		692	1591	2283	SO:0001819	synonymous_variant	0			-	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.294G>A	19.37:g.20228657G>A			B9EH87	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.V98	ENST00000418063.2	37	c.294	CCDS46028.1	19																																																																																			-	ZNF90	-	NULL		0.338	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	0	0		116	116		0.00		G	NM_007138		20228657	+1	22		87		tier1	no_errors	ENST00000418063	ensembl	human	known	74_37	silent	20.18		SNP	0.000	A	22	87
NCOA5	57727	genome.wustl.edu	37	20	44692194	44692194	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:44692194C>T	ENST00000290231.6	-	7	1119	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGGATGGCTTCATCGGCCATC	0.582													ENSG00000124160																																					0													64.0	58.0	60.0					20																	44692194		2203	4300	6503	SO:0001583	missense	0			-		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.955G>A	20.37:g.44692194C>T	ENSP00000290231:p.Glu319Lys		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.E319K	ENST00000290231.6	37	c.955	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563670	0.65651	.	.	ENSG00000124160	ENST00000290231	T	0.49139	0.79	5.41	5.41	0.78517	Anticodon-binding (1);	0.226724	0.52532	D	0.000064	T	0.40645	0.1125	L	0.29908	0.895	0.41511	D	0.988345	B	0.09022	0.002	B	0.08055	0.003	T	0.20739	-1.0266	10	0.56958	D	0.05	-4.3913	18.3708	0.90406	0.0:1.0:0.0:0.0	.	319	Q9HCD5	NCOA5_HUMAN	K	319	ENSP00000290231:E319K	ENSP00000290231:E319K	E	-	1	0	NCOA5	44125601	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.932000	0.70121	2.816000	0.96949	0.561000	0.74099	GAA	-	NCOA5	-	superfamily_Anticodon-bd		0.582	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	0	0		44	44		0.00		C	NM_020967		44692194	-1	22		46		tier1	no_errors	ENST00000290231	ensembl	human	known	74_37	missense	32.35		SNP	1.000	T	22	46
NBEAL2	23218	genome.wustl.edu	37	3	47047004	47047004	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47047004C>T	ENST00000450053.3	+	41	6765	c.6586C>T	c.(6586-6588)Cac>Tac	p.H2196Y	NBEAL2_ENST00000383740.2_Missense_Mutation_p.H475Y|NBEAL2_ENST00000292309.5_Missense_Mutation_p.H2012Y	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2196	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCGGCAGTTCCACTCGGTGGC	0.627													ENSG00000160796																																					0													15.0	16.0	16.0					3																	47047004		1926	4130	6056	SO:0001583	missense	0			-	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.6586C>T	3.37:g.47047004C>T	ENSP00000415034:p.His2196Tyr		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H2196Y	ENST00000450053.3	37	c.6586	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716302|4.716302	0.89205|0.89205	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550;ENST00000423436|ENST00000443829	T;T;T;T|.	0.80304|.	-1.36;-1.36;-1.36;-1.36|.	4.9|4.9	4.9|4.9	0.64082|0.64082	BEACH domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69815|0.69815	0.3153|0.3153	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	D;P|.	0.71674|.	0.998;0.594|.	D;B|.	0.80764|.	0.994;0.355|.	T|T	0.67484|0.67484	-0.5659|-0.5659	10|5	0.56958|.	D|.	0.05|.	.|.	16.8148|16.8148	0.85730|0.85730	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2012;2196|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	Y|L	2012;475;2196;139;23|564	ENSP00000292309:H2012Y;ENSP00000373246:H475Y;ENSP00000415034:H2196Y;ENSP00000415063:H23Y|.	ENSP00000292309:H2012Y|.	H|P	+|+	1|2	0|0	NBEAL2|NBEAL2	47022008|47022008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.552000|7.552000	0.82192|0.82192	2.544000|2.544000	0.85801|0.85801	0.655000|0.655000	0.94253|0.94253	CAC|CCA	-	NBEAL2	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	0	0		50	50		0.00		C	XM_291064		47047004	+1	25		53		tier1	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	32.05		SNP	1.000	T	25	53
SLC45A2	51151	genome.wustl.edu	37	5	33984600	33984600	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:33984600C>T	ENST00000296589.4	-	1	235	c.89G>A	c.(88-90)aGa>aAa	p.R30K	SLC45A2_ENST00000345083.5_Missense_Mutation_p.R30K|SLC45A2_ENST00000509381.1_Missense_Mutation_p.R30K|SLC45A2_ENST00000342059.3_Missense_Mutation_p.R30K|SLC45A2_ENST00000382102.3_Missense_Mutation_p.R30K	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	30					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GCTGGTGGGTCTTTTAGGCGG	0.577													ENSG00000164175																									Ovarian(31;380 859 8490 22203 49048)												0													50.0	50.0	50.0					5																	33984600		2203	4300	6503	SO:0001583	missense	0			-	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.89G>A	5.37:g.33984600C>T	ENSP00000296589:p.Arg30Lys		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R30K	ENST00000296589.4	37	c.89	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369992	0.82573	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	T;T;T;T	0.81078	-1.45;-1.45;-1.45;0.85	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.79644	0.4481	L	0.27053	0.805	0.35908	D	0.83086	D;D;B	0.61080	0.989;0.987;0.203	P;P;B	0.62491	0.729;0.903;0.223	T	0.78186	-0.2302	10	0.16896	T	0.51	-30.6446	12.1645	0.54123	0.0:0.8767:0.0:0.1233	.	30;30;30	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	K	30	ENSP00000296589:R30K;ENSP00000341014:R30K;ENSP00000371534:R30K;ENSP00000340444:R30K	ENSP00000296589:R30K	R	-	2	0	SLC45A2	34020357	0.969000	0.33509	0.236000	0.24074	0.080000	0.17528	3.794000	0.55492	2.535000	0.85469	0.551000	0.68910	AGA	-	SLC45A2	-	superfamily_MFS_dom_general_subst_transpt		0.577	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	0	0		85	85		0.00		C	NM_016180		33984600	-1	38		67		tier1	no_errors	ENST00000296589	ensembl	human	known	74_37	missense	36.19		SNP	0.513	T	38	67
CDH26	60437	genome.wustl.edu	37	20	58562572	58562572	+	Missense_Mutation	SNP	G	G	A	rs184110890		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:58562572G>A	ENST00000244047.5	+	8	1213	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	CDH26_ENST00000348616.4_Missense_Mutation_p.R301Q			Q8IXH8	CAD26_HUMAN	cadherin 26	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> G (in dbSNP:rs11086690).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTTCAAGATCGAGATTCTCCA	0.458													ENSG00000124215	G|||	1	0.000199681	0.0008	0.0	5008	,	,		22188	0.0		0.0	False		,,,				2504	0.0																0													96.0	78.0	84.0					20																	58562572		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.902G>A	20.37:g.58562572G>A	ENSP00000244047:p.Arg301Gln		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R301Q	ENST00000244047.5	37	c.902		20	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.08	1.533555	0.27387	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.52983	0.64;0.64	4.54	-1.01	0.10169	.	0.964284	0.08661	N	0.912469	T	0.32102	0.0818	L	0.33189	0.99	0.09310	N	1	B	0.18166	0.026	B	0.04013	0.001	T	0.25047	-1.0143	10	0.45353	T	0.12	.	5.1729	0.15120	0.4356:0.1493:0.4151:0.0	.	301	Q8IXH8-4	.	Q	301	ENSP00000244047:R301Q;ENSP00000339390:R301Q	ENSP00000244047:R301Q	R	+	2	0	CDH26	57995967	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.861000	0.04268	-0.105000	0.12132	0.655000	0.94253	CGA	rs184110890	CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		0	0		42	42		0.00		G	NM_177980		58562572	+1	31		43		tier1	no_errors	ENST00000244047	ensembl	human	known	74_37	missense	41.89		SNP	0.000	A	31	43
DCSTAMP	81501	genome.wustl.edu	37	8	105361403	105361403	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:105361403C>T	ENST00000297581.2	+	2	672	c.623C>T	c.(622-624)tCc>tTc	p.S208F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S208F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	208					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)											GAGGTGTTGTCCTCCCTGGGT	0.542													ENSG00000164935																																					0													107.0	97.0	101.0					8																	105361403		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.623C>T	8.37:g.105361403C>T	ENSP00000297581:p.Ser208Phe		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.S208F	ENST00000297581.2	37	c.623	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045247	0.55110	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.35048	1.33	5.52	4.64	0.57946	.	0.290340	0.39615	N	0.001307	T	0.45994	0.1370	L	0.53249	1.67	0.29027	N	0.885913	D	0.57899	0.981	P	0.57371	0.819	T	0.41875	-0.9484	9	.	.	.	-12.16	9.198	0.37240	0.0:0.7763:0.1472:0.0766	.	208	Q9H295	TM7S4_HUMAN	F	208	ENSP00000297581:S208F	.	S	+	2	0	TM7SF4	105430579	0.895000	0.30542	0.069000	0.20011	0.698000	0.40448	2.323000	0.43823	1.341000	0.45600	0.555000	0.69702	TCC	-	DCSTAMP	-	NULL		0.542	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	0	0		33	33		0.00		C	NM_030788		105361403	+1	13		25		tier1	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	34.21		SNP	0.690	T	13	25
ALDH1L2	160428	genome.wustl.edu	37	12	105425713	105425713	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:105425713C>T	ENST00000258494.9	-	20	2385		c.e20-1		C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTTCTTCTACCTGTATGTTAC	0.363													ENSG00000136010																																					0													138.0	143.0	141.0					12																	105425713		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2245-1G>A	12.37:g.105425713C>T			Q3SY68|Q68D62|Q6AI55|Q8N922	Splice_Site	SNP	-	e20-1	ENST00000258494.9	37	c.2245-1	CCDS31891.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.29|19.29	3.799602|3.799602	0.70567|0.70567	.|.	.|.	ENSG00000136010|ENSG00000136010	ENST00000258494|ENST00000548418	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75376	.|0.3841	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73154	.|-0.4072	.|4	.|.	.|.	.|.	.|.	19.6632|19.6632	0.95882|0.95882	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|1	.|.	.|.	.|G	-|-	.|1	.|0	ALDH1L2|ALDH1L2	103949843|103949843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	7.747000|7.747000	0.85070|0.85070	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	.|GGT	-	ALDH1L2	-	-		0.363	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	0	0		43	43		0.00		C	XM_090294	Intron	105425713	-1	15		50		tier1	no_errors	ENST00000258494	ensembl	human	known	74_37	splice_site	23.08		SNP	1.000	T	15	50
PDYN	5173	genome.wustl.edu	37	20	1961226	1961226	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1961226C>T	ENST00000217305.2	-	4	733	c.508G>A	c.(508-510)Gag>Aag	p.E170K	PDYN_ENST00000539905.1_Missense_Mutation_p.E170K|PDYN_ENST00000540134.1_Missense_Mutation_p.E170K|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	170					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGACCTGCTCCTTGGGGTCC	0.592													ENSG00000101327																																					0													106.0	105.0	106.0					20																	1961226		2203	4300	6503	SO:0001583	missense	0			-		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.508G>A	20.37:g.1961226C>T	ENSP00000217305:p.Glu170Lys		A8K0Q3	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept	p.E170K	ENST00000217305.2	37	c.508	CCDS13023.1	20	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812672	0.32053	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80653	-1.4;-1.4;-1.4	4.86	3.91	0.45181	.	0.703759	0.12343	N	0.477325	T	0.69958	0.3169	L	0.39514	1.22	0.24893	N	0.992151	B	0.15473	0.013	B	0.08055	0.003	T	0.52909	-0.8512	10	0.10377	T	0.69	-5.1618	10.0358	0.42129	0.0:0.8994:0.0:0.1006	.	170	P01213	PDYN_HUMAN	K	170	ENSP00000440185:E170K;ENSP00000442259:E170K;ENSP00000217305:E170K	ENSP00000217305:E170K	E	-	1	0	PDYN	1909226	0.001000	0.12720	0.991000	0.47740	0.965000	0.64279	0.335000	0.19806	1.246000	0.43901	0.491000	0.48974	GAG	-	PDYN	-	prints_Opioid_neupept		0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDYN	HGNC	protein_coding	OTTHUMT00000077569.2	0	0		39	39		0.00		C			1961226	-1	13		69		tier1	no_errors	ENST00000217305	ensembl	human	known	74_37	missense	15.85		SNP	0.932	T	13	69
ZNF831	128611	genome.wustl.edu	37	20	57829553	57829553	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:57829553G>T	ENST00000371030.2	+	5	4789	c.4789G>T	c.(4789-4791)Ggg>Tgg	p.G1597W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1597							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCCAGTATGGGTGTGGGGA	0.473													ENSG00000124203																																					0													83.0	79.0	81.0					20																	57829553		1909	4130	6039	SO:0001583	missense	0			-	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4789G>T	20.37:g.57829553G>T	ENSP00000360069:p.Gly1597Trp		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1597W	ENST00000371030.2	37	c.4789	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933168	0.52866	.	.	ENSG00000124203	ENST00000371030	T	0.05855	3.38	5.66	0.656	0.17844	.	0.899349	0.09536	N	0.788872	T	0.17789	0.0427	L	0.56769	1.78	0.09310	N	1	D	0.71674	0.998	D	0.71656	0.974	T	0.14783	-1.0460	10	0.87932	D	0	-4.9449	7.9091	0.29780	0.396:0.0:0.604:0.0	.	1597	Q5JPB2	ZN831_HUMAN	W	1597	ENSP00000360069:G1597W	ENSP00000360069:G1597W	G	+	1	0	ZNF831	57262948	0.004000	0.15560	0.000000	0.03702	0.035000	0.12851	0.578000	0.23773	0.315000	0.23110	0.650000	0.86243	GGG	-	ZNF831	-	NULL		0.473	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	0	0		36	36		0.00		G	NM_178457		57829553	+1	6		52		tier1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	10.34		SNP	0.000	T	6	52
AP2M1	1173	genome.wustl.edu	37	3	183897987	183897987	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183897987C>T	ENST00000292807.5	+	4	519	c.371C>T	c.(370-372)tCc>tTc	p.S124F	AP2M1_ENST00000411763.2_Missense_Mutation_p.S149F|AP2M1_ENST00000439647.1_Missense_Mutation_p.S124F|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.S124F	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	124					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACAGAATTCCGAGACAGGC	0.512													ENSG00000161203																																					0													61.0	62.0	62.0					3																	183897987		1949	4141	6090	SO:0001583	missense	0			-	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.371C>T	3.37:g.183897987C>T	ENSP00000292807:p.Ser124Phe		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.S124F	ENST00000292807.5	37	c.371	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895089	0.72639	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000448139;ENST00000439647;ENST00000432591;ENST00000431779	T;T;T;T	0.63580	-0.05;-0.05;-0.04;-0.05	5.38	5.38	0.77491	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.64997	1.995	0.80722	D	1	D;P;D	0.76494	0.999;0.459;0.999	D;B;D	0.69654	0.965;0.122;0.942	T	0.78775	-0.2072	10	0.87932	D	0	.	19.3311	0.94288	0.0:1.0:0.0:0.0	.	124;149;124	Q96CW1;E9PFW3;Q96CW1-2	AP2M1_HUMAN;.;.	F	124;149;124;64;111;126;124;124;124	ENSP00000371894:S124F;ENSP00000403362:S149F;ENSP00000292807:S124F;ENSP00000409081:S124F	ENSP00000292807:S124F	S	+	2	0	AP2M1	185380681	1.000000	0.71417	0.980000	0.43619	0.839000	0.47603	7.110000	0.77069	2.813000	0.96785	0.655000	0.94253	TCC	-	AP2M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.512	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	0	0		56	56		0.00		C	NM_004068		183897987	+1	20		47		tier1	no_errors	ENST00000292807	ensembl	human	known	74_37	missense	29.85		SNP	1.000	T	20	47
ST18	9705	genome.wustl.edu	37	8	53084844	53084844	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:53084844C>T	ENST00000276480.7	-	10	1260	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	193					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTACTTTCATTGTCATCA	0.438													ENSG00000147488																																					0													93.0	88.0	90.0					8																	53084844		2203	4300	6503	SO:0001583	missense	0			-	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.577G>A	8.37:g.53084844C>T	ENSP00000276480:p.Glu193Lys		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E193K	ENST00000276480.7	37	c.577	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116610	0.37339	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.52754	0.73;0.65	5.73	5.73	0.89815	.	0.577070	0.20455	N	0.092005	T	0.40272	0.1110	L	0.57536	1.79	0.45452	D	0.998424	B	0.32245	0.361	B	0.22386	0.039	T	0.19484	-1.0304	10	0.16420	T	0.52	-7.2499	13.1441	0.59450	0.0:0.9272:0.0:0.0728	.	193	O60284	ST18_HUMAN	K	193	ENSP00000276480:E193K;ENSP00000428521:E193K	ENSP00000276480:E193K	E	-	1	0	ST18	53247397	0.998000	0.40836	0.368000	0.25939	0.230000	0.25150	4.180000	0.58296	2.706000	0.92434	0.655000	0.94253	GAA	-	ST18	-	NULL		0.438	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	0	0		59	59		0.00		C			53084844	-1	10		49		tier1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	16.67		SNP	0.980	T	10	49
ACSL6	23305	genome.wustl.edu	37	5	131308476	131308476	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:131308476G>A	ENST00000379240.1	-	13	1357	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	ACSL6_ENST00000357096.1_Missense_Mutation_p.R327W|ACSL6_ENST00000543479.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379255.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379264.2_Missense_Mutation_p.R427W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R417W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R427W|ACSL6_ENST00000431707.1_Missense_Mutation_p.R382W|ACSL6_ENST00000544770.1_Missense_Mutation_p.R311W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R402W|ACSL6_ENST00000379246.1_Missense_Mutation_p.R413W			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	402					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCACTCCGGACCTCGGCT	0.438													ENSG00000164398																																					0													95.0	95.0	95.0					5																	131308476		2203	4300	6503	SO:0001583	missense	0			-	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1204C>T	5.37:g.131308476G>A	ENSP00000368542:p.Arg402Trp		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R427W	ENST00000379240.1	37	c.1279		5	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513331	0.64522	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.143269	0.64402	D	0.000006	T	0.50633	0.1627	M	0.79693	2.465	0.48975	D	0.999731	P;D;D;P;D;D;D	0.64830	0.943;0.992;0.994;0.954;0.971;0.992;0.992	P;P;P;P;P;P;P	0.55011	0.655;0.655;0.67;0.766;0.54;0.655;0.655	T	0.51340	-0.8718	10	0.66056	D	0.02	.	20.6437	0.99549	0.0:0.0:1.0:0.0	.	402;417;392;402;327;427;427	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	W	402;427;417;327;327;427;413;402;311;402;382;402	ENSP00000368551:R402W;ENSP00000368566:R427W;ENSP00000368574:R417W;ENSP00000349608:R327W;ENSP00000368557:R327W;ENSP00000296869:R427W;ENSP00000368548:R413W;ENSP00000368546:R402W;ENSP00000445154:R311W;ENSP00000368542:R402W;ENSP00000413329:R382W;ENSP00000442124:R402W	ENSP00000296869:R427W	R	-	1	2	ACSL6	131336375	1.000000	0.71417	0.862000	0.33874	0.002000	0.02628	6.075000	0.71261	2.890000	0.99128	0.650000	0.86243	CGG	-	ACSL6	-	pfam_AMP-dep_Synth/Lig		0.438	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	0	0		50	50		0.00		G	NM_015256		131308476	-1	21		50		tier1	no_errors	ENST00000296869	ensembl	human	known	74_37	missense	29.58		SNP	0.954	A	21	50
PCDH10	57575	genome.wustl.edu	37	4	134071955	134071955	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:134071955G>A	ENST00000264360.5	+	1	1486	c.660G>A	c.(658-660)ggG>ggA	p.G220G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	220	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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gaggtggcgggggagcaggCC	0.682													ENSG00000138650																																					0													35.0	37.0	36.0					4																	134071955		2203	4296	6499	SO:0001819	synonymous_variant	0			-	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.660G>A	4.37:g.134071955G>A			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G220	ENST00000264360.5	37	c.660	CCDS34063.1	4																																																																																			-	PCDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	0	0		22	22		0.00		G	NM_032961		134071955	+1	4		24		tier1	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	14.29		SNP	0.894	A	4	24
SLITRK5	26050	genome.wustl.edu	37	13	88328767	88328767	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:88328767C>T	ENST00000325089.6	+	2	1343	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P134L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	375	LRRNT.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGGAGTGTCCCACCGCGTGC	0.597													ENSG00000165300																																					0													69.0	62.0	64.0					13																	88328767		2203	4300	6503	SO:0001583	missense	0			-	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1124C>T	13.37:g.88328767C>T	ENSP00000366283:p.Pro375Leu		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P375L	ENST00000325089.6	37	c.1124	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973465	0.74246	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57752	0.38;0.38	5.85	5.85	0.93711	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.989;1.0	T	0.76427	-0.2963	9	.	.	.	-14.9223	17.6714	0.88218	0.0:1.0:0.0:0.0	.	134;375	B4DSH5;O94991	.;SLIK5_HUMAN	L	375;134	ENSP00000366283:P375L;ENSP00000442244:P134L	.	P	+	2	0	SLITRK5	87126768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.790000	0.85794	2.771000	0.95319	0.561000	0.74099	CCC	-	SLITRK5	-	NULL		0.597	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	0	0		26	26		0.00		C			88328767	+1	4		12		tier1	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	25.00		SNP	1.000	T	4	12
DNAL1	83544	genome.wustl.edu	37	14	74128706	74128706	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:74128706A>T	ENST00000553645.2	+	4	210	c.169A>T	c.(169-171)Aca>Tca	p.T57S	RNU6-240P_ENST00000516098.1_RNA|DNAL1_ENST00000554871.1_Missense_Mutation_p.T18S|DNAL1_ENST00000311089.3_5'UTR|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000540526.1_Missense_Mutation_p.T18S	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	57										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTCACTGTCTACAAACTGCAT	0.303													ENSG00000119661																																					0													47.0	43.0	44.0					14																	74128706		1806	4056	5862	SO:0001583	missense	0			-	BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.169A>T	14.37:g.74128706A>T	ENSP00000452037:p.Thr57Ser		B2RD38|Q5JPB7|Q9BS43	Missense_Mutation	SNP	NULL	p.T57S	ENST00000553645.2	37	c.169	CCDS45134.1	14	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065423	0.36470	.	.	ENSG00000119661	ENST00000553645;ENST00000555919;ENST00000554871;ENST00000540526	T;T;T;T	0.53640	0.61;3.13;0.61;0.61	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.04994	-0.135	0.58432	D	0.999993	B	0.09022	0.002	B	0.15052	0.012	T	0.11518	-1.0584	10	0.07030	T	0.85	-1.4709	14.0109	0.64495	1.0:0.0:0.0:0.0	.	57	Q4LDG9	DNAL1_HUMAN	S	57;18;18;18	ENSP00000452037:T57S;ENSP00000451101:T18S;ENSP00000451834:T18S;ENSP00000439695:T18S	ENSP00000310360:T57S	T	+	1	0	DNAL1	73198459	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.055000	0.89453	2.005000	0.58758	0.260000	0.18958	ACA	-	DL1	-	NULL		0.303	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DL1	HGNC	protein_coding	OTTHUMT00000414565.2	0	0		44	44		0.00		A	NM_031427		74128706	+1	5		20		tier1	no_errors	ENST00000553645	ensembl	human	known	74_37	missense	20.00		SNP	1.000	T	5	20
TMEM55A	55529	genome.wustl.edu	37	8	92032477	92032477	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:92032477G>A	ENST00000285419.3	-	3	584	c.270C>T	c.(268-270)ccC>ccT	p.P90P	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	90						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGCCTGTTGGGGGGTTTTTGA	0.398													ENSG00000155099																																					0													102.0	105.0	104.0					8																	92032477		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.270C>T	8.37:g.92032477G>A			B2R9H4|Q68CU2	Silent	SNP	pfam_Transmembrane_protein_55A/B	p.P90	ENST00000285419.3	37	c.270	CCDS6252.1	8																																																																																			-	TMEM55A	-	pfam_Transmembrane_protein_55A/B		0.398	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	0	0		94	94		0.00		G	NM_018710		92032477	-1	45		80		tier1	no_errors	ENST00000285419	ensembl	human	known	74_37	silent	35.71		SNP	0.978	A	45	80
TTN	7273	genome.wustl.edu	37	2	179403616	179403616	+	Intron	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179403616A>C	ENST00000591111.1	-	304	94291				TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGAAATAAAAGGACCAA	0.368													ENSG00000237298																																					0													44.0	41.0	42.0					2																	179403616		1033	2124	3157	SO:0001627	intron_variant	0			-	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94067-50T>G	2.37:g.179403616A>C			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	R	SNP	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			-	TTN-AS1	-	-		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		16	16		0.00		A	NM_133378		179403616	+1	8		21		tier1	no_errors	ENST00000415561	ensembl	human	known	74_37	rna	27.59		SNP	0.007	C	8	21
ERAP1	51752	genome.wustl.edu	37	5	96127834	96127834	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:96127834T>A	ENST00000443439.2	-	8	1316	c.1250A>T	c.(1249-1251)cAc>cTc	p.H417L	ERAP1_ENST00000296754.3_Missense_Mutation_p.H417L	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	417					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AGACACAGGGTGTGAGGAATT	0.363													ENSG00000164307																																					0													137.0	135.0	136.0					5																	96127834		2203	4300	6503	SO:0001583	missense	0			-	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1250A>T	5.37:g.96127834T>A	ENSP00000406304:p.His417Leu		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H417L	ENST00000443439.2	37	c.1250	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	T	29.3	4.992128	0.93167	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.03152	4.03;4.03	5.86	5.86	0.93980	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	M	0.91354	3.2	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.976;0.993;0.988	T	0.07083	-1.0791	10	0.87932	D	0	.	15.9283	0.79639	0.0:0.0:0.0:1.0	.	417;417;417	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	L	417	ENSP00000296754:H417L;ENSP00000406304:H417L	ENSP00000296754:H417L	H	-	2	0	ERAP1	96153590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.854000	0.55949	2.240000	0.73641	0.533000	0.62120	CAC	-	ERAP1	-	pfam_Peptidase_M1_N		0.363	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	0	0		77	77		0.00		T	NM_016442		96127834	-1	22		58		tier1	no_errors	ENST00000296754	ensembl	human	known	74_37	missense	27.16		SNP	1.000	A	22	58
SHROOM2	357	genome.wustl.edu	37	X	9863008	9863008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:9863008C>T	ENST00000380913.3	+	4	1150	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	354					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCCTGGCCCAGGCTCAGCC	0.677													ENSG00000146950																																					0													18.0	17.0	18.0					X																	9863008		2201	4300	6501	SO:0001587	stop_gained	0			-	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1060C>T	X.37:g.9863008C>T	ENSP00000370299:p.Gln354*		B9EIQ7	Nonsense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q354*	ENST00000380913.3	37	c.1060	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463844	0.84425	.	.	ENSG00000146950	ENST00000380913	.	.	.	4.51	2.74	0.32292	.	1.514700	0.04043	N	0.303533	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-2.7688	4.8155	0.13365	0.1687:0.6465:0.0:0.1848	.	.	.	.	X	354	.	ENSP00000370299:Q354X	Q	+	1	0	SHROOM2	9823008	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.059000	0.14322	0.250000	0.21479	0.600000	0.82982	CAG	-	SHROOM2	-	NULL		0.677	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	0	0		32	32		0.00		C	NM_001649		9863008	+1	18		21		tier1	no_errors	ENST00000380913	ensembl	human	known	74_37	nonsense	46.15		SNP	0.002	T	18	21
PDE6A	5145	genome.wustl.edu	37	5	149247673	149247673	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149247673C>T	ENST00000255266.5	-	18	2303	c.2184G>A	c.(2182-2184)tgG>tgA	p.W728*		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	728					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TCTGCACCTCCCAGGGTTTGG	0.572													ENSG00000132915																																					0													147.0	127.0	134.0					5																	149247673		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2184G>A	5.37:g.149247673C>T	ENSP00000255266:p.Trp728*		Q0P638	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.W728*	ENST00000255266.5	37	c.2184	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	42	9.644669	0.99227	.	.	ENSG00000132915	ENST00000255266	.	.	.	5.32	5.32	0.75619	.	0.312296	0.33854	N	0.004488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8707	0.86040	0.0:1.0:0.0:0.0	.	.	.	.	X	728	.	ENSP00000255266:W728X	W	-	3	0	PDE6A	149227866	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.084000	0.76866	2.655000	0.90218	0.462000	0.41574	TGG	-	PDE6A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.572	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	0	0		40	40		0.00		C			149247673	-1	16		33		tier1	no_errors	ENST00000255266	ensembl	human	known	74_37	nonsense	32.65		SNP	1.000	T	16	33
PHB	5245	genome.wustl.edu	37	17	47484200	47484200	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47484200C>T	ENST00000300408.3	-	6	599	c.527G>A	c.(526-528)gGg>gAg	p.G176E	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Intron|RP11-81K2.1_ENST00000576461.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	176					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAACTCCTTCCCGAAGGTCAG	0.562													ENSG00000167085																																					0													69.0	65.0	66.0					17																	47484200		2203	4300	6503	SO:0001583	missense	0			-		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.527G>A	17.37:g.47484200C>T	ENSP00000300408:p.Gly176Glu		B4DY47|Q4VBQ0	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.G176E	ENST00000300408.3	37	c.527	CCDS11548.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567332	0.86439	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	M	0.88377	2.95	0.80722	D	1	P	0.35894	0.526	P	0.45998	0.5	D	0.96508	0.9376	10	0.87932	D	0	.	17.9281	0.88989	0.0:1.0:0.0:0.0	.	176	P35232	PHB_HUMAN	E	176	ENSP00000300408:G176E;ENSP00000393320:G176E;ENSP00000426433:G176E;ENSP00000422182:G176E;ENSP00000407828:G176E	ENSP00000300408:G176E	G	-	2	0	PHB	44839199	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.790000	0.85794	2.523000	0.85059	0.655000	0.94253	GGG	-	PHB	-	pfam_Band_7,smart_Band_7,prints_Prohibitin		0.562	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	HGNC	protein_coding	OTTHUMT00000258826.1	0	0		58	58		0.00		C	NM_002634		47484200	-1	21		40		tier1	no_errors	ENST00000300408	ensembl	human	known	74_37	missense	34.43		SNP	1.000	T	21	40
TCF20	6942	genome.wustl.edu	37	22	42607518	42607518	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:42607518G>A	ENST00000359486.3	-	1	3930	c.3794C>T	c.(3793-3795)cCc>cTc	p.P1265L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1265L|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTCTTACTGGGAATGGGAGA	0.448													ENSG00000100207																																					0													162.0	149.0	153.0					22																	42607518		2203	4300	6503	SO:0001583	missense	0			-	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3794C>T	22.37:g.42607518G>A	ENSP00000352463:p.Pro1265Leu		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.P1265L	ENST00000359486.3	37	c.3794	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779991	0.70222	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	D;D	0.88664	-2.41;-2.38	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.93171	0.7825	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.92955	0.6384	10	0.62326	D	0.03	-15.247	19.6556	0.95837	0.0:0.0:1.0:0.0	.	1265;1265	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	L	1265	ENSP00000352463:P1265L;ENSP00000335561:P1265L	ENSP00000335561:P1265L	P	-	2	0	TCF20	40937462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.935000	0.92923	2.882000	0.98803	0.655000	0.94253	CCC	-	TCF20	-	NULL		0.448	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	0	0		35	35		0.00		G	NM_181492		42607518	-1	21		25		tier1	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	45.65		SNP	1.000	A	21	25
A2M	2	genome.wustl.edu	37	12	9252103	9252103	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:9252103G>A	ENST00000318602.7	-	14	1882	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	525					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGATTGAGATGGAAAAATGGC	0.433													ENSG00000175899																																					0													54.0	52.0	53.0					12																	9252103		1910	4142	6052	SO:0001819	synonymous_variant	0			-	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1575C>T	12.37:g.9252103G>A			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.S525	ENST00000318602.7	37	c.1575	CCDS44827.1	12																																																																																			-	A2M	-	pfam_A2M_N_2		0.433	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	0	0		86	86		0.00		G	NM_000014		9252103	-1	15		59		tier1	no_errors	ENST00000318602	ensembl	human	known	74_37	silent	20.27		SNP	0.000	A	15	59
CALCB	797	genome.wustl.edu	37	11	15098911	15098911	+	Missense_Mutation	SNP	G	G	A	rs534656970		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:15098911G>A	ENST00000533448.1	+	4	415	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	CALCB_ENST00000324229.6_Missense_Mutation_p.G102S|CALCB_ENST00000523376.1_Missense_Mutation_p.G113S			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	102					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CAGATCAGGGGGCATGGTGAA	0.567													ENSG00000175868	G|||	1	0.000199681	0.0008	0.0	5008	,	,		15277	0.0		0.0	False		,,,				2504	0.0																0													58.0	55.0	56.0					11																	15098911		2200	4294	6494	SO:0001583	missense	0			-		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.304G>A	11.37:g.15098911G>A	ENSP00000433490:p.Gly102Ser		A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.G102S	ENST00000533448.1	37	c.304	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803497	0.70682	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.21361	2.01;2.01;2.01	4.87	4.87	0.63330	Calcitonin peptide-like (1);	0.406589	0.21276	N	0.077222	T	0.26629	0.0651	N	0.14661	0.345	0.41894	D	0.990389	D	0.76494	0.999	D	0.68192	0.956	T	0.03597	-1.1021	10	0.07813	T	0.8	-2.6524	18.3705	0.90405	0.0:0.0:1.0:0.0	.	102	P10092	CALCB_HUMAN	S	113;102;102	ENSP00000428882:G113S;ENSP00000346017:G102S;ENSP00000433490:G102S	ENSP00000346017:G102S	G	+	1	0	CALCB	15055487	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	9.406000	0.97321	2.390000	0.81377	0.462000	0.41574	GGC	-	CALCB	-	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep		0.567	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	0	0		46	46		0.00		G	NM_000728		15098911	+1	13		54		tier1	no_errors	ENST00000324229	ensembl	human	known	74_37	missense	19.40		SNP	1.000	A	13	54
PLEKHG4	25894	genome.wustl.edu	37	16	67318357	67318357	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:67318357G>A	ENST00000360461.5	+	11	4224	c.1689G>A	c.(1687-1689)agG>agA	p.R563R	PLEKHG4_ENST00000427155.2_Silent_p.R563R|PLEKHG4_ENST00000450733.1_Silent_p.R482R|PLEKHG4_ENST00000379344.3_Silent_p.R563R	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	563							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AGCTCTTCAGGGAGGTGGGTG	0.617													ENSG00000196155																																					0													23.0	28.0	27.0					16																	67318357		2195	4297	6492	SO:0001819	synonymous_variant	0			-	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1689G>A	16.37:g.67318357G>A			Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R563	ENST00000360461.5	37	c.1689	CCDS32466.1	16																																																																																			-	PLEKHG4	-	NULL		0.617	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	0	0		29	29		0.00		G	NM_015432		67318357	+1	14		10		tier1	no_errors	ENST00000360461	ensembl	human	known	74_37	silent	58.33		SNP	0.990	A	14	10
TNK2	10188	genome.wustl.edu	37	3	195611735	195611735	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:195611735C>T	ENST00000333602.6	-	4	1021	c.404G>A	c.(403-405)gGt>gAt	p.G135D	TNK2_ENST00000392400.1_Missense_Mutation_p.G135D|TNK2_ENST00000316664.3_Missense_Mutation_p.G135D|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000381916.2_Missense_Mutation_p.G198D|TNK2_ENST00000428187.1_Missense_Mutation_p.G167D	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GCCAAAGGAACCATCACCCAG	0.701													ENSG00000061938																																					0													37.0	36.0	37.0					3																	195611735		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.404G>A	3.37:g.195611735C>T	ENSP00000329425:p.Gly135Asp		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G198D	ENST00000333602.6	37	c.593	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661149	0.67700	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	H	0.96777	3.88	0.80722	D	1	B;B;D;B	0.55385	0.03;0.019;0.971;0.061	B;B;P;B	0.51657	0.03;0.047;0.676;0.281	D	0.98985	1.0806	10	0.87932	D	0	.	16.8724	0.86043	0.0:1.0:0.0:0.0	.	135;135;198;167	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	D	135;198;167;135;135	ENSP00000329425:G135D;ENSP00000371341:G198D;ENSP00000392546:G167D;ENSP00000376201:G135D;ENSP00000323216:G135D	ENSP00000323216:G135D	G	-	2	0	TNK2	197096132	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.108000	0.77055	2.402000	0.81655	0.407000	0.27541	GGT	-	TNK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.701	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	0	0		61	61		0.00		C	NM_005781		195611735	-1	27		59		tier1	no_errors	ENST00000381916	ensembl	human	known	74_37	missense	31.40		SNP	1.000	T	27	59
FCRL3	115352	genome.wustl.edu	37	1	157648536	157648536	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157648536C>T	ENST00000368184.3	-	15	2460	c.2169G>A	c.(2167-2169)gaG>gaA	p.E723E	FCRL3_ENST00000368186.5_Silent_p.E723E|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	723						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GTGGTACATTCTCATAGTTTT	0.502													ENSG00000160856																																					0													185.0	161.0	169.0					1																	157648536		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2169G>A	1.37:g.157648536C>T			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E729	ENST00000368184.3	37	c.2187	CCDS1167.1	1																																																																																			-	FCRL3	-	NULL		0.502	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	0	0		75	75		0.00		C	NM_052939		157648536	-1	9		81		tier1	no_errors	ENST00000492769	ensembl	human	known	74_37	silent	10.00		SNP	0.989	T	9	81
OGT	8473	genome.wustl.edu	37	X	70775130	70775130	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70775130C>T	ENST00000373719.3	+	7	1036	c.819C>T	c.(817-819)ggC>ggT	p.G273G	OGT_ENST00000373701.3_Silent_p.G263G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	273					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATGAGCAAGGCCTGATAGATC	0.483													ENSG00000147162																																					0													119.0	90.0	100.0					X																	70775130		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.819C>T	X.37:g.70775130C>T			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G273	ENST00000373719.3	37	c.819	CCDS14414.1	X																																																																																			-	OGT	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.483	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	0	0		26	26		0.00		C	NM_003605, NM_181672		70775130	+1	36		10		tier1	no_errors	ENST00000373719	ensembl	human	known	74_37	silent	78.26		SNP	0.999	T	36	10
RAD51B	5890	genome.wustl.edu	37	14	69077894	69077894	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:69077894C>T	ENST00000487861.1	+	11	1285	c.1208C>T	c.(1207-1209)tCt>tTt	p.S403F	RAD51B_ENST00000488612.1_Intron|RAD51B_ENST00000390683.3_Intron	NM_002877.5	NP_002868.1	O15315	RA51B_HUMAN	RAD51 paralog B	0					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						ACTGTCCTCTCTTCTGCTCTT	0.498								Direct reversal of damage					ENSG00000182185																																					0																																										SO:0001583	missense	0			-	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487861.1:c.1208C>T	14.37:g.69077894C>T	ENSP00000419881:p.Ser403Phe		O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	pfam_D_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_D_helicase_DnaB-like_C,pfam_D_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pfscan_D_recomb_RecA/RadB_ATP-bd	p.S403F	ENST00000487861.1	37	c.1208		14	.	.	.	.	.	.	.	.	.	.	C	5.598	0.295063	0.10622	.	.	ENSG00000182185	ENST00000487861	T	0.47528	0.84	2.87	-0.614	0.11590	.	.	.	.	.	T	0.22666	0.0547	.	.	.	0.09310	N	1	B	0.27853	0.191	B	0.35550	0.205	T	0.32481	-0.9905	8	0.02654	T	1	.	4.942	0.13971	0.5036:0.3238:0.1726:0.0	.	403	C9JYJ0	.	F	403	ENSP00000419881:S403F	ENSP00000419881:S403F	S	+	2	0	RAD51B	68147647	0.000000	0.05858	0.000000	0.03702	0.421000	0.31385	-0.536000	0.06135	-0.119000	0.11830	0.455000	0.32223	TCT	-	RAD51B	-	NULL		0.498	RAD51B-001	PUTATIVE	basic	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349060.1	0	0		117	117		0.00		C			69077894	+1	57		29		tier1	no_errors	ENST00000487861	ensembl	human	putative	74_37	missense	65.52		SNP	0.000	T	57	29
TMPRSS15	5651	genome.wustl.edu	37	21	19687538	19687538	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:19687538C>T	ENST00000284885.3	-	17	1990	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	653	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACACACTCTCCATTTTTACAT	0.393													ENSG00000154646																																					0													172.0	142.0	152.0					21																	19687538		2203	4300	6503	SO:0001583	missense	0			-		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1957G>A	21.37:g.19687538C>T	ENSP00000284885:p.Gly653Arg		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.G653R	ENST00000284885.3	37	c.1957	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903591	0.52333	.	.	ENSG00000154646	ENST00000284885	D	0.92805	-3.11	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96128	0.8738	M	0.83603	2.65	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.95847	0.8871	9	.	.	.	.	16.4399	0.83896	0.0:1.0:0.0:0.0	.	653	P98073	ENTK_HUMAN	R	653	ENSP00000284885:G653R	.	G	-	1	0	TMPRSS15	18609409	1.000000	0.71417	0.981000	0.43875	0.084000	0.17831	2.997000	0.49457	2.752000	0.94435	0.650000	0.86243	GGA	-	TMPRSS15	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.393	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	0	0		36	36		0.00		C	NM_002772		19687538	-1	5		30		tier1	no_errors	ENST00000284885	ensembl	human	known	74_37	missense	14.29		SNP	0.997	T	5	30
CMPK2	129607	genome.wustl.edu	37	2	6991588	6991588	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:6991588G>A	ENST00000256722.5	-	4	1218	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000404168.1_Missense_Mutation_p.R407C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	407					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TACTTTTGACGAAACACACTG	0.542													ENSG00000134326																																					0													108.0	111.0	110.0					2																	6991588		2085	4218	6303	SO:0001583	missense	0			-		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.1219C>T	2.37:g.6991588G>A	ENSP00000256722:p.Arg407Cys		A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,pirsf_UMP-CMP_kinase_mit	p.R407C	ENST00000256722.5	37	c.1219	CCDS42648.1	2	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384803	0.61956	.	.	ENSG00000134326	ENST00000256722;ENST00000404168	D	0.94417	-3.42	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.97306	0.9119	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97998	1.0358	10	0.87932	D	0	-10.6493	18.552	0.91068	0.0:0.0:1.0:0.0	.	407	Q5EBM0	CMPK2_HUMAN	C	407	ENSP00000256722:R407C	ENSP00000256722:R407C	R	-	1	0	CMPK2	6909039	1.000000	0.71417	0.997000	0.53966	0.642000	0.38348	1.939000	0.40213	2.446000	0.82766	0.462000	0.41574	CGT	-	CMPK2	-	pirsf_UMP-CMP_kinase_mit		0.542	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CMPK2	HGNC	protein_coding	OTTHUMT00000323339.2	0	0		44	44		0.00		G	NM_207315		6991588	-1	12		39		tier1	no_errors	ENST00000404168	ensembl	human	putative	74_37	missense	23.53		SNP	1.000	A	12	39
TMC2	117532	genome.wustl.edu	37	20	2539171	2539171	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:2539171G>A	ENST00000358864.1	+	3	167	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	51	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCAGGCGCGGAGCTCAGCGA	0.672													ENSG00000149488																																					0													7.0	9.0	8.0					20																	2539171		2119	4156	6275	SO:0001583	missense	0			-	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.152G>A	20.37:g.2539171G>A	ENSP00000351732:p.Gly51Glu		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.G51E	ENST00000358864.1	37	c.152	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	6.828	0.521918	0.13005	.	.	ENSG00000149488	ENST00000358864	T	0.63744	-0.06	4.39	2.43	0.29744	.	0.636281	0.15825	N	0.242817	T	0.42854	0.1221	L	0.47716	1.5	0.09310	N	1	P;B	0.37330	0.59;0.001	B;B	0.30646	0.118;0.0	T	0.22173	-1.0224	10	0.08381	T	0.77	0.1792	5.736	0.18067	0.2354:0.0:0.7646:0.0	.	51;51	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	E	51	ENSP00000351732:G51E	ENSP00000351732:G51E	G	+	2	0	TMC2	2487171	0.005000	0.15991	0.036000	0.18154	0.005000	0.04900	0.455000	0.21843	1.156000	0.42514	0.455000	0.32223	GGA	-	TMC2	-	NULL		0.672	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	0	0		52	52		0.00		G			2539171	+1	19		52		tier1	no_errors	ENST00000358864	ensembl	human	known	74_37	missense	26.76		SNP	0.026	A	19	52
PLA2G4B	100137049	genome.wustl.edu	37	15	42139646	42139646	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:42139646C>T	ENST00000452633.1	+	20	2411	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S	JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.P918S|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.P687S|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.P918S			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	687	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|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)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CTTCTCCGACCCCACCTGCCC	0.682													ENSG00000168970																																					0													81.0	88.0	85.0					15																	42139646		2203	4300	6503	SO:0001583	missense	0			-	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.2059C>T	15.37:g.42139646C>T	ENSP00000396045:p.Pro687Ser		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.P918S	ENST00000452633.1	37	c.2752	CCDS45241.1	15	.	.	.	.	.	.	.	.	.	.	.	11.41	1.629381	0.28978	.	.	ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000458483;ENST00000452633	T;T;T	0.04156	3.69;3.69;3.69	5.09	5.09	0.68999	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.191836	0.34750	N	0.003720	T	0.14098	0.0341	.	.	.	0.29262	N	0.87124	D;D	0.89917	1.0;0.986	D;P	0.97110	1.0;0.73	T	0.03887	-1.0995	9	0.39692	T	0.17	-24.5286	6.9802	0.24698	0.1739:0.7383:0.0:0.0878	.	687;918	P0C869;P0C869-6	PA24B_HUMAN;.	S	918;687;687	ENSP00000371886:P918S;ENSP00000416610:P687S;ENSP00000396045:P687S	ENSP00000371886:P918S	P	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39926938	0.932000	0.31603	0.867000	0.34043	0.044000	0.14063	0.776000	0.26704	2.551000	0.86045	0.561000	0.74099	CCC	-	JMJD7-PLA2G4B	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.682	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000345969.1	0	0		23	23		0.00		C	NM_001114633		42139646	+1	10		15		tier1	no_errors	ENST00000382448	ensembl	human	known	74_37	missense	40.00		SNP	0.898	T	10	15
CHL1	10752	genome.wustl.edu	37	3	432467	432467	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:432467G>A	ENST00000256509.2	+	21	3196	c.2554G>A	c.(2554-2556)Gac>Aac	p.D852N	CHL1_ENST00000397491.2_Missense_Mutation_p.D836N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTTCCAAAGGACAGAGTACA	0.383													ENSG00000134121																																					0													115.0	117.0	116.0					3																	432467		2203	4300	6503	SO:0001583	missense	0			-	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2554G>A	3.37:g.432467G>A	ENSP00000256509:p.Asp852Asn		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	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.D852N	ENST00000256509.2	37	c.2554	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160305	0.57368	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.53857	0.6;0.6	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.207467	0.49916	D	0.000132	T	0.50973	0.1647	L	0.36672	1.1	0.44439	D	0.997369	B;B;B	0.21688	0.035;0.035;0.059	B;B;B	0.33890	0.05;0.05;0.172	T	0.47649	-0.9101	10	0.49607	T	0.09	.	17.7184	0.88344	0.0:0.0:1.0:0.0	.	836;836;852	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	N	852;836	ENSP00000256509:D852N;ENSP00000380628:D836N	ENSP00000256509:D852N	D	+	1	0	CHL1	407467	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.388000	0.59633	2.618000	0.88619	0.591000	0.81541	GAC	-	CHL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	0	0		55	55		0.00		G	NM_006614		432467	+1	19		62		tier1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	23.46		SNP	0.999	A	19	62
CACNB2	783	genome.wustl.edu	37	10	18827133	18827133	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:18827133G>A	ENST00000324631.7	+	13	1387	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	CACNB2_ENST00000377331.2_Missense_Mutation_p.E391K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.E389K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E419K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E350K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E415K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E193K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E395K|CACNB2_ENST00000396576.2_Missense_Mutation_p.E388K	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	443					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GATCTTGGATGAGAACCAGCT	0.567													ENSG00000165995																																					0													170.0	150.0	157.0					10																	18827133		2203	4300	6503	SO:0001583	missense	0			-	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1327G>A	10.37:g.18827133G>A	ENSP00000320025:p.Glu443Lys		A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.E443K	ENST00000324631.7	37	c.1327	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.768476	0.96914	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;T;D;D;D;D;D;D	0.83075	-1.68;-1.68;0.95;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.6	5.6	0.85130	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.92123	0.7503	M	0.84156	2.68	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.989;0.971;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0;0.999;0.989	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.954;0.991;0.999;1.0;0.989;1.0;0.951;1.0;0.999;0.997;0.997;0.954	D	0.92393	0.5923	10	0.62326	D	0.03	-21.7914	19.6154	0.95632	0.0:0.0:1.0:0.0	.	357;415;193;395;365;389;399;350;391;415;405;419;443	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	K	443;419;193;415;391;388;350;389;395	ENSP00000320025:E443K;ENSP00000344474:E419K;ENSP00000366545:E193K;ENSP00000282343:E415K;ENSP00000366548:E391K;ENSP00000379821:E388K;ENSP00000366536:E350K;ENSP00000366546:E389K;ENSP00000366532:E395K	ENSP00000282343:E415K	E	+	1	0	CACNB2	18867139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.652000	0.90054	0.650000	0.86243	GAG	-	CACNB2	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu		0.567	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2	0	0		74	74		0.00		G	NM_000724		18827133	+1	21		64		tier1	no_errors	ENST00000324631	ensembl	human	known	74_37	missense	24.71		SNP	1.000	A	21	64
SPAM1	6677	genome.wustl.edu	37	7	123594244	123594244	+	Missense_Mutation	SNP	G	G	A	rs113752093		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:123594244G>A	ENST00000439500.1	+	4	1233	c.620G>A	c.(619-621)gGa>gAa	p.G207E	SPAM1_ENST00000402183.2_Missense_Mutation_p.G207E|SPAM1_ENST00000223028.7_Missense_Mutation_p.G207E|SPAM1_ENST00000460182.1_Missense_Mutation_p.G207E|SPAM1_ENST00000340011.5_Missense_Mutation_p.G207E	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	207					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATAAAATTGGGAAAATTACTT	0.383													ENSG00000106304																																					0													74.0	80.0	78.0					7																	123594244		2203	4300	6503	SO:0001583	missense	0			-	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.620G>A	7.37:g.123594244G>A	ENSP00000402123:p.Gly207Glu		Q8TC30	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.G207E	ENST00000439500.1	37	c.620	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592876	0.66219	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.17	5.28	0.74379	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.052947	0.85682	D	0.000000	T	0.71256	0.3318	H	0.94886	3.595	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81258	-0.1014	9	.	.	.	-29.7007	16.5077	0.84277	0.0:0.1308:0.8692:0.0	.	207;207	Q8TC30;P38567	.;HYALP_HUMAN	E	207	ENSP00000386028:G207E;ENSP00000417934:G207E;ENSP00000345849:G207E;ENSP00000402123:G207E;ENSP00000223028:G207E	.	G	+	2	0	SPAM1	123381480	1.000000	0.71417	0.771000	0.31576	0.308000	0.27856	3.993000	0.56987	1.585000	0.49928	0.655000	0.94253	GGA	-	SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase		0.383	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	0	0		73	73		0.00		G			123594244	+1	45		53		tier1	no_errors	ENST00000340011	ensembl	human	known	74_37	missense	45.92		SNP	1.000	A	45	53
TNPO1	3842	genome.wustl.edu	37	5	72185695	72185695	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:72185695T>A	ENST00000337273.5	+	14	2038	c.1612T>A	c.(1612-1614)Ttt>Att	p.F538I	TNPO1_ENST00000523768.1_Missense_Mutation_p.F488I|TNPO1_ENST00000454282.1_Missense_Mutation_p.F488I|TNPO1_ENST00000506351.2_Missense_Mutation_p.F530I	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	538					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GGTCTTTGCATTTAGTAAATA	0.368													ENSG00000083312																																					0													120.0	116.0	118.0					5																	72185695		2203	4300	6503	SO:0001583	missense	0			-	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1612T>A	5.37:g.72185695T>A	ENSP00000336712:p.Phe538Ile		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F538I	ENST00000337273.5	37	c.1612	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	T	32	5.188181	0.94923	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	M	0.90759	3.145	0.80722	D	1	D;D	0.63046	0.974;0.992	P;P	0.60117	0.869;0.77	D	0.85471	0.1173	10	0.87932	D	0	-11.0209	15.3236	0.74141	0.0:0.0:0.0:1.0	.	488;538	Q92973-3;Q92973	.;TNPO1_HUMAN	I	538;488;488;530;49	ENSP00000336712:F538I;ENSP00000398524:F488I;ENSP00000428899:F488I;ENSP00000425118:F530I	ENSP00000336712:F538I	F	+	1	0	TNPO1	72221451	1.000000	0.71417	0.954000	0.39281	0.954000	0.61252	7.652000	0.83633	2.091000	0.63221	0.528000	0.53228	TTT	-	TNPO1	-	superfamily_ARM-type_fold		0.368	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	0	0		56	56		0.00		T	NM_002270		72185695	+1	23		48		tier1	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	32.39		SNP	1.000	A	23	48
ZNF322	79692	genome.wustl.edu	37	6	26638375	26638375	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:26638375A>T	ENST00000415922.2	-	4	1052	c.407T>A	c.(406-408)tTt>tAt	p.F136Y	RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000461899.1_5'Flank|ZNF322_ENST00000471278.1_Missense_Mutation_p.F136Y	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	136					regulation of transcription, DNA-templated (GO:0006355)|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)										ACTCTGACCAAAATTCTTGCC	0.413													ENSG00000181315																																					0													31.0	33.0	32.0					6																	26638375		2200	4289	6489	SO:0001583	missense	0			-	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.407T>A	6.37:g.26638375A>T	ENSP00000418897:p.Phe136Tyr		A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F136Y	ENST00000415922.2	37	c.407	CCDS4617.1	6	.	.	.	.	.	.	.	.	.	.	a	13.62	2.290399	0.40494	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.40476	1.03;1.03	4.86	3.61	0.41365	.	0.000000	0.42548	D	0.000697	T	0.44456	0.1294	M	0.74546	2.27	0.30612	N	0.759352	D	0.67145	0.996	D	0.66196	0.942	T	0.45571	-0.9252	10	0.66056	D	0.02	-18.9339	4.6857	0.12757	0.7076:0.1941:0.0983:0.0	.	136	Q6U7Q0	ZN322_HUMAN	Y	136	ENSP00000418897:F136Y;ENSP00000419728:F136Y	ENSP00000418897:F136Y	F	-	2	0	ZNF322	26746354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.546000	0.60705	2.166000	0.68216	0.533000	0.62120	TTT	-	ZNF322	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF322	HGNC	protein_coding	OTTHUMT00000040126.2	0	0		37	37		0.00		A	NM_024639		26638375	-1	10		36		tier1	no_errors	ENST00000415922	ensembl	human	known	74_37	missense	21.74		SNP	0.997	T	10	36
CNTN4	152330	genome.wustl.edu	37	3	3097884	3097884	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:3097884A>T	ENST00000397461.1	+	24	3445	c.3061A>T	c.(3061-3063)Aca>Tca	p.T1021S	CNTN4_ENST00000427331.1_Missense_Mutation_p.T1021S|CNTN4_ENST00000358480.3_Missense_Mutation_p.T802S|CNTN4_ENST00000397459.2_Missense_Mutation_p.T693S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.T1021S|CNTN4_ENST00000448906.2_Missense_Mutation_p.T693S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1021					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATTTCCCTCACAGCTAGGTC	0.403													ENSG00000144619																																					0													127.0	112.0	117.0					3																	3097884		2203	4300	6503	SO:0001583	missense	0			-	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.3061A>T	3.37:g.3097884A>T	ENSP00000380602:p.Thr1021Ser		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T1021S	ENST00000397461.1	37	c.3061	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792087	0.50102	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57436	0.46;0.46;0.46;0.46;0.4;0.4	5.5	5.5	0.81552	.	0.243724	0.40064	N	0.001186	T	0.49218	0.1544	L	0.47716	1.5	0.80722	D	1	B;B	0.25719	0.132;0.067	B;B	0.26416	0.069;0.015	T	0.48281	-0.9049	10	0.54805	T	0.06	.	15.6012	0.76626	1.0:0.0:0.0:0.0	.	1020;1021	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	S	1021;1021;1021;802;693;693	ENSP00000396010:T1021S;ENSP00000380602:T1021S;ENSP00000413642:T1021S;ENSP00000351267:T802S;ENSP00000380600:T693S;ENSP00000392077:T693S	ENSP00000351267:T802S	T	+	1	0	CNTN4	3072884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.167000	0.89668	2.094000	0.63399	0.482000	0.46254	ACA	-	CNTN4	-	NULL		0.403	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	0	0		79	79		0.00		A			3097884	+1	29		58		tier1	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	33.33		SNP	1.000	T	29	58
YEATS2	55689	genome.wustl.edu	37	3	183526833	183526833	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183526833C>T	ENST00000305135.5	+	30	4281				YEATS2-AS1_ENST00000609871.1_RNA|YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTGTCCCTTCTTGCCAGCAA	0.418													ENSG00000233885																																					0													124.0	112.0	115.0					3																	183526833		1568	3582	5150	SO:0001627	intron_variant	0			-	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.4087-52C>T	3.37:g.183526833C>T			A7E2B9|D3DNS9|Q641P6|Q9NW96	R	SNP	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			-	YEATS2-AS1	-	-		0.418	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2-AS1	HGNC	protein_coding	OTTHUMT00000346507.2	0	0		71	71		0.00		C	NM_018023		183526833	-1	28		46		tier1	no_errors	ENST00000425008	ensembl	human	known	74_37	rna	36.84		SNP	0.006	T	28	46
ERCC4	2072	genome.wustl.edu	37	16	14024750	14024750	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:14024750G>A	ENST00000311895.7	+	5	982				CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA|ERCC4_ENST00000575156.1_Intron	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4						DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GAATTCAGGTGGGAGATTAAA	0.348			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				ENSG00000262732																											yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													36.0	36.0	36.0					16																	14024750		2197	4299	6496	SO:0001627	intron_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	-	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.973+3G>A	16.37:g.14024750G>A			A5PKV6|A8K111|O00140|Q8TD83	R	SNP	-	NULL	ENST00000311895.7	37	NULL	CCDS32390.1	16																																																																																			-	CTD-2135D7.2	-	-		0.348	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262732	Clone_based_vega_gene	protein_coding	OTTHUMT00000109634.2	0	0		33	33		0.00		G	NM_005236		14024750	-1	18		32		tier1	no_errors	ENST00000575137	ensembl	human	known	74_37	rna	36.00		SNP	0.087	A	18	32
B4GALT5	9334	genome.wustl.edu	37	20	48260071	48260071	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:48260071G>A	ENST00000371711.4	-	4	668	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	161					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACCTTCCACCGAGGCATGCAA	0.478													ENSG00000158470																																					0													157.0	133.0	141.0					20																	48260071		2203	4300	6503	SO:0001583	missense	0			-	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.481C>T	20.37:g.48260071G>A	ENSP00000360776:p.Arg161Trp		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.R161W	ENST00000371711.4	37	c.481	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862092	0.91511	.	.	ENSG00000158470	ENST00000371711	T	0.27256	1.68	5.46	4.5	0.54988	.	0.050980	0.85682	D	0.000000	T	0.53626	0.1808	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.65140	0.932	T	0.62950	-0.6745	10	0.62326	D	0.03	-14.755	15.6896	0.77439	0.0:0.0:0.8621:0.1379	.	161	O43286	B4GT5_HUMAN	W	161	ENSP00000360776:R161W	ENSP00000360776:R161W	R	-	1	2	B4GALT5	47693478	1.000000	0.71417	0.970000	0.41538	0.965000	0.64279	8.011000	0.88624	1.279000	0.44446	0.561000	0.74099	CGG	-	B4GALT5	-	pfam_Galactosyl_T_C		0.478	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3	0	0		50	50		0.00		G	NM_004776		48260071	-1	30		42		tier1	no_errors	ENST00000371711	ensembl	human	known	74_37	missense	41.67		SNP	1.000	A	30	42
OR56B1	387748	genome.wustl.edu	37	11	5758028	5758028	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5758028C>T	ENST00000317121.3	+	1	348	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	94						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)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGGCCATCTTCTGGTTTGATG	0.473													ENSG00000181023																																					0													185.0	163.0	170.0					11																	5758028		2201	4297	6498	SO:0001819	synonymous_variant	0			-	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.282C>T	11.37:g.5758028C>T			B2RNY6|B3KV42|Q6IF76	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F94	ENST00000317121.3	37	c.282	CCDS31395.1	11																																																																																			-	OR56B1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.473	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	HGNC	protein_coding	OTTHUMT00000143354.1	0	0		45	45		0.00		C	NM_001005180		5758028	+1	9		33		tier1	no_errors	ENST00000317121	ensembl	human	known	74_37	silent	21.43		SNP	0.988	T	9	33
PCLO	27445	genome.wustl.edu	37	7	82538309	82538309	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82538309C>T	ENST00000333891.9	-	8	13658	c.13321G>A	c.(13321-13323)Gaa>Aaa	p.E4441K	PCLO_ENST00000423517.2_Missense_Mutation_p.E4441K	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						CAATCTGTTTCCTCACGACGC	0.458													ENSG00000186472																																					0													96.0	86.0	89.0					7																	82538309		1931	4146	6077	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.13321G>A	7.37:g.82538309C>T	ENSP00000334319:p.Glu4441Lys			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.E4441K	ENST00000333891.9	37	c.13321	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803257	0.70682	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.33654	1.4;1.41	5.39	5.39	0.77823	.	.	.	.	.	T	0.61578	0.2358	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.64711	-0.6343	9	0.87932	D	0	.	19.5274	0.95212	0.0:1.0:0.0:0.0	.	4441;4441	Q9Y6V0-5;Q9Y6V0-6	.;.	K	4441	ENSP00000334319:E4441K;ENSP00000388393:E4441K	ENSP00000334319:E4441K	E	-	1	0	PCLO	82376245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.699000	0.92147	0.591000	0.81541	GAA	-	PCLO	-	NULL		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		54	54		0.00		C	NM_014510		82538309	-1	35		51		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	40.70		SNP	1.000	T	35	51
TTN	7273	genome.wustl.edu	37	2	179638991	179638991	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179638991C>T	ENST00000591111.1	-	30	7224	c.7000G>A	c.(7000-7002)Gga>Aga	p.G2334R	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2288R|TTN_ENST00000460472.2_Missense_Mutation_p.G2288R|TTN_ENST00000589042.1_Missense_Mutation_p.G2334R|TTN_ENST00000342992.6_Missense_Mutation_p.G2334R|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2334R|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2288R			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 12.				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)			CTGTATTCTCCCTGGTCCTCC	0.433													ENSG00000155657																																					0													153.0	140.0	144.0					2																	179638991		2203	4300	6503	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.7000G>A	2.37:g.179638991C>T	ENSP00000465570:p.Gly2334Arg		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.G2334R	ENST00000591111.1	37	c.7000		2	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850053	0.51270	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90490	0.7021	M	0.89478	3.035	0.48341	D	0.999638	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	0.91717	0.5386	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334R;ENSP00000434586:G2288R;ENSP00000340554:G2288R;ENSP00000352154:G2288R;ENSP00000354117:G2334R	ENSP00000340554:G2288R	G	-	1	0	TTN	179347236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA	-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		25	25		0.00		C	NM_133378		179638991	-1	22		28		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	44.00		SNP	1.000	T	22	28
COASY	80347	genome.wustl.edu	37	17	40717723	40717723	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:40717723C>T	ENST00000393818.2	+	8	1988	c.1532C>T	c.(1531-1533)gCt>gTt	p.A511V	MLX_ENST00000435881.2_5'Flank|COASY_ENST00000421097.2_Missense_Mutation_p.A511V|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000420359.1_Missense_Mutation_p.A511V|COASY_ENST00000449624.1_Missense_Mutation_p.A216V|COASY_ENST00000590958.1_Missense_Mutation_p.A540V|MLX_ENST00000346833.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	511	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GAAGCCGCGGCTCAAAGCCGG	0.582													ENSG00000068120																																					0													42.0	44.0	43.0					17																	40717723		2203	4300	6503	SO:0001583	missense	0			-	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1532C>T	17.37:g.40717723C>T	ENSP00000377406:p.Ala511Val		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	p.A540V	ENST00000393818.2	37	c.1619	CCDS11429.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647748	0.87958	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	T;T;T	0.37915	1.17;1.17;1.17	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.62209	1.925	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59948	0.866;0.852	T	0.58103	-0.7695	10	0.87932	D	0	-12.9808	18.4586	0.90729	0.0:1.0:0.0:0.0	.	540;511	Q13057-2;Q13057	.;COASY_HUMAN	V	540;216;511;511	ENSP00000407740:A216V;ENSP00000413338:A511V;ENSP00000377406:A511V	ENSP00000377406:A511V	A	+	2	0	COASY	37971249	1.000000	0.71417	0.167000	0.22817	0.714000	0.41099	7.270000	0.78493	2.628000	0.89032	0.561000	0.74099	GCT	-	COASY	-	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase		0.582	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	0	0		16	16		0.00		C	NM_025233		40717723	+1	11		22		tier1	no_errors	ENST00000590958	ensembl	human	known	74_37	missense	33.33		SNP	0.997	T	11	22
CNGA1	1259	genome.wustl.edu	37	4	47938975	47938975	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:47938975G>A	ENST00000514170.1	-	11	1855	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	CNGA1_ENST00000402813.3_Silent_p.I581I|CNGA1_ENST00000358519.4_Silent_p.I512I|CNGA1_ENST00000420489.2_Silent_p.I512I|CNGA1_ENST00000544810.1_Silent_p.I512I			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	512					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTCTCGTCCGATATCCCCTT	0.463													ENSG00000198515																																					0													109.0	110.0	109.0					4																	47938975		2140	4278	6418	SO:0001819	synonymous_variant	0			-	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1536C>T	4.37:g.47938975G>A			A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.I581	ENST00000514170.1	37	c.1743	CCDS43226.1	4																																																																																			-	CNGA1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.463	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	0	0		29	29		0.00		G	NM_000087		47938975	-1	14		22		tier1	no_errors	ENST00000402813	ensembl	human	known	74_37	silent	38.89		SNP	0.993	A	14	22
RNF41	10193	genome.wustl.edu	37	12	56600345	56600345	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56600345G>A	ENST00000345093.4	-	7	1209	c.840C>T	c.(838-840)atC>atT	p.I280I	RNF41_ENST00000552656.1_Silent_p.I280I|RNF41_ENST00000394013.2_Silent_p.I209I	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	280					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						GCTTGCCAGGGATGCGCTTGG	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000181852																																					0													193.0	149.0	164.0					12																	56600345		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.840C>T	12.37:g.56600345G>A		1016	A6NFW0|B2RBT8|O75598	Silent	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.I280	ENST00000345093.4	37	c.840	CCDS8909.1	12																																																																																			-	RNF41	-	pfam_USP8_interacting		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	0	0		47	47		0.00		G	NM_005785		56600345	-1	10		23		tier1	no_errors	ENST00000345093	ensembl	human	known	74_37	silent	29.41		SNP	1.000	A	10	23
ARFGEF2	10564	genome.wustl.edu	37	20	47621718	47621718	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:47621718G>T	ENST00000371917.4	+	26	3544	c.3544G>T	c.(3544-3546)Gat>Tat	p.D1182Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1182					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTCCAGAAAGATTTTCTGAG	0.448													ENSG00000124198																									Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													135.0	132.0	133.0					20																	47621718		2203	4300	6503	SO:0001583	missense	0			-	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3544G>T	20.37:g.47621718G>T	ENSP00000360985:p.Asp1182Tyr		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.D1182Y	ENST00000371917.4	37	c.3544	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013943	0.93404	.	.	ENSG00000124198	ENST00000371917	T	0.65916	-0.18	5.95	5.95	0.96441	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88825	0.3301	10	0.87932	D	0	.	20.3923	0.98948	0.0:0.0:1.0:0.0	.	1182	Q9Y6D5	BIG2_HUMAN	Y	1182	ENSP00000360985:D1182Y	ENSP00000360985:D1182Y	D	+	1	0	ARFGEF2	47055125	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.831000	0.97527	0.609000	0.83330	GAT	-	ARFGEF2	-	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold		0.448	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	0	0		81	81		0.00		G	NM_006420		47621718	+1	39		97		tier1	no_errors	ENST00000371917	ensembl	human	known	74_37	missense	28.68		SNP	1.000	T	39	97
DPCR1	135656	genome.wustl.edu	37	6	30918953	30918953	+	Silent	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:30918953A>T	ENST00000462446.1	+	2	2740	c.2712A>T	c.(2710-2712)ggA>ggT	p.G904G	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	356						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAGAAAATGGAGAAAGGACCC	0.502													ENSG00000168631																																					0													85.0	75.0	78.0					6																	30918953		692	1591	2283	SO:0001819	synonymous_variant	0			-	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2712A>T	6.37:g.30918953A>T			C9IZC0|Q658M7|Q8WYN2	Silent	SNP	NULL	p.G904	ENST00000462446.1	37	c.2712	CCDS4692.2	6																																																																																			-	DPCR1	-	NULL		0.502	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	0	0		76	76		0.00		A	NM_080870		30918953	+1	34		43		tier1	no_errors	ENST00000462446	ensembl	human	novel	74_37	silent	43.59		SNP	0.002	T	34	43
GOLGA8H	728498	genome.wustl.edu	37	15	30906712	30906712	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:30906712A>G	ENST00000566740.1	+	19	1847	c.1847A>G	c.(1846-1848)aAc>aGc	p.N616S	RP11-932O9.7_ENST00000501830.2_RNA|AC026150.1_ENST00000408431.1_RNA|RN7SL628P_ENST00000473920.2_RNA|RP11-932O9.9_ENST00000602594.1_lincRNA			P0CJ92	GOG8H_HUMAN	golgin A8 family, member H	616						Golgi apparatus (GO:0005794)											TTGGGCAGCAACTGCTGTGTG	0.527													ENSG00000261794																																					0																																										SO:0001583	missense	0			-		CCDS61576.1	15q13.2	2012-10-05			ENSG00000261794	ENSG00000261794			37443	protein-coding gene	gene with protein product	"""golgi autoantigen, golgin subfamily a, 6-like 11"""						Standard	NM_001282490		Approved	GOLGA6L11		P0CJ92	OTTHUMG00000175654	ENST00000566740.1:c.1847A>G	15.37:g.30906712A>G	ENSP00000456894:p.Asn616Ser			Missense_Mutation	SNP	NULL	p.N616S	ENST00000566740.1	37	c.1847		15																																																																																			-	GOLGA8H	-	NULL		0.527	GOLGA8H-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8H	HGNC	protein_coding	OTTHUMT00000430724.1	0	0		167	167		0.00		A	XM_001724395		30906712	+1	93		77		tier1	no_errors	ENST00000566740	ensembl	human	novel	74_37	missense	54.71		SNP	0.263	G	93	77
MAN2C1	4123	genome.wustl.edu	37	15	75658863	75658863	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:75658863C>T	ENST00000267978.5	-	4	468	c.422G>A	c.(421-423)aGc>aAc	p.S141N	MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Splice_Site_p.S141N|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000565683.1_Splice_Site_p.S141N|MAN2C1_ENST00000569482.1_Splice_Site_p.S141N	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	141					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGGACTCACCTTCGGGGGTC	0.582													ENSG00000140400																																					0													53.0	42.0	46.0					15																	75658863		2197	4294	6491	SO:0001630	splice_region_variant	0			-	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.422+1G>A	15.37:g.75658863C>T			H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S141N	ENST00000267978.5	37	c.422	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465850	0.26335	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.18016	2.24	4.63	3.71	0.42584	.	0.144208	0.64402	D	0.000010	T	0.14141	0.0342	L	0.44542	1.39	0.50467	D	0.999875	B;B;B	0.16396	0.002;0.017;0.017	B;B;B	0.15870	0.014;0.011;0.011	T	0.06643	-1.0815	9	.	.	.	-12.8893	10.444	0.44483	0.0:0.908:0.0:0.092	.	141;141;141	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	N	141	ENSP00000267978:S141N	.	S	-	2	0	MAN2C1	73445916	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	3.392000	0.52537	0.950000	0.37743	0.485000	0.47835	AGC	-	MAN2C1	-	NULL		0.582	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	0	0		40	40		0.00		C		Missense_Mutation	75658863	-1	7		19		tier1	no_errors	ENST00000267978	ensembl	human	known	74_37	missense	26.92		SNP	1.000	T	7	19
KRT10	3858	genome.wustl.edu	37	17	38975339	38975339	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:38975339G>A	ENST00000269576.5	-	7	1457	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	TMEM99_ENST00000301665.3_5'Flank	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	483	Gly-rich.|Ser-rich.|Tail.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				gccgccgccggagcttccgcc	0.771													ENSG00000186395																																					0													2.0	2.0	2.0					17																	38975339		863	1997	2860	SO:0001583	missense	0			-	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1448C>T	17.37:g.38975339G>A	ENSP00000269576:p.Ser483Phe		Q14664|Q8N175	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S483F	ENST00000269576.5	37	c.1448	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	g	13.18	2.160626	0.38119	.	.	ENSG00000186395	ENST00000269576	D	0.84223	-1.82	4.74	2.48	0.30137	.	.	.	.	.	T	0.66597	0.2805	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47774	-0.9091	9	0.10111	T	0.7	.	7.9104	0.29787	0.0:0.0807:0.1769:0.7424	.	483	P13645	K1C10_HUMAN	F	483	ENSP00000269576:S483F	ENSP00000269576:S483F	S	-	2	0	KRT10	36228865	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	-0.594000	0.05733	-0.179000	0.10654	-3.893000	0.00017	TCC	-	KRT10	-	NULL		0.771	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	0	0		43	43		0.00		G	NM_000421		38975339	-1	10		32		tier1	no_errors	ENST00000269576	ensembl	human	known	74_37	missense	23.81		SNP	0.081	A	10	32
TPTE	7179	genome.wustl.edu	37	21	10944776	10944776	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:10944776T>C	ENST00000361285.4	-	11	787	c.458A>G	c.(457-459)tAt>tGt	p.Y153C	TPTE_ENST00000342420.5_Missense_Mutation_p.Y115C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.Y135C	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	153					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCAGAAAAATACTGCTGTCT	0.323													ENSG00000166157																																					0													102.0	112.0	109.0					21																	10944776		2203	4299	6502	SO:0001583	missense	0			-	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.458A>G	21.37:g.10944776T>C	ENSP00000355208:p.Tyr153Cys		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y153C	ENST00000361285.4	37	c.458	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	5.845	0.340041	0.11069	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99376	-5.79;-5.79;-5.79	2.31	1.13	0.20643	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.98902	0.9628	M	0.72118	2.19	0.46542	D	0.999097	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.97947	1.0329	10	0.87932	D	0	-30.7885	4.3158	0.10993	0.0:0.1719:0.0:0.8281	.	115;135;153	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	C	135;153;115	ENSP00000298232:Y135C;ENSP00000355208:Y153C;ENSP00000344441:Y115C	ENSP00000298232:Y135C	Y	-	2	0	TPTE	9966647	0.998000	0.40836	0.476000	0.27291	0.148000	0.21650	1.502000	0.35704	0.316000	0.23135	-1.224000	0.01588	TAT	-	TPTE	-	pfam_Ion_trans_dom		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	0	0		166	166		0.00		T			10944776	-1	27		160		tier1	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	14.44		SNP	0.797	C	27	160
TSSC1	7260	genome.wustl.edu	37	2	3193006	3193006	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:3193006C>T	ENST00000382125.4	-	0	1455				TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_3'UTR	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)		AGAGAGGGATCCACCTGGAAC	0.557													ENSG00000032389																									Colon(140;1261 1762 4183 34270 49743)												0																																										SO:0001624	3_prime_UTR_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.*99G>A	2.37:g.3193006C>T			D6W4Y1|O43179|Q53S19|Q53SG2	R	SNP	-	NULL	ENST00000382125.4	37	NULL	CCDS1651.1	2																																																																																			-	TSSC1	-	-		0.557	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	0	0		51	51		0.00		C	NM_003310		3193006	-1	17		40		tier1	no_errors	ENST00000478754	ensembl	human	known	74_37	rna	29.82		SNP	0.000	T	17	40
LRBA	987	genome.wustl.edu	37	4	151773285	151773285	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:151773285C>T	ENST00000357115.3	-	23	3820	c.3577G>A	c.(3577-3579)Gaa>Aaa	p.E1193K	LRBA_ENST00000535741.1_Missense_Mutation_p.E1193K|LRBA_ENST00000507224.1_Missense_Mutation_p.E1193K|LRBA_ENST00000510413.1_Missense_Mutation_p.E1193K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1193						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACAGTAGTTTCTGGTGACATA	0.388													ENSG00000198589																																					0													96.0	94.0	95.0					4																	151773285		2203	4300	6503	SO:0001583	missense	0			-	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3577G>A	4.37:g.151773285C>T	ENSP00000349629:p.Glu1193Lys		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.E1193K	ENST00000357115.3	37	c.3577	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153607	0.57259	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.55588	0.93;1.08;0.93;0.51	5.58	5.58	0.84498	.	0.936623	0.08957	N	0.869169	T	0.39600	0.1084	N	0.08118	0	0.45216	D	0.998229	B;B	0.30361	0.181;0.277	B;B	0.29077	0.045;0.098	T	0.29366	-1.0014	10	0.26408	T	0.33	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	1193;1193	P50851;P50851-2	LRBA_HUMAN;.	K	1193	ENSP00000446299:E1193K;ENSP00000421552:E1193K;ENSP00000349629:E1193K;ENSP00000422180:E1193K	ENSP00000349629:E1193K	E	-	1	0	LRBA	151992735	1.000000	0.71417	0.041000	0.18516	0.697000	0.40408	3.434000	0.52841	2.789000	0.95967	0.591000	0.81541	GAA	-	LRBA	-	NULL		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	0	0		39	39		0.00		C			151773285	-1	11		32		tier1	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	25.58		SNP	0.977	T	11	32
Unknown	0	genome.wustl.edu	37	22	17140390	17140390	+	IGR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:17140390G>A								TPTEP1 (5691 upstream) : ANKRD62P1-PARP4P3 (14060 downstream)																							AAGCCACCTGGAAATAGAAGC	0.338													ENSG00000189295																																					0																																										SO:0001628	intergenic_variant	0			-																													22.37:g.17140390G>A				R	SNP	-	NULL		37	NULL		22																																																																																			-	ANKRD62P1-PARP4P3	-	-	0	0.338					ANKRD62P1-PARP4P3	HGNC			0	0		35	35		0.00		G			17140390	-1	11		12		tier1	no_errors	ENST00000456726	ensembl	human	known	74_37	rna	47.83		SNP	0.130	A	11	12
GREB1	9687	genome.wustl.edu	37	2	11721014	11721014	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:11721014C>T	ENST00000381486.2	+	7	1201				GREB1_ENST00000381483.2_Intron|GREB1_ENST00000263834.5_Intron|GREB1_ENST00000389825.3_Silent_p.A209A|GREB1_ENST00000234142.5_Intron	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1							integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGCCAAGGCCAGAGGGGGCA	0.627													ENSG00000196208																									Ovarian(39;850 945 2785 23371 33093)												0																																										SO:0001627	intron_variant	0			-		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.901+56C>T	2.37:g.11721014C>T			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.A209	ENST00000381486.2	37	c.627	CCDS42655.1	2																																																																																			-	GREB1	-	NULL		0.627	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	0	0		39	39		0.00		C	NM_014668		11721014	+1	8		41		tier1	no_errors	ENST00000389825	ensembl	human	putative	74_37	silent	16.33		SNP	0.000	T	8	41
CHRDL2	25884	genome.wustl.edu	37	11	74442014	74442014	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:74442014C>T	ENST00000376332.3	-	0	416				CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2						cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCACAGGGGCCACAGATCAAC	0.657													ENSG00000054938																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.-81G>A	11.37:g.74442014C>T			A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	R	SNP	-	NULL	ENST00000376332.3	37	NULL		11																																																																																			-	CHRDL2	-	-		0.657	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	HGNC	protein_coding	OTTHUMT00000385391.1	0	0		31	31		0.00		C			74442014	-1	20		25		tier1	no_errors	ENST00000534159	ensembl	human	known	74_37	rna	44.44		SNP	0.000	T	20	25
PCDHGA10	56106	genome.wustl.edu	37	5	140794690	140794690	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140794690G>A	ENST00000398610.2	+	1	1948	c.1948G>A	c.(1948-1950)Gtc>Atc	p.V650I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	650	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTAGTGGCCGTCCAGGACCA	0.706													ENSG00000253846																																					0													44.0	54.0	51.0					5																	140794690		2202	4296	6498	SO:0001583	missense	0			-		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1948G>A	5.37:g.140794690G>A	ENSP00000381611:p.Val650Ile		Q9Y5E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V650I	ENST00000398610.2	37	c.1948	CCDS47292.1	5	.	.	.	.	.	.	.	.	.	.	g	19.86	3.905066	0.72868	.	.	ENSG00000253846	ENST00000398610	T	0.61510	0.1	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72095	0.3418	M	0.71920	2.185	0.30890	N	0.730404	P;D	0.54964	0.955;0.969	P;P	0.55391	0.538;0.775	T	0.74315	-0.3705	9	0.62326	D	0.03	.	18.8436	0.92194	0.0:0.0:1.0:0.0	.	650;650	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	I	650	ENSP00000381611:V650I	ENSP00000381611:V650I	V	+	1	0	PCDHGA10	140774874	0.998000	0.40836	0.966000	0.40874	0.898000	0.52572	2.593000	0.46180	2.548000	0.85928	0.556000	0.70494	GTC	-	PCDHGA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.706	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	HGNC	protein_coding	OTTHUMT00000374747.1	0	0		62	62		0.00		G	NM_018913		140794690	+1	27		69		tier1	no_errors	ENST00000398610	ensembl	human	known	74_37	missense	28.12		SNP	0.999	A	27	69
MAPK7	5598	genome.wustl.edu	37	17	19286475	19286475	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:19286475C>T	ENST00000308406.5	+	7	2768	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	MAPK7_ENST00000395604.3_Silent_p.S794S|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000395602.4_Silent_p.S794S|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Silent_p.S655S	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	794	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ATATTGAGTCCCTGCAGCGTG	0.612													ENSG00000166484																																					0													81.0	73.0	76.0					17																	19286475		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2382C>T	17.37:g.19286475C>T			Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	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.S794	ENST00000308406.5	37	c.2382	CCDS11206.1	17																																																																																			-	MAPK7	-	NULL		0.612	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	0	0		35	35		0.00		C	NM_139033		19286475	+1	32		42		tier1	no_errors	ENST00000308406	ensembl	human	known	74_37	silent	43.24		SNP	0.977	T	32	42
ZBTB1	22890	genome.wustl.edu	37	14	64989325	64989325	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:64989325C>T	ENST00000554015.1	+	4	1534	c.1103C>T	c.(1102-1104)cCa>cTa	p.P368L	ZBTB1_ENST00000394712.2_Missense_Mutation_p.P368L|ZBTB1_ENST00000358738.3_Missense_Mutation_p.P368L|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	368					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CCTGAAGAGCCATTTTATAGA	0.338													ENSG00000126804																																					0													58.0	64.0	62.0					14																	64989325		2203	4300	6503	SO:0001583	missense	0			-	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1103C>T	14.37:g.64989325C>T	ENSP00000451000:p.Pro368Leu		A8K6S8|Q86SW8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P368L	ENST00000554015.1	37	c.1103	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242721	0.39598	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10668	2.85;3.4;2.85	5.95	5.95	0.96441	.	0.306481	0.28322	N	0.015778	T	0.18257	0.0438	N	0.24115	0.695	0.54753	D	0.999987	D;D	0.61697	0.99;0.965	P;B	0.56474	0.799;0.396	T	0.01218	-1.1415	10	0.34782	T	0.22	-14.6008	20.3932	0.98965	0.0:1.0:0.0:0.0	.	368;368	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	368	ENSP00000451000:P368L;ENSP00000351587:P368L;ENSP00000378201:P368L	ENSP00000351587:P368L	P	+	2	0	ZBTB1	64059078	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.136000	0.42121	2.824000	0.97209	0.655000	0.94253	CCA	-	ZBTB1	-	NULL		0.338	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	0	0		60	60		0.00		C			64989325	+1	33		21		tier1	no_errors	ENST00000394712	ensembl	human	known	74_37	missense	61.11		SNP	1.000	T	33	21
ASTN2	23245	genome.wustl.edu	37	9	119770453	119770453	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:119770453G>A	ENST00000313400.4	-	7	1609	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	ASTN2_ENST00000373996.3_Silent_p.I503I|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.I452I			O75129	ASTN2_HUMAN	astrotactin 2	503					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGTGGCATTGATCTGGTAAT	0.577													ENSG00000148219																																					0													110.0	97.0	101.0					9																	119770453		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1509C>T	9.37:g.119770453G>A			A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.I503	ENST00000313400.4	37	c.1509		9																																																																																			-	ASTN2	-	NULL		0.577	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		0	0		88	88		0.00		G	NM_014010		119770453	-1	41		102		tier1	no_errors	ENST00000313400	ensembl	human	known	74_37	silent	28.67		SNP	1.000	A	41	102
IL2RB	3560	genome.wustl.edu	37	22	37524587	37524587	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:37524587C>T	ENST00000216223.5	-	10	1403	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	402					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGGAAGACCCTGTGGGTGC	0.627													ENSG00000100385																																					0													40.0	43.0	42.0					22																	37524587		2203	4300	6503	SO:0001583	missense	0			-	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1205G>A	22.37:g.37524587C>T	ENSP00000216223:p.Gly402Glu		B2R765	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G402E	ENST00000216223.5	37	c.1205	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630722	0.28978	.	.	ENSG00000100385	ENST00000216223	T	0.10668	2.85	4.49	3.46	0.39613	.	5.698050	0.00582	N	0.000333	T	0.14743	0.0356	L	0.50333	1.59	0.09310	N	1	P	0.40211	0.707	B	0.38655	0.278	T	0.38520	-0.9657	10	0.19147	T	0.46	-13.2509	11.7451	0.51815	0.1762:0.8238:0.0:0.0	.	402	P14784	IL2RB_HUMAN	E	402	ENSP00000216223:G402E	ENSP00000216223:G402E	G	-	2	0	IL2RB	35854533	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.187000	0.16998	1.208000	0.43306	0.655000	0.94253	GGG	-	IL2RB	-	NULL		0.627	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	HGNC	protein_coding	OTTHUMT00000318792.1	0	0		35	35		0.00		C			37524587	-1	12		11		tier1	no_errors	ENST00000216223	ensembl	human	known	74_37	missense	52.17		SNP	0.006	T	12	11
RYR1	6261	genome.wustl.edu	37	19	39008190	39008190	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39008190C>T	ENST00000359596.3	+	66	9877	c.9877C>T	c.(9877-9879)Cct>Tct	p.P3293S	RYR1_ENST00000355481.4_Missense_Mutation_p.P3293S|RYR1_ENST00000360985.3_Missense_Mutation_p.P3293S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3293					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGAGGCACCCCCTTCCGCCCT	0.647													ENSG00000196218																																					0													33.0	29.0	30.0					19																	39008190		2201	4298	6499	SO:0001583	missense	0			-	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9877C>T	19.37:g.39008190C>T	ENSP00000352608:p.Pro3293Ser		Q16314|Q16368|Q9NPK1|Q9P1U4	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P3293S	ENST00000359596.3	37	c.9877	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315712	0.10789	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96619	-4.07;-4.07;-4.07	4.07	1.55	0.23275	.	.	.	.	.	D	0.92577	0.7642	L	0.44542	1.39	0.30360	N	0.783896	B;B;B	0.14805	0.0;0.004;0.011	B;B;B	0.08055	0.001;0.003;0.001	D	0.88359	0.2986	9	0.46703	T	0.11	.	7.8877	0.29659	0.1698:0.7305:0.0:0.0997	.	3293;3293;3293	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	S	3293;3293;3293;213	ENSP00000352608:P3293S;ENSP00000347667:P3293S;ENSP00000354254:P3293S	ENSP00000347667:P3293S	P	+	1	0	RYR1	43700030	0.028000	0.19301	0.921000	0.36526	0.199000	0.23934	0.140000	0.16056	0.696000	0.31696	0.205000	0.17691	CCT	-	RYR1	-	NULL		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	0	0		37	37		0.00		C			39008190	+1	27		26		tier1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	50.94		SNP	0.986	T	27	26
IQGAP1	8826	genome.wustl.edu	37	15	91027561	91027561	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:91027561G>A	ENST00000268182.5	+	30	4022	c.3898G>A	c.(3898-3900)Ggt>Agt	p.G1300S	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G728S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1300	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATTTCCATTGGTGAAATCAT	0.368													ENSG00000140575																																					0													109.0	103.0	105.0					15																	91027561		2198	4298	6496	SO:0001583	missense	0			-	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3898G>A	15.37:g.91027561G>A	ENSP00000268182:p.Gly1300Ser		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.G1300S	ENST00000268182.5	37	c.3898	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952153	0.53293	.	.	ENSG00000140575	ENST00000268182	T	0.47869	0.83	5.65	5.65	0.86999	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	L	0.31120	0.905	0.80722	D	1	B	0.26195	0.144	B	0.21360	0.034	T	0.16689	-1.0394	10	0.10636	T	0.68	-18.5302	19.0935	0.93238	0.0:0.0:1.0:0.0	.	1300	P46940	IQGA1_HUMAN	S	1300	ENSP00000268182:G1300S	ENSP00000268182:G1300S	G	+	1	0	IQGAP1	88828565	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.618000	0.98365	2.827000	0.97445	0.650000	0.86243	GGT	-	IQGAP1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.368	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	0	0		83	83		0.00		G	NM_003870		91027561	+1	33		28		tier1	no_errors	ENST00000268182	ensembl	human	known	74_37	missense	54.10		SNP	1.000	A	33	28
ANK3	288	genome.wustl.edu	37	10	61834561	61834561	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:61834561C>T	ENST00000280772.2	-	37	6269	c.6078G>A	c.(6076-6078)aaG>aaA	p.K2026K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2026					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						AGTTATAATCCTTTTCGGAGG	0.428													ENSG00000151150																																					0													84.0	85.0	85.0					10																	61834561		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6078G>A	10.37:g.61834561C>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.K2026	ENST00000280772.2	37	c.6078	CCDS7258.1	10																																																																																			-	ANK3	-	NULL		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	0	0		31	31		0.00		C	NM_020987		61834561	-1	6		31		tier1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	16.22		SNP	1.000	T	6	31
SLC25A41	284427	genome.wustl.edu	37	19	6433609	6433609	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6433609G>A	ENST00000321510.6	-	1	164	c.96C>T	c.(94-96)ccC>ccT	p.P32P	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						gaggttgggggggaggcgggg	0.577													ENSG00000181240																																					0													47.0	46.0	46.0					19																	6433609		1887	4100	5987	SO:0001819	synonymous_variant	0			-	AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.96C>T	19.37:g.6433609G>A				Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.P32	ENST00000321510.6	37	c.96	CCDS45937.1	19																																																																																			-	SLC25A41	-	NULL		0.577	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1	0	0		43	43		0.00		G	NM_173637		6433609	-1	38		35		tier1	no_errors	ENST00000321510	ensembl	human	known	74_37	silent	52.05		SNP	0.000	A	38	35
VEPH1	79674	genome.wustl.edu	37	3	157031465	157031465	+	Missense_Mutation	SNP	C	C	T	rs201853660		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:157031465C>T	ENST00000362010.2	-	11	2262	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E	RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Missense_Mutation_p.G652E|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	652						plasma membrane (GO:0005886)		p.G652E(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTGAGCACCCCCTGCCTGGGT	0.488													ENSG00000197415																																					1	Substitution - Missense(1)	kidney(1)											73.0	75.0	74.0					3																	157031465		2203	4300	6503	SO:0001583	missense	0			-	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1955G>A	3.37:g.157031465C>T	ENSP00000354919:p.Gly652Glu		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G652E	ENST00000362010.2	37	c.1955	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	C	0.099	-1.155233	0.01700	.	.	ENSG00000197415	ENST00000362010;ENST00000392832	T;T	0.06294	3.32;3.32	5.01	-1.53	0.08611	.	0.368712	0.28653	N	0.014587	T	0.01558	0.0050	N	0.01874	-0.695	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	10	0.02654	T	1	-0.1681	5.7749	0.18273	0.0:0.4074:0.1521:0.4405	.	652	Q14D04	MELT_HUMAN	E	652	ENSP00000354919:G652E;ENSP00000376577:G652E	ENSP00000354919:G652E	G	-	2	0	VEPH1	158514159	0.749000	0.28305	0.000000	0.03702	0.584000	0.36387	1.185000	0.32065	-0.438000	0.07232	0.484000	0.47621	GGG	-	VEPH1	-	NULL		0.488	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	0	0		47	47		0.00		C	NM_024621		157031465	-1	31		53		tier1	no_errors	ENST00000362010	ensembl	human	known	74_37	missense	36.90		SNP	0.002	T	31	53
MED28	80306	genome.wustl.edu	37	4	17616151	17616151	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:17616151C>T	ENST00000237380.7	+	0	0				AC006160.5_ENST00000511010.1_RNA	NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cortical actin cytoskeleton (GO:0030864)|mediator complex (GO:0016592)|membrane (GO:0016020)				lung(6)|skin(2)	8						AATCCTCCTTCCGGGGTGCAC	0.498													ENSG00000249502																																					0																																										SO:0001631	upstream_gene_variant	0			-	AF317678	CCDS33963.1	4p16	2007-07-30	2007-07-30		ENSG00000118579	ENSG00000118579			24628	protein-coding gene	gene with protein product		610311	"""mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae)"""			11779215, 15467741	Standard	NM_025205		Approved	EG1, DKFZP434N185, magicin	uc003gpi.1	Q9H204	OTTHUMG00000161980		4.37:g.17616151C>T	Exception_encountered		Q9BZJ5	R	SNP	-	NULL	ENST00000237380.7	37	NULL	CCDS33963.1	4																																																																																			-	AC006160.5	-	-		0.498	MED28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249502	Clone_based_vega_gene	protein_coding	OTTHUMT00000360055.3	0	0		32	32		0.00		C	NM_025205		17616151	-1	11		29		tier1	no_errors	ENST00000511010	ensembl	human	known	74_37	rna	27.50		SNP	0.000	T	11	29
OR10J3	441911	genome.wustl.edu	37	1	159283599	159283599	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:159283599G>A	ENST00000332217.5	-	1	850	c.851C>T	c.(850-852)cCt>cTt	p.P284L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284H(1)		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)					GGGTTCAGTAGGGGAGTGATG	0.507													ENSG00000196266																																					1	Substitution - Missense(1)	lung(1)											121.0	105.0	111.0					1																	159283599		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.851C>T	1.37:g.159283599G>A	ENSP00000331789:p.Pro284Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P284L	ENST00000332217.5	37	c.851	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266082	0.59540	.	.	ENSG00000196266	ENST00000332217	T	0.44083	0.93	5.34	2.27	0.28462	.	0.000000	0.32671	U	0.005784	T	0.61185	0.2327	H	0.97186	3.955	0.42677	D	0.993532	D	0.64830	0.994	D	0.73708	0.981	T	0.63972	-0.6516	10	0.87932	D	0	.	4.1252	0.10125	0.2856:0.1722:0.5422:0.0	.	284	Q5JRS4	O10J3_HUMAN	L	284	ENSP00000331789:P284L	ENSP00000331789:P284L	P	-	2	0	OR10J3	157550223	0.000000	0.05858	0.987000	0.45799	0.925000	0.55904	-0.280000	0.08468	0.820000	0.34516	0.655000	0.94253	CCT	-	OR10J3	-	NULL		0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	0	0		28	28		0.00		G			159283599	-1	34		35		tier1	no_errors	ENST00000332217	ensembl	human	known	74_37	missense	49.28		SNP	0.993	A	34	35
AKR1C4	1109	genome.wustl.edu	37	10	5242241	5242241	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5242241T>C	ENST00000380448.1	+	4	435	c.182T>C	c.(181-183)gTt>gCt	p.V61A	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.V61A			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	61					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						GAGGAGCAGGTTGGACTGGCC	0.448													ENSG00000198610																																					0													138.0	116.0	124.0					10																	5242241		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.182T>C	10.37:g.5242241T>C	ENSP00000369814:p.Val61Ala		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.V61A	ENST00000380448.1	37	c.182	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191391	0.58017	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.27256	1.68;1.68	3.32	3.32	0.38043	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.420220	0.18764	N	0.131817	T	0.54287	0.1849	M	0.89904	3.07	0.23003	N	0.998442	D	0.67145	0.996	D	0.73380	0.98	T	0.48222	-0.9054	10	0.87932	D	0	.	9.9163	0.41436	0.0:0.0:0.0:1.0	.	61	P17516	AK1C4_HUMAN	A	61	ENSP00000369814:V61A;ENSP00000263126:V61A	ENSP00000263126:V61A	V	+	2	0	AKR1C4	5232241	0.997000	0.39634	0.004000	0.12327	0.028000	0.11728	6.547000	0.73892	1.268000	0.44264	0.482000	0.46254	GTT	-	AKR1C4	-	pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	0	0		110	110		0.00		T	NM_001818		5242241	+1	45		91		tier1	no_errors	ENST00000263126	ensembl	human	known	74_37	missense	33.09		SNP	0.534	C	45	91
CLMN	79789	genome.wustl.edu	37	14	95679645	95679645	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:95679645G>A	ENST00000298912.4	-	6	632	c.519C>T	c.(517-519)ccC>ccT	p.P173P		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	173	Actin-binding.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCTCTGCAGTGGGTGTGGGTG	0.562													ENSG00000165959																																					0													148.0	121.0	130.0					14																	95679645		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.519C>T	14.37:g.95679645G>A			B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.P173	ENST00000298912.4	37	c.519	CCDS9933.1	14																																																																																			-	CLMN	-	superfamily_CH-domain		0.562	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	0	0		73	73		0.00		G			95679645	-1	34		31		tier1	no_errors	ENST00000298912	ensembl	human	known	74_37	silent	52.31		SNP	1.000	A	34	31
PABPC1L	80336	genome.wustl.edu	37	20	43561059	43561059	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:43561059C>T	ENST00000217073.2	+	9	1316	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000255136.3_Missense_Mutation_p.P439L|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000537323.1_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	439	Pro-rich.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ACATCCCAGCCACCTAGACCT	0.607													ENSG00000101104																																					0													53.0	58.0	57.0					20																	43561059		1568	3582	5150	SO:0001583	missense	0			-	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1316C>T	20.37:g.43561059C>T	ENSP00000217073:p.Pro439Leu		Q4VY17	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.P439L	ENST00000217073.2	37	c.1316	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849506	0.17034	.	.	ENSG00000101104	ENST00000255136;ENST00000217073	T;T	0.17213	2.29;2.29	5.91	4.97	0.65823	.	0.316835	0.39274	N	0.001411	T	0.11410	0.0278	L	0.27053	0.805	0.58432	D	0.999997	B	0.25441	0.126	B	0.19946	0.027	T	0.15037	-1.0451	10	0.27082	T	0.32	.	9.5185	0.39120	0.1405:0.7877:0.0:0.0718	.	439	Q4VXU2	PAP1L_HUMAN	L	439	ENSP00000255136:P439L;ENSP00000217073:P439L	ENSP00000217073:P439L	P	+	2	0	PABPC1L	42994473	0.701000	0.27806	0.904000	0.35570	0.969000	0.65631	1.172000	0.31908	1.504000	0.48704	0.655000	0.94253	CCA	-	PABPC1L	-	tigrfam_PABP_1234		0.607	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	0	0		51	51		0.00		C			43561059	+1	11		79		tier1	no_errors	ENST00000217073	ensembl	human	known	74_37	missense	12.22		SNP	0.761	T	11	79
CFTR	1080	genome.wustl.edu	37	7	117235015	117235015	+	Missense_Mutation	SNP	C	C	T	rs397508392		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:117235015C>T	ENST00000003084.6	+	15	2654	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L	CFTR_ENST00000454343.1_Missense_Mutation_p.P780L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	841					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)	GAGAGCATACCAGCAGTGACT	0.353									Cystic Fibrosis				ENSG00000001626																																					0			GRCh37	CM004892	CFTR	M							160.0	148.0	152.0					7																	117235015		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.2522C>T	7.37:g.117235015C>T	ENSP00000003084:p.Pro841Leu		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.P841L	ENST00000003084.6	37	c.2522	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065463	0.20067	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95035	-3.59;-3.59;-3.59	5.34	5.34	0.76211	ABC transporter, transmembrane domain, type 1 (1);	0.276053	0.42420	D	0.000718	D	0.93546	0.7940	M	0.63428	1.95	0.09310	N	0.999999	B	0.23540	0.087	B	0.36766	0.232	D	0.85820	0.1385	10	0.35671	T	0.21	-16.8898	11.4331	0.50052	0.1308:0.7268:0.1424:0.0	.	841	P13569	CFTR_HUMAN	L	841;780;811	ENSP00000003084:P841L;ENSP00000403677:P780L;ENSP00000389119:P811L	ENSP00000003084:P841L	P	+	2	0	CFTR	117022251	0.289000	0.24334	0.380000	0.26093	0.658000	0.38924	2.288000	0.43514	2.652000	0.90054	0.591000	0.81541	CCA	-	CFTR	-	superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel		0.353	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	0	0		69	69		0.00		C	NM_000492		117235015	+1	32		57		tier1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	35.96		SNP	0.036	T	32	57
RGS7	6000	genome.wustl.edu	37	1	240976931	240976931	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:240976931C>T	ENST00000407727.1	-	12	942	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	RGS7_ENST00000331110.7_Missense_Mutation_p.E289K|RGS7_ENST00000401882.1_Missense_Mutation_p.E262K|RGS7_ENST00000348120.2_Missense_Mutation_p.E262K|RGS7_ENST00000366562.4_Missense_Mutation_p.E315K|RGS7_ENST00000446183.2_Missense_Mutation_p.E231K|RGS7_ENST00000366565.1_Missense_Mutation_p.E315K|RGS7_ENST00000366563.1_Missense_Mutation_p.E315K|RGS7_ENST00000366564.1_Missense_Mutation_p.E315K			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	315	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCCTCAAGTTCCCAGAAAGTG	0.433													ENSG00000182901																																					0													108.0	98.0	102.0					1																	240976931		2203	4300	6503	SO:0001583	missense	0			-	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.943G>A	1.37:g.240976931C>T	ENSP00000384428:p.Glu315Lys		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.E315K	ENST00000407727.1	37	c.943		1	.	.	.	.	.	.	.	.	.	.	C	36	5.732649	0.96856	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.76	5.76	0.90799	G-protein gamma domain (1);	0.050546	0.85682	D	0.000000	T	0.36580	0.0972	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P;P;B	0.48911	0.866;0.727;0.837;0.84;0.917;0.692;0.201	P;P;P;P;P;B;B	0.52066	0.689;0.489;0.535;0.64;0.64;0.358;0.2	T	0.01195	-1.1422	10	0.42905	T	0.14	-20.7719	18.9557	0.92658	0.0:1.0:0.0:0.0	.	231;289;262;315;315;315;315	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	K	289;315;315;315;146;262;231;315;315;262	ENSP00000331485:E289K;ENSP00000355523:E315K;ENSP00000355522:E315K;ENSP00000355521:E315K;ENSP00000404399:E146K;ENSP00000341242:E262K;ENSP00000390138:E231K;ENSP00000355520:E315K;ENSP00000384428:E315K;ENSP00000385508:E262K	ENSP00000331485:E289K	E	-	1	0	RGS7	239043554	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.709000	0.92574	0.655000	0.94253	GAA	-	RGS7	-	smart_G-protein_gamma-like_dom		0.433	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		0	0		83	83		0.00		C	NM_002924		240976931	-1	48		60		tier1	no_errors	ENST00000407727	ensembl	human	known	74_37	missense	44.44		SNP	1.000	T	48	60
GALNT13	114805	genome.wustl.edu	37	2	155098681	155098681	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:155098681C>T	ENST00000392825.3	+	5	1017	c.450C>T	c.(448-450)gtC>gtT	p.V150V	GALNT13_ENST00000409237.1_Silent_p.V150V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	150	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTCAGAGGTCATCTTGGTAG	0.348													ENSG00000144278																																					0													127.0	117.0	120.0					2																	155098681		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.450C>T	2.37:g.155098681C>T			Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V150	ENST00000392825.3	37	c.450	CCDS2199.1	2																																																																																			-	GALNT13	-	pfam_Glyco_trans_2		0.348	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	0	0		33	33		0.00		C	NM_052917		155098681	+1	6		24		tier1	no_errors	ENST00000409237	ensembl	human	known	74_37	silent	20.00		SNP	1.000	T	6	24
CGB5	93659	genome.wustl.edu	37	19	49548426	49548426	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49548426G>A	ENST00000301408.6	+	3	699	c.373G>A	c.(373-375)Gac>Aac	p.D125N	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	125					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGGTCCCAAGGACCACCCCTT	0.677													ENSG00000189052																																					0													1.0	2.0	2.0					19																	49548426		655	1705	2360	SO:0001583	missense	0			-	X00265	CCDS12752.1	19q13.32	2008-02-05				ENSG00000189052			16452	protein-coding gene	gene with protein product		608825				6194155	Standard	NM_033043		Approved	HCG	uc002ply.3	P01233		ENST00000301408.6:c.373G>A	19.37:g.49548426G>A	ENSP00000301408:p.Asp125Asn		A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.D125N	ENST00000301408.6	37	c.373	CCDS12752.1	19	.	.	.	.	.	.	.	.	.	.	g	0.446	-0.896232	0.02472	.	.	ENSG00000189052	ENST00000428927;ENST00000301408	T	0.56941	0.43	1.83	-0.462	0.12168	.	0.592256	0.17607	N	0.168236	T	0.31702	0.0805	.	.	.	0.20196	N	0.999922	.	.	.	.	.	.	T	0.16012	-1.0417	7	0.20046	T	0.44	-5.3264	3.9338	0.09298	0.4697:0.0:0.5303:0.0	.	.	.	.	N	128;125	ENSP00000301408:D125N	ENSP00000301408:D125N	D	+	1	0	CGB5	54240238	0.790000	0.28787	0.005000	0.12908	0.198000	0.23893	1.861000	0.39438	-0.074000	0.12820	0.195000	0.17529	GAC	-	CGB5	-	pfam_Cys_knot,smart_Gonadotropin_bsu		0.677	CGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGB5	HGNC	protein_coding	OTTHUMT00000466251.1	0	0		26	26		0.00		G	NM_033043		49548426	+1	7		27		tier1	no_errors	ENST00000301408	ensembl	human	known	74_37	missense	20.59		SNP	0.738	A	7	27
NXF1	10482	genome.wustl.edu	37	11	62568890	62568890	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62568890C>T	ENST00000532297.1	-	9	1339		c.e9-1		NXF1_ENST00000294172.2_Splice_Site|NXF1_ENST00000531131.1_Splice_Site|NXF1_ENST00000439713.2_Splice_Site|NXF1_ENST00000531709.2_Splice_Site			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCACCAAATCTTCAGGAAGC	0.498													ENSG00000162231																																					0													67.0	60.0	62.0					11																	62568890		2201	4299	6500	SO:0001630	splice_region_variant	0			-	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.710-1G>A	11.37:g.62568890C>T			B4E269|Q99799|Q9UQL2	Splice_Site	SNP	-	e8-1	ENST00000532297.1	37	c.710-1	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439437	0.83885	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3748	0.83382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF1	62325466	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.461000	0.80834	2.466000	0.83321	0.655000	0.94253	.	-	NXF1	-	-		0.498	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	0	0		40	40		0.00		C	NM_006362	Intron	62568890	-1	19		20		tier1	no_errors	ENST00000294172	ensembl	human	known	74_37	splice_site	48.72		SNP	1.000	T	19	20
ATXN2L	11273	genome.wustl.edu	37	16	28844425	28844425	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:28844425C>T	ENST00000336783.4	+	14	1872	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	ATXN2L_ENST00000570200.1_Missense_Mutation_p.P569S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P569S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P575S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P569S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P569S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P569S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	569					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCTTTTCCTCCCCGGATCTT	0.542													ENSG00000168488																																					0													119.0	123.0	122.0					16																	28844425		2197	4300	6497	SO:0001583	missense	0			-		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1705C>T	16.37:g.28844425C>T	ENSP00000338718:p.Pro569Ser		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P569S	ENST00000336783.4	37	c.1705	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	11.09	1.537488	0.27475	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.42900	0.96;0.96;0.97;0.96;0.96	5.8	-1.15	0.09709	.	0.467195	0.21833	N	0.068458	T	0.11793	0.0287	N	0.01352	-0.895	0.27361	N	0.955977	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.08055	0.002;0.0;0.001;0.001;0.002;0.002;0.001;0.003	T	0.32508	-0.9904	10	0.14656	T	0.56	-1.8461	6.9994	0.24801	0.0:0.5582:0.1136:0.3282	.	569;569;569;569;569;569;569;569	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	S	569	ENSP00000341459:P569S;ENSP00000378917:P569S;ENSP00000338718:P569S;ENSP00000372133:P569S;ENSP00000315650:P569S	ENSP00000315650:P569S	P	+	1	0	ATXN2L	28751926	0.083000	0.21467	0.996000	0.52242	0.998000	0.95712	-0.035000	0.12205	0.097000	0.17492	0.655000	0.94253	CCC	-	ATXN2L	-	NULL		0.542	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	0	0		91	91		0.00		C	NM_007245		28844425	+1	31		62		tier1	no_errors	ENST00000395547	ensembl	human	known	74_37	missense	33.33		SNP	0.904	T	31	62
BPIFB1	92747	genome.wustl.edu	37	20	31877728	31877728	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31877728G>A	ENST00000253354.1	+	4	456	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	99					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCAGCTGCAGGTGAAGCCCTC	0.542													ENSG00000125999																																					0													139.0	115.0	123.0					20																	31877728		2203	4300	6503	SO:0001583	missense	0			-	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.295G>A	20.37:g.31877728G>A	ENSP00000253354:p.Val99Met		A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	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,pirsf_PLUNC_long_form	p.V99M	ENST00000253354.1	37	c.295	CCDS13218.1	20	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037125	0.54896	.	.	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.06687	3.27;3.27	5.24	-0.958	0.10347	.	0.845837	0.10262	N	0.695797	T	0.17023	0.0409	M	0.68317	2.08	0.09310	N	1	D;D	0.58970	0.984;0.984	P;P	0.59889	0.865;0.865	T	0.14924	-1.0455	10	0.59425	D	0.04	-8.248	3.5077	0.07696	0.3763:0.0:0.4181:0.2056	.	99;99	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	M	99	ENSP00000390471:V99M;ENSP00000253354:V99M	ENSP00000253354:V99M	V	+	1	0	BPIFB1	31341389	0.034000	0.19679	0.008000	0.14137	0.205000	0.24178	0.501000	0.22578	0.072000	0.16694	0.655000	0.94253	GTG	-	BPIFB1	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form		0.542	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	HGNC	protein_coding	OTTHUMT00000106499.2	0	0		38	38		0.00		G	NM_033197		31877728	+1	33		46		tier1	no_errors	ENST00000253354	ensembl	human	known	74_37	missense	41.77		SNP	0.001	A	33	46
LTBP1	4052	genome.wustl.edu	37	2	33359996	33359996	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:33359996C>T	ENST00000404816.2	+	5	1523	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	LTBP1_ENST00000402934.1_Silent_p.A64A|LTBP1_ENST00000390003.4_Silent_p.A64A|LTBP1_ENST00000354476.3_Silent_p.A390A|LTBP1_ENST00000407925.1_Silent_p.A64A|LTBP1_ENST00000418533.2_Silent_p.A64A|LTBP1_ENST00000404525.1_Silent_p.A64A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	390					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTCATGCTGCCGACACCCTGA	0.522													ENSG00000049323																																					0													89.0	73.0	79.0					2																	33359996		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1170C>T	2.37:g.33359996C>T			A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A390	ENST00000404816.2	37	c.1170	CCDS33177.2	2																																																																																			-	LTBP1	-	NULL		0.522	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	0	0		33	33		0.00		C	NM_206943		33359996	+1	11		25		tier1	no_errors	ENST00000354476	ensembl	human	known	74_37	silent	30.56		SNP	0.995	T	11	25
PSTPIP1	9051	genome.wustl.edu	37	15	77317931	77317931	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:77317931G>A	ENST00000558012.1	+	5	829	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E114K|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E113K|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E114K	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	114					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						GAGGCAGAAGGAGCAGAGGAA	0.637													ENSG00000140368																																					0													19.0	20.0	20.0					15																	77317931		1999	4065	6064	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.340G>A	15.37:g.77317931G>A	ENSP00000452746:p.Glu114Lys		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.E179K	ENST00000558012.1	37	c.535	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907020	0.92107	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.38240	1.15;2.7	5.12	5.12	0.69794	Prismane-like (1);	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.85462	2.755	0.80722	D	1	P;D;D;P	0.89917	0.498;1.0;0.997;0.884	P;D;D;P	0.91635	0.646;0.999;0.985;0.517	T	0.62642	-0.6811	10	0.20519	T	0.43	-6.8982	17.347	0.87312	0.0:0.0:1.0:0.0	.	114;113;114;114	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	K	114;113	ENSP00000368914:E114K;ENSP00000267939:E113K	ENSP00000267939:E113K	E	+	1	0	PSTPIP1	75104986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.172000	0.89677	2.388000	0.81334	0.563000	0.77884	GAG	-	PSTPIP1	-	superfamily_Prismane-like		0.637	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	0	0		40	40		0.00		G	NM_003978		77317931	+1	12		27		tier1	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	30.77		SNP	1.000	A	12	27
TDRD15	100129278	genome.wustl.edu	37	2	21360749	21360749	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:21360749C>T	ENST00000405799.1	+	4	740	c.410C>T	c.(409-411)tCc>tTc	p.S137F				B5MCY1	TDR15_HUMAN	tudor domain containing 15	137							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										GAAAAATGGTCCCCTAAAGCT	0.393													ENSG00000218819																																					0																																										SO:0001583	missense	0			-			2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.410C>T	2.37:g.21360749C>T	ENSP00000384376:p.Ser137Phe			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.S137F	ENST00000405799.1	37	c.410		2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816167	0.50527	.	.	ENSG00000218819	ENST00000405799	T	0.22336	1.96	5.25	5.25	0.73442	.	.	.	.	.	T	0.40067	0.1102	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48747	-0.9008	5	0.66056	D	0.02	-6.3931	15.4733	0.75456	0.0:0.8515:0.1485:0.0	.	.	.	.	F	137	ENSP00000384376:S137F	ENSP00000384376:S137F	S	+	2	0	AC010872.2	21214254	0.994000	0.37717	1.000000	0.80357	0.847000	0.48162	2.495000	0.45337	2.432000	0.82394	0.544000	0.68410	TCC	-	TDRD15	-	NULL		0.393	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	0	0		105	105		0.00		C			21360749	+1	12		125		tier1	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	8.76		SNP	0.984	T	12	125
SNHG14	104472715	genome.wustl.edu	37	15	25453150	25453150	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:25453150C>T	ENST00000424208.1	+	0	2384				SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTTCCTGGAGCCCTGGTCTCC	0.612													ENSG00000224078																																					0																																												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.25453150C>T				R	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			-	SNHG14	-	-		0.612	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	0	0		46	46		0.00		C			25453150	+1	15		15		tier1	no_errors	ENST00000424333	ensembl	human	known	74_37	rna	50.00		SNP	0.000	T	15	15
OR51B5	282763	genome.wustl.edu	37	11	5363996	5363996	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:5363996C>T	ENST00000300773.2	-	1	813	c.759G>A	c.(757-759)gtG>gtA	p.V253V	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	253					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAATCCAATCACTGTGACAT	0.448													ENSG00000242180																																					0													110.0	105.0	107.0					11																	5363996		2201	4297	6498	SO:0001819	synonymous_variant	0			-	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.759G>A	11.37:g.5363996C>T			B2RN59	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V253	ENST00000300773.2	37	c.759	CCDS31378.1	11																																																																																			-	OR51B5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.448	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	HGNC	protein_coding	OTTHUMT00000142975.1	0	0		39	39		0.00		C	NM_001005567		5363996	-1	20		42		tier1	no_errors	ENST00000300773	ensembl	human	known	74_37	silent	32.26		SNP	0.011	T	20	42
RAB3GAP1	22930	genome.wustl.edu	37	2	135881809	135881809	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:135881809C>T	ENST00000264158.8	+	9	866	c.823C>T	c.(823-825)Cct>Tct	p.P275S	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P231S|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P275S|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	275					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CTGCGAAGATCCTATTAGGTG	0.358													ENSG00000115839																																					0													126.0	131.0	129.0					2																	135881809		2203	4300	6503	SO:0001583	missense	0			-	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.823C>T	2.37:g.135881809C>T	ENSP00000264158:p.Pro275Ser		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.P275S	ENST00000264158.8	37	c.823	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158648	0.78226	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.65916	-0.18;-0.18;-0.18	5.49	4.62	0.57501	.	0.098474	0.64402	N	0.000001	T	0.76069	0.3936	M	0.63428	1.95	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78056	-0.2353	10	0.56958	D	0.05	-15.6727	14.5714	0.68213	0.0:0.9294:0.0:0.0706	.	275;275	C9J837;Q15042	.;RB3GP_HUMAN	S	275;231;275	ENSP00000264158:P275S;ENSP00000444306:P231S;ENSP00000411418:P275S	ENSP00000264158:P275S	P	+	1	0	RAB3GAP1	135598279	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.997000	0.70646	1.449000	0.47699	0.557000	0.71058	CCT	-	RAB3GAP1	-	NULL		0.358	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	0	0		155	155		0.00		C	NM_012233		135881809	+1	60		88		tier1	no_errors	ENST00000264158	ensembl	human	known	74_37	missense	40.54		SNP	1.000	T	60	88
LOC284379	284379	genome.wustl.edu	37	19	54103593	54103593	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:54103593G>A	ENST00000600193.1	-	4	516	c.409C>T	c.(409-411)Cct>Tct	p.P137S																								AAGGGACTAGGGATGTTTTCA	0.483													ENSG00000268864																																					0																																										SO:0001583	missense	0			-																												ENST00000600193.1:c.409C>T	19.37:g.54103593G>A	ENSP00000469517:p.Pro137Ser			Missense_Mutation	SNP	NULL	p.P137S	ENST00000600193.1	37	c.409		19																																																																																			-	CTB-167G5.5	-	NULL		0.483	CTB-167G5.5-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000268864	Clone_based_vega_gene	protein_coding	OTTHUMT00000464983.1	0	0		79	79		0.00		G			54103593	-1	17		73		tier1	no_errors	ENST00000600193	ensembl	human	putative	74_37	missense	18.89		SNP	0.000	A	17	73
C9orf50	375759	genome.wustl.edu	37	9	132375485	132375485	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:132375485C>T	ENST00000372478.4	-	6	1290	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	363										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				GGCTGCTGTTCATGGAGGTGT	0.622													ENSG00000179058																																					0													44.0	43.0	43.0					9																	132375485		2203	4300	6503	SO:0001583	missense	0			-	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1089G>A	9.37:g.132375485C>T	ENSP00000361556:p.Met363Ile		Q2M1I2|Q8NA65	Missense_Mutation	SNP	NULL	p.M363I	ENST00000372478.4	37	c.1089	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399657	0.25291	.	.	ENSG00000179058	ENST00000372478	T	0.17370	2.28	3.3	2.37	0.29283	.	0.878208	0.09433	N	0.802785	T	0.11367	0.0277	N	0.24115	0.695	0.09310	N	1	B	0.33171	0.4	B	0.30646	0.118	T	0.27400	-1.0075	10	0.37606	T	0.19	-5.2022	8.4107	0.32642	0.0:0.7583:0.2416:0.0	.	363	Q5SZB4	CI050_HUMAN	I	363	ENSP00000361556:M363I	ENSP00000361556:M363I	M	-	3	0	C9orf50	131415306	0.007000	0.16637	0.003000	0.11579	0.260000	0.26232	1.117000	0.31234	0.930000	0.37217	0.442000	0.29010	ATG	-	C9orf50	-	NULL		0.622	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	0	0		89	89		0.00		C	NM_199350		132375485	-1	42		73		tier1	no_errors	ENST00000372478	ensembl	human	known	74_37	missense	36.52		SNP	0.004	T	42	73
KIAA0907	22889	genome.wustl.edu	37	1	155891652	155891652	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155891652C>T	ENST00000368321.3	-	9	1035	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368319.3_Splice_Site_p.A338T|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Splice_Site_p.G338S	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	338	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ATGTACACACCTGGTAAAGGT	0.383													ENSG00000132680																																					0													86.0	86.0	86.0					1																	155891652		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1012+1G>A	1.37:g.155891652C>T			O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.G338S	ENST00000368321.3	37	c.1012	CCDS30885.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.544143|4.544143	0.86022|0.86022	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368319|ENST00000368321;ENST00000368320	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.160586	.|0.56097	.|D	.|0.000031	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.29908|0.29908	0.895|0.895	0.20975|0.20975	N|N	0.999814|0.999814	D|P;P	0.60575|0.47962	0.988|0.844;0.903	P|P;P	0.62885|0.56398	0.908|0.797;0.795	T|T	0.21109|0.21109	-1.0255|-1.0255	7|8	.|.	.|.	.|.	-7.9971|-7.9971	18.1253|18.1253	0.89584|0.89584	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	338|338;338	Q7Z7F0-3|Q7Z7F0-2;Q7Z7F0	.|.;K0907_HUMAN	T|S	338|338	.|.	.|.	A|G	-|-	1|1	0|0	KIAA0907|KIAA0907	154158276|154158276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.652000|5.652000	0.67959|0.67959	2.821000|2.821000	0.97095|0.97095	0.484000|0.484000	0.47621|0.47621	GCA|GGC	-	KIAA0907	-	NULL		0.383	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	0	0		100	100		0.00		C	NM_014949	Missense_Mutation	155891652	-1	70		76		tier1	no_errors	ENST00000368321	ensembl	human	known	74_37	missense	47.62		SNP	1.000	T	70	76
ARHGAP30	257106	genome.wustl.edu	37	1	161018938	161018938	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:161018938G>A	ENST00000368013.3	-	12	2193	c.1873C>T	c.(1873-1875)Cca>Tca	p.P625S	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P625S|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P448S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	625					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCCAGATTGGGGGTTTAGGT	0.587													ENSG00000186517																																					0													142.0	141.0	141.0					1																	161018938		2203	4300	6503	SO:0001583	missense	0			-	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1873C>T	1.37:g.161018938G>A	ENSP00000356992:p.Pro625Ser		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P625S	ENST00000368013.3	37	c.1873	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	2.978	-0.211008	0.06140	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.29142	3.13;3.11;1.58	5.18	3.22	0.36961	.	1.403590	0.04868	N	0.445478	T	0.12475	0.0303	L	0.60455	1.87	0.09310	N	1	B;B	0.32467	0.309;0.372	B;B	0.29077	0.055;0.098	T	0.38308	-0.9667	10	0.15066	T	0.55	.	10.3496	0.43927	0.0:0.0:0.6289:0.3711	.	625;625	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	S	625;625;448	ENSP00000356995:P625S;ENSP00000356992:P625S;ENSP00000356994:P448S	ENSP00000356992:P625S	P	-	1	0	ARHGAP30	159285562	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.913000	0.28611	0.515000	0.28320	-0.324000	0.08512	CCA	-	ARHGAP30	-	NULL		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	0	0		32	32		0.00		G	NM_181720		161018938	-1	16		20		tier1	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	44.44		SNP	0.002	A	16	20
NPHS1	4868	genome.wustl.edu	37	19	36317546	36317546	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:36317546C>T	ENST00000378910.5	-	29	3595	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E	NPHS1_ENST00000353632.6_Splice_Site_p.G1159E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1199	Binds to NPHS2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCCAGGGTCCCTGACAGGC	0.517													ENSG00000161270																																					0													71.0	68.0	69.0					19																	36317546		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3595-1G>A	19.37:g.36317546C>T			A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1199E	ENST00000378910.5	37	c.3596	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	C	9.299	1.052724	0.19907	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.74315	-0.58;-0.83	4.83	-1.92	0.07618	.	1.011570	0.07910	N	0.974087	T	0.52354	0.1729	L	0.27053	0.805	0.21473	N	0.999675	B	0.28713	0.22	B	0.19148	0.024	T	0.26677	-1.0096	10	0.15499	T	0.54	-1.8577	4.7257	0.12939	0.0:0.3905:0.1609:0.4486	.	1199	O60500	NPHN_HUMAN	E	1199;1159	ENSP00000368190:G1199E;ENSP00000343634:G1159E	ENSP00000343634:G1159E	G	-	2	0	NPHS1	41009386	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.225000	0.09151	-0.456000	0.07043	0.644000	0.83932	GGA	-	NPHS1	-	NULL		0.517	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	0	0		72	72		0.00		C		Missense_Mutation	36317546	-1	14		83		tier1	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	14.43		SNP	0.000	T	14	83
PAM	5066	genome.wustl.edu	37	5	102201874	102201874	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:102201874C>T	ENST00000438793.3	+	0	445				PAM_ENST00000274392.9_5'UTR|PAM_ENST00000455264.2_5'UTR|PAM_ENST00000304400.7_5'UTR|PAM_ENST00000348126.2_5'UTR|PAM_ENST00000346918.2_5'UTR|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000513648.1_3'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase						central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CCGGTCCTCTCCCGGCGGGGT	0.697													ENSG00000145730																																					0													32.0	30.0	31.0					5																	102201874		2202	4295	6497	SO:0001623	5_prime_UTR_variant	0			-	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.-26C>T	5.37:g.102201874C>T			A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	R	SNP	-	NULL	ENST00000438793.3	37	NULL	CCDS54885.1	5																																																																																			-	PAM	-	-		0.697	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	0	0		31	31		0.00		C	NM_000919		102201874	+1	10		43		tier1	no_errors	ENST00000509523	ensembl	human	known	74_37	rna	18.87		SNP	0.037	T	10	43
NFASC	23114	genome.wustl.edu	37	1	204953289	204953289	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:204953289G>A	ENST00000401399.1	+	20	2669				NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367171.4_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367172.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367170.4_Intron			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCAGCTCCGGACTCACCTAA	0.537													ENSG00000163531																																					0													48.0	45.0	46.0					1																	204953289		2203	4300	6503	SO:0001627	intron_variant	0			-	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2470+2141G>A	1.37:g.204953289G>A			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	R	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			-	NFASC	-	-		0.537	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	0	0		41	41		0.00		G	NM_001005388		204953289	+1	42		28		tier1	no_errors	ENST00000471392	ensembl	human	known	74_37	rna	60.00		SNP	0.000	A	42	28
HSPH1	10808	genome.wustl.edu	37	13	31725865	31725865	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:31725865C>T	ENST00000320027.5	-	6	888	c.544G>A	c.(544-546)Gga>Aga	p.G182R	HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380405.4_Missense_Mutation_p.G182R|HSPH1_ENST00000445273.2_Missense_Mutation_p.G184R|HSPH1_ENST00000380406.5_Missense_Mutation_p.G141R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	182					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTATAAATTCCGTAATTCAAA	0.363													ENSG00000120694																																					0													68.0	66.0	66.0					13																	31725865		2203	4300	6503	SO:0001583	missense	0			-	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.544G>A	13.37:g.31725865C>T	ENSP00000318687:p.Gly182Arg		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G184R	ENST00000320027.5	37	c.550	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.109052	0.94292	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.62129	-0.6919	10	0.87932	D	0	-29.4283	20.4379	0.99098	0.0:1.0:0.0:0.0	.	141;184;182;182	Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;HS105_HUMAN	R	182;182;141;184;233	ENSP00000318687:G182R;ENSP00000369768:G182R;ENSP00000369769:G141R;ENSP00000396090:G184R	ENSP00000318687:G182R	G	-	1	0	HSPH1	30623865	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.838000	0.97847	0.585000	0.79938	GGA	-	HSPH1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.363	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	0	0		55	55		0.00		C			31725865	-1	10		36		tier1	no_errors	ENST00000445273	ensembl	human	known	74_37	missense	21.74		SNP	1.000	T	10	36
SH2D7	646892	genome.wustl.edu	37	15	78390433	78390433	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:78390433C>T	ENST00000328828.5	+	3	429	c.429C>T	c.(427-429)ccC>ccT	p.P143P	SH2D7_ENST00000409568.2_Silent_p.P7P	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	143										endometrium(2)|kidney(2)|lung(3)	7						CTGCCTGCCCCCGGGTAGGCG	0.622													ENSG00000183476																																					0													21.0	24.0	23.0					15																	78390433		2019	4165	6184	SO:0001819	synonymous_variant	0			-		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.429C>T	15.37:g.78390433C>T				Silent	SNP	NULL	p.P7	ENST00000328828.5	37	c.21	CCDS45315.1	15																																																																																			-	SH2D7	-	NULL		0.622	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	0	0		8	8		0.00		C	NM_001101404		78390433	+1	8		4		tier1	no_errors	ENST00000409568	ensembl	human	putative	74_37	silent	66.67		SNP	0.998	T	8	4
SPR	6697	genome.wustl.edu	37	2	73118669	73118669	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:73118669C>T	ENST00000234454.5	+	0	862				SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)						cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						ACAAATAAGCCCATGTTTTTG	0.527													ENSG00000116096																																					0													67.0	62.0	64.0					2																	73118669		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.*3C>T	2.37:g.73118669C>T			A8K741|D6W5H2|Q53GI9|Q9UBB1	R	SNP	-	NULL	ENST00000234454.5	37	NULL	CCDS1920.1	2																																																																																			-	SPR	-	-		0.527	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPR	HGNC	protein_coding	OTTHUMT00000251993.2	0	0		100	100		0.00		C			73118669	+1	62		105		tier1	no_errors	ENST00000498749	ensembl	human	putative	74_37	rna	37.13		SNP	0.001	T	62	105
EPHA4	2043	genome.wustl.edu	37	2	222321413	222321413	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:222321413G>A	ENST00000281821.2	-	7	1564	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	EPHA4_ENST00000409854.1_Missense_Mutation_p.S508F|EPHA4_ENST00000392071.4_Missense_Mutation_p.S457F|EPHA4_ENST00000409938.1_Missense_Mutation_p.S508F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	508	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GAAAACATAGGAAGTGAGAGG	0.498													ENSG00000116106																																					0													148.0	130.0	136.0					2																	222321413		2203	4300	6503	SO:0001583	missense	0			-	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1523C>T	2.37:g.222321413G>A	ENSP00000281821:p.Ser508Phe		A8K2P1|B2R601|B7Z6Q8|Q2M380	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_2,pfam_SAM_type1,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S508F	ENST00000281821.2	37	c.1523	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945006	0.53079	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052034	0.85682	D	0.000000	T	0.58481	0.2125	L	0.50993	1.605	0.80722	D	1	B	0.29590	0.25	B	0.41691	0.364	T	0.50566	-0.8813	10	0.23891	T	0.37	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	508	P54764	EPHA4_HUMAN	F	508;508;508;457	ENSP00000281821:S508F;ENSP00000386276:S508F;ENSP00000386829:S508F;ENSP00000375923:S457F	ENSP00000281821:S508F	S	-	2	0	EPHA4	222029657	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.636000	0.83301	2.724000	0.93272	0.563000	0.77884	TCC	-	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	0	0		83	83		0.00		G			222321413	-1	13		74		tier1	no_errors	ENST00000281821	ensembl	human	known	74_37	missense	14.77		SNP	1.000	A	13	74
TCAM1P	146771	genome.wustl.edu	37	17	61937379	61937379	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:61937379C>T	ENST00000478379.1	+	0	875					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		TGAGCTCCTTCCTTTCCTGGG	0.552													ENSG00000240280																																					0																																												0			-	AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61937379C>T				R	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			-	TCAM1P	-	-		0.552	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	0	0		41	41		0.00		C			61937379	+1	16		55		tier1	no_errors	ENST00000478379	ensembl	human	known	74_37	rna	22.54		SNP	0.005	T	16	55
PTH1R	5745	genome.wustl.edu	37	3	46944150	46944150	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:46944150C>T	ENST00000313049.5	+	12	1549	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PTH1R_ENST00000449590.1_Missense_Mutation_p.S449F|PTH1R_ENST00000418619.1_Missense_Mutation_p.S449F|PTH1R_ENST00000430002.2_Missense_Mutation_p.S449F			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	449					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CTCTTCAACTCCTTCCAGGTG	0.587													ENSG00000160801																																					0													83.0	73.0	76.0					3																	46944150		2203	4300	6503	SO:0001583	missense	0			-		CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1346C>T	3.37:g.46944150C>T	ENSP00000321999:p.Ser449Phe		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.S449F	ENST00000313049.5	37	c.1346	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837046	0.91117	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;D	0.91351	0.45;0.45;0.45;0.45;0.45;-2.83	4.92	4.92	0.64577	GPCR, family 2-like (1);	.	.	.	.	D	0.96947	0.9003	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98149	1.0440	9	0.87932	D	0	.	17.2871	0.87145	0.0:1.0:0.0:0.0	.	449	Q03431	PTH1R_HUMAN	F	449;449;449;449;449;727;21	ENSP00000402723:S449F;ENSP00000411424:S449F;ENSP00000400977:S449F;ENSP00000413774:S449F;ENSP00000321999:S449F;ENSP00000396176:S21F	ENSP00000321999:S449F	S	+	2	0	PTH1R	46919154	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.845000	0.69437	2.553000	0.86117	0.655000	0.94253	TCC	-	PTH1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.587	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	0	0		24	24		0.00		C	NM_000316		46944150	+1	21		19		tier1	no_errors	ENST00000313049	ensembl	human	known	74_37	missense	52.50		SNP	1.000	T	21	19
INPP1	3628	genome.wustl.edu	37	2	191227390	191227390	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:191227390C>T	ENST00000322522.4	+	3	698	c.242C>T	c.(241-243)tCc>tTc	p.S81F	INPP1_ENST00000417336.1_Intron|INPP1_ENST00000392329.2_Missense_Mutation_p.S81F|INPP1_ENST00000541441.1_Missense_Mutation_p.S81F	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	81					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			GGAGAAGAATCCAATGAGTTT	0.313													ENSG00000151689																									Melanoma(130;184 1743 2185 19805 38428)												0													57.0	65.0	62.0					2																	191227390		2202	4292	6494	SO:0001583	missense	0			-		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.242C>T	2.37:g.191227390C>T	ENSP00000325423:p.Ser81Phe			Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.S81F	ENST00000322522.4	37	c.242	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744870	0.89663	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000413239;ENST00000431594;ENST00000444194;ENST00000458647;ENST00000423767;ENST00000409027	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.61471	-0.7056	10	0.62326	D	0.03	-20.9495	17.7102	0.88319	0.0:1.0:0.0:0.0	.	81	P49441	INPP_HUMAN	F	81	ENSP00000376142:S81F;ENSP00000325423:S81F;ENSP00000440650:S81F;ENSP00000409786:S81F;ENSP00000404732:S81F;ENSP00000392814:S81F;ENSP00000395424:S81F;ENSP00000387079:S81F	ENSP00000325423:S81F	S	+	2	0	INPP1	190935635	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.002000	0.70693	2.787000	0.95880	0.585000	0.79938	TCC	-	INPP1	-	pfam_Inositol_monophosphatase		0.313	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2	0	0		46	46		0.00		C			191227390	+1	13		43		tier1	no_errors	ENST00000322522	ensembl	human	known	74_37	missense	23.21		SNP	1.000	T	13	43
FCAR	2204	genome.wustl.edu	37	19	55385770	55385770	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55385770C>T	ENST00000355524.3	+	1	35	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	FCAR_ENST00000391725.3_Silent_p.L9L|FCAR_ENST00000469767.1_Silent_p.L9L|FCAR_ENST00000391724.3_Silent_p.L9L|FCAR_ENST00000391723.3_Silent_p.L9L|FCAR_ENST00000353758.4_Silent_p.L9L|FCAR_ENST00000345937.4_Silent_p.L9L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.L9L|FCAR_ENST00000391726.3_Silent_p.L9L	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	9					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GACCACCCTCCTGTGTCTTGG	0.463													ENSG00000186431																																					0													128.0	115.0	119.0					19																	55385770		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.25C>T	19.37:g.55385770C>T			Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Silent	SNP	smart_Ig_sub	p.L9	ENST00000355524.3	37	c.25	CCDS12907.1	19																																																																																			-	FCAR	-	NULL		0.463	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCAR	HGNC	protein_coding	OTTHUMT00000141243.1	0	0		99	99		0.00		C	NM_002000		55385770	+1	11		67		tier1	no_errors	ENST00000355524	ensembl	human	known	74_37	silent	14.10		SNP	0.000	T	11	67
DPH2	1802	genome.wustl.edu	37	1	44437598	44437598	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:44437598C>T	ENST00000255108.3	+	4	1196	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.P207S|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	342					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ATTAGCCTGTCCTCTGGGTGC	0.607													ENSG00000132768																																					0													106.0	98.0	101.0					1																	44437598		2203	4300	6503	SO:0001583	missense	0			-	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1024C>T	1.37:g.44437598C>T	ENSP00000255108:p.Pro342Ser		A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.P342S	ENST00000255108.3	37	c.1024	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908920	0.52439	.	.	ENSG00000132768	ENST00000255108;ENST00000412950;ENST00000459879	T;T;T	0.70749	-0.51;-0.51;-0.51	4.58	4.58	0.56647	.	0.056226	0.64402	D	0.000001	D	0.83308	0.5226	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.96	D	0.84160	0.0428	10	0.45353	T	0.12	-12.3625	14.4028	0.67060	0.0:0.8404:0.1596:0.0	.	207;342	B4DNI8;Q9BQC3	.;DPH2_HUMAN	S	342;207;115	ENSP00000255108:P342S;ENSP00000413862:P207S;ENSP00000432162:P115S	ENSP00000255108:P342S	P	+	1	0	DPH2	44210185	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	4.664000	0.61540	2.389000	0.81357	0.450000	0.29827	CCT	-	DPH2	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu		0.607	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	0	0		19	19		0.00		C	NM_001384		44437598	+1	14		30		tier1	no_errors	ENST00000255108	ensembl	human	known	74_37	missense	30.43		SNP	1.000	T	14	30
IKBKAP	8518	genome.wustl.edu	37	9	111655349	111655349	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:111655349G>A	ENST00000374647.5	-	27	3182	c.2875C>T	c.(2875-2877)Cca>Tca	p.P959S	IKBKAP_ENST00000537196.1_Missense_Mutation_p.P610S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	959					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCATTCTGGGAAGTACTCA	0.373													ENSG00000070061																																					0													79.0	80.0	80.0					9																	111655349		2203	4300	6503	SO:0001583	missense	0			-	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2875C>T	9.37:g.111655349G>A	ENSP00000363779:p.Pro959Ser		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.P959S	ENST00000374647.5	37	c.2875	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	8.843	0.942651	0.18281	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.25250	2.19;1.81	5.56	-0.826	0.10805	.	0.475237	0.22600	N	0.057970	T	0.09598	0.0236	N	0.12569	0.235	0.24786	N	0.99279	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	10	0.13470	T	0.59	1.0E-4	4.3839	0.11307	0.4254:0.0:0.4197:0.1549	.	959	O95163	ELP1_HUMAN	S	959;610	ENSP00000363779:P959S;ENSP00000439367:P610S	ENSP00000363779:P959S	P	-	1	0	IKBKAP	110695170	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	0.751000	0.26348	-0.196000	0.10366	0.585000	0.79938	CCA	-	IKBKAP	-	pirsf_IKI3		0.373	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	0	0		44	44		0.00		G			111655349	-1	20		39		tier1	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	33.90		SNP	0.987	A	20	39
DBN1	1627	genome.wustl.edu	37	5	176894047	176894047	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:176894047C>T	ENST00000309007.5	-	7	791	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	DBN1_ENST00000292385.5_Missense_Mutation_p.R193Q|DBN1_ENST00000393565.1_Missense_Mutation_p.R191Q	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	191					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCTCCTTCCGCAGCTCTTC	0.677													ENSG00000113758																																					0													68.0	72.0	71.0					5																	176894047		2203	4300	6503	SO:0001583	missense	0			-		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.572G>A	5.37:g.176894047C>T	ENSP00000308532:p.Arg191Gln		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.R193Q	ENST00000309007.5	37	c.578	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.596906	0.96602	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.41400	1.0;1.0;1.68	4.99	4.99	0.66335	.	0.104177	0.64402	D	0.000009	T	0.67059	0.2853	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.984;0.994;0.997	T	0.71477	-0.4581	10	0.87932	D	0	-20.6955	18.0729	0.89417	0.0:1.0:0.0:0.0	.	141;191;191;193	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	Q	191;193;191;190	ENSP00000308532:R191Q;ENSP00000292385:R193Q;ENSP00000377195:R191Q	ENSP00000292385:R193Q	R	-	2	0	DBN1	176826653	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.064000	0.64338	2.586000	0.87340	0.655000	0.94253	CGG	-	DBN1	-	NULL		0.677	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	0	0		14	14		0.00		C	NM_080881		176894047	-1	11		13		tier1	no_errors	ENST00000292385	ensembl	human	known	74_37	missense	45.83		SNP	1.000	T	11	13
DPF3	8110	genome.wustl.edu	37	14	73137309	73137309	+	Intron	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:73137309A>T	ENST00000556509.1	-	8	871				DPF3_ENST00000541685.1_3'UTR|DPF3_ENST00000557704.1_5'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)		GCTTGCCTCTAAACAGGATAT	0.488													ENSG00000205683																																					0																																										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+3638T>A	14.37:g.73137309A>T			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	R	SNP	-	NULL	ENST00000556509.1	37	NULL		14																																																																																			-	DPF3	-	-		0.488	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	0	0		104	104		0.00		A			73137309	-1	57		43		tier1	no_errors	ENST00000557704	ensembl	human	known	74_37	rna	57.00		SNP	0.038	T	57	43
HSPG2	3339	genome.wustl.edu	37	1	22176547	22176547	+	Missense_Mutation	SNP	G	G	A	rs377464593		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:22176547G>A	ENST00000374695.3	-	57	7512	c.7433C>T	c.(7432-7434)cCg>cTg	p.P2478L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2478	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGCCGGGCCGGGAGGCTGCC	0.662													ENSG00000142798																																					0								G	LEU/PRO	2,4404	2.1+/-5.4	0,2,2201	94.0	109.0	104.0		7433	5.2	0.8	1		104	0,8600		0,0,4300	no	missense	HSPG2	NM_005529.5	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2478/4392	22176547	2,13004	2203	4300	6503	SO:0001583	missense	0			-	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7433C>T	1.37:g.22176547G>A	ENSP00000363827:p.Pro2478Leu		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.P2478L	ENST00000374695.3	37	c.7433	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368336	0.61513	4.54E-4	0.0	ENSG00000142798	ENST00000374695	T	0.66815	-0.23	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37053	N	0.002276	D	0.82490	0.5048	M	0.86953	2.85	0.45962	D	0.998782	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84843	0.0809	10	0.66056	D	0.02	.	11.3479	0.49571	0.0:0.0:0.8187:0.1813	.	418;2478	Q59EG0;P98160	.;PGBM_HUMAN	L	2478	ENSP00000363827:P2478L	ENSP00000363827:P2478L	P	-	2	0	HSPG2	22049134	1.000000	0.71417	0.796000	0.32109	0.620000	0.37586	4.693000	0.61753	2.421000	0.82119	0.561000	0.74099	CCG	-	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	0	0		32	32		0.00		G	NM_005529		22176547	-1	14		32		tier1	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	30.43		SNP	0.891	A	14	32
KCNT2	343450	genome.wustl.edu	37	1	196398872	196398872	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:196398872T>C	ENST00000294725.9	-	9	1569	c.654A>G	c.(652-654)caA>caG	p.Q218Q	KCNT2_ENST00000367431.4_Silent_p.Q218Q|KCNT2_ENST00000367433.5_Silent_p.Q218Q|KCNT2_ENST00000609185.1_Silent_p.Q218Q|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	218					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						GTTCCAGATGTTGGATCCCAC	0.373													ENSG00000162687																																					0													67.0	63.0	65.0					1																	196398872		2203	4299	6502	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.654A>G	1.37:g.196398872T>C			Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.Q218	ENST00000294725.9	37	c.654	CCDS1384.1	1																																																																																			-	KCNT2	-	pfam_2pore_dom_K_chnl_dom		0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	0	0		127	127		0.00		T	NM_198503		196398872	-1	41		97		tier1	no_errors	ENST00000294725	ensembl	human	known	74_37	silent	29.71		SNP	0.977	C	41	97
ZNF746	155061	genome.wustl.edu	37	7	149171627	149171627	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149171627G>A	ENST00000340622.3	-	7	2063	c.1783C>T	c.(1783-1785)Ccg>Tcg	p.P595S	ZNF746_ENST00000458143.2_Missense_Mutation_p.P596S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	595					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCTCGGGCCGGGGTCTTGGCG	0.677													ENSG00000181220																																					0													30.0	28.0	29.0					7																	149171627		2196	4294	6490	SO:0001583	missense	0			-	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1783C>T	7.37:g.149171627G>A	ENSP00000345140:p.Pro595Ser		A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P596S	ENST00000340622.3	37	c.1786	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773932	0.31411	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.09538	3.01;2.97	5.58	2.56	0.30785	.	0.292957	0.24312	N	0.039621	T	0.04907	0.0132	N	0.14661	0.345	0.33824	D	0.629354	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.32322	-0.9911	10	0.13108	T	0.6	-7.78	5.4552	0.16586	0.0807:0.265:0.531:0.1233	.	596;595	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	S	595;596	ENSP00000345140:P595S;ENSP00000395007:P596S	ENSP00000345140:P595S	P	-	1	0	ZNF746	148802560	0.000000	0.05858	0.693000	0.30195	0.759000	0.43091	-0.024000	0.12435	0.704000	0.31869	0.462000	0.41574	CCG	-	ZNF746	-	NULL		0.677	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	0	0		12	12		0.00		G	NM_152557		149171627	-1	6		13		tier1	no_errors	ENST00000458143	ensembl	human	known	74_37	missense	31.58		SNP	0.896	A	6	13
MAEL	84944	genome.wustl.edu	37	1	166991181	166991181	+	3'UTR	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:166991181A>C	ENST00000367872.4	+	0	1638				MAEL_ENST00000367870.2_3'UTR|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer						cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ATCAATGACAAATGTCACTAC	0.308													ENSG00000143194																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.*89A>C	1.37:g.166991181A>C			B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	R	SNP	-	NULL	ENST00000367872.4	37	NULL	CCDS1257.1	1																																																																																			-	MAEL	-	-		0.308	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	0	0		15	15		0.00		A	NM_032858		166991181	+1	7		3		tier1	no_errors	ENST00000491055	ensembl	human	known	74_37	rna	70.00		SNP	0.351	C	7	3
FAP	2191	genome.wustl.edu	37	2	163099915	163099915	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:163099915G>A	ENST00000188790.4	-	0	130				FAP_ENST00000493182.1_5'UTR|FAP_ENST00000443424.1_5'UTR	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCGTTGAAAAGGACCAAGTCT	0.398													ENSG00000078098																																					0													147.0	114.0	124.0					2																	163099915		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			-	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.-78C>T	2.37:g.163099915G>A				R	SNP	-	NULL	ENST00000188790.4	37	NULL	CCDS33311.1	2																																																																																			-	FAP	-	-		0.398	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	0	0		30	30		0.00		G			163099915	-1	4		25		tier1	no_errors	ENST00000493182	ensembl	human	putative	74_37	rna	13.79		SNP	1.000	A	4	25
CFTR	1080	genome.wustl.edu	37	7	117227801	117227801	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:117227801C>T	ENST00000003084.6	+	12	1725	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	CFTR_ENST00000454343.1_Silent_p.S470S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	531	ABC transporter 1. {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)	AGGACATCTCCAAGTTTGCAG	0.348									Cystic Fibrosis				ENSG00000001626																																					0													106.0	108.0	107.0					7																	117227801		2203	4300	6503	SO:0001819	synonymous_variant	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.1593C>T	7.37:g.117227801C>T			Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	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.S531	ENST00000003084.6	37	c.1593	CCDS5773.1	7																																																																																			-	CFTR	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel		0.348	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	0	0		53	53		0.00		C	NM_000492		117227801	+1	26		38		tier1	no_errors	ENST00000003084	ensembl	human	known	74_37	silent	40.62		SNP	0.996	T	26	38
HELZ2	85441	genome.wustl.edu	37	20	62193253	62193253	+	Missense_Mutation	SNP	G	G	A	rs200091305	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:62193253G>A	ENST00000467148.1	-	11	6683	c.6614C>T	c.(6613-6615)cCc>cTc	p.P2205L	HELZ2_ENST00000427522.2_Missense_Mutation_p.P1636L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2205	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCCCACGGGGGGGGCCTCC	0.637													ENSG00000130589																																					0													6.0	8.0	7.0					20																	62193253		2136	4226	6362	SO:0001583	missense	0			-	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6614C>T	20.37:g.62193253G>A	ENSP00000417401:p.Pro2205Leu		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.P2205L	ENST00000467148.1	37	c.6614	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489718	0.26686	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80304	-1.36;-1.23	3.88	-2.49	0.06403	ATPase, AAA+ type, core (1);	1.293940	0.05117	N	0.489975	T	0.77718	0.4172	M	0.75447	2.3	0.09310	N	1	B;B	0.32101	0.356;0.01	B;B	0.33960	0.173;0.014	T	0.64118	-0.6482	10	0.62326	D	0.03	.	4.3313	0.11064	0.0825:0.4436:0.1572:0.3168	.	2205;1636	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	1636;2205	ENSP00000393257:P1636L;ENSP00000417401:P2205L	ENSP00000393257:P1636L	P	-	2	0	RP4-697K14.7	61663697	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.801000	0.04550	-0.552000	0.06167	-0.676000	0.03789	CCC	-	HELZ2	-	superfamily_P-loop_NTPase		0.637	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	0	0		35	35		0.00		G	NM_001037335		62193253	-1	18		48		tier1	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	27.27		SNP	0.000	A	18	48
RHBDD2	57414	genome.wustl.edu	37	7	75512954	75512954	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:75512954C>T	ENST00000006777.6	+	3	721				RHBDD2_ENST00000428119.1_Intron|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2							Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						GTGTTCTCCCCGGGGAGTGTT	0.562													ENSG00000005486																																					0																																										SO:0001627	intron_variant	0			-	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.587-62C>T	7.37:g.75512954C>T			Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	R	SNP	-	NULL	ENST00000006777.6	37	NULL	CCDS43602.1	7																																																																																			-	RHBDD2	-	-		0.562	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD2	HGNC	protein_coding	OTTHUMT00000344176.1	0	0		50	50		0.00		C	NM_020684		75512954	+1	13		83		tier1	no_errors	ENST00000467406	ensembl	human	putative	74_37	rna	13.54		SNP	0.000	T	13	83
NR1I2	8856	genome.wustl.edu	37	3	119530564	119530564	+	Silent	SNP	G	G	A	rs553589290		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:119530564G>A	ENST00000337940.4	+	4	675	c.627G>A	c.(625-627)aaG>aaA	p.K209K	NR1I2_ENST00000466380.1_Silent_p.K170K|NR1I2_ENST00000393716.2_Silent_p.K170K	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	170	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CCCATTTCAAGAATTTCCGGG	0.498													ENSG00000144852																																					0													87.0	75.0	79.0					3																	119530564		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.627G>A	3.37:g.119530564G>A			Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.K209	ENST00000337940.4	37	c.627	CCDS2995.1	3																																																																																			-	NR1I2	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.498	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	0	0		33	33		0.00		G			119530564	+1	26		29		tier1	no_errors	ENST00000337940	ensembl	human	known	74_37	silent	47.27		SNP	0.997	A	26	29
TBX5	6910	genome.wustl.edu	37	12	114793599	114793599	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:114793599G>A	ENST00000310346.4	-	9	1961	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	TBX5_ENST00000405440.2_Missense_Mutation_p.S432L|TBX5_ENST00000349716.5_Missense_Mutation_p.S382L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	432				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	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)		CAGGGGCCCCGAGGTGAAGTG	0.647													ENSG00000089225																									NSCLC(152;1358 1980 4050 23898 40356)												0													25.0	26.0	26.0					12																	114793599		2203	4298	6501	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.1295C>T	12.37:g.114793599G>A	ENSP00000309913:p.Ser432Leu		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S432L	ENST00000310346.4	37	c.1295	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888701	0.91814	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.60797	0.16;0.16;0.16	5.27	4.38	0.52667	.	0.230621	0.38436	N	0.001691	T	0.72669	0.3489	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71935	-0.4442	10	0.34782	T	0.22	.	13.5027	0.61467	0.0749:0.0:0.9251:0.0	.	432	Q99593	TBX5_HUMAN	L	382;432;329;432	ENSP00000337723:S382L;ENSP00000309913:S432L;ENSP00000384152:S432L	ENSP00000309913:S432L	S	-	2	0	TBX5	113277982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	1.223000	0.43536	0.655000	0.94253	TCG	-	TBX5	-	NULL		0.647	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	0	0		90	90		0.00		G	NM_080717		114793599	-1	25		75		tier1	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	24.75		SNP	1.000	A	25	75
ANKLE2	23141	genome.wustl.edu	37	12	133331453	133331453	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:133331453C>T	ENST00000357997.5	-	2	537	c.448G>A	c.(448-450)Ggt>Agt	p.G150S	ANKLE2_ENST00000539605.1_Missense_Mutation_p.G88S|ANKLE2_ENST00000337516.5_Missense_Mutation_p.G150S	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	150					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCAGAAAAACCAGCCTGATCA	0.527													ENSG00000176915																																					0													67.0	69.0	68.0					12																	133331453		1912	4127	6039	SO:0001583	missense	0			-	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.448G>A	12.37:g.133331453C>T	ENSP00000350686:p.Gly150Ser		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.G150S	ENST00000357997.5	37	c.448	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	C	3.765	-0.048825	0.07407	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.27720	2.08;2.09;1.65	5.62	-5.54	0.02544	.	0.778088	0.12671	N	0.448779	T	0.08358	0.0208	N	0.05124	-0.11	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.002	T	0.33420	-0.9869	10	0.06365	T	0.9	-2.2089	2.8861	0.05661	0.1216:0.3712:0.1189:0.3884	.	150;150	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	S	88;150;150	ENSP00000446268:G88S;ENSP00000350686:G150S;ENSP00000337651:G150S	ENSP00000337651:G150S	G	-	1	0	ANKLE2	131841526	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.325000	0.07976	-0.835000	0.04234	-0.781000	0.03364	GGT	-	ANKLE2	-	NULL		0.527	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	0	0		69	69		0.00		C			133331453	-1	35		49		tier1	no_errors	ENST00000357997	ensembl	human	known	74_37	missense	41.67		SNP	0.000	T	35	49
PDZRN3	23024	genome.wustl.edu	37	3	73433539	73433539	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:73433539G>A	ENST00000263666.4	-	10	2292	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	PDZRN3_ENST00000462146.2_Silent_p.F383F|PDZRN3_ENST00000466780.1_Silent_p.F383F|PDZRN3_ENST00000479530.1_Silent_p.F443F|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.F448F	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	726					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)		TGTAGTTGCGGAAGCCGCTGT	0.597													ENSG00000121440																																					0													47.0	42.0	43.0					3																	73433539		2203	4300	6503	SO:0001819	synonymous_variant	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.2178C>T	3.37:g.73433539G>A			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	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.F726	ENST00000263666.4	37	c.2178	CCDS33789.1	3																																																																																			-	PDZRN3	-	NULL		0.597	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	0	0		20	20		0.00		G	XM_041363		73433539	-1	7		20		tier1	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	25.93		SNP	1.000	A	7	20
OTOG	340990	genome.wustl.edu	37	11	17663754	17663754	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:17663754C>T	ENST00000399391.2	+	52	8412	c.8412C>T	c.(8410-8412)ccC>ccT	p.P2804P	OTOG_ENST00000399397.1_Silent_p.P2731P	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	2804					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						TCCGCTCTCCCATAAGCTGCC	0.647													ENSG00000188162																																					0																																										SO:0001819	synonymous_variant	0			-	AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.8412C>T	11.37:g.17663754C>T			A8MTX6|A8MUJ0|B7WPC4	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.P2804	ENST00000399391.2	37	c.8412	CCDS59225.1	11																																																																																			-	OTOG	-	NULL		0.647	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		0	0		22	22		0.00		C			17663754	+1	8		17		tier1	no_errors	ENST00000399391	ensembl	human	known	74_37	silent	30.77		SNP	1.000	T	8	17
CELA2B	51032	genome.wustl.edu	37	1	15812515	15812515	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:15812515G>A	ENST00000375910.3	+	6	638	c.613G>A	c.(613-615)Ggt>Agt	p.G205S		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CTGTGCTGGGGGTGATGGCGT	0.562													ENSG00000215704																																					0													180.0	178.0	179.0					1																	15812515		2203	4300	6503	SO:0001583	missense	0			-		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.613G>A	1.37:g.15812515G>A	ENSP00000365075:p.Gly205Ser		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G205S	ENST00000375910.3	37	c.613	CCDS30605.1	1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392854	0.62066	.	.	ENSG00000215704	ENST00000375910	D	0.88896	-2.44	3.82	3.82	0.43975	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	U	0.000024	D	0.90998	0.7169	L	0.37466	1.105	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.92066	0.5660	10	0.87932	D	0	.	14.0332	0.64629	0.0:0.0:1.0:0.0	.	205	P08218	CEL2B_HUMAN	S	205	ENSP00000365075:G205S	ENSP00000365075:G205S	G	+	1	0	CELA2B	15685102	1.000000	0.71417	0.664000	0.29753	0.053000	0.15095	8.963000	0.93385	2.053000	0.61076	0.505000	0.49811	GGT	-	CELA2B	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.562	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2B	HGNC	protein_coding	OTTHUMT00000006448.1	0	0		67	67		0.00		G	NM_015849		15812515	+1	43		79		tier1	no_errors	ENST00000375910	ensembl	human	known	74_37	missense	35.25		SNP	0.997	A	43	79
SACS	26278	genome.wustl.edu	37	13	23909098	23909098	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:23909098C>T	ENST00000382292.3	-	9	9190	c.8917G>A	c.(8917-8919)Gat>Aat	p.D2973N	SACS_ENST00000382298.3_Missense_Mutation_p.D2973N|SACS_ENST00000402364.1_Missense_Mutation_p.D2223N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2973					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAATATAAATCTGGCTGTAGA	0.373													ENSG00000151835																																					0													87.0	90.0	89.0					13																	23909098		2203	4299	6502	SO:0001583	missense	0			-	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8917G>A	13.37:g.23909098C>T	ENSP00000371729:p.Asp2973Asn		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.D2973N	ENST00000382292.3	37	c.8917	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	34	5.291705	0.95546	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.14;-2.28;-2.14	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87605	0.6219	L	0.36672	1.1	0.50813	D	0.99989	D	0.59357	0.985	P	0.53518	0.728	D	0.84357	0.0536	10	0.21014	T	0.42	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	2973	Q9NZJ4	SACS_HUMAN	N	2973;2223;2973	ENSP00000371729:D2973N;ENSP00000385844:D2223N;ENSP00000371735:D2973N	ENSP00000371729:D2973N	D	-	1	0	SACS	22807098	1.000000	0.71417	0.986000	0.45419	0.893000	0.52053	7.487000	0.81328	2.653000	0.90120	0.555000	0.69702	GAT	-	SACS	-	NULL		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	0	0		38	38		0.00		C	NM_014363		23909098	-1	7		25		tier1	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	21.88		SNP	1.000	T	7	25
SCGB1A1	7356	genome.wustl.edu	37	11	62189806	62189806	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62189806G>A	ENST00000278282.2	+	2	230	c.169G>A	c.(169-171)Gag>Aag	p.E57K	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_Missense_Mutation_p.E22K	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	57					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|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 T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						AGACATGAGGGAGGCAGGGGC	0.542													ENSG00000149021																																					0													118.0	105.0	110.0					11																	62189806		2202	4299	6501	SO:0001583	missense	0			-		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"""Secretoglobins"""	12523	protein-coding gene	gene with protein product	"""Uteroglobin (Clara-cell specific 10-kD protein)"""	192020	"""uteroglobin"""	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.169G>A	11.37:g.62189806G>A	ENSP00000278282:p.Glu57Lys		B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin	p.E57K	ENST00000278282.2	37	c.169	CCDS8020.1	11	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294122	0.40594	.	.	ENSG00000149021	ENST00000534397;ENST00000278282	T;T	0.26810	1.71;1.71	4.74	0.252	0.15545	.	1.843420	0.03033	N	0.152346	T	0.16557	0.0398	.	.	.	0.09310	N	1	B	0.30727	0.292	B	0.28916	0.096	T	0.14364	-1.0475	9	0.32370	T	0.25	-19.0618	3.4495	0.07493	0.3318:0.0:0.4939:0.1743	.	57	P11684	UTER_HUMAN	K	22;57	ENSP00000432866:E22K;ENSP00000278282:E57K	ENSP00000278282:E57K	E	+	1	0	SCGB1A1	61946382	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.674000	0.05233	-0.147000	0.11254	-0.345000	0.07892	GAG	-	SCGB1A1	-	pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin		0.542	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1A1	HGNC	protein_coding	OTTHUMT00000394925.1	0	0		55	55		0.00		G	NM_003357		62189806	+1	31		44		tier1	no_errors	ENST00000278282	ensembl	human	known	74_37	missense	41.33		SNP	0.000	A	31	44
ARHGEF3	50650	genome.wustl.edu	37	3	56807787	56807787	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:56807787T>G	ENST00000296315.3	-	2	322	c.154A>C	c.(154-156)Atc>Ctc	p.I52L	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.I58L|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.I23L|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.I52L|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.I58L|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.I84L	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	52					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ACGGGCGGGATGAGGTTTGCT	0.478													ENSG00000163947																																					0													115.0	111.0	113.0					3																	56807787		2203	4300	6503	SO:0001583	missense	0			-	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.154A>C	3.37:g.56807787T>G	ENSP00000296315:p.Ile52Leu		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I84L	ENST00000296315.3	37	c.250	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656383	0.67586	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779;ENST00000468466	T;T;T;T;T;T	0.25579	2.07;1.79;1.94;1.82;1.94;2.13	5.28	5.28	0.74379	.	0.120167	0.56097	D	0.000033	T	0.28101	0.0693	L	0.52364	1.645	0.58432	D	0.999996	B;B;B;B;B;B	0.27013	0.054;0.011;0.004;0.166;0.054;0.09	B;B;B;B;B;B	0.29862	0.034;0.02;0.012;0.108;0.028;0.061	T	0.04029	-1.0983	10	0.42905	T	0.14	-9.0284	15.5366	0.76007	0.0:0.0:0.0:1.0	.	58;23;52;84;52;58	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	L	52;84;58;58;23;52;53;70;84	ENSP00000296315:I52L;ENSP00000341071:I84L;ENSP00000410922:I58L;ENSP00000420420:I58L;ENSP00000418826:I23L;ENSP00000417986:I52L	ENSP00000296315:I52L	I	-	1	0	ARHGEF3	56782827	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	5.743000	0.68655	2.145000	0.66743	0.528000	0.53228	ATC	-	ARHGEF3	-	NULL		0.478	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	0	0		111	111		0.00		T	NM_019555		56807787	-1	53		97		tier1	no_errors	ENST00000338458	ensembl	human	known	74_37	missense	35.33		SNP	1.000	G	53	97
NAA60	79903	genome.wustl.edu	37	16	3526270	3526270	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3526270C>T	ENST00000407558.4	+	3	346	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608722.1_Silent_p.L15L|NAA60_ENST00000608993.1_Intron|NAA60_ENST00000575076.1_Silent_p.L15L|NAA60_ENST00000572584.1_Silent_p.L15L|NAA60_ENST00000360862.5_Intron|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000421765.3_Silent_p.L15L|NAA60_ENST00000572942.1_Silent_p.L15L|NAA60_ENST00000424546.2_Intron|NAA60_ENST00000573580.1_Intron|NAA60_ENST00000577013.1_Silent_p.L15L|NAA60_ENST00000570819.1_Silent_p.L15L|NAA60_ENST00000576916.1_Silent_p.L15L|NAA60_ENST00000610180.1_Silent_p.L15L|NAA60_ENST00000414063.2_Silent_p.L15L			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	15	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CGAGGTCAGCCTGCGCCTCCT	0.617													ENSG00000122390																																					0													57.0	61.0	60.0					16																	3526270		2196	4294	6490	SO:0001819	synonymous_variant	0			-		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.43C>T	16.37:g.3526270C>T			B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Silent	SNP	pfam_GT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GT_dom	p.L15	ENST00000407558.4	37	c.43	CCDS45396.1	16																																																																																			-	A60	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GT_dom		0.617	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	A60	HGNC	protein_coding	OTTHUMT00000317235.2	0	0		29	29		0.00		C	NM_024845		3526270	+1	11		31		tier1	no_errors	ENST00000407558	ensembl	human	known	74_37	silent	26.19		SNP	1.000	T	11	31
MAP2	4133	genome.wustl.edu	37	2	210574734	210574734	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:210574734C>T	ENST00000360351.4	+	12	5335	c.4829C>T	c.(4828-4830)tCt>tTt	p.S1610F	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.S311F|MAP2_ENST00000361559.4_Missense_Mutation_p.S254F|MAP2_ENST00000392194.1_Missense_Mutation_p.S254F|MAP2_ENST00000447185.1_Missense_Mutation_p.S1606F	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1610					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCAAGTTATTCTTCACGCACA	0.577													ENSG00000078018																									Pancreas(27;423 979 28787 29963)												0													133.0	120.0	124.0					2																	210574734		2203	4300	6503	SO:0001583	missense	0			-		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4829C>T	2.37:g.210574734C>T	ENSP00000353508:p.Ser1610Phe		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.S1610F	ENST00000360351.4	37	c.4829	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409288	0.62399	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.26660	1.72;3.02;2.08;2.08;3.02	5.44	5.44	0.79542	.	0.104091	0.43416	D	0.000563	T	0.42268	0.1195	L	0.29908	0.895	0.80722	D	1	D;P;P;D;D	0.76494	0.999;0.937;0.93;0.999;0.998	D;P;P;D;D	0.76071	0.987;0.735;0.641;0.981;0.969	T	0.28586	-1.0039	10	0.62326	D	0.03	-14.9791	19.6252	0.95676	0.0:1.0:0.0:0.0	.	1606;254;255;1610;311	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	F	311;1610;254;254;1606	ENSP00000199940:S311F;ENSP00000353508:S1610F;ENSP00000355290:S254F;ENSP00000376032:S254F;ENSP00000392164:S1606F	ENSP00000199940:S311F	S	+	2	0	MAP2	210282979	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	7.772000	0.85439	2.697000	0.92050	0.655000	0.94253	TCT	-	MAP2	-	NULL		0.577	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	0	0		74	74		0.00		C	NM_001039538		210574734	+1	20		60		tier1	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	25.00		SNP	1.000	T	20	60
RYR2	6262	genome.wustl.edu	37	1	237829883	237829883	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237829883C>T	ENST00000366574.2	+	57	8825	c.8508C>T	c.(8506-8508)gaC>gaT	p.D2836D	RYR2_ENST00000542537.1_Silent_p.D2820D|RYR2_ENST00000360064.6_Silent_p.D2834D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2836	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)			TATCTAGAGACCTGCATGTAA	0.378													ENSG00000198626																																					0													52.0	47.0	49.0					1																	237829883		1855	4088	5943	SO:0001819	synonymous_variant	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.8508C>T	1.37:g.237829883C>T			Q15411|Q546N8|Q5T3P2	Silent	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.D2834	ENST00000366574.2	37	c.8502	CCDS55691.1	1																																																																																			-	RYR2	-	pfam_Ryanodine_rcpt		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0		70	70		0.00		C	NM_001035		237829883	+1	29		59		tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	32.95		SNP	0.987	T	29	59
ITIH1	3697	genome.wustl.edu	37	3	52814391	52814391	+	Missense_Mutation	SNP	G	G	A	rs267599896		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52814391G>A	ENST00000273283.2	+	6	704	c.680G>A	c.(679-681)gGa>gAa	p.G227E	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.G227E|ITIH1_ENST00000540715.1_Missense_Mutation_p.G85E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	227					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCCTTCTCAGGAAAAAAGGTA	0.562													ENSG00000055957																																					0													40.0	39.0	39.0					3																	52814391		2203	4300	6503	SO:0001583	missense	0			-		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.680G>A	3.37:g.52814391G>A	ENSP00000273283:p.Gly227Glu		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G227E	ENST00000273283.2	37	c.680	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568959	0.65765	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02050	4.48;4.99;4.88	6.07	5.2	0.72013	.	0.449057	0.26362	N	0.024808	T	0.05777	0.0151	L	0.33710	1.025	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.55945	-0.8060	10	0.09338	T	0.73	-30.6864	13.4741	0.61297	0.0728:0.0:0.9272:0.0	.	227	P19827	ITIH1_HUMAN	E	227;227;85	ENSP00000442584:G227E;ENSP00000273283:G227E;ENSP00000443973:G85E	ENSP00000273283:G227E	G	+	2	0	ITIH1	52789431	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.035000	0.57297	1.581000	0.49865	0.655000	0.94253	GGA	-	ITIH1	-	NULL		0.562	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	0	0		66	66		0.00		G	NM_002215		52814391	+1	16		72		tier1	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	18.18		SNP	1.000	A	16	72
MUSK	4593	genome.wustl.edu	37	9	113530214	113530214	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113530214G>A	ENST00000374448.4	+	9	1169	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	MUSK_ENST00000416899.2_Silent_p.E345E|MUSK_ENST00000189978.5_Silent_p.E345E	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	345	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CGGACCCTGAGGAGGCCCAAG	0.532													ENSG00000030304																																					0													77.0	80.0	79.0					9																	113530214		1933	4143	6076	SO:0001819	synonymous_variant	0			-	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1035G>A	9.37:g.113530214G>A			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E345	ENST00000374448.4	37	c.1035	CCDS48005.1	9																																																																																			-	MUSK	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom		0.532	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		0	0		83	83		0.00		G			113530214	+1	42		63		tier1	no_errors	ENST00000374448	ensembl	human	known	74_37	silent	40.00		SNP	1.000	A	42	63
MECOM	2122	genome.wustl.edu	37	3	168849229	168849229	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:168849229G>A	ENST00000464456.1	-	3	1237	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	MECOM_ENST00000264674.3_Missense_Mutation_p.P77S|MECOM_ENST00000472280.1_Missense_Mutation_p.P13S|MECOM_ENST00000392736.3_Missense_Mutation_p.P13S|MECOM_ENST00000468789.1_Missense_Mutation_p.P13S|MECOM_ENST00000494292.1_Missense_Mutation_p.P201S|MECOM_ENST00000460814.1_Missense_Mutation_p.P13S|MECOM_ENST00000433243.2_Missense_Mutation_p.P13S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGATATCCGGCGCCATAGTT	0.468													ENSG00000085276																																					0													187.0	115.0	139.0					3																	168849229		2203	4300	6503	SO:0001583	missense	0			-	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.37C>T	3.37:g.168849229G>A	ENSP00000419770:p.Pro13Ser		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.P201S	ENST00000464456.1	37	c.601	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425928	0.43020	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597;ENST00000475754;ENST00000481315;ENST00000466623	T;T;T;T;T;T;T;T;T;T;T;T;T	0.39406	3.1;3.11;3.12;3.28;3.1;3.11;3.12;3.28;5.02;5.92;5.92;5.92;1.08	5.55	5.55	0.83447	.	0.217736	0.32328	N	0.006259	T	0.54983	0.1892	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.983;0.996;0.983;0.996	T	0.58532	-0.7620	10	0.72032	D	0.01	-7.9151	19.502	0.95098	0.0:0.0:1.0:0.0	.	201;13;201;77;13	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	S	77;13;13;13;201;13;13;13;13;13;13;13;13;13;13	ENSP00000264674:P77S;ENSP00000376493:P13S;ENSP00000419770:P13S;ENSP00000420048:P13S;ENSP00000417899:P201S;ENSP00000419995:P13S;ENSP00000420466:P13S;ENSP00000394302:P13S;ENSP00000417299:P13S;ENSP00000417922:P13S;ENSP00000419757:P13S;ENSP00000420072:P13S;ENSP00000418828:P13S	ENSP00000264674:P77S	P	-	1	0	MECOM	170331923	1.000000	0.71417	0.999000	0.59377	0.086000	0.17979	9.476000	0.97823	2.605000	0.88082	0.555000	0.69702	CCG	-	MECOM	-	NULL		0.468	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	0	0		78	78		0.00		G	NM_005241, NM_004991		168849229	-1	45		67		tier1	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	39.82		SNP	1.000	A	45	67
AMBN	258	genome.wustl.edu	37	4	71472162	71472162	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71472162C>T	ENST00000322937.6	+	13	1162	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	AMBN_ENST00000449493.2_Silent_p.L338L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	353					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACGCAGGGCTCCTTGCTCTCC	0.592													ENSG00000178522																																					0													52.0	51.0	51.0					4																	71472162		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1059C>T	4.37:g.71472162C>T			Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	pfam_Amelin,smart_Amelin	p.L353	ENST00000322937.6	37	c.1059	CCDS3543.1	4																																																																																			-	AMBN	-	pfam_Amelin,smart_Amelin		0.592	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1	0	0		30	30		0.00		C	NM_016519		71472162	+1	13		22		tier1	no_errors	ENST00000322937	ensembl	human	known	74_37	silent	37.14		SNP	0.959	T	13	22
KCTD10	83892	genome.wustl.edu	37	12	109894018	109894018	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:109894018C>T	ENST00000228495.6	-	6	909	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	KCTD10_ENST00000424763.2_Missense_Mutation_p.E29K|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.E29K|KCTD10_ENST00000540411.1_Missense_Mutation_p.E184K	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	210					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CAGCAGATTTCATCCCCAATA	0.438													ENSG00000110906																																					0													148.0	134.0	139.0					12																	109894018		2203	4300	6503	SO:0001583	missense	0			-	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.628G>A	12.37:g.109894018C>T	ENSP00000228495:p.Glu210Lys		Q53HN2|Q59FV1|Q6PL47|Q96SU0	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E210K	ENST00000228495.6	37	c.628	CCDS9128.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.626860|5.626860	0.96671|0.96671	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000228495;ENST00000540089;ENST00000545759;ENST00000424763;ENST00000540411;ENST00000542954;ENST00000535546;ENST00000540402;ENST00000540355|ENST00000538161	T;T|.	0.55930|.	0.57;0.49|.	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79317|0.79317	0.4425|0.4425	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.59357|.	0.985;0.985;0.974|.	P;P;P|.	0.57846|.	0.828;0.828;0.742|.	T|T	0.81790|0.81790	-0.0771|-0.0771	10|5	0.87932|.	D|.	0|.	-20.3239|-20.3239	17.0631|17.0631	0.86552|0.86552	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	184;187;210|.	F5GWA4;Q9H3F6-2;Q9H3F6|.	.;.;BACD3_HUMAN|.	K|I	210;29;52;29;184;29;29;29;29|175	ENSP00000228495:E210K;ENSP00000441672:E184K|.	ENSP00000228495:E210K|.	E|M	-|-	1|3	0|0	KCTD10|KCTD10	108378401|108378401	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.981000|0.981000	0.71138|0.71138	7.651000|7.651000	0.83577|0.83577	2.586000|2.586000	0.87340|0.87340	0.561000|0.561000	0.74099|0.74099	GAA|ATG	-	KCTD10	-	NULL		0.438	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	HGNC	protein_coding	OTTHUMT00000403099.1	0	0		93	93		0.00		C	NM_031954		109894018	-1	24		87		tier1	no_errors	ENST00000228495	ensembl	human	known	74_37	missense	21.62		SNP	1.000	T	24	87
CHRNA9	55584	genome.wustl.edu	37	4	40337493	40337493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:40337493G>A	ENST00000310169.2	+	1	148	c.9G>A	c.(7-9)tgG>tgA	p.W3*		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	3					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGATGAACTGGTCCCATTCCT	0.498													ENSG00000174343																									Esophageal Squamous(115;1297 1602 22235 25158 43327)												0													153.0	133.0	140.0					4																	40337493		2203	4300	6503	SO:0001587	stop_gained	0			-	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.9G>A	4.37:g.40337493G>A	ENSP00000312663:p.Trp3*		Q14CY7|Q4W5A2|Q9NYV2	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.W3*	ENST00000310169.2	37	c.9	CCDS3459.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.660830	0.96734	.	.	ENSG00000174343	ENST00000310169	.	.	.	5.36	5.36	0.76844	.	0.695762	0.14083	N	0.342530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	14.4541	0.67404	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	ENSP00000312663:W3X	W	+	3	0	CHRNA9	40032250	1.000000	0.71417	0.995000	0.50966	0.469000	0.32828	4.172000	0.58243	2.797000	0.96272	0.561000	0.74099	TGG	-	CHR9	-	NULL		0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHR9	HGNC	protein_coding	OTTHUMT00000216822.1	0	0		37	37		0.00		G			40337493	+1	23		33		tier1	no_errors	ENST00000310169	ensembl	human	known	74_37	nonsense	41.07		SNP	0.999	A	23	33
C4orf22	255119	genome.wustl.edu	37	4	81791227	81791227	+	Silent	SNP	G	G	A	rs374347843		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:81791227G>A	ENST00000358105.3	+	4	463	c.414G>A	c.(412-414)acG>acA	p.T138T	C4orf22_ENST00000508675.1_Silent_p.T155T	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	138			T -> M (in dbSNP:rs11947742).							NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GGCTAAAGACGGAAGATTTTG	0.403													ENSG00000197826	G|||	1	0.000199681	0.0	0.0014	5008	,	,		16661	0.0		0.0	False		,,,				2504	0.0																0								G	,	0,4406		0,0,2203	111.0	117.0	115.0		465,414	-10.1	0.0	4		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C4orf22	NM_001206997.1,NM_152770.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	155/251,138/234	81791227	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.414G>A	4.37:g.81791227G>A			E7EQ13|Q6ZQY4|Q8N4G9	Silent	SNP	NULL	p.T155	ENST00000358105.3	37	c.465	CCDS3587.1	4																																																																																			-	C4orf22	-	NULL		0.403	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	HGNC	protein_coding	OTTHUMT00000252629.2	0	0		58	58		0.00		G	NM_152770		81791227	+1	12		61		tier1	no_errors	ENST00000508675	ensembl	human	known	74_37	silent	16.44		SNP	0.000	A	12	61
PFKL	5211	genome.wustl.edu	37	21	45742861	45742861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:45742861C>T	ENST00000349048.4	+	15	1481	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	PFKL_ENST00000403390.1_Nonsense_Mutation_p.Q523*	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	476	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCCCAAGGGCCAGCTGGAGTC	0.582													ENSG00000141959																																					0													140.0	106.0	118.0					21																	45742861		2202	4300	6502	SO:0001587	stop_gained	0			-		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1426C>T	21.37:g.45742861C>T	ENSP00000269848:p.Gln476*		Q96A64|Q96IH4|Q9BR91	Nonsense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.Q523*	ENST00000349048.4	37	c.1567	CCDS33582.1	21	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518499	0.85495	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	.	.	.	3.61	2.54	0.30619	.	0.555448	0.18921	U	0.127490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6304	4.1249	0.10123	0.0:0.2679:0.0:0.7321	.	.	.	.	X	476;269;523	.	ENSP00000269848:Q476X	Q	+	1	0	PFKL	44567289	0.004000	0.15560	0.762000	0.31397	0.090000	0.18270	1.094000	0.30951	0.477000	0.27464	0.491000	0.48974	CAG	-	PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.582	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	0	0		40	40		0.00		C			45742861	+1	19		65		tier1	no_errors	ENST00000403390	ensembl	human	known	74_37	nonsense	22.62		SNP	0.249	T	19	65
TTPA	7274	genome.wustl.edu	37	8	63985641	63985641	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:63985641T>A	ENST00000260116.4	-	2	242	c.211A>T	c.(211-213)Aaa>Taa	p.K71*	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	71					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TAATAGTTTTTTAGTAACTGA	0.338													ENSG00000137561																																					0													57.0	58.0	57.0					8																	63985641		2203	4300	6503	SO:0001587	stop_gained	0			-	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.211A>T	8.37:g.63985641T>A	ENSP00000260116:p.Lys71*		Q71V64	Nonsense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.K71*	ENST00000260116.4	37	c.211	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	T	24.7	4.561998	0.86335	.	.	ENSG00000137561	ENST00000260116	.	.	.	5.82	0.617	0.17619	.	0.344942	0.35585	N	0.003116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.2631	0.31797	0.0:0.118:0.2092:0.6728	.	.	.	.	X	71	.	ENSP00000260116:K71X	K	-	1	0	TTPA	64148195	0.999000	0.42202	0.138000	0.22173	0.976000	0.68499	1.502000	0.35704	-0.397000	0.07691	-1.255000	0.01485	AAA	-	TTPA	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran		0.338	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	0	0		38	38		0.00		T	NM_000370		63985641	-1	11		21		tier1	no_errors	ENST00000260116	ensembl	human	known	74_37	nonsense	34.38		SNP	0.842	A	11	21
LINC01317	104355287	genome.wustl.edu	37	2	33951639	33951640	+	lincRNA	INS	-	-	GCTAGG	rs3217586|rs70940218	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:33951639_33951640insGCTAGG	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							ACTAAGGCACAGCTAGGGCGGG	0.619													ENSG00000239649		1982	0.395767	0.3185	0.4856	5008	,	,		14411	0.3948		0.4245	False		,,,				2504	0.408																0																																												0																																2.37:g.33951640_33951645dupGCTAGG				R	INS	-	NULL	ENST00000366209.2	37	NULL		2																																																																																				MYADML	-	-		0.619	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1									-			33951640	-1					tier1	no_errors	ENST00000474610	ensembl	human	known	74_37	rna			INS	0.441:0.327	GCTAGG		
ZNF618	114991	genome.wustl.edu	37	9	116795004	116795004	+	Silent	SNP	C	C	T	rs371788408		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:116795004C>T	ENST00000374126.5	+	12	1263	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Silent_p.S295S			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	388					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(4)|lung(10)|urinary_tract(1)	16						CGCAGAACTCCAGCGGTGAGT	0.607													ENSG00000157657																																					0													95.0	105.0	102.0					9																	116795004		2062	4182	6244	SO:0001819	synonymous_variant	0			-	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1164C>T	9.37:g.116795004C>T			B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S388	ENST00000374126.5	37	c.1164		9																																																																																			-	ZNF618	-	NULL		0.607	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	0	0		41	41		0.00		C	XM_054983		116795004	+1	17		36		tier1	no_errors	ENST00000374126	ensembl	human	known	74_37	silent	32.08		SNP	1.000	T	17	36
APOF	319	genome.wustl.edu	37	12	56755634	56755634	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:56755634G>A	ENST00000398189.3	-	2	433	c.356C>T	c.(355-357)gCt>gTt	p.A119V	STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.A101V|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	119					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GACCTGTGTAGCATTCACACC	0.557													ENSG00000175336																																					0													66.0	66.0	66.0					12																	56755634		2081	4236	6317	SO:0001583	missense	0			-	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.356C>T	12.37:g.56755634G>A	ENSP00000381250:p.Ala119Val		Q8TC13	Missense_Mutation	SNP	NULL	p.A119V	ENST00000398189.3	37	c.356	CCDS44923.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375512	0.82682	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.52983	0.64;0.64	4.87	4.87	0.63330	.	0.418224	0.17735	N	0.163779	T	0.64571	0.2610	L	0.57536	1.79	0.27476	N	0.952732	D	0.89917	1.0	D	0.91635	0.999	T	0.57923	-0.7727	10	0.72032	D	0.01	-5.695	13.7331	0.62802	0.0:0.0:1.0:0.0	.	119	Q13790	APOF_HUMAN	V	119;101	ENSP00000381250:A119V;ENSP00000440997:A101V	ENSP00000381250:A119V	A	-	2	0	APOF	55041901	0.550000	0.26489	0.571000	0.28486	0.922000	0.55478	2.318000	0.43779	2.717000	0.92951	0.655000	0.94253	GCT	-	APOF	-	NULL		0.557	APOF-001	KNOWN	basic|CCDS	protein_coding	APOF	HGNC	protein_coding	OTTHUMT00000410076.1	0	0		35	35		0.00		G			56755634	-1	18		24		tier1	no_errors	ENST00000398189	ensembl	human	known	74_37	missense	42.86		SNP	0.589	A	18	24
ARHGDIA	396	genome.wustl.edu	37	17	79826449	79826449	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79826449G>A	ENST00000269321.7	-	0	1053				ARHGDIA_ENST00000580685.1_3'UTR|ARHGDIA_ENST00000582520.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.P172S|ARHGDIA_ENST00000541078.2_3'UTR|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000400721.4_3'UTR|RP11-498C9.3_ENST00000576021.1_RNA	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha						cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGGTGTGACGGGGAGATAGAA	0.672													ENSG00000141522																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.*303C>T	17.37:g.79826449G>A			A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Missense_Mutation	SNP	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	p.P172S	ENST00000269321.7	37	c.514	CCDS11788.1	17																																																																																			-	ARHGDIA	-	NULL		0.672	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIA	HGNC	protein_coding	OTTHUMT00000441679.2	0	0		17	17		0.00		G	NM_004309		79826449	-1	18		14		tier1	no_errors	ENST00000584461	ensembl	human	putative	74_37	missense	56.25		SNP	0.000	A	18	14
CMYA5	202333	genome.wustl.edu	37	5	79030247	79030247	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:79030247A>T	ENST00000446378.2	+	2	5690	c.5659A>T	c.(5659-5661)Att>Ttt	p.I1887F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1887					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAATTCTTTATTTCTCCAAA	0.393													ENSG00000164309																																					0													54.0	53.0	54.0					5																	79030247		1845	4092	5937	SO:0001583	missense	0			-	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5659A>T	5.37:g.79030247A>T	ENSP00000394770:p.Ile1887Phe		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.I1887F	ENST00000446378.2	37	c.5659	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655603	0.67586	.	.	ENSG00000164309	ENST00000446378	T	0.06142	3.34	5.84	0.643	0.17770	.	0.267654	0.27031	N	0.021266	T	0.08403	0.0209	L	0.31926	0.97	0.09310	N	1	D	0.60575	0.988	P	0.54664	0.758	T	0.22556	-1.0213	10	0.37606	T	0.19	.	7.612	0.28135	0.3567:0.5533:0.09:0.0	.	1887	Q8N3K9	CMYA5_HUMAN	F	1887	ENSP00000394770:I1887F	ENSP00000394770:I1887F	I	+	1	0	CMYA5	79066003	0.000000	0.05858	0.000000	0.03702	0.697000	0.40408	-0.281000	0.08456	0.096000	0.17463	0.528000	0.53228	ATT	-	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	0	0		25	25		0.00		A	NM_153610		79030247	+1	17		23		tier1	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	42.50		SNP	0.000	T	17	23
MAST3	23031	genome.wustl.edu	37	19	18257756	18257756	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18257756C>T	ENST00000262811.6	+	25	3141	c.3141C>T	c.(3139-3141)gcC>gcT	p.A1047A	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1047							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TGGGCCCCGCCCGGAAGAATG	0.672													ENSG00000099308																																					0													21.0	23.0	22.0					19																	18257756		1930	4073	6003	SO:0001819	synonymous_variant	0			-	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3141C>T	19.37:g.18257756C>T			Q7LDZ8|Q9UPI0	Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.A1047	ENST00000262811.6	37	c.3141	CCDS46014.1	19																																																																																			-	MAST3	-	NULL		0.672	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	0	0		29	29		0.00		C	XM_038150		18257756	+1	14		22		tier1	no_errors	ENST00000262811	ensembl	human	known	74_37	silent	38.89		SNP	0.516	T	14	22
XIRP2	129446	genome.wustl.edu	37	2	168105914	168105914	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168105914C>T	ENST00000409195.1	+	9	8101	c.8012C>T	c.(8011-8013)tCa>tTa	p.S2671L	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2671L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2449L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2496					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAATCCAAATCAGCTTGCGAA	0.403													ENSG00000163092																																					0													57.0	56.0	56.0					2																	168105914		1875	4092	5967	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	ENST00000409195.1:c.8012C>T	2.37:g.168105914C>T	ENSP00000386840:p.Ser2671Leu		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.S2671L	ENST00000409195.1	37	c.8012	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462462	0.26248	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02472	4.28;4.28;4.28	6.07	4.04	0.47022	.	1.205390	0.05725	N	0.598439	T	0.02610	0.0079	N	0.20401	0.57	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.004	T	0.43278	-0.9401	10	0.23891	T	0.37	-0.3836	6.453	0.21914	0.0:0.7592:0.0:0.2408	.	2496;2496;2449	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	2671;2671;2449;85	ENSP00000386840:S2671L;ENSP00000295237:S2671L;ENSP00000387255:S2449L	ENSP00000295237:S2671L	S	+	2	0	XIRP2	167814160	0.022000	0.18835	0.008000	0.14137	0.919000	0.55068	0.337000	0.19841	1.547000	0.49401	0.655000	0.94253	TCA	-	XIRP2	-	NULL		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	0	0		53	53		0.00		C	NM_152381		168105914	+1	29		39		tier1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	42.03		SNP	0.001	T	29	39
FABP12	646486	genome.wustl.edu	37	8	82439336	82439336	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:82439336C>T	ENST00000360464.4	-	3	329	c.267G>A	c.(265-267)aaG>aaA	p.K89K	RP11-257P3.3_ENST00000518637.1_RNA|RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	89							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						TCAGGGACTCCTTATCTAAGG	0.388													ENSG00000197416																																					0													85.0	76.0	78.0					8																	82439336		1869	4111	5980	SO:0001819	synonymous_variant	0			-		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.267G>A	8.37:g.82439336C>T			B7SUN0	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.K89	ENST00000360464.4	37	c.267	CCDS47882.1	8																																																																																			-	FABP12	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.388	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP12	HGNC	protein_coding	OTTHUMT00000379720.1	0	0		49	49		0.00		C	NM_001105281		82439336	-1	16		48		tier1	no_errors	ENST00000360464	ensembl	human	known	74_37	silent	25.00		SNP	0.002	T	16	48
C6orf132	647024	genome.wustl.edu	37	6	42074695	42074695	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:42074695C>T	ENST00000341865.4	-	4	954	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K		NM_001164446.1	NP_001157918.1	Q5T0Z8	CF132_HUMAN	chromosome 6 open reading frame 132	319										breast(1)	1						TCTTGTGCTTCCTGAACTGGG	0.637													ENSG00000188112																																					0													14.0	19.0	17.0					6																	42074695		692	1591	2283	SO:0001583	missense	0			-		CCDS47428.1	6p21.1	2012-02-06			ENSG00000188112	ENSG00000188112			21288	protein-coding gene	gene with protein product							Standard	NM_001164446		Approved	bA7K24.2	uc003orw.2	Q5T0Z8	OTTHUMG00000014695	ENST00000341865.4:c.955G>A	6.37:g.42074695C>T	ENSP00000341368:p.Glu319Lys		A6NI05	Missense_Mutation	SNP	NULL	p.E319K	ENST00000341865.4	37	c.955	CCDS47428.1	6	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305544	0.60305	.	.	ENSG00000188112	ENST00000341865	T	0.55413	0.52	3.58	3.58	0.41010	.	.	.	.	.	T	0.26412	0.0645	N	0.24115	0.695	0.80722	D	1	.	.	.	.	.	.	T	0.06391	-1.0829	7	0.19147	T	0.46	.	10.7603	0.46261	0.0:1.0:0.0:0.0	.	.	.	.	K	319	ENSP00000341368:E319K	ENSP00000341368:E319K	E	-	1	0	C6orf132	42182673	0.985000	0.35326	0.998000	0.56505	0.747000	0.42532	2.943000	0.49026	1.556000	0.49512	0.644000	0.83932	GAA	-	C6orf132	-	NULL		0.637	C6orf132-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C6orf132	HGNC	protein_coding	OTTHUMT00000040548.2	0	0		42	42		0.00		C	NM_001164446		42074695	-1	23		39		tier1	no_errors	ENST00000341865	ensembl	human	putative	74_37	missense	37.10		SNP	0.817	T	23	39
ZBTB8A	653121	genome.wustl.edu	37	1	33066007	33066007	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:33066007C>T	ENST00000373510.4	+	5	1542	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAAATTAAGCCCAACATTAGG	0.403													ENSG00000160062																																					0													79.0	75.0	77.0					1																	33066007		2203	4300	6503	SO:0001583	missense	0			-	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1313C>T	1.37:g.33066007C>T	ENSP00000362609:p.Pro438Leu		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P438L	ENST00000373510.4	37	c.1313	CCDS30664.1	1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792830	0.70452	.	.	ENSG00000160062	ENST00000373510	T	0.17213	2.29	5.5	5.5	0.81552	.	0.099316	0.41194	U	0.000936	T	0.12518	0.0304	N	0.24115	0.695	0.80722	D	1	B	0.27351	0.176	B	0.22386	0.039	T	0.04017	-1.0984	10	0.87932	D	0	-12.9036	12.1398	0.53993	0.0:0.9217:0.0:0.0783	.	438	Q96BR9	ZBT8A_HUMAN	L	438	ENSP00000362609:P438L	ENSP00000362609:P438L	P	+	2	0	ZBTB8A	32838594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.623000	0.54224	2.757000	0.94681	0.655000	0.94253	CCC	-	ZBTB8A	-	NULL		0.403	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8A	HGNC	protein_coding	OTTHUMT00000021665.2	0	0		62	62		0.00		C	NM_144621		33066007	+1	25		37		tier1	no_errors	ENST00000373510	ensembl	human	known	74_37	missense	40.32		SNP	1.000	T	25	37
GSTM3	2947	genome.wustl.edu	37	1	110280032	110280032	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110280032G>A	ENST00000540225.1	-	8	890				RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Intron|GSTM3_ENST00000256594.3_Intron|GSTM3_ENST00000488824.1_Intron			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)						cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	CAGGTCCCAGGGGAGCCTGTG	0.507													ENSG00000134202																																					0													22.0	23.0	23.0					1																	110280032		2203	4300	6503	SO:0001627	intron_variant	0			-	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.579+46C>T	1.37:g.110280032G>A			O60550|Q96HA3	R	SNP	-	NULL	ENST00000540225.1	37	NULL	CCDS812.1	1																																																																																			-	GSTM3	-	-		0.507	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM3	HGNC	protein_coding	OTTHUMT00000032182.1	0	0		33	33		0.00		G	NM_000849		110280032	-1	7		24		tier1	no_errors	ENST00000476321	ensembl	human	known	74_37	rna	22.58		SNP	0.000	A	7	24
WRBP1	256085	genome.wustl.edu	37	4	113614777	113614777	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:113614777C>T	ENST00000505632.1	-	0	165																											GCGGATAACTCTTGCTTCATA	0.463													ENSG00000250046																																					0																																												0			-																													4.37:g.113614777C>T				R	SNP	-	NULL	ENST00000505632.1	37	NULL		4																																																																																			-	RP11-148B6.2	-	-		0.463	RP11-148B6.2-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000250046	Clone_based_vega_gene	lincRNA	OTTHUMT00000365333.1	0	0		18	18		0.00		C			113614777	-1	10		11		tier1	no_errors	ENST00000505632	ensembl	human	known	74_37	rna	47.62		SNP	1.000	T	10	11
MYH2	4620	genome.wustl.edu	37	17	10432355	10432355	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:10432355C>T	ENST00000245503.5	-	27	3780	c.3396G>A	c.(3394-3396)cgG>cgA	p.R1132R	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.R1132R|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCCGGGAGGCCCGCTCTGCCT	0.607													ENSG00000125414																																					0													35.0	41.0	39.0					17																	10432355		2200	4292	6492	SO:0001819	synonymous_variant	0			-		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3396G>A	17.37:g.10432355C>T			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1132	ENST00000245503.5	37	c.3396	CCDS11156.1	17																																																																																			-	MYH2	-	pfam_Myosin_tail		0.607	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	0	0		64	64		0.00		C	NM_017534		10432355	-1	10		58		tier1	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	14.71		SNP	0.926	T	10	58
TRPM4	54795	genome.wustl.edu	37	19	49674907	49674907	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49674907C>T	ENST00000252826.5	+	8	1057	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Silent_p.L28L|TRPM4_ENST00000427978.2_Silent_p.L311L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	311					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGCGGACTGCCTGGCGGAGAC	0.597													ENSG00000130529																																					0													33.0	37.0	36.0					19																	49674907		2202	4299	6501	SO:0001819	synonymous_variant	0			-	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.931C>T	19.37:g.49674907C>T			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.L311	ENST00000252826.5	37	c.931	CCDS33073.1	19																																																																																			-	TRPM4	-	NULL		0.597	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	0	0		23	23		0.00		C	NM_017636		49674907	+1	18		27		tier1	no_errors	ENST00000252826	ensembl	human	known	74_37	silent	40.00		SNP	1.000	T	18	27
FERMT1	55612	genome.wustl.edu	37	20	6096461	6096461	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:6096461G>A	ENST00000217289.4	-	3	1170	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	128	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TACTTACTCAGGATTTTGCAG	0.453													ENSG00000101311																																					0													62.0	60.0	61.0					20																	6096461		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.382C>T	20.37:g.6096461G>A			D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L128	ENST00000217289.4	37	c.382	CCDS13098.1	20																																																																																			-	FERMT1	-	pfam_FERM_N,smart_Band_41_domain		0.453	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	0	0		25	25		0.00		G	NM_017671		6096461	-1	10		40		tier1	no_errors	ENST00000217289	ensembl	human	known	74_37	silent	20.00		SNP	0.896	A	10	40
API5	8539	genome.wustl.edu	37	11	43342406	43342406	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:43342406T>C	ENST00000531273.1	+	3	406	c.267T>C	c.(265-267)ttT>ttC	p.F89F	API5_ENST00000534600.1_Silent_p.F89F|API5_ENST00000420461.2_Silent_p.F35F|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Silent_p.F78F|API5_ENST00000378852.3_Silent_p.F89F			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	89	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TGCCTCAATTTGCCACTGGAG	0.333													ENSG00000166181																									Pancreas(1;98 122 5625 20895 49453)												0													92.0	97.0	95.0					11																	43342406		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.267T>C	11.37:g.43342406T>C			B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	pfam_API5,superfamily_ARM-type_fold	p.F89	ENST00000531273.1	37	c.267	CCDS44572.1	11																																																																																			-	API5	-	pfam_API5,superfamily_ARM-type_fold		0.333	API5-002	KNOWN	basic|CCDS	protein_coding	API5	HGNC	protein_coding	OTTHUMT00000389545.1	0	0		119	119		0.00		T	NM_006595		43342406	+1	49		121		tier1	no_errors	ENST00000531273	ensembl	human	known	74_37	silent	28.82		SNP	1.000	C	49	121
COL4A3	1285	genome.wustl.edu	37	2	228118052	228118052	+	Splice_Site	SNP	G	G	A	rs188942711		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:228118052G>A	ENST00000396578.3	+	12	848	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	229	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGGAGAGCGGGTAATTTAA	0.343													ENSG00000169031	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16345	0.0		0.0	False		,,,				2504	0.0																0													129.0	128.0	128.0					2																	228118052		1797	4070	5867	SO:0001630	splice_region_variant	0			GMAF=0.0005		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.687+1G>A	2.37:g.228118052G>A			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R229Q	ENST00000396578.3	37	c.686	CCDS42829.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.83	1.756572	0.31137	.	.	ENSG00000169031	ENST00000396578	D	0.93604	-3.25	5.51	-6.34	0.01982	.	.	.	.	.	T	0.79167	0.4400	N	0.13371	0.34	0.09310	N	1	B;B;B;B	0.33940	0.433;0.433;0.433;0.307	B;B;B;B	0.26614	0.071;0.071;0.021;0.033	T	0.72114	-0.4388	9	0.22706	T	0.39	.	2.6501	0.04996	0.441:0.1967:0.2625:0.0998	.	229;229;229;229	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	Q	229	ENSP00000379823:R229Q	ENSP00000379823:R229Q	R	+	2	0	COL4A3	227826296	0.001000	0.12720	0.001000	0.08648	0.507000	0.33981	-0.471000	0.06631	-1.564000	0.01678	-0.175000	0.13238	CGG	rs188942711	COL4A3	-	NULL		0.343	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	0	0		72	72		0.00		G	NM_000091	Missense_Mutation	228118052	+1	25		51		tier1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	32.89		SNP	0.000	A	25	51
PCLO	27445	genome.wustl.edu	37	7	82585020	82585020	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82585020C>T	ENST00000333891.9	-	5	5586	c.5249G>A	c.(5248-5250)gGa>gAa	p.G1750E	PCLO_ENST00000423517.2_Missense_Mutation_p.G1750E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G1750E(2)|p.G1681E(1)		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						TTTGCTCTCTCCTTTTTTGTG	0.473													ENSG00000186472																																					3	Substitution - Missense(3)	lung(3)											151.0	143.0	145.0					7																	82585020		1992	4190	6182	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.5249G>A	7.37:g.82585020C>T	ENSP00000334319:p.Gly1750Glu			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.G1750E	ENST00000333891.9	37	c.5249	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146264	0.37923	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15952	2.38;2.39	5.65	5.65	0.86999	.	.	.	.	.	T	0.28764	0.0713	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.18681	-1.0329	9	0.87932	D	0	.	19.7408	0.96230	0.0:1.0:0.0:0.0	.	1750;1750	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1681;1750;1750	ENSP00000334319:G1750E;ENSP00000388393:G1750E	ENSP00000334319:G1750E	G	-	2	0	PCLO	82422956	0.950000	0.32346	1.000000	0.80357	0.985000	0.73830	3.115000	0.50391	2.671000	0.90904	0.650000	0.86243	GGA	-	PCLO	-	NULL		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		71	71		0.00		C	NM_014510		82585020	-1	15		82		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	15.46		SNP	1.000	T	15	82
SRMS	6725	genome.wustl.edu	37	20	62173583	62173583	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:62173583C>T	ENST00000217188.1	-	5	919	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTCCCCGCCCGAGCACACTG	0.647													ENSG00000125508																																					0													92.0	73.0	79.0					20																	62173583		2202	4300	6502	SO:0001819	synonymous_variant	0			-		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.879G>A	20.37:g.62173583C>T				Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S293	ENST00000217188.1	37	c.879	CCDS13525.1	20																																																																																			-	SRMS	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.647	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	HGNC	protein_coding	OTTHUMT00000080148.1	0	0		68	68		0.00		C	NM_080823		62173583	-1	26		117		tier1	no_errors	ENST00000217188	ensembl	human	known	74_37	silent	18.18		SNP	0.007	T	26	117
SLC9A7P1	121456	genome.wustl.edu	37	12	98849450	98849450	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:98849450C>T	ENST00000554295.1	-	0	1473					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GCCATTGCTCCCCTGAGGCCT	0.522													ENSG00000227825																																					0																																												0			-			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849450C>T				R	SNP	-	NULL	ENST00000554295.1	37	NULL		12																																																																																			-	SLC9A7P1	-	-		0.522	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	SLC9A7P1	HGNC	pseudogene	OTTHUMT00000409869.1	0	0		51	51		0.00		C			98849450	-1	20		63		tier1	no_errors	ENST00000554295	ensembl	human	putative	74_37	rna	24.10		SNP	1.000	T	20	63
SFMBT2	57713	genome.wustl.edu	37	10	7269837	7269837	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:7269837G>A	ENST00000361972.4	-	10	1273	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P395S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	395					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CAGAAGGGAGGGGCTTCCTGC	0.413													ENSG00000198879																																					0													60.0	65.0	63.0					10																	7269837		2203	4300	6503	SO:0001583	missense	0			-	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1183C>T	10.37:g.7269837G>A	ENSP00000355109:p.Pro395Ser		A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.P395S	ENST00000361972.4	37	c.1183	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363296	0.61513	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.21031	2.03;2.03	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.46247	-0.9205	10	0.51188	T	0.08	.	18.715	0.91672	0.0:0.0:1.0:0.0	.	395	Q5VUG0	SMBT2_HUMAN	S	395	ENSP00000355109:P395S;ENSP00000380353:P395S	ENSP00000355109:P395S	P	-	1	0	SFMBT2	7309843	1.000000	0.71417	0.957000	0.39632	0.343000	0.28985	7.514000	0.81750	2.588000	0.87417	0.563000	0.77884	CCT	-	SFMBT2	-	smart_Mbt,pfscan_Mbt		0.413	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	0	0		70	70		0.00		G	NM_001029880		7269837	-1	25		66		tier1	no_errors	ENST00000361972	ensembl	human	known	74_37	missense	26.88		SNP	0.995	A	25	66
PLEKHM2	23207	genome.wustl.edu	37	1	16057089	16057089	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16057089C>T	ENST00000375799.3	+	15	2498	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	PLEKHM2_ENST00000375793.2_Silent_p.S737S|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	757					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGACGAGTCCCTGGGCCCCA	0.652													ENSG00000116786																																					0													39.0	47.0	44.0					1																	16057089		2112	4211	6323	SO:0001819	synonymous_variant	0			-	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2271C>T	1.37:g.16057089C>T			O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.S757	ENST00000375799.3	37	c.2271	CCDS44063.1	1																																																																																			-	PLEKHM2	-	NULL		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	0	0		31	31		0.00		C	NM_015164		16057089	+1	9		24		tier1	no_errors	ENST00000375799	ensembl	human	known	74_37	silent	27.27		SNP	0.971	T	9	24
OBSCN	84033	genome.wustl.edu	37	1	228560206	228560206	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:228560206G>A	ENST00000422127.1	+	94	21771	c.21727G>A	c.(21727-21729)Gag>Aag	p.E7243K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E8200K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4877K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7243					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGGGCTGAGAGCCCACT	0.682													ENSG00000154358																																					0													13.0	16.0	15.0					1																	228560206		2065	4189	6254	SO:0001583	missense	0			-	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21727G>A	1.37:g.228560206G>A	ENSP00000409493:p.Glu7243Lys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E7243K	ENST00000422127.1	37	c.21727	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008538	0.35415	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62941	-0.01;0.07	4.03	0.926	0.19430	.	.	.	.	.	T	0.46464	0.1394	N	0.24115	0.695	0.09310	N	1	B	0.34103	0.437	B	0.30401	0.115	T	0.27502	-1.0072	9	0.52906	T	0.07	.	12.8405	0.57800	0.0:0.4942:0.5058:0.0	.	7243	Q5VST9	OBSCN_HUMAN	K	7243;4877	ENSP00000409493:E7243K;ENSP00000355668:E4877K	ENSP00000355668:E4877K	E	+	1	0	OBSCN	226626829	0.000000	0.05858	0.001000	0.08648	0.219000	0.24729	-0.781000	0.04648	0.093000	0.17368	0.561000	0.74099	GAG	-	OBSCN	-	NULL		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		0	0		52	52		0.00		G	NM_052843		228560206	+1	22		59		tier1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	27.16		SNP	0.018	A	22	59
TMEM203	94107	genome.wustl.edu	37	9	140099807	140099807	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:140099807G>A	ENST00000343666.5	-	1	283	c.60C>T	c.(58-60)ttC>ttT	p.F20F	NDOR1_ENST00000427047.2_5'Flank|NDOR1_ENST00000344894.5_5'Flank|TMEM203_ENST00000537254.1_Silent_p.F20F|NDOR1_ENST00000458322.2_5'Flank|NDOR1_ENST00000371521.4_5'Flank|TPRN_ENST00000541945.1_5'Flank	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	20						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGGTGCACGAAGATCTCGA	0.672													ENSG00000187713																																					0													38.0	38.0	38.0					9																	140099807		2189	4285	6474	SO:0001819	synonymous_variant	0			-	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"""HBeAg-binding protein 1"""					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.60C>T	9.37:g.140099807G>A			Q6NW08	Silent	SNP	pfam_TM_Fragile-X-F-assoc	p.F20	ENST00000343666.5	37	c.60	CCDS35185.1	9																																																																																			-	TMEM203	-	pfam_TM_Fragile-X-F-assoc		0.672	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM203	HGNC	protein_coding	OTTHUMT00000055325.2	0	0		98	98		0.00		G	NM_053045		140099807	-1	24		149		tier1	no_errors	ENST00000343666	ensembl	human	known	74_37	silent	13.79		SNP	0.997	A	24	149
COL20A1	57642	genome.wustl.edu	37	20	61937270	61937270	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:61937270C>A	ENST00000358894.6	+	5	475	c.375C>A	c.(373-375)agC>agA	p.S125R	COL20A1_ENST00000422202.1_Missense_Mutation_p.S125R|COL20A1_ENST00000326996.6_Missense_Mutation_p.S125R|COL20A1_ENST00000435874.1_Missense_Mutation_p.S125R	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	125					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACAGGAGCAGCCAGAGGCCCC	0.652													ENSG00000101203																																					0													37.0	40.0	39.0					20																	61937270		1946	4134	6080	SO:0001583	missense	0			-	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.375C>A	20.37:g.61937270C>A	ENSP00000351767:p.Ser125Arg		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,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.S125R	ENST00000358894.6	37	c.375	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947800	0.18356	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.86694	-2.15;-2.16;-2.1;-2.1	3.64	2.67	0.31697	.	0.466770	0.23716	U	0.045278	T	0.72851	0.3512	L	0.27053	0.805	0.09310	N	1	B	0.30763	0.294	B	0.24974	0.057	T	0.57306	-0.7834	10	0.20519	T	0.43	.	5.1942	0.15227	0.0:0.7567:0.0:0.2433	.	125	Q9P218	COKA1_HUMAN	R	125	ENSP00000351767:S125R;ENSP00000323077:S125R;ENSP00000408690:S125R;ENSP00000414753:S125R	ENSP00000323077:S125R	S	+	3	2	COL20A1	61407715	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.483000	0.22292	1.757000	0.51966	0.467000	0.42956	AGC	-	COL20A1	-	NULL		0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	0	0		45	45		0.00		C	NM_020882		61937270	+1	25		49		tier1	no_errors	ENST00000326996	ensembl	human	known	74_37	missense	33.78		SNP	0.002	A	25	49
SSH1	54434	genome.wustl.edu	37	12	109186349	109186349	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:109186349C>T	ENST00000326495.5	-	14	1699	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	SSH1_ENST00000551165.1_Missense_Mutation_p.E536K|SSH1_ENST00000326470.5_Missense_Mutation_p.E547K|SSH1_ENST00000360239.3_Missense_Mutation_p.E224K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	536					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E536Q(1)|p.E547Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTCCCTCTCCGGATCCTCC	0.627													ENSG00000084112																																					2	Substitution - Missense(2)	lung(2)											61.0	68.0	65.0					12																	109186349		2203	4300	6503	SO:0001583	missense	0			-	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1606G>A	12.37:g.109186349C>T	ENSP00000315713:p.Glu536Lys		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E536K	ENST00000326495.5	37	c.1606	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707215	0.68615	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.18338	2.24;2.26;2.26;2.22	5.58	5.58	0.84498	.	405.694000	0.00772	U	0.001214	T	0.48352	0.1495	M	0.71581	2.175	0.44570	D	0.997536	D;D;D;D	0.89917	0.995;0.995;0.991;1.0	D;D;P;D	0.68621	0.945;0.926;0.787;0.959	T	0.02009	-1.1230	10	0.41790	T	0.15	-38.6692	16.2381	0.82393	0.0:0.8674:0.1326:0.0	.	547;536;536;224	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	K	224;536;536;547	ENSP00000353374:E224K;ENSP00000315713:E536K;ENSP00000448824:E536K;ENSP00000326107:E547K	ENSP00000326107:E547K	E	-	1	0	SSH1	107710478	0.997000	0.39634	0.916000	0.36221	0.024000	0.10985	3.550000	0.53691	2.793000	0.96121	0.655000	0.94253	GAG	-	SSH1	-	NULL		0.627	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	0	0		74	74		0.00		C	NM_018984		109186349	-1	7		53		tier1	no_errors	ENST00000326495	ensembl	human	known	74_37	missense	11.67		SNP	0.999	T	7	53
SLC39A2	29986	genome.wustl.edu	37	14	21469209	21469209	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:21469209C>T	ENST00000298681.4	+	4	558	c.401C>T	c.(400-402)tCg>tTg	p.S134L	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	134					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GCTGGAGGATCGACAGTGCAG	0.547													ENSG00000165794																																					0													161.0	156.0	157.0					14																	21469209		2203	4300	6503	SO:0001583	missense	0			-	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.401C>T	14.37:g.21469209C>T	ENSP00000298681:p.Ser134Leu		B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	pfam_ZIP	p.S134L	ENST00000298681.4	37	c.401	CCDS9563.1	14	.	.	.	.	.	.	.	.	.	.	C	8.863	0.947440	0.18356	.	.	ENSG00000165794	ENST00000298681	T	0.51071	0.72	5.17	4.29	0.51040	.	1.001530	0.08049	N	0.996430	T	0.41282	0.1152	L	0.51422	1.61	0.09310	N	1	P	0.40875	0.731	B	0.32465	0.146	T	0.23762	-1.0179	10	0.38643	T	0.18	0.0146	11.6579	0.51328	0.0:0.9142:0.0:0.0858	.	134	Q9NP94	S39A2_HUMAN	L	134	ENSP00000298681:S134L	ENSP00000298681:S134L	S	+	2	0	SLC39A2	20539049	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	1.713000	0.37951	1.408000	0.46895	0.655000	0.94253	TCG	-	SLC39A2	-	pfam_ZIP		0.547	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A2	HGNC	protein_coding	OTTHUMT00000073829.2	0	0		90	90		0.00		C	NM_014579		21469209	+1	28		89		tier1	no_errors	ENST00000298681	ensembl	human	known	74_37	missense	23.93		SNP	0.016	T	28	89
CDC42BPA	8476	genome.wustl.edu	37	1	227333377	227333377	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:227333377C>T	ENST00000366769.3	-	8	2247	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AATGAGCCTTCGAATAAGATC	0.368													ENSG00000143776																																					0													90.0	89.0	89.0					1																	227333377		2203	4300	6503	SO:0001583	missense	0			-	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.956G>A	1.37:g.227333377C>T	ENSP00000355731:p.Arg319Gln			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R319Q	ENST00000366769.3	37	c.956	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773959	0.49786	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.17922	0.545	0.80722	D	1	D;D;P;B	0.76494	0.998;0.999;0.803;0.376	D;P;B;B	0.71870	0.975;0.809;0.147;0.065	T	0.61584	-0.7033	10	0.20046	T	0.44	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	319;319;319;319	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	Q	319	ENSP00000355731:R319Q;ENSP00000355729:R319Q;ENSP00000335341:R319Q;ENSP00000355728:R319Q;ENSP00000355726:R319Q;ENSP00000443275:R319Q;ENSP00000355727:R319Q	ENSP00000335341:R319Q	R	-	2	0	CDC42BPA	225400000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.086000	0.57664	2.805000	0.96524	0.655000	0.94253	CGA	-	CDC42BPA	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	0	0		63	63		0.00		C	NM_014826		227333377	-1	15		71		tier1	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	17.44		SNP	1.000	T	15	71
PHLDB3	653583	genome.wustl.edu	37	19	43982237	43982237	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:43982237C>T	ENST00000292140.5	-	15	2110	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	584	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TAGACTTCCTCAATGGCCTGG	0.498													ENSG00000176531																																					0													109.0	107.0	108.0					19																	43982237		1999	4186	6185	SO:0001583	missense	0			-		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1750G>A	19.37:g.43982237C>T	ENSP00000292140:p.Glu584Lys		Q8N7Z4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E584K	ENST00000292140.5	37	c.1750	CCDS12621.2	19	.	.	.	.	.	.	.	.	.	.	C	32	5.107797	0.94292	.	.	ENSG00000176531	ENST00000292140	T	0.52295	0.67	4.41	4.41	0.53225	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000011	T	0.63931	0.2553	L	0.52905	1.665	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.67484	-0.5659	10	0.87932	D	0	.	15.3614	0.74478	0.0:1.0:0.0:0.0	.	254;584	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	K	584	ENSP00000292140:E584K	ENSP00000292140:E584K	E	-	1	0	PHLDB3	48674077	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.017000	0.76399	2.419000	0.82065	0.555000	0.69702	GAG	-	PHLDB3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	0	0		62	62		0.00		C			43982237	-1	26		50		tier1	no_errors	ENST00000292140	ensembl	human	known	74_37	missense	34.21		SNP	0.999	T	26	50
IL18RAP	8807	genome.wustl.edu	37	2	103040419	103040419	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:103040419C>T	ENST00000264260.2	+	4	808	c.219C>T	c.(217-219)ttC>ttT	p.F73F	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	73					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACCTGCCCTTCATGGGTAGTA	0.433													ENSG00000115607																																					0													87.0	80.0	83.0					2																	103040419		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.219C>T	2.37:g.103040419C>T			B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.F73	ENST00000264260.2	37	c.219	CCDS2061.1	2																																																																																			-	IL18RAP	-	NULL		0.433	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18RAP	HGNC	protein_coding	OTTHUMT00000253291.2	0	0		50	50		0.00		C	NM_003853		103040419	+1	9		64		tier1	no_errors	ENST00000264260	ensembl	human	known	74_37	silent	12.33		SNP	0.006	T	9	64
ABHD17A	81926	genome.wustl.edu	37	19	1877606	1877606	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1877606T>A	ENST00000292577.7	-	4	1041	c.608A>T	c.(607-609)tAc>tTc	p.Y203F	CTB-31O20.2_ENST00000565797.1_lincRNA|ABHD17A_ENST00000250974.9_Missense_Mutation_p.Y254F|CTB-31O20.9_ENST00000592720.1_lincRNA|ABHD17A_ENST00000590661.1_Missense_Mutation_p.T172S	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	203						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGCACACTCGTAGCGCGAGGC	0.682													ENSG00000129968																																					0													10.0	11.0	11.0					19																	1877606		2106	4076	6182	SO:0001583	missense	0			-	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.608A>T	19.37:g.1877606T>A	ENSP00000292577:p.Tyr203Phe		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	pfam_Dienelactn_hydro	p.Y254F	ENST00000292577.7	37	c.761	CCDS45902.1	19	.	.	.	.	.	.	.	.	.	.	t	13.93	2.384171	0.42308	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.23348	1.91;1.91	4.36	3.34	0.38264	.	0.187781	0.47455	D	0.000233	T	0.18882	0.0453	L	0.40543	1.245	0.20563	N	0.999887	B;B;B	0.17038	0.011;0.008;0.02	B;B;B	0.21151	0.033;0.029;0.03	T	0.17868	-1.0355	10	0.45353	T	0.12	-1.2498	5.7825	0.18314	0.0:0.0932:0.1688:0.738	.	203;254;203	Q96GS6;Q96GS6-2;Q96GS6-3	F18A1_HUMAN;.;.	F	254;203	ENSP00000250974:Y254F;ENSP00000292577:Y203F	ENSP00000250974:Y254F	Y	-	2	0	FAM108A1	1828606	1.000000	0.71417	0.926000	0.36857	0.946000	0.59487	3.273000	0.51623	0.649000	0.30751	0.459000	0.35465	TAC	-	ABHD17A	-	pfam_Dienelactn_hydro		0.682	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2	0	0		45	45		0.00		T	NM_031213		1877606	-1	19		22		tier1	no_errors	ENST00000250974	ensembl	human	known	74_37	missense	46.34		SNP	0.968	A	19	22
PLCH2	9651	genome.wustl.edu	37	1	2428090	2428090	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:2428090C>T	ENST00000419816.2	+	14	2154	c.1880C>T	c.(1879-1881)tCt>tTt	p.S627F	PLCH2_ENST00000449969.1_Missense_Mutation_p.S600F|PLCH2_ENST00000378488.3_Missense_Mutation_p.S627F|RP3-395M20.3_ENST00000442305.1_RNA|PLCH2_ENST00000378486.3_Missense_Mutation_p.S627F|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	627	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGGGCCCTCTCTGACCTGGTG	0.677													ENSG00000149527																																					0													28.0	34.0	32.0					1																	2428090		1981	4147	6128	SO:0001583	missense	0			-	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1880C>T	1.37:g.2428090C>T	ENSP00000389803:p.Ser627Phe		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S627F	ENST00000419816.2	37	c.1880		1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880295	0.91740	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.71222	-0.55;-0.55;-0.55	4.57	4.57	0.56435	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.89385	0.6700	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.93269	0.6650	10	0.87932	D	0	.	16.3491	0.83195	0.0:1.0:0.0:0.0	.	474;415;600;627	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	F	600;627;627;474;415	ENSP00000397289:S600F;ENSP00000367747:S627F;ENSP00000367749:S627F	ENSP00000278878:S415F	S	+	2	0	PLCH2	2417950	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.165000	0.77544	2.087000	0.62958	0.561000	0.74099	TCT	-	PLCH2	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.677	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1	0	0		114	114		0.00		C	NM_014638		2428090	+1	54		93		tier1	no_errors	ENST00000378486	ensembl	human	known	74_37	missense	36.73		SNP	1.000	T	54	93
KCNK4	50801	genome.wustl.edu	37	11	64064350	64064350	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64064350G>A	ENST00000539216.1	+	2	550	c.190G>A	c.(190-192)Gag>Aag	p.E64K	KCNK4_ENST00000538767.1_5'UTR|KCNK4_ENST00000394525.2_Splice_Site_p.E64K|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000422670.2_Splice_Site_p.E64K			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	64					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TGTCCTGCAGGAGGTGGCTGA	0.617													ENSG00000182450																																					0													43.0	50.0	47.0					11																	64064350		2201	4297	6498	SO:0001630	splice_region_variant	0			-	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.190-1G>A	11.37:g.64064350G>A			B5TJL1|Q96T94	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.E64K	ENST00000539216.1	37	c.190	CCDS8067.1	11	.	.	.	.	.	.	.	.	.	.	g	11.63	1.697006	0.30142	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.15834	2.39;2.39;2.39	5.3	3.01	0.34805	.	1.040070	0.07620	N	0.926843	T	0.10380	0.0254	N	0.22421	0.69	0.40793	D	0.983279	B	0.10296	0.003	B	0.14578	0.011	T	0.19418	-1.0306	10	0.06099	T	0.92	.	7.6051	0.28097	0.099:0.3307:0.5702:0.0	.	64	Q9NYG8	KCNK4_HUMAN	K	64;89;64;126;64	ENSP00000402797:E64K;ENSP00000378033:E64K;ENSP00000444948:E64K	ENSP00000378033:E64K	E	+	1	0	KCNK4	63820926	0.998000	0.40836	1.000000	0.80357	0.789000	0.44602	0.616000	0.24344	1.205000	0.43262	0.550000	0.68814	GAG	-	KCNK4	-	prints_2pore_dom_K_chnl_TREK		0.617	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNK4	HGNC	protein_coding	OTTHUMT00000396430.1	0	0		38	38		0.00		G	NM_033311	Missense_Mutation	64064350	+1	30		57		tier1	no_errors	ENST00000394525	ensembl	human	known	74_37	missense	34.48		SNP	0.994	A	30	57
CHEK2	11200	genome.wustl.edu	37	22	29115390	29115390	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:29115390G>A	ENST00000405598.1	-	6	867	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.L135F|CHEK2_ENST00000544772.1_Missense_Mutation_p.L5F|CHEK2_ENST00000402731.1_Missense_Mutation_p.L226F|CHEK2_ENST00000328354.6_Missense_Mutation_p.L226F|CHEK2_ENST00000348295.3_Missense_Mutation_p.L226F|CHEK2_ENST00000382566.1_Missense_Mutation_p.L226F|CHEK2_ENST00000382580.2_Missense_Mutation_p.L269F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L135F|CHEK2_ENST00000404276.1_Missense_Mutation_p.L226F			O96017	CHK2_HUMAN	checkpoint kinase 2	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TACCTTCCAAGAGTTTTTGAC	0.289			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					ENSG00000183765																											yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													34.0	36.0	35.0					22																	29115390		2183	4282	6465	SO:0001583	missense	0			-	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.676C>T	22.37:g.29115390G>A	ENSP00000386087:p.Leu226Phe		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom	p.L269F	ENST00000405598.1	37	c.805	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681670	0.68042	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000425190;ENST00000439200	T;T;T;T;T;T;T;T;T;T;T;T	0.64991	0.14;-0.13;-0.13;0.09;-0.13;-0.13;-0.13;-0.13;-0.13;0.14;0.98;0.14	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056519	0.64402	D	0.000005	D	0.84759	0.5543	H	0.98295	4.195	0.53688	D	0.999972	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.998;1.0;1.0	D;D;D;D;D;D;D	0.78314	0.984;0.957;0.973;0.965;0.965;0.991;0.985	D	0.87538	0.2457	10	0.87932	D	0	-9.685	6.8264	0.23885	0.091:0.0:0.7321:0.1769	.	226;135;5;226;226;226;269	O96017-7;O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;.;CHK2_HUMAN;.	F	226;135;5;226;226;226;226;269;135;226;5;257	ENSP00000329012:L226F;ENSP00000372021:L135F;ENSP00000442458:L5F;ENSP00000372007:L226F;ENSP00000329178:L226F;ENSP00000385747:L226F;ENSP00000386087:L226F;ENSP00000372023:L269F;ENSP00000384919:L135F;ENSP00000384835:L226F;ENSP00000390244:L5F;ENSP00000408065:L257F	ENSP00000329178:L226F	L	-	1	0	CHEK2	27445390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.613000	0.46351	2.595000	0.87683	0.555000	0.69702	CTT	-	CHEK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.289	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	0	0		64	64		0.00		G	NM_001005735		29115390	-1	38		47		tier1	no_errors	ENST00000382580	ensembl	human	known	74_37	missense	44.71		SNP	1.000	A	38	47
TPK1	27010	genome.wustl.edu	37	7	144463043	144463043	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:144463043C>T	ENST00000360057.3	-	3	147	c.45G>A	c.(43-45)ggG>ggA	p.G15G	TPK1_ENST00000378099.3_Splice_Site_p.G15G	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	15					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACTTCAAATTCCCTAGAGAAA	0.318													ENSG00000196511																									Ovarian(45;88 1034 2073 5829 28455)												0													72.0	81.0	78.0					7																	144463043		2203	4299	6502	SO:0001630	splice_region_variant	0			-	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.44-1G>A	7.37:g.144463043C>T			A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Silent	SNP	pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase	p.G15	ENST00000360057.3	37	c.45	CCDS5888.1	7																																																																																			-	TPK1	-	superfamily_TPK_catalytic,pirsf_Thiamin_pyrophosphokinase_euk		0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPK1	HGNC	protein_coding	OTTHUMT00000327777.1	0	0		25	25		0.00		C	NM_022445	Silent	144463043	-1	7		21		tier1	no_errors	ENST00000360057	ensembl	human	known	74_37	silent	25.00		SNP	0.529	T	7	21
CNN2	1265	genome.wustl.edu	37	19	1032435	1032435	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1032435G>T	ENST00000263097.4	+	3	593	c.230G>T	c.(229-231)cGc>cTc	p.R77L	CNN2_ENST00000565096.2_Missense_Mutation_p.R77L|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.R77L|CNN2_ENST00000562958.2_Missense_Mutation_p.R77L	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	77	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATCAACCGCTCCATGCAG	0.622													ENSG00000064666																																					0													89.0	90.0	90.0					19																	1032435		2203	4300	6503	SO:0001583	missense	0			-	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.230G>T	19.37:g.1032435G>T	ENSP00000263097:p.Arg77Leu		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.R77L	ENST00000263097.4	37	c.230	CCDS12053.1	19	.	.	.	.	.	.	.	.	.	.	G	12.49	1.955031	0.34471	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.60548	0.18;0.18	3.52	3.52	0.40303	Calponin homology domain (5);	0.634174	0.15068	U	0.282365	T	0.46229	0.1382	L	0.41124	1.26	0.28806	N	0.898516	P;B;B;B;B	0.34684	0.463;0.001;0.0;0.098;0.001	B;B;B;B;B	0.34652	0.187;0.012;0.005;0.079;0.012	T	0.45614	-0.9249	10	0.46703	T	0.11	.	8.1518	0.31145	0.0:0.0:0.7603:0.2396	.	77;77;77;77;77	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	L	77;77;56	ENSP00000263097:R77L;ENSP00000340129:R77L	ENSP00000263097:R77L	R	+	2	0	CNN2	983435	0.986000	0.35501	1.000000	0.80357	0.949000	0.60115	1.171000	0.31896	1.827000	0.53221	0.306000	0.20318	CGC	-	CNN2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin		0.622	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3	0	0		38	38		0.00		G	NM_004368		1032435	+1	7		24		tier1	no_errors	ENST00000263097	ensembl	human	known	74_37	missense	22.58		SNP	1.000	T	7	24
SUSD2	56241	genome.wustl.edu	37	22	24581170	24581170	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:24581170G>A	ENST00000358321.3	+	6	1152	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	297	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				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						AGGCCTGGGAGGAGCTGGAGG	0.677													ENSG00000099994																																					0													28.0	28.0	28.0					22																	24581170		2203	4300	6503	SO:0001819	synonymous_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.891G>A	22.37:g.24581170G>A			Q9H5Y6	Silent	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.E297	ENST00000358321.3	37	c.891	CCDS13824.1	22																																																																																			-	SUSD2	-	pfam_AMOP,smart_AMOP,pfscan_AMOP		0.677	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	0	0		72	72		0.00		G	NM_019601		24581170	+1	27		65		tier1	no_errors	ENST00000358321	ensembl	human	known	74_37	silent	29.35		SNP	0.755	A	27	65
OR5H1	26341	genome.wustl.edu	37	3	97851550	97851550	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:97851550G>A	ENST00000354565.2	+	1	9	c.9G>A	c.(7-9)gaG>gaA	p.E3E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACATGGAAGAGGAAAATGCAA	0.398													ENSG00000231192																																					0													82.0	83.0	83.0					3																	97851550		2202	4292	6494	SO:0001819	synonymous_variant	0			-	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.9G>A	3.37:g.97851550G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E3	ENST00000354565.2	37	c.9	CCDS33797.1	3																																																																																			-	OR5H1	-	NULL		0.398	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	0	0		93	93		0.00		G	NM_001005338		97851550	+1	50		75		tier1	no_errors	ENST00000354565	ensembl	human	known	74_37	silent	40.00		SNP	0.000	A	50	75
KCNJ13	3769	genome.wustl.edu	37	2	233633287	233633287	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233633287C>T	ENST00000233826.3	-	3	836	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409196.3_Intron|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.E233K|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	233					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		AATGGACATTCGTCAGAACTG	0.453													ENSG00000115474																																					0													174.0	140.0	152.0					2																	233633287		2203	4300	6503	SO:0001583	missense	0			-	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.697G>A	2.37:g.233633287C>T	ENSP00000233826:p.Glu233Lys		A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_KCNJ13,prints_K_chnl_inward-rec_Kir	p.E233K	ENST00000233826.3	37	c.697	CCDS2498.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145108	0.77888	.	.	ENSG00000115474	ENST00000233826;ENST00000410029;ENST00000438786	D;D;D	0.94457	-3.43;-3.43;-3.43	6.07	6.07	0.98685	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.142736	0.64402	D	0.000005	D	0.96408	0.8828	M	0.73217	2.22	0.46061	D	0.998843	D	0.65815	0.995	P	0.55508	0.777	D	0.96171	0.9123	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	233	O60928	IRK13_HUMAN	K	233;233;153	ENSP00000233826:E233K;ENSP00000386251:E233K;ENSP00000407284:E153K	ENSP00000233826:E233K	E	-	1	0	KCNJ13	233341531	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.223000	0.58587	2.885000	0.99019	0.655000	0.94253	GAA	-	KCNJ13	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.453	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ13	HGNC	protein_coding	OTTHUMT00000257036.1	0	0		72	72		0.00		C	NM_002242		233633287	-1	37		59		tier1	no_errors	ENST00000233826	ensembl	human	known	74_37	missense	38.54		SNP	1.000	T	37	59
RSAD1	55316	genome.wustl.edu	37	17	48560724	48560724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48560724C>T	ENST00000258955.2	+	6	1013	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	310					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ATTTATGCCCCAGGGGGCTGG	0.542													ENSG00000136444																																					0													36.0	38.0	37.0					17																	48560724		2203	4300	6503	SO:0001587	stop_gained	0			-	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.928C>T	17.37:g.48560724C>T	ENSP00000258955:p.Gln310*		B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Nonsense_Mutation	SNP	pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.Q310*	ENST00000258955.2	37	c.928	CCDS11569.1	17	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718042	0.30503	.	.	ENSG00000136444	ENST00000258955	.	.	.	5.15	5.15	0.70609	.	0.769159	0.12234	N	0.487150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.8008	13.0224	0.58796	0.0:0.9206:0.0:0.0794	.	.	.	.	X	310	.	ENSP00000258955:Q310X	Q	+	1	0	RSAD1	45915723	0.981000	0.34729	0.992000	0.48379	0.014000	0.08584	2.495000	0.45337	2.572000	0.86782	0.563000	0.77884	CAG	-	RSAD1	-	pfam_HemN_C_dom,tigrfam_Coprogen_oxidase_HemN-rel		0.542	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	HGNC	protein_coding	OTTHUMT00000367413.1	0	0		49	49		0.00		C	NM_018346		48560724	+1	40		55		tier1	no_errors	ENST00000258955	ensembl	human	known	74_37	nonsense	42.11		SNP	1.000	T	40	55
ADAMTS12	81792	genome.wustl.edu	37	5	33684046	33684046	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:33684046G>A	ENST00000504830.1	-	4	1084	c.749C>T	c.(748-750)aCa>aTa	p.T250I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T250I|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	250	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACCACCAGTGTCTCCACCCA	0.527										HNSCC(64;0.19)			ENSG00000151388																																					0													134.0	124.0	127.0					5																	33684046		2203	4300	6503	SO:0001583	missense	0			-	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.749C>T	5.37:g.33684046G>A	ENSP00000422554:p.Thr250Ile		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T250I	ENST00000504830.1	37	c.749	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863297	0.91511	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.18;0.18	4.86	4.86	0.63082	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.047294	0.85682	D	0.000000	T	0.74726	0.3754	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.98	T	0.75113	-0.3432	10	0.49607	T	0.09	.	18.5475	0.91053	0.0:0.0:1.0:0.0	.	250;250	P58397-3;P58397	.;ATS12_HUMAN	I	250	ENSP00000422554:T250I;ENSP00000344847:T250I	ENSP00000344847:T250I	T	-	2	0	ADAMTS12	33719803	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	9.508000	0.98000	2.685000	0.91497	0.544000	0.68410	ACA	-	ADAMTS12	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	0	0		16	16		0.00		G	NM_030955		33684046	-1	6		17		tier1	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	26.09		SNP	1.000	A	6	17
APPBP2	10513	genome.wustl.edu	37	17	58603353	58603353	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:58603353C>T	ENST00000083182.3	-	0	227				RP11-15E18.1_ENST00000559739.1_RNA|RP11-15E18.1_ENST00000558027.1_RNA	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2						intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CACCTCCCTCCGTAGCGAACC	0.711													ENSG00000062725																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.-61G>A	17.37:g.58603353C>T			A8K862|O95095|Q8WVC9	R	SNP	-	NULL	ENST00000083182.3	37	NULL	CCDS32699.1	17																																																																																			-	APPBP2	-	-		0.711	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1	0	0		34	34		0.00		C	NM_006380		58603353	-1	27		45		tier1	no_errors	ENST00000590244	ensembl	human	known	74_37	rna	36.99		SNP	1.000	T	27	45
SLC25A36	55186	genome.wustl.edu	37	3	140660753	140660753	+	5'UTR	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140660753G>C	ENST00000324194.6	+	0	25				SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000453248.2_5'UTR|SLC25A36_ENST00000446041.2_5'UTR|SLC25A36_ENST00000507429.1_5'UTR			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36						response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TGTGCCGGTTGCTTTCTGCAG	0.736													ENSG00000114120																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.-144G>C	3.37:g.140660753G>C			A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	R	SNP	-	NULL	ENST00000324194.6	37	NULL	CCDS46927.1	3																																																																																			-	SLC25A36	-	-		0.736	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	0	0		13	13		0.00		G	NM_018155		140660753	+1	11		23		tier1	no_errors	ENST00000393015	ensembl	human	known	74_37	rna	32.35		SNP	0.000	C	11	23
ARHGEF11	9826	genome.wustl.edu	37	1	156915734	156915734	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:156915734G>A	ENST00000361409.2	-	28	3435				ARHGEF11_ENST00000315174.8_Intron|ARHGEF11_ENST00000368194.3_Intron|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGACACCAAAGACCACAAGGC	0.483													ENSG00000132694																																					0																																										SO:0001627	intron_variant	0			-	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2692+102C>T	1.37:g.156915734G>A			D3DVD0|Q5VY40|Q6PFW2	R	SNP	-	NULL	ENST00000361409.2	37	NULL	CCDS1162.1	1																																																																																			-	ARHGEF11	-	-		0.483	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	0	0		15	15		0.00		G	NM_198236		156915734	-1	10		15		tier1	no_errors	ENST00000461678	ensembl	human	known	74_37	rna	40.00		SNP	0.308	A	10	15
IFITM5	387733	genome.wustl.edu	37	11	299458	299458	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:299458C>T	ENST00000382614.2	-	1	68	c.33G>A	c.(31-33)cgG>cgA	p.R11R		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	11					bone mineralization (GO:0030282)|regulation of bone mineralization (GO:0030500)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCGTGGGGGCCCGGGTGTCCT	0.687													ENSG00000206013																																					0													22.0	21.0	21.0					11																	299458		2160	4259	6419	SO:0001819	synonymous_variant	0			-	AA463818, CR747200, DY654432	CCDS31323.1	11p15.5	2010-05-12			ENSG00000206013	ENSG00000206013			16644	protein-coding gene	gene with protein product		614757				11106657, 12659663, 18442316	Standard	NM_001025295		Approved	fragilis4, Hrmp1, BRIL	uc001low.2	A6NNB3	OTTHUMG00000165355	ENST00000382614.2:c.33G>A	11.37:g.299458C>T				Silent	SNP	pfam_CD225/Dispanin_fam	p.R11	ENST00000382614.2	37	c.33	CCDS31323.1	11																																																																																			-	IFITM5	-	NULL		0.687	IFITM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFITM5	HGNC	protein_coding	OTTHUMT00000383588.1	0	0		28	28		0.00		C	NM_001025295		299458	-1	22		41		tier1	no_errors	ENST00000382614	ensembl	human	known	74_37	silent	34.92		SNP	0.583	T	22	41
MUC16	94025	genome.wustl.edu	37	19	9076121	9076121	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9076121C>T	ENST00000397910.4	-	3	11528	c.11325G>A	c.(11323-11325)caG>caA	p.Q3775Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3776	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						AGAAGGGCAACTGTGAGGTAG	0.517													ENSG00000181143																																					0													148.0	145.0	146.0					19																	9076121		2059	4204	6263	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.11325G>A	19.37:g.9076121C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.Q3775	ENST00000397910.4	37	c.11325	CCDS54212.1	19																																																																																			-	MUC16	-	NULL		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0		46	46		0.00		C	NM_024690		9076121	-1	9		47		tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	16.07		SNP	0.000	T	9	47
PKHD1L1	93035	genome.wustl.edu	37	8	110471921	110471921	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:110471921G>A	ENST00000378402.5	+	47	7206	c.7102G>A	c.(7102-7104)Gga>Aga	p.G2368R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2368					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACACACTTAGGAATTACGGT	0.373										HNSCC(38;0.096)			ENSG00000205038																																					0													74.0	71.0	72.0					8																	110471921		1880	4114	5994	SO:0001583	missense	0			-	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7102G>A	8.37:g.110471921G>A	ENSP00000367655:p.Gly2368Arg		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.G2368R	ENST00000378402.5	37	c.7102	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336989	0.81801	.	.	ENSG00000205038	ENST00000378402	D	0.92149	-2.98	5.44	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.89414	3.03	0.36359	D	0.860557	D	0.69078	0.997	D	0.71414	0.973	D	0.98321	1.0528	10	0.66056	D	0.02	.	12.0866	0.53700	0.084:0.0:0.916:0.0	.	2368	Q86WI1	PKHL1_HUMAN	R	2368	ENSP00000367655:G2368R	ENSP00000367655:G2368R	G	+	1	0	PKHD1L1	110541097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.189000	0.72051	1.305000	0.44909	0.455000	0.32223	GGA	-	PKHD1L1	-	NULL		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	0	0		99	99		0.00		G	NM_177531		110471921	+1	27		55		tier1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	32.93		SNP	1.000	A	27	55
GRAMD2	196996	genome.wustl.edu	37	15	72455621	72455621	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:72455621C>A	ENST00000309731.7	-	10	955	c.942G>T	c.(940-942)aaG>aaT	p.K314N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	314						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CAAAGAAGACCTTGAGGAGCC	0.562													ENSG00000175318																																					0													53.0	56.0	55.0					15																	72455621		2199	4297	6496	SO:0001583	missense	0			-	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.942G>T	15.37:g.72455621C>A	ENSP00000311657:p.Lys314Asn		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.K314N	ENST00000309731.7	37	c.942	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410979	0.62399	.	.	ENSG00000175318	ENST00000309731	T	0.39229	1.09	5.46	3.58	0.41010	.	0.065503	0.64402	D	0.000009	T	0.56337	0.1978	L	0.61218	1.895	0.46149	D	0.998894	D	0.89917	1.0	D	0.74348	0.983	T	0.56486	-0.7971	10	0.52906	T	0.07	.	8.7505	0.34613	0.0:0.8246:0.0:0.1754	.	314	Q8IUY3	GRAM2_HUMAN	N	314	ENSP00000311657:K314N	ENSP00000311657:K314N	K	-	3	2	GRAMD2	70242675	0.974000	0.33945	1.000000	0.80357	0.640000	0.38277	0.207000	0.17395	1.310000	0.45006	0.655000	0.94253	AAG	-	GRAMD2	-	NULL		0.562	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	0	0		54	54		0.00		C	NM_001012642		72455621	-1	7		35		tier1	no_errors	ENST00000309731	ensembl	human	known	74_37	missense	16.67		SNP	1.000	A	7	35
HCRTR2	3062	genome.wustl.edu	37	6	55147026	55147026	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:55147026A>T	ENST00000370862.3	+	7	1445	c.1109A>T	c.(1108-1110)aAa>aTa	p.K370I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	370					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGCCAGGAAAATTTCGAGAG	0.443													ENSG00000137252																																					0													44.0	47.0	46.0					6																	55147026		2203	4300	6503	SO:0001583	missense	0			-	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1109A>T	6.37:g.55147026A>T	ENSP00000359899:p.Lys370Ile		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.K370I	ENST00000370862.3	37	c.1109	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	A	25.6	4.651234	0.88056	.	.	ENSG00000137252	ENST00000370862	T	0.39787	1.06	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.79343	2.45	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.65772	-0.6087	10	0.87932	D	0	.	15.6204	0.76802	1.0:0.0:0.0:0.0	.	370	O43614	OX2R_HUMAN	I	370	ENSP00000359899:K370I	ENSP00000359899:K370I	K	+	2	0	HCRTR2	55254985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.328000	0.90014	2.090000	0.63153	0.528000	0.53228	AAA	-	HCRTR2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.443	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	0	0		57	57		0.00		A			55147026	+1	11		43		tier1	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	20.37		SNP	1.000	T	11	43
MICAL1	64780	genome.wustl.edu	37	6	109765428	109765428	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:109765428C>T	ENST00000358807.3	-	25	3481	c.3170G>A	c.(3169-3171)aGc>aAc	p.S1057N	MICAL1_ENST00000358577.3_Missense_Mutation_p.S971N|MICAL1_ENST00000368952.4_Missense_Mutation_p.S1076N	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1057					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGCCAGCTCGCTGAGCCTGCG	0.637													ENSG00000135596																																					0													36.0	39.0	38.0					6																	109765428		2203	4300	6503	SO:0001583	missense	0			-	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3170G>A	6.37:g.109765428C>T	ENSP00000351664:p.Ser1057Asn		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.S1076N	ENST00000358807.3	37	c.3227	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941949	0.53079	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.44083	0.93;0.93;0.93	5.49	5.49	0.81192	Domain of unknown function DUF3585 (1);	0.395797	0.27986	N	0.017045	T	0.28599	0.0708	M	0.67953	2.075	0.29166	N	0.877466	B;B;B	0.15473	0.002;0.013;0.001	B;B;B	0.09377	0.003;0.004;0.003	T	0.15065	-1.0450	10	0.59425	D	0.04	.	14.8571	0.70347	0.0:1.0:0.0:0.0	.	1076;971;1057	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	N	1057;1076;971;581;313	ENSP00000351664:S1057N;ENSP00000357948:S1076N;ENSP00000351385:S971N	ENSP00000335372:S313N	S	-	2	0	MICAL1	109872121	0.981000	0.34729	0.968000	0.41197	0.835000	0.47333	2.515000	0.45512	2.582000	0.87167	0.462000	0.41574	AGC	-	MICAL1	-	pfam_DUF3585		0.637	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	0	0		39	39		0.00		C	NM_022765		109765428	-1	18		44		tier1	no_errors	ENST00000368952	ensembl	human	known	74_37	missense	29.03		SNP	0.980	T	18	44
ARHGEF1	9138	genome.wustl.edu	37	19	42396238	42396238	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42396238G>A	ENST00000354532.3	+	5	472				ARHGEF1_ENST00000347545.4_Intron|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000337665.4_Intron|ARHGEF1_ENST00000599846.1_Intron	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCCTGTTTGGGCCTGCAGAG	0.617													ENSG00000076928																																					0													35.0	33.0	34.0					19																	42396238		2203	4300	6503	SO:0001627	intron_variant	0			-	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.324+44G>A	19.37:g.42396238G>A			O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	R	SNP	-	NULL	ENST00000354532.3	37	NULL	CCDS12591.1	19																																																																																			-	ARHGEF1	-	-		0.617	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	0	0		21	21		0.00		G	NM_199002		42396238	+1	8		12		tier1	no_errors	ENST00000596957	ensembl	human	known	74_37	rna	40.00		SNP	0.000	A	8	12
BRWD1	54014	genome.wustl.edu	37	21	40566665	40566665	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:40566665G>A	ENST00000333229.2	-	41	6899				BRWD1_ENST00000380800.3_Missense_Mutation_p.S2195F|BRWD1_ENST00000342449.3_3'UTR	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATACACAGGAGAAAAGGTTTT	0.363													ENSG00000185658																									Melanoma(170;988 1986 4794 16843 39731)												0																																										SO:0001627	intron_variant	0			-	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6571+1758C>T	21.37:g.40566665G>A			C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S2195F	ENST00000333229.2	37	c.6584	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	1.228	-0.624877	0.03636	.	.	ENSG00000185658	ENST00000380800	T	0.53857	0.6	2.05	0.0993	0.14502	.	.	.	.	.	T	0.42653	0.1212	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37731	-0.9693	6	0.46703	T	0.11	.	4.1331	0.10158	0.3983:0.0:0.6017:0.0	.	.	.	.	F	2195	ENSP00000370178:S2195F	ENSP00000370178:S2195F	S	-	2	0	BRWD1	39488535	0.049000	0.20398	0.009000	0.14445	0.310000	0.27922	0.040000	0.13905	-0.000000	0.14550	0.205000	0.17691	TCT	-	BRWD1	-	NULL		0.363	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	0	0		47	47		0.00		G	NM_033656		40566665	-1	7		38		tier1	no_errors	ENST00000380800	ensembl	human	putative	74_37	missense	15.56		SNP	0.022	A	7	38
KCNK5	8645	genome.wustl.edu	37	6	39159496	39159496	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:39159496G>A	ENST00000359534.3	-	5	1008	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	224					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ACGAAGTAGCGGTACAGGGCG	0.562													ENSG00000164626																																					0													85.0	95.0	92.0					6																	39159496		2203	4300	6503	SO:0001583	missense	0			-	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.670C>T	6.37:g.39159496G>A	ENSP00000352527:p.Arg224Cys		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.R224C	ENST00000359534.3	37	c.670	CCDS4841.1	6	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410575	0.83340	.	.	ENSG00000164626	ENST00000359534	T	0.42131	0.98	5.57	5.57	0.84162	Ion transport 2 (1);	0.105878	0.64402	D	0.000007	T	0.42517	0.1206	M	0.89214	3.015	0.80722	D	1	P	0.39601	0.68	B	0.38842	0.283	T	0.56739	-0.7929	10	0.87932	D	0	.	14.2959	0.66314	0.0:0.0:0.8152:0.1848	.	224	O95279	KCNK5_HUMAN	C	224	ENSP00000352527:R224C	ENSP00000352527:R224C	R	-	1	0	KCNK5	39267474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.232000	0.58645	2.619000	0.88677	0.561000	0.74099	CGC	-	KCNK5	-	pfam_2pore_dom_K_chnl_dom		0.562	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	0	0		37	37		0.00		G	NM_003740		39159496	-1	12		69		tier1	no_errors	ENST00000359534	ensembl	human	known	74_37	missense	14.81		SNP	1.000	A	12	69
HS3ST4	9951	genome.wustl.edu	37	16	26146954	26146954	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:26146954G>A	ENST00000331351.5	+	2	1148	c.756G>A	c.(754-756)ttG>ttA	p.L252L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	252					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCAAGACTTTGGATGGGCAAA	0.433													ENSG00000182601																																					0													67.0	62.0	64.0					16																	26146954		1568	3582	5150	SO:0001819	synonymous_variant	0			-	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.756G>A	16.37:g.26146954G>A			Q5QI42|Q8NDC2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L252	ENST00000331351.5	37	c.756	CCDS53995.1	16																																																																																			-	HS3ST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.433	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	0	0		60	60		0.00		G	NM_006040		26146954	+1	17		80		tier1	no_errors	ENST00000331351	ensembl	human	known	74_37	silent	17.53		SNP	1.000	A	17	80
HRASLS5	117245	genome.wustl.edu	37	11	63233660	63233660	+	Silent	SNP	G	G	A	rs577620226		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63233660G>A	ENST00000301790.4	-	5	828	c.669C>T	c.(667-669)atC>atT	p.I223I	HRASLS5_ENST00000540857.1_Silent_p.I213I|HRASLS5_ENST00000539221.1_Silent_p.I223I			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	223							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTACTGCACGATCTTGTTGA	0.517													ENSG00000168004	G|||	1	0.000199681	0.0	0.0	5008	,	,		20111	0.0		0.0	False		,,,				2504	0.001																0													266.0	187.0	214.0					11																	63233660		2201	4298	6499	SO:0001819	synonymous_variant	0			-	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.669C>T	11.37:g.63233660G>A			B7X6T1|F5GZ87|F5H4Y9	Silent	SNP	pfam_LRAT-like_dom	p.I223	ENST00000301790.4	37	c.669	CCDS8044.1	11																																																																																			-	HRASLS5	-	pfam_LRAT-like_dom		0.517	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HRASLS5	HGNC	protein_coding	OTTHUMT00000396375.1	0	0		47	47		0.00		G	NM_054108		63233660	-1	19		45		tier1	no_errors	ENST00000301790	ensembl	human	known	74_37	silent	29.69		SNP	0.011	A	19	45
PCDHGA8	9708	genome.wustl.edu	37	5	140773133	140773133	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140773133C>T	ENST00000398604.2	+	1	753	c.753C>T	c.(751-753)gtC>gtT	p.V251V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	251	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)			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)			GAGTGAAAGTCCTTGAGAACA	0.527													ENSG00000253767																																					0													79.0	84.0	82.0					5																	140773133		1998	4174	6172	SO:0001819	synonymous_variant	0			-	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.753C>T	5.37:g.140773133C>T			A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V251	ENST00000398604.2	37	c.753	CCDS47291.1	5																																																																																			-	PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.527	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	0	0		31	31		0.00		C	NM_032088		140773133	+1	7		37		tier1	no_errors	ENST00000398604	ensembl	human	known	74_37	silent	15.91		SNP	0.024	T	7	37
SLIT3	6586	genome.wustl.edu	37	5	168135212	168135212	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:168135212C>T	ENST00000519560.1	-	26	3139				SLIT3_ENST00000332966.8_Intron|CTC-558O2.1_ENST00000521870.1_RNA|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Intron	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						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)			CAGCCCCTTCCCAACTCCATG	0.582													ENSG00000254042																									Ovarian(29;311 847 10864 17279 24903)												0																																										SO:0001627	intron_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.2720-107G>A	5.37:g.168135212C>T			A6H8U9|J3KNP3|O95804|Q9UFH5	R	SNP	-	NULL	ENST00000519560.1	37	NULL	CCDS4369.1	5																																																																																			-	CTC-558O2.1	-	-		0.582	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927969	Clone_based_vega_gene	protein_coding	OTTHUMT00000252792.4	0	0		19	19		0.00		C	NM_003062		168135212	+1	12		7		tier1	no_errors	ENST00000522615	ensembl	human	known	74_37	rna	63.16		SNP	0.000	T	12	7
ZMAT1	84460	genome.wustl.edu	37	X	101139137	101139137	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:101139137G>A	ENST00000372782.3	-	7	1309	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S421F|ZMAT1_ENST00000458570.1_Missense_Mutation_p.S250F	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	421						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGTTTCTACAGAGCTATCTCC	0.403													ENSG00000166432																																					0													250.0	234.0	239.0					X																	101139137		2203	4300	6503	SO:0001583	missense	0			-	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1262C>T	X.37:g.101139137G>A	ENSP00000361868:p.Ser421Phe		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tR_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.S421F	ENST00000372782.3	37	c.1262	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.571094	0.00895	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.25579	2.36;2.36;1.79	4.59	4.59	0.56863	.	0.148585	0.35495	N	0.003170	T	0.22513	0.0543	M	0.71036	2.16	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.43163	-0.9408	10	0.02654	T	1	-11.3637	9.0492	0.36365	0.0:0.0:0.7816:0.2184	.	421	Q5H9K5	ZMAT1_HUMAN	F	421;421;250	ENSP00000361868:S421F;ENSP00000437529:S421F;ENSP00000413044:S250F	ENSP00000361868:S421F	S	-	2	0	ZMAT1	101025793	0.057000	0.20700	0.060000	0.19600	0.020000	0.10135	1.315000	0.33608	2.508000	0.84585	0.600000	0.82982	TCT	-	ZMAT1	-	NULL		0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	0	0		39	39		0.00		G			101139137	-1	19		14		tier1	no_errors	ENST00000372782	ensembl	human	known	74_37	missense	57.58		SNP	0.085	A	19	14
ITIH1	3697	genome.wustl.edu	37	3	52823792	52823792	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52823792C>T	ENST00000273283.2	+	19	2267	c.2243C>T	c.(2242-2244)cCt>cTt	p.P748L	ITIH1_ENST00000405128.3_Missense_Mutation_p.P114L|ITIH1_ENST00000537050.1_Missense_Mutation_p.P460L|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.P606L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	748	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P748H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAAGTGACTCCTCAGAACATT	0.612													ENSG00000055957																																					1	Substitution - Missense(1)	large_intestine(1)											102.0	95.0	97.0					3																	52823792		2203	4300	6503	SO:0001583	missense	0			-		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2243C>T	3.37:g.52823792C>T	ENSP00000273283:p.Pro748Leu		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.P748L	ENST00000273283.2	37	c.2243	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890105	0.72524	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.63	5.63	0.86233	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.058706	0.64402	D	0.000002	T	0.40979	0.1139	M	0.80746	2.51	0.58432	D	0.99999	P;D;D;D	0.76494	0.728;0.993;0.999;0.988	P;D;D;D	0.73708	0.458;0.94;0.981;0.933	T	0.27226	-1.0080	10	0.72032	D	0.01	-12.4208	16.6082	0.84836	0.0:1.0:0.0:0.0	.	606;114;349;748	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	L	748;606;460;301;114	ENSP00000273283:P748L;ENSP00000443973:P606L;ENSP00000443847:P460L;ENSP00000395836:P301L;ENSP00000384589:P114L	ENSP00000273283:P748L	P	+	2	0	ITIH1	52798832	0.998000	0.40836	0.998000	0.56505	0.349000	0.29174	3.203000	0.51075	2.644000	0.89710	0.563000	0.77884	CCT	-	ITIH1	-	pfam_ITI_HC_C		0.612	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	0	0		50	50		0.00		C	NM_002215		52823792	+1	12		56		tier1	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	17.39		SNP	1.000	T	12	56
ITIH4	3700	genome.wustl.edu	37	3	52852107	52852107	+	Missense_Mutation	SNP	G	G	A	rs376241378		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52852107G>A	ENST00000266041.4	-	20	2353	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	ITIH4_ENST00000406595.1_Missense_Mutation_p.R723C|ITIH4_ENST00000346281.5_Missense_Mutation_p.R737C|ITIH4_ENST00000485816.1_Missense_Mutation_p.R758C|ITIH4_ENST00000467462.1_5'Flank|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	753					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGCCCCTGGCGGTGTCTGGGG	0.662													ENSG00000055955																																					0								G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	68.0	65.0		2167,2257	-9.6	0.0	3		65	0,8600		0,0,4300	no	missense,missense	ITIH4	NM_001166449.1,NM_002218.4	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	723/901,753/931	52852107	1,13005	2203	4300	6503	SO:0001583	missense	0			-	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2257C>T	3.37:g.52852107G>A	ENSP00000266041:p.Arg753Cys		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R753C	ENST00000266041.4	37	c.2257	CCDS2865.1	3	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777820	0.49786	2.27E-4	0.0	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.01446	4.93;4.88;4.93;4.92	4.8	-9.6	0.00553	.	0.972957	0.08429	N	0.947267	T	0.00906	0.0030	N	0.22421	0.69	0.09310	N	1	P;P;P	0.44816	0.844;0.587;0.752	B;B;B	0.36418	0.224;0.161;0.224	T	0.31641	-0.9936	10	0.59425	D	0.04	0.0045	0.8942	0.01260	0.2007:0.219:0.1502:0.4301	.	723;758;753	E9PGN5;B7ZKJ8;Q14624	.;.;ITIH4_HUMAN	C	753;737;758;723;711	ENSP00000266041:R753C;ENSP00000340520:R737C;ENSP00000417824:R758C;ENSP00000384425:R723C	ENSP00000266041:R753C	R	-	1	0	ITIH4	52827147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.677000	0.05215	-2.120000	0.00826	-0.302000	0.09304	CGC	-	ITIH4	-	NULL		0.662	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1	0	0		32	32		0.00		G	NM_002218		52852107	-1	11		27		tier1	no_errors	ENST00000266041	ensembl	human	known	74_37	missense	28.95		SNP	0.000	A	11	27
PCLO	27445	genome.wustl.edu	37	7	82545983	82545983	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82545983C>T	ENST00000333891.9	-	7	11656	c.11319G>A	c.(11317-11319)gtG>gtA	p.V3773V	PCLO_ENST00000423517.2_Silent_p.V3773V|PCLO_ENST00000437081.1_Silent_p.V493V	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						ACTCCCTTTCCACAAGATCAA	0.448													ENSG00000186472																																					0													125.0	112.0	116.0					7																	82545983		1901	4135	6036	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.11319G>A	7.37:g.82545983C>T				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.V3773	ENST00000333891.9	37	c.11319	CCDS47630.1	7																																																																																			-	PCLO	-	NULL		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		41	41		0.00		C	NM_014510		82545983	-1	10		26		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	27.78		SNP	0.616	T	10	26
PRR23A	729627	genome.wustl.edu	37	3	138724344	138724344	+	Missense_Mutation	SNP	G	G	A	rs531909017		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:138724344G>A	ENST00000383163.2	-	1	766	c.767C>T	c.(766-768)cCg>cTg	p.P256L	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	256	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GGCCTTGCACGGAGGGCGTTT	0.647													ENSG00000206260																																					0													18.0	18.0	18.0					3																	138724344		692	1591	2283	SO:0001583	missense	0			-		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.767C>T	3.37:g.138724344G>A	ENSP00000372649:p.Pro256Leu			Missense_Mutation	SNP	pfam_UPF0572	p.P256L	ENST00000383163.2	37	c.767	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357779	0.24598	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.23	-1.08	0.09936	.	1.353140	0.05163	N	0.498130	T	0.15998	0.0385	L	0.35854	1.095	0.09310	N	1	P	0.39920	0.695	B	0.26310	0.068	T	0.16364	-1.0405	9	0.28530	T	0.3	.	1.5445	0.02562	0.1165:0.183:0.327:0.3735	.	256	A6NEV1	PR23A_HUMAN	L	256	.	ENSP00000372649:P256L	P	-	2	0	PRR23A	140207034	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.452000	0.06787	-0.231000	0.09825	0.591000	0.81541	CCG	-	PRR23A	-	pfam_UPF0572		0.647	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	HGNC	protein_coding	OTTHUMT00000361503.1	0	0		73	73		0.00		G	NM_001134659		138724344	-1	18		67		tier1	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	21.18		SNP	0.000	A	18	67
RYR2	6262	genome.wustl.edu	37	1	237811832	237811832	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237811832G>A	ENST00000366574.2	+	49	7748	c.7431G>A	c.(7429-7431)ggG>ggA	p.G2477G	RYR2_ENST00000542537.1_Silent_p.G2461G|RYR2_ENST00000360064.6_Silent_p.G2475G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2477	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)			GGGTCTATGGGATTGAGGTTC	0.502													ENSG00000198626																																					0													105.0	98.0	100.0					1																	237811832		1919	4137	6056	SO:0001819	synonymous_variant	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.7431G>A	1.37:g.237811832G>A			Q15411|Q546N8|Q5T3P2	Silent	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.G2475	ENST00000366574.2	37	c.7425	CCDS55691.1	1																																																																																			-	RYR2	-	NULL		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0		47	47		0.00		G	NM_001035		237811832	+1	16		74		tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	17.78		SNP	0.045	A	16	74
DDAH2	23564	genome.wustl.edu	37	6	31696749	31696749	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31696749G>T	ENST00000375789.2	-	1	820	c.190C>A	c.(190-192)Cca>Aca	p.P64T	DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375787.2_Missense_Mutation_p.P64T|DDAH2_ENST00000375792.3_Missense_Mutation_p.P64T			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	64					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	TCCTCAGGTGGCAGTTCTAGC	0.647													ENSG00000213722																																					0													103.0	63.0	77.0					6																	31696749		1511	2709	4220	SO:0001583	missense	0			-	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.190C>A	6.37:g.31696749G>T	ENSP00000364945:p.Pro64Thr		A2BEZ7	Missense_Mutation	SNP	pfam_Amidino_trans	p.P64T	ENST00000375789.2	37	c.190	CCDS4718.1	6	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835599	0.71373	.	.	ENSG00000213722	ENST00000375789;ENST00000375787;ENST00000375792;ENST00000416410;ENST00000436437	.	.	.	5.11	5.11	0.69529	.	0.055905	0.64402	D	0.000001	T	0.73916	0.3648	M	0.83774	2.66	0.58432	D	0.99999	D	0.56521	0.976	P	0.60789	0.879	T	0.76046	-0.3102	8	.	.	.	1.0E-4	16.0828	0.81017	0.0:0.0:1.0:0.0	.	64	O95865	DDAH2_HUMAN	T	64	.	.	P	-	1	0	DDAH2	31804728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.644000	0.61397	2.646000	0.89796	0.655000	0.94253	CCA	-	DDAH2	-	NULL		0.647	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH2	HGNC	protein_coding	OTTHUMT00000076432.2	0	0		31	31		0.00		G			31696749	-1	4		40		tier1	no_errors	ENST00000375787	ensembl	human	known	74_37	missense	9.09		SNP	1.000	T	4	40
AOC1	26	genome.wustl.edu	37	7	150554585	150554585	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150554585G>A	ENST00000493429.1	+	4	1611	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	AOC1_ENST00000416793.2_Missense_Mutation_p.G343R|AOC1_ENST00000467291.1_Missense_Mutation_p.G343R|AOC1_ENST00000360937.4_Missense_Mutation_p.G343R			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	343					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GCACTTCGGCGGAGAGCGCAT	0.632													ENSG00000002726																																					0													57.0	58.0	58.0					7																	150554585		2203	4300	6503	SO:0001583	missense	0			-	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1027G>A	7.37:g.150554585G>A	ENSP00000418614:p.Gly343Arg		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.G343R	ENST00000493429.1	37	c.1027	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338599	0.41398	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	4.96	2.13	0.27403	Copper amine oxidase, C-terminal (3);	0.172250	0.50627	D	0.000110	T	0.20700	0.0498	M	0.90595	3.13	0.42403	D	0.99257	D;B	0.89917	1.0;0.293	D;B	0.72625	0.978;0.135	T	0.00395	-1.1766	10	0.87932	D	0	-19.1735	5.8987	0.18953	0.1685:0.0:0.6686:0.1629	.	343;343	C9J690;P19801	.;ABP1_HUMAN	R	343;343;343;343;219	ENSP00000418614:G343R;ENSP00000418328:G343R;ENSP00000354193:G343R;ENSP00000411613:G343R	ENSP00000354193:G343R	G	+	1	0	ABP1	150185518	1.000000	0.71417	0.004000	0.12327	0.161000	0.22273	3.577000	0.53885	0.353000	0.24079	0.561000	0.74099	GGA	-	AOC1	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase		0.632	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	HGNC	protein_coding	OTTHUMT00000350628.1	0	0		38	38		0.00		G	NM_001091		150554585	+1	12		49		tier1	no_errors	ENST00000416793	ensembl	human	known	74_37	missense	19.67		SNP	0.698	A	12	49
MEF2B	100271849	genome.wustl.edu	37	19	19257880	19257880	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:19257880G>A	ENST00000602424.2	-	7	1232	c.506C>T	c.(505-507)cCc>cTc	p.P169L	MEF2B_ENST00000409447.2_Missense_Mutation_p.P169L|MEF2B_ENST00000162023.5_Missense_Mutation_p.P169L|MEF2B_ENST00000410050.1_Missense_Mutation_p.P169L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P169L|MEF2B_ENST00000409224.1_Missense_Mutation_p.P172L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P186L|MEF2B_ENST00000424583.2_Missense_Mutation_p.P169L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	169					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TGGTCGGAAGGGAGATGGGCG	0.672													ENSG00000213999																																					0													17.0	19.0	18.0					19																	19257880		2201	4297	6498	SO:0001583	missense	0			-	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.506C>T	19.37:g.19257880G>A	ENSP00000473308:p.Pro169Leu		A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.P169L	ENST00000602424.2	37	c.506	CCDS12394.1	19	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681752	0.47991	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000409447;ENST00000162023	D;D;D;D;D	0.87729	-2.19;-2.15;-2.19;-2.29;-2.15	5.33	4.27	0.50696	.	0.807299	0.10908	N	0.620936	D	0.87265	0.6134	L	0.27053	0.805	0.42504	D	0.99294	P;D;D;D;P	0.64830	0.915;0.994;0.982;0.97;0.842	B;P;P;P;B	0.59889	0.371;0.865;0.637;0.641;0.254	T	0.82950	-0.0203	10	0.46703	T	0.11	-14.7767	10.9465	0.47304	0.0:0.0:0.8051:0.1949	.	169;216;169;169;172	Q02080;B8ZZJ5;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.;.	L	172;169;169;169;216;169	ENSP00000386480:P172L;ENSP00000402154:P169L;ENSP00000386374:P169L;ENSP00000390762:P169L;ENSP00000162023:P169L	ENSP00000162023:P169L	P	-	2	0	MEF2B	19118880	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.901000	0.28445	1.190000	0.43042	0.561000	0.74099	CCC	-	MEF2B	-	NULL		0.672	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2B	HGNC	protein_coding		0	0		33	33		0.00		G	NM_005919		19257880	-1	7		28		tier1	no_errors	ENST00000162023	ensembl	human	known	74_37	missense	20.00		SNP	1.000	A	7	28
ACTN4	81	genome.wustl.edu	37	19	39218571	39218571	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39218571G>A	ENST00000252699.2	+	19	2413				ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4						actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCTGCCTTCGGATGGCCCCG	0.672													ENSG00000130402																									Colon(168;199 1940 10254 46213 46384)												0													17.0	17.0	17.0					19																	39218571		2203	4290	6493	SO:0001627	intron_variant	0			-	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2338-15G>A	19.37:g.39218571G>A			A4K467|D6PXK4|O76048	R	SNP	-	NULL	ENST00000252699.2	37	NULL	CCDS12518.1	19																																																																																			-	ACTN4	-	-		0.672	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	0	0		75	75		0.00		G			39218571	+1	14		65		tier1	no_errors	ENST00000497637	ensembl	human	putative	74_37	rna	17.72		SNP	0.910	A	14	65
ZNF17	7565	genome.wustl.edu	37	19	57932771	57932771	+	Silent	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57932771T>G	ENST00000601808.1	+	3	2124	c.1911T>G	c.(1909-1911)ccT>ccG	p.P637P	ZNF17_ENST00000307658.7_Silent_p.P639P|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAGAGAGACCTTATCAGTGCA	0.388													ENSG00000186272																									Melanoma(149;1637 1853 29914 42869 44988)												0													51.0	55.0	54.0					19																	57932771		2186	4294	6480	SO:0001819	synonymous_variant	0			-	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1911T>G	19.37:g.57932771T>G			B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	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.P637	ENST00000601808.1	37	c.1911	CCDS42636.1	19																																																																																			-	ZNF17	-	pfscan_Znf_C2H2		0.388	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	0	0		62	62		0.00		T	NM_006959		57932771	+1	24		50		tier1	no_errors	ENST00000601808	ensembl	human	known	74_37	silent	32.43		SNP	0.000	G	24	50
SRBD1	55133	genome.wustl.edu	37	2	45780861	45780861	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:45780861G>C	ENST00000263736.4	-	11	1480	c.1418C>G	c.(1417-1419)cCa>cGa	p.P473R	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	473					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAGCTACGTGGTCTCCACCT	0.388													ENSG00000068784																																					0													54.0	58.0	57.0					2																	45780861		2203	4300	6503	SO:0001583	missense	0			-	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1418C>G	2.37:g.45780861G>C	ENSP00000263736:p.Pro473Arg		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_R-bd_dom,superfamily_-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_R-binding_domain_S1,pfscan_Rbsml_prot_S1_R-bd_dom	p.P473R	ENST00000263736.4	37	c.1418	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705109	0.68615	.	.	ENSG00000068784	ENST00000263736	T	0.41065	1.01	5.71	5.71	0.89125	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	N	0.25890	0.77	0.80722	D	1	D	0.53619	0.961	P	0.52758	0.708	T	0.14200	-1.0481	10	0.27082	T	0.32	.	19.8513	0.96741	0.0:0.0:1.0:0.0	.	473	Q8N5C6	SRBD1_HUMAN	R	473	ENSP00000263736:P473R	ENSP00000263736:P473R	P	-	2	0	SRBD1	45634365	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.203000	0.77864	2.694000	0.91930	0.585000	0.79938	CCA	-	SRBD1	-	NULL		0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	0	0		56	56		0.00		G	NM_018079		45780861	-1	16		73		tier1	no_errors	ENST00000263736	ensembl	human	known	74_37	missense	17.98		SNP	1.000	C	16	73
C19orf44	84167	genome.wustl.edu	37	19	16612275	16612275	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:16612275C>T	ENST00000221671.3	+	2	828	c.672C>T	c.(670-672)agC>agT	p.S224S	C19orf44_ENST00000594035.1_Silent_p.S224S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	224										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGCTAGGAAGCTTGATGGACT	0.408													ENSG00000105072																																					0													70.0	75.0	73.0					19																	16612275		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.672C>T	19.37:g.16612275C>T			Q8N6Y7	Silent	SNP	NULL	p.S224	ENST00000221671.3	37	c.672	CCDS12345.1	19																																																																																			-	C19orf44	-	NULL		0.408	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	HGNC	protein_coding	OTTHUMT00000461218.1	0	0		76	76		0.00		C	NM_032207		16612275	+1	23		71		tier1	no_errors	ENST00000221671	ensembl	human	known	74_37	silent	24.47		SNP	0.771	T	23	71
DPYSL4	10570	genome.wustl.edu	37	10	134012440	134012440	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:134012440G>A	ENST00000338492.4	+	8	940	c.776G>A	c.(775-777)gGg>gAg	p.G259E	DPYSL4_ENST00000368627.1_Missense_Mutation_p.G159E|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G159E	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	259					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATGAGCAAGGGGGCGGCCGAC	0.672													ENSG00000151640																																					0													80.0	65.0	70.0					10																	134012440		2202	4300	6502	SO:0001583	missense	0			-	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.776G>A	10.37:g.134012440G>A	ENSP00000339850:p.Gly259Glu		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G259E	ENST00000338492.4	37	c.776	CCDS7665.1	10	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685135	0.29872	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.88586	-2.4;-2.4;-2.4	3.94	0.888	0.19206	Amidohydrolase 1 (1);	0.364758	0.28470	N	0.015222	D	0.82870	0.5131	N	0.13003	0.285	0.36667	D	0.878284	D	0.54207	0.965	P	0.53722	0.733	T	0.80630	-0.1297	10	0.31617	T	0.26	-12.4378	9.3147	0.37926	0.082:0.2869:0.6311:0.0	.	259	O14531	DPYL4_HUMAN	E	259;159;159	ENSP00000339850:G259E;ENSP00000357618:G159E;ENSP00000357616:G159E	ENSP00000339850:G259E	G	+	2	0	DPYSL4	133862430	0.009000	0.17119	0.496000	0.27539	0.314000	0.28054	1.433000	0.34947	0.399000	0.25367	0.555000	0.69702	GGG	-	DPYSL4	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase		0.672	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL4	HGNC	protein_coding	OTTHUMT00000051050.2	0	0		23	23		0.00		G			134012440	+1	15		30		tier1	no_errors	ENST00000338492	ensembl	human	known	74_37	missense	33.33		SNP	0.963	A	15	30
CROT	54677	genome.wustl.edu	37	7	86998740	86998740	+	Missense_Mutation	SNP	G	G	C	rs201693830		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:86998740G>C	ENST00000331536.3	+	7	781	c.596G>C	c.(595-597)cGa>cCa	p.R199P	CROT_ENST00000419147.2_Missense_Mutation_p.R227P|CROT_ENST00000442291.1_Missense_Mutation_p.R199P	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	199					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGTCGAGGCCGAGCTTTTGTC	0.438													ENSG00000005469																																					0													224.0	208.0	214.0					7																	86998740		2203	4300	6503	SO:0001583	missense	0			-		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.596G>C	7.37:g.86998740G>C	ENSP00000331981:p.Arg199Pro		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R199P	ENST00000331536.3	37	c.596	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017209	0.93404	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89810	-2.57;-2.57;-2.57	5.11	5.11	0.69529	.	0.113216	0.56097	D	0.000025	D	0.96119	0.8735	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.982;0.996	D	0.96651	0.9481	10	0.72032	D	0.01	-14.452	19.0941	0.93242	0.0:0.0:1.0:0.0	.	227;199	E7EQF2;Q9UKG9	.;OCTC_HUMAN	P	227;199;199	ENSP00000413575:R227P;ENSP00000331981:R199P;ENSP00000411983:R199P	ENSP00000331981:R199P	R	+	2	0	CROT	86836676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.640000	0.91028	2.807000	0.96579	0.591000	0.81541	CGA	-	CROT	-	pfam_Carn_acyl_trans		0.438	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	0	0		110	110		0.00		G	NM_021151		86998740	+1	46		104		tier1	no_errors	ENST00000331536	ensembl	human	known	74_37	missense	30.46		SNP	1.000	C	46	104
VWA5B2	90113	genome.wustl.edu	37	3	183954435	183954435	+	Silent	SNP	C	C	G	rs570055843		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183954435C>G	ENST00000426955.2	+	10	1531	c.1431C>G	c.(1429-1431)tcC>tcG	p.S477S	VWA5B2_ENST00000273794.5_Silent_p.S258S|EIF2B5_ENST00000444495.1_Intron	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	488	VWFA.									breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						GATGCTTCTCCTTTGGGCTGG	0.607													ENSG00000145198																																					0													86.0	77.0	79.0					3																	183954435		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.1431C>G	3.37:g.183954435C>G			B9EGN7	Silent	SNP	NULL	p.S477	ENST00000426955.2	37	c.1431	CCDS54686.1	3																																																																																			-	VWA5B2	-	NULL		0.607	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	0	0		45	45		0.00		C	XM_291077		183954435	+1	21		37		tier1	no_errors	ENST00000426955	ensembl	human	known	74_37	silent	36.21		SNP	1.000	G	21	37
NUP205	23165	genome.wustl.edu	37	7	135309966	135309966	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:135309966T>C	ENST00000285968.6	+	32	4560	c.4534T>C	c.(4534-4536)Tgg>Cgg	p.W1512R		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1512					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)|nuclear pore complex assembly (GO:0051292)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACAGCAGCAGTGGCTTTTGTA	0.453													ENSG00000155561																																					0													159.0	143.0	148.0					7																	135309966		2203	4300	6503	SO:0001583	missense	0			-	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4534T>C	7.37:g.135309966T>C	ENSP00000285968:p.Trp1512Arg		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_Nup186/Nup192/Nup205	p.W1512R	ENST00000285968.6	37	c.4534	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548351	0.86127	.	.	ENSG00000155561	ENST00000285968	T	0.30714	1.52	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.49688	-0.8913	10	0.26408	T	0.33	-25.3168	15.9704	0.80013	0.0:0.0:0.0:1.0	.	1512	Q92621	NU205_HUMAN	R	1512	ENSP00000285968:W1512R	ENSP00000285968:W1512R	W	+	1	0	NUP205	134960506	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.928000	0.87587	2.165000	0.68154	0.460000	0.39030	TGG	-	NUP205	-	pfam_Nup186/Nup192/Nup205		0.453	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	0	0		124	124		0.00		T			135309966	+1	49		101		tier1	no_errors	ENST00000285968	ensembl	human	known	74_37	missense	32.67		SNP	1.000	C	49	101
CPNE4	131034	genome.wustl.edu	37	3	131261456	131261456	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:131261456C>T	ENST00000512055.1	-	19	3610	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	CPNE4_ENST00000429747.1_Missense_Mutation_p.G495E|CPNE4_ENST00000512332.1_Missense_Mutation_p.G513E|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495E|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513E			Q96A23	CPNE4_HUMAN	copine IV	495	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACAGGCTCTCCCTTGGGTGA	0.517													ENSG00000196353																																					0													161.0	139.0	147.0					3																	131261456		2203	4300	6503	SO:0001583	missense	0			-	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1484G>A	3.37:g.131261456C>T	ENSP00000421705:p.Gly495Glu		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.G513E	ENST00000512055.1	37	c.1538	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.290909	0.95546	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	H	0.96943	3.91	0.80722	D	1	D;D	0.65815	0.972;0.995	P;P	0.60068	0.868;0.831	T	0.77988	-0.2380	10	0.87932	D	0	-12.4331	19.5825	0.95473	0.0:1.0:0.0:0.0	.	513;495	Q96A23-2;Q96A23	.;CPNE4_HUMAN	E	495;495;513;495;513	ENSP00000421705:G495E;ENSP00000411904:G495E;ENSP00000424853:G513E;ENSP00000423811:G495E;ENSP00000421646:G513E	ENSP00000411904:G495E	G	-	2	0	CPNE4	132744146	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.624000	0.88883	0.655000	0.94253	GGA	-	CPNE4	-	smart_VWF_A		0.517	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	0	0		51	51		0.00		C	NM_130808		131261456	-1	33		51		tier1	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	39.29		SNP	1.000	T	33	51
LAD1	3898	genome.wustl.edu	37	1	201356225	201356225	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:201356225G>A	ENST00000391967.2	-	3	565	c.264C>T	c.(262-264)atC>atT	p.I88I	LAD1_ENST00000367313.3_Silent_p.I102I	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	88						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GTGTTCTGAGGATGCTCTGGA	0.627													ENSG00000159166																																					0													41.0	40.0	40.0					1																	201356225		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.264C>T	1.37:g.201356225G>A			O95614|Q96GD8	Silent	SNP	pirsf_Ladinin_1	p.I102	ENST00000391967.2	37	c.306	CCDS1410.1	1																																																																																			-	LAD1	-	pirsf_Ladinin_1		0.627	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	HGNC	protein_coding	OTTHUMT00000086946.1	0	0		26	26		0.00		G	NM_005558		201356225	-1	11		27		tier1	no_errors	ENST00000367313	ensembl	human	known	74_37	silent	28.95		SNP	0.976	A	11	27
EPPK1	83481	genome.wustl.edu	37	8	144946875	144946875	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144946875C>T	ENST00000525985.1	-	2	618	c.547G>A	c.(547-549)Gag>Aag	p.E183K				P58107	EPIPL_HUMAN	epiplakin 1	183						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)			TGCCATGTCTCCCGGTCCAGG	0.677													ENSG00000227184																																					0													16.0	20.0	18.0					8																	144946875		2066	4190	6256	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.547G>A	8.37:g.144946875C>T	ENSP00000436337:p.Glu183Lys		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E183K	ENST00000525985.1	37	c.547		8	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450472	0.43531	.	.	ENSG00000227184	ENST00000525985	T	0.76578	-1.03	4.14	3.25	0.37280	.	.	.	.	.	T	0.56934	0.2019	N	0.08118	0	0.09310	N	1	B	0.21071	0.051	B	0.26517	0.07	T	0.45963	-0.9225	9	0.26408	T	0.33	.	6.4757	0.22034	0.0:0.7786:0.0:0.2214	.	183	E9PPU0	.	K	183	ENSP00000436337:E183K	ENSP00000436337:E183K	E	-	1	0	EPPK1	145018863	0.548000	0.26473	0.990000	0.47175	0.379000	0.30106	2.291000	0.43540	1.076000	0.40961	0.407000	0.27541	GAG	-	EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	0	0		14	14		0.00		C	NM_031308		144946875	-1	6		16		tier1	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	27.27		SNP	0.027	T	6	16
MORN1	79906	genome.wustl.edu	37	1	2282809	2282809	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:2282809C>T	ENST00000378531.3	-	10	1210				RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1											breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGCGAGGGTCCCTGGGCTCCT	0.632													ENSG00000269896																																					0																																										SO:0001627	intron_variant	0			-	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1036+6061G>A	1.37:g.2282809C>T			A6NKZ6|Q8WW30|Q9H852	R	SNP	-	NULL	ENST00000378531.3	37	NULL	CCDS40.1	1																																																																																			-	RP4-740C4.6	-	-		0.632	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100129534	Clone_based_vega_gene	protein_coding	OTTHUMT00000004055.1	0	0		47	47		0.00		C	NM_024848		2282809	-1	8		38		tier1	no_errors	ENST00000602865	ensembl	human	known	74_37	rna	17.39		SNP	0.000	T	8	38
LCE1D	353134	genome.wustl.edu	37	1	152770602	152770602	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152770602G>A	ENST00000326233.6	+	2	375	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	111	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	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)			CAGCACTCTGGAGGCTGCTGC	0.612													ENSG00000172155																																					0													39.0	36.0	37.0					1																	152770602		2025	3753	5778	SO:0001583	missense	0			-		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.332G>A	1.37:g.152770602G>A	ENSP00000316737:p.Gly111Glu			Missense_Mutation	SNP	NULL	p.G111E	ENST00000326233.6	37	c.332	CCDS1025.1	1	.	.	.	.	.	.	.	.	.	.	G	9.832	1.188604	0.21954	.	.	ENSG00000172155	ENST00000326233	T	0.05025	3.51	4.69	3.5	0.40072	.	0.500463	0.15021	N	0.284984	T	0.03348	0.0097	M	0.72118	2.19	0.26159	N	0.98002	B	0.24576	0.106	B	0.23150	0.044	T	0.23084	-1.0198	10	0.87932	D	0	.	5.8098	0.18460	0.18:0.0:0.82:0.0	.	111	Q5T752	LCE1D_HUMAN	E	111	ENSP00000316737:G111E	ENSP00000316737:G111E	G	+	2	0	LCE1D	151037226	0.999000	0.42202	0.991000	0.47740	0.708000	0.40852	2.084000	0.41625	2.307000	0.77673	0.555000	0.69702	GGA	-	LCE1D	-	NULL		0.612	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1D	HGNC	protein_coding	OTTHUMT00000034657.2	0	0		87	87		0.00		G	NM_178352		152770602	+1	13		98		tier1	no_errors	ENST00000326233	ensembl	human	known	74_37	missense	11.71		SNP	0.991	A	13	98
PDGFRA	5156	genome.wustl.edu	37	4	55138666	55138666	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:55138666T>G	ENST00000257290.5	+	9	1674	c.1343T>G	c.(1342-1344)aTg>aGg	p.M448R	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	448	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATTGAGTGGATGATATGCAAA	0.433			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			ENSG00000134853																									Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0													145.0	135.0	138.0					4																	55138666		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	-	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1343T>G	4.37:g.55138666T>G	ENSP00000257290:p.Met448Arg		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.M448R	ENST00000257290.5	37	c.1343	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192270	0.21954	.	.	ENSG00000134853	ENST00000257290	T	0.74947	-0.89	6.17	4.97	0.65823	Immunoglobulin-like fold (1);	0.000000	0.38605	U	0.001635	T	0.60011	0.2236	L	0.29908	0.895	0.80722	D	1	B;P	0.35982	0.01;0.531	B;B	0.25987	0.022;0.065	T	0.60677	-0.7216	10	0.51188	T	0.08	.	12.7809	0.57476	0.1228:0.0:0.0:0.8771	.	448;448	P16234-3;P16234	.;PGFRA_HUMAN	R	448	ENSP00000257290:M448R	ENSP00000257290:M448R	M	+	2	0	PDGFRA	54833423	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	3.843000	0.55865	1.105000	0.41606	0.533000	0.62120	ATG	-	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.433	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	0	0		35	35		0.00		T	NM_006206		55138666	+1	14		40		tier1	no_errors	ENST00000257290	ensembl	human	known	74_37	missense	25.93		SNP	0.999	G	14	40
GPAA1	8733	genome.wustl.edu	37	8	145140974	145140974	+	Silent	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145140974C>A	ENST00000355091.4	+	12	1933	c.1812C>A	c.(1810-1812)tcC>tcA	p.S604S	GPAA1_ENST00000361036.6_Silent_p.S544S	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	604					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)			CACTGCTGTCCCTGGGCCTCT	0.632													ENSG00000197858																																					0													52.0	57.0	55.0					8																	145140974		2012	4177	6189	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.1812C>A	8.37:g.145140974C>A			Q9NSS0|Q9UQ31	Silent	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.S604	ENST00000355091.4	37	c.1812	CCDS43776.1	8																																																																																			-	GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.632	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	0	0		25	25		0.00		C	NM_003801		145140974	+1	15		14		tier1	no_errors	ENST00000355091	ensembl	human	known	74_37	silent	51.72		SNP	0.786	A	15	14
BCAR3	8412	genome.wustl.edu	37	1	94033401	94033401	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:94033401C>T	ENST00000370244.1	-	12	2270	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K	BCAR3_ENST00000539242.1_Missense_Mutation_p.R337K|BCAR3_ENST00000370247.3_Missense_Mutation_p.R570K|BCAR3_ENST00000260502.6_Missense_Mutation_p.R661K|BCAR3_ENST00000370243.1_Missense_Mutation_p.R661K	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	661	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTTTTCTAACCTTGTGATCTG	0.473													ENSG00000137936																																					0													99.0	99.0	99.0					1																	94033401		2203	4300	6503	SO:0001583	missense	0			-	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1982G>A	1.37:g.94033401C>T	ENSP00000359264:p.Arg661Lys		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.R661K	ENST00000370244.1	37	c.1982	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.336916	0.95758	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.39	5.39	0.77823	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.991	D;D	0.78314	0.991;0.984	T	0.70146	-0.4952	10	0.33141	T	0.24	-29.3404	19.1489	0.93479	0.0:1.0:0.0:0.0	.	661;570	O75815;Q5TEW3	BCAR3_HUMAN;.	K	570;661;661;661;337	ENSP00000359267:R570K;ENSP00000260502:R661K;ENSP00000359264:R661K;ENSP00000359263:R661K;ENSP00000441343:R337K	ENSP00000260502:R661K	R	-	2	0	BCAR3	93805989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.452000	0.80683	2.517000	0.84864	0.561000	0.74099	AGG	-	BCAR3	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.473	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	0	0		48	48		0.00		C			94033401	-1	8		53		tier1	no_errors	ENST00000260502	ensembl	human	known	74_37	missense	13.11		SNP	1.000	T	8	53
UNKL	64718	genome.wustl.edu	37	16	1435326	1435326	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:1435326C>T	ENST00000389221.4	-	10	1137	c.1138G>A	c.(1138-1140)Gcg>Acg	p.A380T	UNKL_ENST00000508903.2_Missense_Mutation_p.A383T|UNKL_ENST00000397462.1_Missense_Mutation_p.A582T	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	380	Ser-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				aggctggacgccacgctggag	0.741													ENSG00000059145																																					0																																										SO:0001583	missense	0			-	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1138G>A	16.37:g.1435326C>T	ENSP00000373873:p.Ala380Thr		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A582T	ENST00000389221.4	37	c.1744	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	C	6.764	0.509842	0.12883	.	.	ENSG00000059145	ENST00000389221;ENST00000508903;ENST00000397462	T	0.61980	0.06	3.55	2.11	0.27256	.	0.116352	0.56097	N	0.000024	T	0.24084	0.0583	N	0.01242	-0.935	0.20873	N	0.999837	B	0.14012	0.009	B	0.06405	0.002	T	0.19063	-1.0317	10	0.11182	T	0.66	.	4.3302	0.11060	0.0:0.5669:0.0:0.4331	.	380	Q9H9P5	UNKL_HUMAN	T	380;383;582	ENSP00000373873:A380T	ENSP00000373873:A380T	A	-	1	0	UNKL	1375327	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	1.732000	0.38146	0.754000	0.32968	0.505000	0.49811	GCG	-	UNKL	-	NULL		0.741	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		0	0		54	54		0.00		C	NM_001037125		1435326	-1	33		67		tier1	no_errors	ENST00000397462	ensembl	human	known	74_37	missense	33.00		SNP	1.000	T	33	67
SLC16A4	9122	genome.wustl.edu	37	1	110918101	110918101	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:110918101G>A	ENST00000369779.4	-	8	1564	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F	SLC16A4_ENST00000541986.1_Missense_Mutation_p.L377F|RP5-1074L1.4_ENST00000609909.1_RNA|SLC16A4_ENST00000437429.2_Missense_Mutation_p.L329F|SLC16A4_ENST00000472422.2_Missense_Mutation_p.L391F|SLC16A4_ENST00000369781.4_Missense_Mutation_p.L271F	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	439					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GGTCCAGAAAGGACAGCCATC	0.398													ENSG00000168679																																					0													90.0	90.0	90.0					1																	110918101		2203	4300	6503	SO:0001583	missense	0			-	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1315C>T	1.37:g.110918101G>A	ENSP00000358794:p.Leu439Phe		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L439F	ENST00000369779.4	37	c.1315	CCDS823.1	1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516945	0.44763	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781;ENST00000437429;ENST00000541986;ENST00000467986	T;T;T;T;T;T	0.80566	-1.39;-1.39;0.21;-1.39;-1.39;-1.39	5.91	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.186003	0.48767	D	0.000178	D	0.84388	0.5461	M	0.70595	2.14	0.36474	D	0.867416	D;D;D;D;D;D	0.89917	0.999;1.0;0.997;0.995;0.984;0.999	D;D;D;D;P;D	0.78314	0.974;0.991;0.94;0.955;0.865;0.985	D	0.85794	0.1369	10	0.66056	D	0.02	.	8.8276	0.35065	0.0:0.1394:0.6068:0.2539	.	329;377;391;439;271;439	E7EPY8;B4DJ67;G3V175;Q53FH9;Q8WU09;O15374	.;.;.;.;.;MOT5_HUMAN	F	439;391;271;329;377;206	ENSP00000358794:L439F;ENSP00000432495:L391F;ENSP00000358796:L271F;ENSP00000394790:L329F;ENSP00000446087:L377F;ENSP00000435768:L206F	ENSP00000358794:L439F	L	-	1	0	SLC16A4	110719624	0.998000	0.40836	0.992000	0.48379	0.993000	0.82548	2.147000	0.42226	2.798000	0.96311	0.655000	0.94253	CTT	-	SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	0	0		91	91		0.00		G	NM_004696		110918101	-1	25		95		tier1	no_errors	ENST00000369779	ensembl	human	known	74_37	missense	20.83		SNP	0.868	A	25	95
NACA	4666	genome.wustl.edu	37	12	57113564	57113564	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57113564G>A	ENST00000454682.1	-	3	2031	c.1750C>T	c.(1750-1752)Ctt>Ttt	p.L584F	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.L584F|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	584	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCAGGAGAAAGAGGTATCTCT	0.502			T	BCL6	NHL								ENSG00000196531																												Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													53.0	53.0	53.0					12																	57113564		1568	3582	5150	SO:0001583	missense	0			-	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1750C>T	12.37:g.57113564G>A	ENSP00000403817:p.Leu584Phe			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.L584F	ENST00000454682.1	37	c.1750		12	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041267	0.35989	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.52754	0.65;0.73	2.6	2.6	0.31112	.	.	.	.	.	T	0.44030	0.1274	N	0.08118	0	0.09310	N	1	D;D	0.69078	0.997;0.995	D;D	0.66351	0.921;0.943	T	0.27536	-1.0071	9	0.72032	D	0.01	.	8.9819	0.35970	0.0:0.0:1.0:0.0	.	584;584	E9PAV3;F8VU71	.;.	F	584	ENSP00000403817:L584F;ENSP00000448035:L584F	ENSP00000403817:L584F	L	-	1	0	NACA	55399831	0.148000	0.22702	0.470000	0.27216	0.266000	0.26442	1.631000	0.37092	1.194000	0.43101	0.449000	0.29647	CTT	-	CA	-	NULL		0.502	NACA-201	KNOWN	basic	protein_coding	CA	HGNC	protein_coding		0	0		83	83		0.00		G	NM_005594		57113564	-1	33		38		tier1	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	46.48		SNP	0.185	A	33	38
NR1H4	9971	genome.wustl.edu	37	12	100934550	100934550	+	Silent	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:100934550T>G	ENST00000551379.1	+	7	1090	c.1062T>G	c.(1060-1062)ctT>ctG	p.L354L	NR1H4_ENST00000188403.7_Silent_p.L350L|NR1H4_ENST00000548884.1_Silent_p.L340L|NR1H4_ENST00000549996.1_Silent_p.L293L|NR1H4_ENST00000392986.3_Silent_p.L344L			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	354	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	ATAAGAAACTTCCGTCTGGGC	0.398													ENSG00000012504																																					0													162.0	155.0	157.0					12																	100934550		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1062T>G	12.37:g.100934550T>G			A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.L354	ENST00000551379.1	37	c.1062	CCDS55876.1	12																																																																																			-	NR1H4	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.398	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	0	0		77	77		0.00		T	NM_005123		100934550	+1	14		66		tier1	no_errors	ENST00000551379	ensembl	human	known	74_37	silent	17.50		SNP	1.000	G	14	66
DPYD	1806	genome.wustl.edu	37	1	97547995	97547995	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:97547995C>T	ENST00000370192.3	-	22	2898	c.2798G>A	c.(2797-2799)gGa>gAa	p.G933E		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	933					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACCAAATGTTCCAAGGTACTG	0.338													ENSG00000188641																																					0													215.0	200.0	205.0					1																	97547995		2203	4299	6502	SO:0001583	missense	0			-	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2798G>A	1.37:g.97547995C>T	ENSP00000359211:p.Gly933Glu		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_tR_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.G933E	ENST00000370192.3	37	c.2798	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181437	0.57800	.	.	ENSG00000188641	ENST00000370192	D	0.90197	-2.63	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94440	0.7657	10	0.87932	D	0	-17.3306	20.0954	0.97838	0.0:1.0:0.0:0.0	.	933	Q12882	DPYD_HUMAN	E	933	ENSP00000359211:G933E	ENSP00000359211:G933E	G	-	2	0	DPYD	97320583	1.000000	0.71417	0.929000	0.37066	0.026000	0.11368	6.889000	0.75627	2.746000	0.94184	0.655000	0.94253	GGA	-	DPYD	-	NULL		0.338	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	0	0		45	45		0.00		C	NM_000110		97547995	-1	19		37		tier1	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	33.93		SNP	0.999	T	19	37
UCP3	7352	genome.wustl.edu	37	11	73717404	73717404	+	Silent	SNP	C	C	T	rs201580635		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:73717404C>T	ENST00000314032.4	-	3	699	c.147G>A	c.(145-147)gcG>gcA	p.A49A	UCP3_ENST00000426995.2_Silent_p.A49A|UCP3_ENST00000348534.4_Silent_p.A49A	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	49					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CCGTCTGGACCGCCTGGTTCT	0.657													ENSG00000175564																																					0													16.0	17.0	16.0					11																	73717404		2200	4289	6489	SO:0001819	synonymous_variant	0			-	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.147G>A	11.37:g.73717404C>T			O60475|Q96HL3	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.A49	ENST00000314032.4	37	c.147	CCDS8229.1	11																																																																																			rs201580635	UCP3	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.657	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	HGNC	protein_coding	OTTHUMT00000398200.1	0	0		24	24		0.00		C	NM_003356		73717404	-1	12		33		tier1	no_errors	ENST00000314032	ensembl	human	known	74_37	silent	26.67		SNP	0.000	T	12	33
NLRP11	204801	genome.wustl.edu	37	19	56320365	56320365	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:56320365T>A	ENST00000589093.1	-	3	1704	c.1611A>T	c.(1609-1611)gaA>gaT	p.E537D	NLRP11_ENST00000360133.3_Missense_Mutation_p.E537D|NLRP11_ENST00000589824.2_Missense_Mutation_p.E537D|NLRP11_ENST00000443188.1_Missense_Mutation_p.E537D|NLRP11_ENST00000592953.1_Missense_Mutation_p.E438D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	537							ATP binding (GO:0005524)|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)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCGTCAACTTTTCCGGGTCAC	0.443													ENSG00000179873																																					0													164.0	153.0	157.0					19																	56320365		2203	4300	6503	SO:0001583	missense	0			-	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1611A>T	19.37:g.56320365T>A	ENSP00000466285:p.Glu537Asp		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.E537D	ENST00000589093.1	37	c.1611	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	T	3.195	-0.164867	0.06502	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.75260	-0.92;-0.83	1.99	-1.65	0.08291	.	.	.	.	.	T	0.48259	0.1490	N	0.14661	0.345	0.09310	N	1	B;B	0.33345	0.286;0.409	B;B	0.32624	0.104;0.149	T	0.35425	-0.9789	9	0.16896	T	0.51	.	3.145	0.06468	0.0:0.3372:0.2818:0.381	.	537;537	P59045;P59045-2	NAL11_HUMAN;.	D	537	ENSP00000409898:E537D;ENSP00000353251:E537D	ENSP00000353251:E537D	E	-	3	2	NLRP11	61012177	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.761000	0.00786	-0.541000	0.06257	-1.407000	0.01130	GAA	-	NLRP11	-	NULL		0.443	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	0	0		13	13		0.00		T	NM_145007		56320365	-1	8		12		tier1	no_errors	ENST00000443188	ensembl	human	known	74_37	missense	40.00		SNP	0.000	A	8	12
PYGB	5834	genome.wustl.edu	37	20	25252028	25252028	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:25252028T>C	ENST00000216962.4	+	4	544	c.434T>C	c.(433-435)cTt>cCt	p.L145P		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	145					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCGTGTTTCCTTGACTCAATG	0.502													ENSG00000100994																																					0													236.0	216.0	223.0					20																	25252028		2203	4300	6503	SO:0001583	missense	0			-		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.434T>C	20.37:g.25252028T>C	ENSP00000216962:p.Leu145Pro		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.L145P	ENST00000216962.4	37	c.434	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758607	0.69763	.	.	ENSG00000100994	ENST00000216962	D	0.95588	-3.75	4.08	4.08	0.47627	.	0.141502	0.47852	D	0.000219	D	0.98277	0.9429	H	0.98027	4.13	0.80722	D	1	P	0.39624	0.681	P	0.54590	0.756	D	0.99777	1.1026	10	0.87932	D	0	-18.1005	13.1861	0.59682	0.0:0.0:0.0:1.0	.	145	P11216	PYGB_HUMAN	P	145	ENSP00000216962:L145P	ENSP00000216962:L145P	L	+	2	0	PYGB	25200028	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.738000	0.84966	1.830000	0.53286	0.460000	0.39030	CTT	-	PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.502	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	0	0		62	62		0.00		T	NM_002862		25252028	+1	23		68		tier1	no_errors	ENST00000216962	ensembl	human	known	74_37	missense	25.27		SNP	1.000	C	23	68
ZNF471	57573	genome.wustl.edu	37	19	57035875	57035875	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57035875A>T	ENST00000308031.5	+	5	572	c.439A>T	c.(439-441)Atc>Ttc	p.I147F	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAAAGAAATAATCACTCATAA	0.328													ENSG00000196263																									Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													62.0	60.0	61.0					19																	57035875		2203	4300	6503	SO:0001583	missense	0			-	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.439A>T	19.37:g.57035875A>T	ENSP00000309161:p.Ile147Phe		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	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.I147F	ENST00000308031.5	37	c.439	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	A	7.797	0.712812	0.15306	.	.	ENSG00000196263	ENST00000308031	T	0.05717	3.4	4.1	0.644	0.17776	.	.	.	.	.	T	0.05044	0.0135	L	0.45137	1.4	0.09310	N	1	B	0.31125	0.309	B	0.26969	0.075	T	0.39603	-0.9606	9	0.33141	T	0.24	.	4.1412	0.10194	0.3621:0.3513:0.2866:0.0	.	147	Q9BX82	ZN471_HUMAN	F	147	ENSP00000309161:I147F	ENSP00000309161:I147F	I	+	1	0	ZNF471	61727687	0.000000	0.05858	0.150000	0.22450	0.357000	0.29423	-0.489000	0.06490	0.276000	0.22118	0.460000	0.39030	ATC	-	ZNF471	-	NULL		0.328	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	0	0		59	59		0.00		A	NM_020813		57035875	+1	13		47		tier1	no_errors	ENST00000308031	ensembl	human	known	74_37	missense	21.67		SNP	0.000	T	13	47
NRCAM	4897	genome.wustl.edu	37	7	107824989	107824989	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:107824989C>T	ENST00000425651.2	-	18	2104	c.2105G>A	c.(2104-2106)gGa>gAa	p.G702E	NRCAM_ENST00000379028.3_Missense_Mutation_p.G702E|NRCAM_ENST00000351718.4_Missense_Mutation_p.G686E|NRCAM_ENST00000413765.2_Missense_Mutation_p.G683E|NRCAM_ENST00000379024.4_Missense_Mutation_p.G683E|NRCAM_ENST00000379022.4_Missense_Mutation_p.G702E	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	702	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGTCTGTGTTCCAGAAACTTC	0.527													ENSG00000091129																																					0													90.0	86.0	88.0					7																	107824989		2203	4300	6503	SO:0001583	missense	0			-		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2105G>A	7.37:g.107824989C>T	ENSP00000401244:p.Gly702Glu		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	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.G702E	ENST00000425651.2	37	c.2105	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938287	0.92526	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.85859	2.78	0.80722	D	1	D;D;D;D;P	0.64830	0.994;0.986;0.988;0.986;0.924	D;D;D;D;P	0.69479	0.956;0.94;0.964;0.956;0.826	T	0.80002	-0.1565	10	0.72032	D	0.01	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	702;683;683;686;702	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	E	702;702;683;702;686;683;702;702;686	ENSP00000368314:G702E;ENSP00000407858:G683E;ENSP00000325269:G686E;ENSP00000368310:G683E;ENSP00000401244:G702E;ENSP00000368308:G702E	ENSP00000325269:G686E	G	-	2	0	NRCAM	107612225	1.000000	0.71417	0.253000	0.24343	0.970000	0.65996	5.993000	0.70616	2.548000	0.85928	0.591000	0.81541	GGA	-	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	0	0		18	18		0.00		C	NM_001037132		107824989	-1	11		20		tier1	no_errors	ENST00000379028	ensembl	human	known	74_37	missense	35.48		SNP	1.000	T	11	20
CALML3-AS1	100132159	genome.wustl.edu	37	10	5557791	5557791	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:5557791C>T	ENST00000543008.1	-	0	2946				CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA					CALML3 antisense RNA 1																		TCGGCAGTTTCCTGGCCTCTC	0.547													ENSG00000205488																																					0																																												0			-	DA220455, DA770774		10p15.1	2012-12-04			ENSG00000205488	ENSG00000205488		"""Long non-coding RNAs"""	44682	non-coding RNA	RNA, long non-coding							Standard	NR_120497		Approved				OTTHUMG00000168090		10.37:g.5557791C>T				R	SNP	-	NULL	ENST00000543008.1	37	NULL		10																																																																																			-	CALML3-AS1	-	-		0.547	CALML3-AS1-001	KNOWN	basic	antisense	CALML3-AS1	HGNC	antisense	OTTHUMT00000398076.1	0	0		37	37		0.00		C			5557791	-1	10		52		tier1	no_errors	ENST00000543008	ensembl	human	known	74_37	rna	16.13		SNP	0.001	T	10	52
PHB	5245	genome.wustl.edu	37	17	47484201	47484201	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:47484201C>T	ENST00000300408.3	-	6	598	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Intron|RP11-81K2.1_ENST00000576461.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	176					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)	p.G176W(1)		endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			AACTCCTTCCCGAAGGTCAGA	0.562													ENSG00000167085																																					1	Substitution - Missense(1)	lung(1)											68.0	64.0	66.0					17																	47484201		2203	4300	6503	SO:0001583	missense	0			-		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.526G>A	17.37:g.47484201C>T	ENSP00000300408:p.Gly176Arg		B4DY47|Q4VBQ0	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.G176R	ENST00000300408.3	37	c.526	CCDS11548.1	17	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584032	0.65992	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	M	0.67397	2.05	0.80722	D	1	B	0.27229	0.172	B	0.30316	0.114	D	0.92489	0.5999	10	0.62326	D	0.03	.	17.9281	0.88989	0.0:1.0:0.0:0.0	.	176	P35232	PHB_HUMAN	R	176	ENSP00000300408:G176R;ENSP00000393320:G176R;ENSP00000426433:G176R;ENSP00000422182:G176R;ENSP00000407828:G176R	ENSP00000300408:G176R	G	-	1	0	PHB	44839200	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.790000	0.85794	2.523000	0.85059	0.655000	0.94253	GGG	-	PHB	-	pfam_Band_7,smart_Band_7,prints_Prohibitin		0.562	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	HGNC	protein_coding	OTTHUMT00000258826.1	0	0		57	57		0.00		C	NM_002634		47484201	-1	19		40		tier1	no_errors	ENST00000300408	ensembl	human	known	74_37	missense	32.20		SNP	1.000	T	19	40
CYP27A1	1593	genome.wustl.edu	37	2	219677814	219677814	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:219677814G>A	ENST00000258415.4	+	5	1439	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	338					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGCTGGAGTGGACACGGTGCG	0.622													ENSG00000135929																																					0													31.0	33.0	32.0					2																	219677814		2203	4299	6502	SO:0001583	missense	0			-	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1012G>A	2.37:g.219677814G>A	ENSP00000258415:p.Asp338Asn		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D338N	ENST00000258415.4	37	c.1012	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683826	0.88639	.	.	ENSG00000135929	ENST00000258415	T	0.73681	-0.77	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	H	0.96547	3.84	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	D	0.92211	0.5776	10	0.87932	D	0	-36.0313	13.6822	0.62493	0.0755:0.0:0.9245:0.0	.	338	Q02318	CP27A_HUMAN	N	338	ENSP00000258415:D338N	ENSP00000258415:D338N	D	+	1	0	CYP27A1	219386058	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.656000	0.83736	2.832000	0.97577	0.655000	0.94253	GAC	-	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.622	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	0	0		18	18		0.00		G			219677814	+1	14		27		tier1	no_errors	ENST00000258415	ensembl	human	known	74_37	missense	34.15		SNP	1.000	A	14	27
HNF1B	6928	genome.wustl.edu	37	17	36093708	36093708	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:36093708C>T	ENST00000225893.4	-	3	1012	c.651G>A	c.(649-651)ggG>ggA	p.G217G	HNF1B_ENST00000427275.2_Silent_p.G191G|HNF1B_ENST00000560016.1_Silent_p.G217G|HNF1B_ENST00000561193.1_Silent_p.G191G	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	217					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CATCGGACTGCCCAGGCCCAT	0.547													ENSG00000108753																									Colon(71;102 1179 9001 27917 43397)												0													79.0	72.0	74.0					17																	36093708		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.651G>A	17.37:g.36093708C>T			B4DKM3|E0YMJ9	Silent	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G217	ENST00000225893.4	37	c.651	CCDS11324.1	17																																																																																			-	HNF1B	-	NULL		0.547	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1B	HGNC	protein_coding	OTTHUMT00000256807.3	0	0		28	28		0.00		C	NM_000458		36093708	-1	14		35		tier1	no_errors	ENST00000225893	ensembl	human	known	74_37	silent	28.57		SNP	1.000	T	14	35
CD300LG	146894	genome.wustl.edu	37	17	41926258	41926258	+	Missense_Mutation	SNP	C	C	T	rs556684443		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:41926258C>T	ENST00000317310.4	+	2	417	c.376C>T	c.(376-378)Cca>Tca	p.P126S	CD300LG_ENST00000377203.4_Missense_Mutation_p.P126S|CD300LG_ENST00000586233.1_Missense_Mutation_p.P126S|CD300LG_ENST00000293396.8_Missense_Mutation_p.P126S|CD300LG_ENST00000588884.1_Missense_Mutation_p.P126S|CD300LG_ENST00000539718.1_Missense_Mutation_p.P126S	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	126					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTTCGTCTTTCCAGGTAACAG	0.567													ENSG00000161649																																					0													74.0	66.0	68.0					17																	41926258		2203	4300	6503	SO:0001583	missense	0			-	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.376C>T	17.37:g.41926258C>T	ENSP00000321005:p.Pro126Ser		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P126S	ENST00000317310.4	37	c.376	CCDS11470.1	17	.	.	.	.	.	.	.	.	.	.	C	9.038	0.989061	0.18966	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.03772	3.81;3.81;3.81;3.81	4.89	-0.769	0.11009	Immunoglobulin-like fold (1);	0.495817	0.17256	N	0.180978	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B;P;B;B;P;B	0.35872	0.427;0.525;0.0;0.001;0.525;0.314	B;B;B;B;B;B	0.40256	0.324;0.25;0.005;0.005;0.25;0.106	T	0.40590	-0.9555	10	0.59425	D	0.04	.	5.2597	0.15565	0.0:0.4768:0.2657:0.2575	.	126;126;126;126;126;126	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	S	126	ENSP00000321005:P126S;ENSP00000442368:P126S;ENSP00000366408:P126S;ENSP00000293396:P126S	ENSP00000293396:P126S	P	+	1	0	CD300LG	39281784	0.044000	0.20184	0.047000	0.18901	0.002000	0.02628	0.148000	0.16224	-0.025000	0.13918	-2.181000	0.00316	CCA	-	CD300LG	-	NULL		0.567	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	HGNC	protein_coding	OTTHUMT00000457646.1	0	0		18	18		0.00		C	NM_145273		41926258	+1	6		34		tier1	no_errors	ENST00000317310	ensembl	human	known	74_37	missense	15.00		SNP	0.013	T	6	34
ZDHHC8P1	150244	genome.wustl.edu	37	22	23734880	23734880	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:23734880C>T	ENST00000255890.4	-	0	1263									zinc finger, DHHC-type containing 8 pseudogene 1																		GCCCCATCTCCTCTGCTCACT	0.642													ENSG00000133519																																					0																																												0			-			22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23734880C>T				R	SNP	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			-	ZDHHC8P1	-	-		0.642	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	HGNC	pseudogene	OTTHUMT00000319397.1	0	0		85	85		0.00		C	NR_003950		23734880	-1	27		58		tier1	no_errors	ENST00000456279	ensembl	human	known	74_37	rna	31.40		SNP	0.011	T	27	58
MSANTD1	345222	genome.wustl.edu	37	4	3255061	3255061	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:3255061G>A	ENST00000438480.2	+	2	2195	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	MSANTD1_ENST00000507492.1_Missense_Mutation_p.G137R|MSANTD1_ENST00000510580.1_Missense_Mutation_p.G150R	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	150										endometrium(1)|lung(2)	3						CCAGCCGCCGGGGCCCTCCAC	0.652													ENSG00000188981																																					0													59.0	69.0	65.0					4																	3255061		2203	4300	6503	SO:0001583	missense	0			-		CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 44"""	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.448G>A	4.37:g.3255061G>A	ENSP00000411584:p.Gly150Arg		C9J6V0	Missense_Mutation	SNP	NULL	p.G150R	ENST00000438480.2	37	c.448	CCDS47003.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.362879	0.95877	.	.	ENSG00000188981	ENST00000507492;ENST00000438480;ENST00000510580	.	.	.	5.52	5.52	0.82312	.	0.135423	0.49916	D	0.000139	T	0.77212	0.4097	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77278	-0.2647	9	0.54805	T	0.06	.	18.4326	0.90632	0.0:0.0:1.0:0.0	.	150;150	D6RD98;Q6ZTZ1	.;CD044_HUMAN	R	137;150;150	.	ENSP00000411584:G150R	G	+	1	0	C4orf44	3224859	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.803000	0.91915	2.615000	0.88500	0.591000	0.81541	GGG	-	MSANTD1	-	NULL		0.652	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD1	HGNC	protein_coding	OTTHUMT00000370924.1	0	0		57	57		0.00		G	NM_001012982		3255061	+1	33		76		tier1	no_errors	ENST00000438480	ensembl	human	known	74_37	missense	30.28		SNP	1.000	A	33	76
MUC12	10071	genome.wustl.edu	37	7	100635518	100635518	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100635518C>T	ENST00000379442.3	+	5	2103	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	MUC12_ENST00000536621.1_Silent_p.P558P			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	701	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						GCCCAGGCCCCACAGACACAA	0.562													ENSG00000205277																																					0													276.0	304.0	295.0					7																	100635518		692	1591	2283	SO:0001819	synonymous_variant	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.2103C>T	7.37:g.100635518C>T			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA_dom	p.P558	ENST00000379442.3	37	c.1674		7																																																																																			-	MUC12	-	NULL		0.562	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	1	1		247	247		0.40		C	XM_379904		100635518	+1	41		255		tier1	no_errors	ENST00000536621	ensembl	human	known	74_37	silent	13.85		SNP	0.001	T	41	255
MYO16	23026	genome.wustl.edu	37	13	109792911	109792911	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:109792911G>A	ENST00000357550.2	+	31	4326	c.4285G>A	c.(4285-4287)Gag>Aag	p.E1429K	MYO16_ENST00000356711.2_Missense_Mutation_p.E1429K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGACCCCGGGGAGTCCGTGTA	0.736													ENSG00000041515																																					0													4.0	5.0	4.0					13																	109792911		1889	3693	5582	SO:0001583	missense	0			-		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4285G>A	13.37:g.109792911G>A	ENSP00000350160:p.Glu1429Lys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1429K	ENST00000357550.2	37	c.4285	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531739	0.64972	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.70631	-0.5;-0.5	4.32	4.32	0.51571	.	0.381224	0.18311	U	0.145103	T	0.74129	0.3676	M	0.78637	2.42	0.80722	D	1	P	0.48694	0.914	B	0.44044	0.439	T	0.77879	-0.2423	9	.	.	.	.	15.7953	0.78404	0.0:0.0:1.0:0.0	.	1429	Q9Y6X6	MYO16_HUMAN	K	1429	ENSP00000349145:E1429K;ENSP00000350160:E1429K	.	E	+	1	0	MYO16	108590912	1.000000	0.71417	0.155000	0.22561	0.877000	0.50540	7.182000	0.77689	1.955000	0.56771	0.467000	0.42956	GAG	-	MYO16	-	NULL		0.736	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	0	0		18	18		0.00		G	NM_015011		109792911	+1	5		13		tier1	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	27.78		SNP	1.000	A	5	13
ARMC4	55130	genome.wustl.edu	37	10	28270465	28270465	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:28270465G>A	ENST00000305242.5	-	7	958	c.866C>T	c.(865-867)tCa>tTa	p.S289L	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.S146L|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	289					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTATAAATTGAACCTTTTCT	0.284													ENSG00000169126																																					0													95.0	100.0	99.0					10																	28270465		2201	4294	6495	SO:0001583	missense	0			-	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.866C>T	10.37:g.28270465G>A	ENSP00000306410:p.Ser289Leu		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.S289L	ENST00000305242.5	37	c.866	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293723	0.23564	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.46451	1.46;0.88;0.87	5.01	-2.16	0.07080	.	0.416445	0.27358	N	0.019729	T	0.22166	0.0534	N	0.14661	0.345	0.18873	N	0.999983	B	0.25441	0.126	B	0.21360	0.034	T	0.12708	-1.0537	10	0.72032	D	0.01	-7.9347	10.5909	0.45308	0.107:0.0:0.5167:0.3763	.	289	Q5T2S8	ARMC4_HUMAN	L	289;183;146	ENSP00000306410:S289L;ENSP00000398155:S183L;ENSP00000239715:S146L	ENSP00000239715:S146L	S	-	2	0	ARMC4	28310471	0.978000	0.34361	0.001000	0.08648	0.376000	0.30014	1.843000	0.39259	-0.587000	0.05890	-0.274000	0.10170	TCA	-	ARMC4	-	superfamily_GSKIP_dom		0.284	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	0	0		119	119		0.00		G	NM_018076		28270465	-1	23		97		tier1	no_errors	ENST00000305242	ensembl	human	known	74_37	missense	19.17		SNP	0.389	A	23	97
SLC22A24	283238	genome.wustl.edu	37	11	62863494	62863494	+	Nonsense_Mutation	SNP	G	G	A	rs374095536	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62863494G>A	ENST00000417740.1	-	6	1480	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						ACTCTCATTCGCAATTTGGGT	0.398													ENSG00000197658	G|||	18	0.00359425	0.0136	0.0	5008	,	,		20485	0.0		0.0	False		,,,				2504	0.0																0								G	stop/ARG	6,1378		0,6,686	112.0	97.0	101.0		1039	-2.4	0.0	11		101	0,3182		0,0,1591	no	stop-gained	SLC22A24	NM_001136506.2		0,6,2277	AA,AG,GG		0.0,0.4335,0.1314		347/553	62863494	6,4560	692	1591	2283	SO:0001587	stop_gained	0			-		CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1039C>T	11.37:g.62863494G>A	ENSP00000396586:p.Arg347*			Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R347*	ENST00000417740.1	37	c.1039		11	.	.	.	.	.	.	.	.	.	.	G	36	5.759821	0.96898	0.004335	0.0	ENSG00000197658	ENST00000417740	.	.	.	3.68	-2.38	0.06622	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9332	0.05805	0.3043:0.0:0.3715:0.3242	.	.	.	.	X	347	.	ENSP00000396586:R347X	R	-	1	2	SLC22A24	62620070	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.203000	0.17315	-0.596000	0.05821	-0.272000	0.10252	CGA	-	SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	0	0		53	53		0.00		G	NM_173586		62863494	-1	12		50		tier1	no_errors	ENST00000417740	ensembl	human	putative	74_37	nonsense	19.35		SNP	0.000	A	12	50
ST6GALNAC4	27090	genome.wustl.edu	37	9	130670790	130670790	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:130670790G>A	ENST00000335791.5	-	6	1065	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.L180L	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	264					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TCGTGTGCCAGGTACATCTGA	0.637													ENSG00000136840																																					0													71.0	73.0	72.0					9																	130670790		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.790C>T	9.37:g.130670790G>A			Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Silent	SNP	pfam_Glyco_trans_29	p.L264	ENST00000335791.5	37	c.790	CCDS6883.1	9																																																																																			-	ST6GALC4	-	pfam_Glyco_trans_29		0.637	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALC4	HGNC	protein_coding	OTTHUMT00000054317.2	0	0		82	82		0.00		G	NM_175040		130670790	-1	42		67		tier1	no_errors	ENST00000335791	ensembl	human	known	74_37	silent	38.53		SNP	0.955	A	42	67
NEURL4	84461	genome.wustl.edu	37	17	7229606	7229606	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7229606C>T	ENST00000399464.2	-	6	1276	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	NEURL4_ENST00000570460.1_Missense_Mutation_p.E399K|NEURL4_ENST00000315614.7_Missense_Mutation_p.E421K	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	421	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCGCAGTACTCCCGGCGGGTG	0.602													ENSG00000215041																																					0													57.0	62.0	60.0					17																	7229606		1993	4165	6158	SO:0001583	missense	0			-		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1261G>A	17.37:g.7229606C>T	ENSP00000382390:p.Glu421Lys		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.E421K	ENST00000399464.2	37	c.1261	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813349	0.90707	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35973	1.28;1.32	4.79	4.79	0.61399	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.65975	2.015	0.53005	D	0.999963	D;D	0.67145	0.996;0.986	D;P	0.65573	0.936;0.898	T	0.54629	-0.8265	10	0.38643	T	0.18	-28.6675	16.7649	0.85521	0.0:1.0:0.0:0.0	.	421;421	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	K	421	ENSP00000319826:E421K;ENSP00000382390:E421K	ENSP00000319826:E421K	E	-	1	0	NEURL4	7170330	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.219000	0.78000	2.500000	0.84329	0.462000	0.41574	GAG	-	NEURL4	-	smart_Neu_Z,pfscan_Neu_Z		0.602	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	0	0		46	46		0.00		C	NM_032442		7229606	-1	24		44		tier1	no_errors	ENST00000399464	ensembl	human	known	74_37	missense	35.29		SNP	1.000	T	24	44
GREB1	9687	genome.wustl.edu	37	2	11721013	11721013	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:11721013C>T	ENST00000381486.2	+	7	1201				GREB1_ENST00000381483.2_Intron|GREB1_ENST00000263834.5_Intron|GREB1_ENST00000389825.3_Missense_Mutation_p.A209V|GREB1_ENST00000234142.5_Intron	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1							integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGGGCCAAGGCCAGAGGGGGC	0.632													ENSG00000196208																									Ovarian(39;850 945 2785 23371 33093)												0																																										SO:0001627	intron_variant	0			-		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.901+55C>T	2.37:g.11721013C>T			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NULL	p.A209V	ENST00000381486.2	37	c.626	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373556	0.24857	.	.	ENSG00000196208	ENST00000389825	T	0.50548	0.74	4.24	-0.148	0.13424	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.22277	-1.0221	7	.	.	.	.	7.7624	0.28959	0.0:0.6928:0.0:0.3072	.	209	F8W6E5	.	V	209	ENSP00000374475:A209V	.	A	+	2	0	GREB1	11638464	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.747000	0.04823	-0.158000	0.11040	0.561000	0.74099	GCC	-	GREB1	-	NULL		0.632	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	0	0		40	40		0.00		C	NM_014668		11721013	+1	8		42		tier1	no_errors	ENST00000389825	ensembl	human	putative	74_37	missense	16.00		SNP	0.000	T	8	42
GK5	256356	genome.wustl.edu	37	3	141923410	141923410	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:141923410G>A	ENST00000392993.2	-	4	563				GK5_ENST00000466685.3_5'UTR|GK5_ENST00000544571.1_Intron	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)						glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AACTTCACTGGAATGGGGAGT	0.368													ENSG00000175066																																					0																																										SO:0001627	intron_variant	0			-	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.411+126C>T	3.37:g.141923410G>A			B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	R	SNP	-	NULL	ENST00000392993.2	37	NULL	CCDS33871.1	3																																																																																			-	GK5	-	-		0.368	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	0	0		97	97		0.00		G	NM_001039547		141923410	-1	32		66		tier1	no_errors	ENST00000466685	ensembl	human	known	74_37	rna	32.65		SNP	0.000	A	32	66
PAQR5	54852	genome.wustl.edu	37	15	69689909	69689909	+	Intron	SNP	G	G	A	rs376571461		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:69689909G>A	ENST00000340965.3	+	7	1277				RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Intron|PAQR5_ENST00000561153.1_Intron|RP11-253M7.1_ENST00000558617.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V						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						ACAGGGTAAGGACTGGCTGCA	0.532													ENSG00000259426																																					0								G	,	1,4397	2.1+/-5.4	0,1,2198	147.0	122.0	130.0		,	1.6	0.6	15		130	0,8596		0,0,4298	no	intron,intron	PAQR5	NM_001104554.1,NM_017705.3	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	,	69689909	1,12993	2199	4298	6497	SO:0001627	intron_variant	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.609+6G>A	15.37:g.69689909G>A			Q8IXU2	R	SNP	-	NULL	ENST00000340965.3	37	NULL	CCDS10232.1	15																																																																																			-	RP11-253M7.1	-	-		0.532	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259426	Clone_based_vega_gene	protein_coding	OTTHUMT00000416671.1	0	0		61	61		0.00		G	NM_017705		69689909	-1	11		18		tier1	no_errors	ENST00000558617	ensembl	human	known	74_37	rna	37.93		SNP	0.500	A	11	18
CLSTN1	22883	genome.wustl.edu	37	1	9795085	9795085	+	Silent	SNP	G	G	A	rs144945908		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:9795085G>A	ENST00000377298.4	-	14	2823	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Silent_p.F667F|CLSTN1_ENST00000377288.3_Silent_p.F658F	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	677					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGGAAAAGGAACACCCCTT	0.567													ENSG00000171603																																					0													110.0	117.0	115.0					1																	9795085		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2031C>T	1.37:g.9795085G>A			A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F677	ENST00000377298.4	37	c.2031	CCDS30580.1	1																																																																																			-	CLSTN1	-	NULL		0.567	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	0	0		48	48		0.00		G			9795085	-1	23		46		tier1	no_errors	ENST00000377298	ensembl	human	known	74_37	silent	33.33		SNP	1.000	A	23	46
CHRND	1144	genome.wustl.edu	37	2	233399932	233399932	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233399932C>T	ENST00000258385.3	+	12	1496	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	CHRND_ENST00000457943.2_Silent_p.I294I|CHRND_ENST00000543200.1_Silent_p.I473I	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	488					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CAGCCTGGATCTTCCTGCAGG	0.612													ENSG00000135902																																					0													116.0	112.0	114.0					2																	233399932		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1464C>T	2.37:g.233399932C>T			A8K661|B4DT92|Q52LH4	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I488	ENST00000258385.3	37	c.1464	CCDS2494.1	2																																																																																			-	CHRND	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.612	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	0	0		63	63		0.00		C			233399932	+1	8		75		tier1	no_errors	ENST00000258385	ensembl	human	known	74_37	silent	9.64		SNP	1.000	T	8	75
KRTAP21-2	337978	genome.wustl.edu	37	21	32119340	32119340	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:32119340A>C	ENST00000333892.2	-	1	211	c.181T>G	c.(181-183)Tgt>Ggt	p.C61G		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	61						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						CTGtatccacagccatatcca	0.517													ENSG00000187026																																					0													119.0	100.0	107.0					21																	32119340		2203	4300	6503	SO:0001583	missense	0			-	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"""Keratin associated proteins"""	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.181T>G	21.37:g.32119340A>C	ENSP00000334287:p.Cys61Gly			Missense_Mutation	SNP	pfam_KRTAP_type6/8/16/19/20	p.C61G	ENST00000333892.2	37	c.181	CCDS13605.1	21	.	.	.	.	.	.	.	.	.	.	A	5.322	0.244832	0.10077	.	.	ENSG00000187026	ENST00000333892	T	0.11169	2.8	4.21	1.73	0.24493	.	.	.	.	.	T	0.07503	0.0189	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.26094	0.066	T	0.37361	-0.9709	8	0.44086	T	0.13	-11.6603	3.6743	0.08286	0.7023:0.0:0.1073:0.1904	.	61	Q3LI59	KR212_HUMAN	G	61	ENSP00000334287:C61G	ENSP00000334287:C61G	C	-	1	0	KRTAP21-2	31041211	0.022000	0.18835	0.001000	0.08648	0.012000	0.07955	0.433000	0.21477	0.138000	0.18790	0.528000	0.53228	TGT	-	KRTAP21-2	-	NULL		0.517	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP21-2	HGNC	protein_coding	OTTHUMT00000128221.2	0	0		56	56		0.00		A			32119340	-1	18		69		tier1	no_errors	ENST00000333892	ensembl	human	known	74_37	missense	20.69		SNP	0.004	C	18	69
CD109	135228	genome.wustl.edu	37	6	74498282	74498282	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:74498282C>T	ENST00000287097.5	+	22	2760	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L	CD109_ENST00000422508.2_Missense_Mutation_p.S806L|CD109_ENST00000437994.2_Missense_Mutation_p.S883L			Q6YHK3	CD109_HUMAN	CD109 molecule	883					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGAGTTTCTCATTTCCTCCT	0.353													ENSG00000156535																																					0													85.0	86.0	86.0					6																	74498282		2203	4300	6503	SO:0001583	missense	0			-	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2648C>T	6.37:g.74498282C>T	ENSP00000287097:p.Ser883Leu		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S883L	ENST00000287097.5	37	c.2648	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375049	0.82682	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.25085	1.84;2.04;1.82	5.22	5.22	0.72569	.	0.332930	0.30260	N	0.010037	T	0.19366	0.0465	L	0.35644	1.08	0.42333	D	0.992304	P;B;B	0.50443	0.935;0.057;0.054	P;B;B	0.45681	0.49;0.072;0.027	T	0.01363	-1.1374	10	0.59425	D	0.04	.	18.974	0.92728	0.0:1.0:0.0:0.0	.	806;883;883	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	L	883;806;883	ENSP00000388062:S883L;ENSP00000404475:S806L;ENSP00000287097:S883L	ENSP00000287097:S883L	S	+	2	0	CD109	74555003	0.995000	0.38212	0.987000	0.45799	0.956000	0.61745	3.412000	0.52679	2.713000	0.92767	0.655000	0.94253	TCA	-	CD109	-	NULL		0.353	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	0	0		37	37		0.00		C	NM_133493		74498282	+1	12		45		tier1	no_errors	ENST00000287097	ensembl	human	known	74_37	missense	21.05		SNP	0.995	T	12	45
CCDC30	728621	genome.wustl.edu	37	1	43011180	43011180	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:43011180G>A	ENST00000340612.4	+	3	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CCDC30_ENST00000428554.2_Missense_Mutation_p.D119N|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.D119N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	119						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TACCTGTAAAGATCCTGAATC	0.338													ENSG00000186409																																					0													64.0	72.0	69.0					1																	43011180		2202	4300	6502	SO:0001583	missense	0			-	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.355G>A	1.37:g.43011180G>A	ENSP00000340378:p.Asp119Asn		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.D119N	ENST00000340612.4	37	c.355	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752837	0.69648	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000342022	T;T;T	0.51071	0.72;0.72;0.72	5.17	5.17	0.71159	.	0.358157	0.30723	N	0.009017	T	0.63129	0.2485	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.65253	-0.6213	10	0.62326	D	0.03	.	14.1548	0.65410	0.0:0.0:1.0:0.0	.	119	Q5VVM6	CCD30_HUMAN	N	119	ENSP00000397035:D119N;ENSP00000340378:D119N;ENSP00000339280:D119N	ENSP00000340378:D119N	D	+	1	0	CCDC30	42783767	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	3.376000	0.52417	2.402000	0.81655	0.462000	0.41574	GAT	-	CCDC30	-	NULL		0.338	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	0	0		119	119		0.00		G	NM_025030		43011180	+1	54		90		tier1	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	37.50		SNP	1.000	A	54	90
RGS22	26166	genome.wustl.edu	37	8	101065132	101065132	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:101065132G>A	ENST00000360863.6	-	10	1781	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	RGS22_ENST00000523287.1_Silent_p.L348L|RGS22_ENST00000523437.1_Silent_p.L517L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	529					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTGCTTGACGGAGGTGCCAGA	0.413													ENSG00000132554																																					0													207.0	206.0	206.0					8																	101065132		1900	4115	6015	SO:0001819	synonymous_variant	0			-	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1587C>T	8.37:g.101065132G>A			A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.L529	ENST00000360863.6	37	c.1587	CCDS43758.1	8																																																																																			-	RGS22	-	NULL		0.413	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	0	0		75	75		0.00		G	NM_015668		101065132	-1	10		97		tier1	no_errors	ENST00000360863	ensembl	human	known	74_37	silent	9.35		SNP	0.564	A	10	97
GTSE1	51512	genome.wustl.edu	37	22	46704373	46704373	+	Missense_Mutation	SNP	G	G	A	rs200240747		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:46704373G>A	ENST00000454366.1	+	4	507	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	80					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGAGAAGTTCGTGGAGGTGTA	0.567													ENSG00000075218																									GBM(153;542 1915 12487 29016 50495)												0								G	MET/VAL	0,4406		0,0,2203	79.0	89.0	86.0		295	5.7	0.9	22		86	2,8598	2.2+/-6.3	0,2,4298	no	missense	GTSE1	NM_016426.6	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	99/740	46704373	2,13004	2203	4300	6503	SO:0001583	missense	0			-	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.295G>A	22.37:g.46704373G>A	ENSP00000415430:p.Val99Met		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.V99M	ENST00000454366.1	37	c.295	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629124	0.87560	0.0	2.33E-4	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.10099	2.91	5.74	5.74	0.90152	.	0.171066	0.49916	D	0.000123	T	0.32376	0.0827	M	0.66939	2.045	0.42123	D	0.991435	D	0.89917	1.0	D	0.63703	0.917	T	0.01051	-1.1468	10	0.72032	D	0.01	-22.3714	19.5244	0.95197	0.0:0.0:1.0:0.0	.	80	Q9NYZ3	GTSE1_HUMAN	M	99;59	ENSP00000415430:V99M	ENSP00000354634:V59M	V	+	1	0	GTSE1	45083037	1.000000	0.71417	0.888000	0.34837	0.932000	0.56968	2.954000	0.49113	2.700000	0.92200	0.655000	0.94253	GTG	rs200240747	GTSE1	-	NULL		0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	0	0		96	96		0.00		G	NM_016426		46704373	+1	43		66		tier1	no_errors	ENST00000454366	ensembl	human	known	74_37	missense	39.45		SNP	0.997	A	43	66
HSPA12B	116835	genome.wustl.edu	37	20	3721480	3721480	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:3721480C>T	ENST00000254963.2	+	3	207	c.62C>T	c.(61-63)tCc>tTc	p.S21F	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	21							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCGGAGCGGTCCCCAGTGCCT	0.662													ENSG00000132622																																					0													44.0	42.0	43.0					20																	3721480		2203	4300	6503	SO:0001583	missense	0			-	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.62C>T	20.37:g.3721480C>T	ENSP00000254963:p.Ser21Phe		D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	NULL	p.S21F	ENST00000254963.2	37	c.62	CCDS13061.1	20	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073242	0.55646	.	.	ENSG00000132622	ENST00000254963	T	0.03663	3.85	4.3	4.3	0.51218	.	.	.	.	.	T	0.05318	0.0141	L	0.44542	1.39	0.22581	N	0.998963	B;B	0.33135	0.399;0.399	B;B	0.34242	0.178;0.178	T	0.26815	-1.0092	9	0.52906	T	0.07	.	12.4781	0.55825	0.0:1.0:0.0:0.0	.	21;21	B7ZLP2;Q96MM6	.;HS12B_HUMAN	F	21	ENSP00000254963:S21F	ENSP00000254963:S21F	S	+	2	0	HSPA12B	3669480	0.987000	0.35691	0.952000	0.39060	0.885000	0.51271	3.800000	0.55537	2.402000	0.81655	0.655000	0.94253	TCC	-	HSPA12B	-	NULL		0.662	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	HGNC	protein_coding	OTTHUMT00000077756.2	0	0		42	42		0.00		C	NM_052970		3721480	+1	15		36		tier1	no_errors	ENST00000254963	ensembl	human	known	74_37	missense	29.41		SNP	0.102	T	15	36
FOXD4L1	200350	genome.wustl.edu	37	2	114257069	114257069	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:114257069C>T	ENST00000306507.5	+	1	409	c.236C>T	c.(235-237)cCg>cTg	p.P79L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	79					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GGCGGCGGCCCGAGCGACCCC	0.701													ENSG00000184492																																					0													49.0	69.0	62.0					2																	114257069		2155	4179	6334	SO:0001583	missense	0			-	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.236C>T	2.37:g.114257069C>T	ENSP00000302756:p.Pro79Leu		B3KWN1|B9EGF3	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P79L	ENST00000306507.5	37	c.236	CCDS2117.1	2	.	.	.	.	.	.	.	.	.	.	.	11.29	1.595839	0.28445	.	.	ENSG00000184492	ENST00000306507	D	0.94897	-3.55	2.67	-1.17	0.09648	.	1.848720	0.03897	N	0.279760	D	0.86632	0.5979	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.74500	-0.3645	10	0.20046	T	0.44	.	2.1228	0.03730	0.1883:0.4854:0.1866:0.1396	.	79	Q9NU39	FX4L1_HUMAN	L	79	ENSP00000302756:P79L	ENSP00000302756:P79L	P	+	2	0	FOXD4L1	113973539	0.000000	0.05858	0.002000	0.10522	0.328000	0.28507	-3.444000	0.00469	-0.013000	0.14199	0.184000	0.17185	CCG	-	FOXD4L1	-	NULL		0.701	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L1	HGNC	protein_coding	OTTHUMT00000254148.1	0	0		100	100		0.00		C	NM_012184		114257069	+1	31		109		tier1	no_errors	ENST00000306507	ensembl	human	known	74_37	missense	22.14		SNP	0.001	T	31	109
BMPR2	659	genome.wustl.edu	37	2	203384915	203384915	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:203384915C>T	ENST00000374580.4	+	7	1497	c.958C>T	c.(958-960)Cca>Tca	p.P320S	BMPR2_ENST00000374574.2_Missense_Mutation_p.P320S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CACAGAATTACCACGAGGAGG	0.358													ENSG00000204217																																					0													81.0	78.0	79.0					2																	203384915		2203	4300	6503	SO:0001583	missense	0			-	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.958C>T	2.37:g.203384915C>T	ENSP00000363708:p.Pro320Ser		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P320S	ENST00000374580.4	37	c.958	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272828	0.40194	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93019	-3.15;-3.15	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232550	0.47455	D	0.000235	D	0.91570	0.7337	L	0.60067	1.865	0.46874	D	0.999233	B;B	0.28605	0.217;0.081	B;B	0.28232	0.047;0.087	D	0.88732	0.3237	10	0.21014	T	0.42	.	18.7937	0.91985	0.0:1.0:0.0:0.0	.	320;320	Q13161;Q13873	.;BMPR2_HUMAN	S	320	ENSP00000363708:P320S;ENSP00000363702:P320S	ENSP00000363702:P320S	P	+	1	0	BMPR2	203093160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.496000	0.66918	2.670000	0.90874	0.650000	0.86243	CCA	-	BMPR2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.358	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	0	0		54	54		0.00		C	NM_001204		203384915	+1	12		51		tier1	no_errors	ENST00000374580	ensembl	human	known	74_37	missense	19.05		SNP	1.000	T	12	51
CYP4Z1	199974	genome.wustl.edu	37	1	47571853	47571853	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47571853G>A	ENST00000334194.3	+	9	1124	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	374						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GAATGCCTCCGCCTCTACGCA	0.488													ENSG00000186160																																					0													122.0	106.0	111.0					1																	47571853		2203	4300	6503	SO:0001583	missense	0			-	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1121G>A	1.37:g.47571853G>A	ENSP00000334246:p.Arg374His		Q5VVE4	Missense_Mutation	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.R374H	ENST00000334194.3	37	c.1121	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691267	0.88735	.	.	ENSG00000186160	ENST00000334194	D	0.97505	-4.41	3.25	3.25	0.37280	.	0.000000	0.64402	U	0.000002	D	0.98833	0.9606	H	0.96239	3.79	0.19775	N	0.999956	D	0.89917	1.0	D	0.97110	1.0	D	0.94179	0.7430	10	0.87932	D	0	.	13.8624	0.63569	0.0:0.0:1.0:0.0	.	374	Q86W10	CP4Z1_HUMAN	H	374	ENSP00000334246:R374H	ENSP00000334246:R374H	R	+	2	0	CYP4Z1	47344440	0.980000	0.34600	0.002000	0.10522	0.593000	0.36681	6.651000	0.74372	1.847000	0.53656	0.289000	0.19496	CGC	-	CYP4Z1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.488	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	HGNC	protein_coding	OTTHUMT00000022020.1	0	0		111	111		0.00		G	NM_178134		47571853	+1	50		101		tier1	no_errors	ENST00000334194	ensembl	human	known	74_37	missense	32.89		SNP	0.207	A	50	101
TEX13A	56157	genome.wustl.edu	37	X	104463704	104463704	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:104463704G>A	ENST00000413579.1	-	5	1283	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	391							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATCCCTCCGTGAAAAATTCAC	0.488													ENSG00000133149																																					0													177.0	166.0	170.0					X																	104463704		2106	4207	6313	SO:0001583	missense	0			-	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1172C>T	X.37:g.104463704G>A	ENSP00000399753:p.Ser391Leu		B1B1G8|Q32NB6	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.S391L	ENST00000413579.1	37	c.1172		X	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308903	0.60305	.	.	ENSG00000133149	ENST00000413579	T	0.56444	0.46	3.41	3.41	0.39046	Zinc finger, RanBP2-type (4);	0.000000	0.30036	N	0.010579	T	0.71576	0.3356	M	0.84948	2.725	0.29812	N	0.831586	D	0.89917	1.0	D	0.87578	0.998	T	0.69183	-0.5212	10	0.87932	D	0	.	9.4677	0.38822	0.0:0.0:1.0:0.0	.	391	Q9BXU3	TX13A_HUMAN	L	391	ENSP00000399753:S391L	ENSP00000399753:S391L	S	-	2	0	TEX13A	104350360	1.000000	0.71417	0.945000	0.38365	0.626000	0.37791	3.429000	0.52800	1.977000	0.57605	0.436000	0.28706	TCA	-	TEX13A	-	pfam_Znf_RanBP2,pfscan_Znf_RanBP2		0.488	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding		0	0		30	30		0.00		G	NM_031274		104463704	-1	38		17		tier1	no_errors	ENST00000413579	ensembl	human	known	74_37	missense	69.09		SNP	0.947	A	38	17
PCDHA3	56145	genome.wustl.edu	37	5	140181134	140181134	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140181134C>T	ENST00000522353.2	+	1	352	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H118Y|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTTTTCCATGTGGAGGT	0.542													ENSG00000255408																																					0													119.0	132.0	128.0					5																	140181134		2203	4300	6503	SO:0001583	missense	0			-	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.352C>T	5.37:g.140181134C>T	ENSP00000429808:p.His118Tyr		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H118Y	ENST00000522353.2	37	c.352	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	13.95	2.388794	0.42308	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.37584	1.19;1.19	4.35	3.48	0.39840	Cadherin (3);Cadherin-like (1);	0.161832	0.28510	N	0.015100	T	0.43787	0.1263	L	0.58302	1.8	0.26512	N	0.97457	P;P	0.35481	0.504;0.486	P;B	0.45343	0.477;0.133	T	0.40720	-0.9548	10	0.56958	D	0.05	.	11.9995	0.53222	0.0:0.9147:0.0:0.0853	.	118;118	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	Y	118	ENSP00000429808:H118Y;ENSP00000434086:H118Y	ENSP00000429808:H118Y	H	+	1	0	PCDHA3	140161318	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	-0.142000	0.10311	0.960000	0.38005	0.467000	0.42956	CAT	-	PCDHA3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.542	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	0	0		110	110		0.00		C	NM_018906		140181134	+1	34		104		tier1	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	24.64		SNP	0.999	T	34	104
MACF1	23499	genome.wustl.edu	37	1	39800360	39800360	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:39800360A>G	ENST00000372915.3	+	36	8202	c.8115A>G	c.(8113-8115)aaA>aaG	p.K2705K	MACF1_ENST00000567887.1_Silent_p.K2737K|MACF1_ENST00000564288.1_Silent_p.K2700K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.K1140K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2705					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTACTGGAAAAAGACTGACAT	0.413													ENSG00000127603																																					0													48.0	50.0	49.0					1																	39800360		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8115A>G	1.37:g.39800360A>G			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_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.K2737	ENST00000372915.3	37	c.8211		1																																																																																			-	MACF1	-	pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	0	0		54	54		0.00		A	NM_033044		39800360	+1	12		48		tier1	no_errors	ENST00000567887	ensembl	human	putative	74_37	silent	20.00		SNP	0.992	G	12	48
RSAD1	55316	genome.wustl.edu	37	17	48560723	48560723	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48560723C>T	ENST00000258955.2	+	6	1012	c.927C>T	c.(925-927)ccC>ccT	p.P309P		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	309					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GATTTATGCCCCAGGGGGCTG	0.537													ENSG00000136444																																					0													36.0	38.0	37.0					17																	48560723		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.927C>T	17.37:g.48560723C>T			B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	NULL	p.P175L	ENST00000258955.2	37	c.524	CCDS11569.1	17																																																																																			-	RSAD1	-	NULL		0.537	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	HGNC	protein_coding	OTTHUMT00000367413.1	0	0		47	47		0.00		C	NM_018346		48560723	+1	39		54		tier1	no_errors	ENST00000515221	ensembl	human	known	74_37	missense	41.94		SNP	0.992	T	39	54
PCDHB11	56125	genome.wustl.edu	37	5	140580724	140580724	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140580724C>T	ENST00000354757.3	+	1	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	PCDHB11_ENST00000536699.1_Silent_p.F94F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	459	Cadherin 5. {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)			ACACCCTGTTCGTCCGCGAGA	0.587													ENSG00000197479																																					0													132.0	123.0	126.0					5																	140580724		2203	4296	6499	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.1377C>T	5.37:g.140580724C>T			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F459	ENST00000354757.3	37	c.1377	CCDS4253.1	5																																																																																			-	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.587	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	0	0		174	174		0.00		C	NM_018931		140580724	+1	37		190		tier1	no_errors	ENST00000354757	ensembl	human	known	74_37	silent	16.30		SNP	0.000	T	37	190
HOXA3	3200	genome.wustl.edu	37	7	27149779	27149779	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:27149779C>T	ENST00000396352.4	-	2	680	c.481G>A	c.(481-483)Gag>Aag	p.E161K	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.E161K	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	161					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGTCGAGACTCTTTCATCCAG	0.567													ENSG00000105997																									Esophageal Squamous(136;1368 1743 5685 7935 50360)												0													115.0	114.0	115.0					7																	27149779		2203	4300	6503	SO:0001583	missense	0			-		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.481G>A	7.37:g.27149779C>T	ENSP00000379640:p.Glu161Lys		A4D181	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.E161K	ENST00000396352.4	37	c.481	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702922	0.88924	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	T;T	0.06218	3.33;3.33	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.89534	3.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.24119	-1.0169	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	161	O43365	HXA3_HUMAN	K	161;161;3	ENSP00000379640:E161K;ENSP00000324884:E161K	ENSP00000324884:E161K	E	-	1	0	HOXA3	27116304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.769000	0.95229	0.655000	0.94253	GAG	-	HOXA3	-	NULL		0.567	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	0	0		44	44		0.00		C			27149779	-1	12		36		tier1	no_errors	ENST00000317201	ensembl	human	known	74_37	missense	25.00		SNP	1.000	T	12	36
ZNF540	163255	genome.wustl.edu	37	19	38046816	38046816	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38046816C>T	ENST00000592533.1	+	1	260				ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Silent_p.G128G|ZNF571-AS1_ENST00000588382.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540						negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			tggttgatcccccagagtagg	0.418													ENSG00000180479																																					0																																										SO:0001627	intron_variant	0			-	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.-73+4249C>T	19.37:g.38046816C>T			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_FMuLV_rcpt-bd,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.G128	ENST00000592533.1	37	c.384	CCDS12506.1	19																																																																																			-	ZNF571	-	superfamily_FMuLV_rcpt-bd		0.418	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000459481.1	0	0		41	41		0.00		C	NM_152606		38046816	-1	16		52		tier1	no_errors	ENST00000590751	ensembl	human	putative	74_37	silent	23.53		SNP	0.570	T	16	52
SPIRE1	56907	genome.wustl.edu	37	18	12463463	12463463	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:12463463T>A	ENST00000409402.4	-	12	1792	c.1525A>T	c.(1525-1527)Aca>Tca	p.T509S	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.T375S|SPIRE1_ENST00000383356.2_Missense_Mutation_p.T336S|SPIRE1_ENST00000309836.5_Missense_Mutation_p.T298S|SPIRE1_ENST00000410092.3_Missense_Mutation_p.T495S	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGCTGGGGTGTTGATGATATG	0.458													ENSG00000134278																																					0													96.0	91.0	93.0					18																	12463463		2203	4300	6503	SO:0001583	missense	0			-	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1525A>T	18.37:g.12463463T>A	ENSP00000387266:p.Thr509Ser			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.T509S	ENST00000409402.4	37	c.1525	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172167	0.78452	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.45276	0.91;1.54;1.5;0.9;0.9	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	L	0.46157	1.445	0.54753	D	0.999989	D;B;D	0.71674	0.984;0.427;0.998	P;B;D	0.76071	0.763;0.131;0.987	T	0.46176	-0.9210	10	0.08837	T	0.75	-16.4291	15.729	0.77788	0.0:0.0:0.0:1.0	.	495;298;509	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	S	375;509;495;298;336	ENSP00000407050:T375S;ENSP00000387266:T509S;ENSP00000387226:T495S;ENSP00000309661:T298S;ENSP00000372847:T336S	ENSP00000309661:T298S	T	-	1	0	SPIRE1	12453463	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.569000	0.60865	2.183000	0.69458	0.477000	0.44152	ACA	-	SPIRE1	-	NULL		0.458	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2	0	0		52	52		0.00		T	XM_290818		12463463	-1	30		42		tier1	no_errors	ENST00000409402	ensembl	human	known	74_37	missense	41.67		SNP	0.999	A	30	42
POLG2	11232	genome.wustl.edu	37	17	62486789	62486789	+	Intron	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:62486789C>A	ENST00000539111.2	-	4	1037					NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit						DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			gtgagtgtctctgcatctgaa	0.358													ENSG00000256525																									Colon(3;18 21 435 17652 48887)												0																																										SO:0001627	intron_variant	0			-	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.969+123G>T	17.37:g.62486789C>A			O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	R	SNP	-	NULL	ENST00000539111.2	37	NULL	CCDS32706.1	17																																																																																			-	POLG2	-	-		0.358	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	HGNC	protein_coding	OTTHUMT00000443820.1	0	0		10	10		0.00		C	NM_007215		62486789	-1	9		11		tier1	no_errors	ENST00000580893	ensembl	human	known	74_37	rna	45.00		SNP	0.001	A	9	11
MCM3AP	8888	genome.wustl.edu	37	21	47704036	47704036	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47704036G>A	ENST00000397708.1	-	2	1419	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000397691.1_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R389W|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000329319.3_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	389					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCTGGAATCCGGGAAGGTGCC	0.478													ENSG00000160294																																					0													103.0	108.0	106.0					21																	47704036		2203	4300	6503	SO:0001583	missense	0			-	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1165C>T	21.37:g.47704036G>A	ENSP00000380820:p.Arg389Trp		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R389W	ENST00000397708.1	37	c.1165	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404173	0.62288	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03889	3.77;3.77	5.33	2.39	0.29439	.	0.366594	0.25164	N	0.032654	T	0.09774	0.0240	L	0.29908	0.895	0.31087	N	0.711241	D	0.89917	1.0	D	0.67231	0.95	T	0.03957	-1.0989	10	0.72032	D	0.01	-18.4187	8.5963	0.33718	0.0:0.136:0.4077:0.4563	.	389	O60318	MCM3A_HUMAN	W	389	ENSP00000380820:R389W;ENSP00000291688:R389W	ENSP00000291688:R389W	R	-	1	2	MCM3AP	46528464	0.989000	0.36119	0.951000	0.38953	0.897000	0.52465	1.096000	0.30976	0.198000	0.20407	0.563000	0.77884	CGG	-	MCM3AP	-	NULL		0.478	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	0	0		64	64		0.00		G	NM_003906		47704036	-1	31		77		tier1	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	28.70		SNP	0.949	A	31	77
WDR87	83889	genome.wustl.edu	37	19	38378207	38378207	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38378207C>T	ENST00000303868.5	-	6	6211	c.5987G>A	c.(5986-5988)aGg>aAg	p.R1996K	WDR87_ENST00000447313.2_Missense_Mutation_p.R2035K	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1996	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						AGTCATTTTCCTTTGTCTAGA	0.413													ENSG00000171804																																					0													72.0	56.0	61.0					19																	38378207		692	1591	2283	SO:0001583	missense	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.5987G>A	19.37:g.38378207C>T	ENSP00000368025:p.Arg1996Lys		Q9BWV9	Missense_Mutation	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.R2035K	ENST00000303868.5	37	c.6104	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	8.857	0.945932	0.18356	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.12255	2.7;2.7	4.7	-8.04	0.01110	.	.	.	.	.	T	0.03827	0.0108	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.41052	-0.9530	9	0.02654	T	1	.	2.068	0.03607	0.1056:0.2935:0.2093:0.3916	.	1996;2035	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	K	2035;1996	ENSP00000405012:R2035K;ENSP00000368025:R1996K	ENSP00000368025:R1996K	R	-	2	0	WDR87	43070047	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.368000	0.01077	-1.079000	0.03113	-0.402000	0.06365	AGG	-	WDR87	-	superfamily_ARM-type_fold		0.413	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	0	0		37	37		0.00		C	XM_940478		38378207	-1	4		34		tier1	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	10.53		SNP	0.000	T	4	34
FAM187A	100528020	genome.wustl.edu	37	17	42981923	42981923	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42981923C>T	ENST00000331733.4	+	4	2562	c.726C>T	c.(724-726)ccC>ccT	p.P242P	AC015936.3_ENST00000441312.1_RNA|FAM187A_ENST00000412523.2_Silent_p.P242P|CCDC103_ENST00000417826.2_3'UTR	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	A6NFU0	F187A_HUMAN	family with sequence similarity 187, member A	242						integral component of membrane (GO:0016021)											GCTTAGTACCCTGTGAGAAGA	0.607													ENSG00000214447																																					0																																										SO:0001819	synonymous_variant	0			-			17q21.31	2013-01-11			ENSG00000214447	ENSG00000214447		"""Immunoglobulin superfamily / V-set domain containing"""	35153	protein-coding gene	gene with protein product							Standard			Approved		uc002ihp.1	A6NFU0	OTTHUMG00000154266	ENST00000331733.4:c.726C>T	17.37:g.42981923C>T				Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.P242	ENST00000331733.4	37	c.726		17																																																																																			-	FAM187A	-	NULL		0.607	FAM187A-001	KNOWN	basic|appris_principal	protein_coding	FAM187A	HGNC	protein_coding	OTTHUMT00000334584.1	0	0		26	26		0.00		C			42981923	+1	12		51		tier1	no_errors	ENST00000331733	ensembl	human	known	74_37	silent	19.05		SNP	1.000	T	12	51
GPR107	57720	genome.wustl.edu	37	9	132841942	132841942	+	Silent	SNP	C	C	T	rs147298143		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:132841942C>T	ENST00000372406.1	+	5	927	c.420C>T	c.(418-420)acC>acT	p.T140T	GPR107_ENST00000372410.3_Silent_p.T140T|GPR107_ENST00000347136.6_Silent_p.T140T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	140						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AAGCTGGTACCCAGTTACCAA	0.493													ENSG00000148358																																					0								C	,,	1,4405	2.1+/-5.4	0,1,2202	76.0	71.0	73.0		420,420,420	1.0	0.9	9	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GPR107	NM_001136557.1,NM_001136558.1,NM_020960.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	140/601,140/572,140/553	132841942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.420C>T	9.37:g.132841942C>T			A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt	p.T140	ENST00000372406.1	37	c.420	CCDS48041.1	9																																																																																			rs147298143	GPR107	-	NULL		0.493	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	0	0		61	61		0.00		C			132841942	+1	12		37		tier1	no_errors	ENST00000372410	ensembl	human	known	74_37	silent	24.49		SNP	0.958	T	12	37
KMT2D	8085	genome.wustl.edu	37	12	49426709	49426709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:49426709G>A	ENST00000301067.7	-	39	11778	c.11779C>T	c.(11779-11781)Cag>Tag	p.Q3927*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3927	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3657*(1)|p.Q3927*(1)									tgttgctgctgaagttgctgt	0.532													ENSG00000167548																																					2	Substitution - Nonsense(2)	urinary_tract(2)											18.0	19.0	19.0					12																	49426709		1807	3358	5165	SO:0001587	stop_gained	0			-	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11779C>T	12.37:g.49426709G>A	ENSP00000301067:p.Gln3927*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3927*	ENST00000301067.7	37	c.11779	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	49	15.456938	0.99834	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.74	3.85	0.44370	.	0.000000	0.34906	N	0.003588	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6853	0.56944	0.0872:0.0:0.9128:0.0	.	.	.	.	X	3927	.	ENSP00000301067:Q3927X	Q	-	1	0	MLL2	47712976	0.001000	0.12720	0.720000	0.30636	0.010000	0.07245	0.936000	0.28938	2.625000	0.88918	0.655000	0.94253	CAG	-	KMT2D	-	NULL		0.532	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	0	0		22	22		0.00		G			49426709	-1	12		16		tier1	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	42.86		SNP	0.007	A	12	16
SETD1A	9739	genome.wustl.edu	37	16	30977487	30977487	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30977487C>T	ENST00000262519.8	+	8	2971	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	762					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGCCCTCCTCCTCAGTCTCG	0.672													ENSG00000099381																																					0													17.0	19.0	19.0					16																	30977487		2176	4253	6429	SO:0001583	missense	0			-	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2285C>T	16.37:g.30977487C>T	ENSP00000262519:p.Ser762Phe		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S762F	ENST00000262519.8	37	c.2285	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626660	0.46840	.	.	ENSG00000099381	ENST00000262519	D	0.93953	-3.32	5.59	5.59	0.84812	.	0.611865	0.15977	N	0.235470	D	0.91553	0.7332	N	0.11560	0.145	0.50467	D	0.999878	D	0.62365	0.991	P	0.55161	0.77	D	0.92577	0.6071	10	0.54805	T	0.06	.	18.3612	0.90375	0.0:1.0:0.0:0.0	.	762	O15047	SET1A_HUMAN	F	762	ENSP00000262519:S762F	ENSP00000262519:S762F	S	+	2	0	SETD1A	30884988	0.997000	0.39634	0.986000	0.45419	0.701000	0.40568	3.894000	0.56250	2.635000	0.89317	0.655000	0.94253	TCC	-	SETD1A	-	NULL		0.672	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	0	0		18	18		0.00		C	NM_014712		30977487	+1	13		23		tier1	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	36.11		SNP	0.996	T	13	23
ALDH4A1	8659	genome.wustl.edu	37	1	19200961	19200961	+	Silent	SNP	G	G	A	rs200337577		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:19200961G>A	ENST00000375341.3	-	14	1832	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	ALDH4A1_ENST00000290597.5_Silent_p.A525A|ALDH4A1_ENST00000538839.1_Silent_p.A474A|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.A465A	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	525				RAS -> GSA (in Ref. 10; AA sequence). {ECO:0000305}.	4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		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;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCACCAGAGGCTCGGGCCC	0.592													ENSG00000159423	G|||	1	0.000199681	0.0	0.0	5008	,	,		16529	0.001		0.0	False		,,,				2504	0.0																0													66.0	69.0	68.0					1																	19200961		2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1575C>T	1.37:g.19200961G>A			A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.A525	ENST00000375341.3	37	c.1575	CCDS188.1	1																																																																																			rs200337577	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.592	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	0	0		129	129		0.00		G			19200961	-1	59		102		tier1	no_errors	ENST00000290597	ensembl	human	known	74_37	silent	36.65		SNP	0.982	A	59	102
PRAM1	84106	genome.wustl.edu	37	19	8564148	8564148	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8564148C>T	ENST00000423345.4	-	2	1064	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PRAM1_ENST00000255612.3_Missense_Mutation_p.E182K			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	230	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GATTTGGGTTCGGAGGGGGGT	0.677													ENSG00000133246																																					0													15.0	16.0	16.0					19																	8564148		1908	4102	6010	SO:0001583	missense	0			-	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.544G>A	19.37:g.8564148C>T	ENSP00000408342:p.Glu182Lys		Q8N6W7	Missense_Mutation	SNP	superfamily_SH3_domain	p.E182K	ENST00000423345.4	37	c.544	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198961	0.38806	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.19105	2.17;2.18	3.5	1.19	0.21007	.	2.287840	0.02302	N	0.071245	T	0.19167	0.0460	N	0.24115	0.695	0.09310	N	1	P;D	0.56968	0.912;0.978	B;P	0.44597	0.374;0.454	T	0.34054	-0.9844	10	0.44086	T	0.13	.	9.5416	0.39255	0.0:0.58:0.42:0.0	.	182;230	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	K	182	ENSP00000255612:E182K;ENSP00000408342:E182K	ENSP00000255612:E182K	E	-	1	0	PRAM1	8470148	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.002000	0.03686	0.407000	0.25591	0.591000	0.81541	GAA	-	PRAM1	-	NULL		0.677	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000397040.3	0	0		38	38		0.00		C	NM_032152		8564148	-1	34		39		tier1	no_errors	ENST00000423345	ensembl	human	known	74_37	missense	46.58		SNP	0.001	T	34	39
MED29	55588	genome.wustl.edu	37	19	39880307	39880307	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:39880307G>A	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.P79S|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221266.7_Missense_Mutation_p.P79S|PAF1_ENST00000221265.3_Missense_Mutation_p.P89S|MED29_ENST00000315588.5_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGGTGTCAGGATTGATGAGA	0.577													ENSG00000006712																																					0													150.0	125.0	133.0					19																	39880307		2203	4300	6503	SO:0001631	upstream_gene_variant	0			-	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880307G>A	Exception_encountered		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_R_pol_II-assoc_Paf1	p.P89S	ENST00000599213.2	37	c.265		19	.	.	.	.	.	.	.	.	.	.	g	21.7	4.189189	0.78789	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.29	5.29	0.74685	.	0.066485	0.64402	D	0.000011	T	0.75481	0.3855	M	0.71206	2.165	0.80722	D	1	D;D	0.63046	0.981;0.992	P;D	0.70487	0.704;0.969	T	0.71151	-0.4676	9	0.24483	T	0.36	-12.4613	14.3073	0.66393	0.0:0.0:1.0:0.0	.	79;89	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	S	89;79	.	ENSP00000221265:P89S	P	-	1	0	PAF1	44572147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.644000	0.91044	2.752000	0.94435	0.558000	0.71614	CCT	-	PAF1	-	pfam_R_pol_II-assoc_Paf1		0.577	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000470870.1	0	0		42	42		0.00		G	XM_290829		39880307	-1	9		31		tier1	no_errors	ENST00000221265	ensembl	human	known	74_37	missense	22.50		SNP	1.000	A	9	31
DIP2A	23181	genome.wustl.edu	37	21	47918713	47918713	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47918713G>T	ENST00000417564.2	+	5	643	c.622G>T	c.(622-624)Gca>Tca	p.A208S	DIP2A_ENST00000400274.1_Missense_Mutation_p.A208S|DIP2A_ENST00000435722.3_Missense_Mutation_p.A208S|DIP2A_ENST00000457905.3_Missense_Mutation_p.A208S|DIP2A_ENST00000427143.2_Missense_Mutation_p.A144S|DIP2A_ENST00000318711.7_Missense_Mutation_p.A208S|DIP2A_ENST00000466639.1_Missense_Mutation_p.A208S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	208					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGCTACCACTGCACTCGCAGG	0.662													ENSG00000160305																																					0													24.0	32.0	29.0					21																	47918713		2031	4161	6192	SO:0001583	missense	0			-	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.622G>T	21.37:g.47918713G>T	ENSP00000392066:p.Ala208Ser		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A208S	ENST00000417564.2	37	c.622	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	0.425	-0.906438	0.02453	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.22134	1.99;1.99;2.03;2.0;1.99;1.99;1.97	4.98	3.97	0.46021	.	0.517985	0.18374	N	0.143175	T	0.11836	0.0288	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B	0.31548	0.004;0.003;0.328;0.002;0.002;0.01	B;B;B;B;B;B	0.27380	0.005;0.016;0.079;0.002;0.009;0.023	T	0.26883	-1.0090	10	0.05959	T	0.93	-4.6269	7.8494	0.29446	0.2119:0.0:0.7881:0.0	.	208;144;208;208;208;208	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	S	208;144;208;208;208;208;208;208	ENSP00000383133:A208S;ENSP00000400528:A144S;ENSP00000323633:A208S;ENSP00000393434:A208S;ENSP00000430249:A208S;ENSP00000415089:A208S;ENSP00000392066:A208S	ENSP00000323633:A208S	A	+	1	0	DIP2A	46743141	0.993000	0.37304	0.012000	0.15200	0.059000	0.15707	4.563000	0.60823	0.839000	0.34971	0.655000	0.94253	GCA	-	DIP2A	-	NULL		0.662	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	0	0		76	76		0.00		G	NM_015151		47918713	+1	20		50		tier1	no_errors	ENST00000318711	ensembl	human	known	74_37	missense	28.57		SNP	0.155	T	20	50
PCLO	27445	genome.wustl.edu	37	7	82546087	82546087	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:82546087T>G	ENST00000333891.9	-	7	11552	c.11215A>C	c.(11215-11217)Aca>Cca	p.T3739P	PCLO_ENST00000423517.2_Missense_Mutation_p.T3739P|PCLO_ENST00000437081.1_Missense_Mutation_p.T459P	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						GTGCTGAATGTGGATTGAGTT	0.463													ENSG00000186472																																					0													137.0	122.0	126.0					7																	82546087		1871	4129	6000	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.11215A>C	7.37:g.82546087T>G	ENSP00000334319:p.Thr3739Pro			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.T3739P	ENST00000333891.9	37	c.11215	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	9.078	0.998526	0.19121	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.15139	2.45;2.45	5.71	0.723	0.18231	.	.	.	.	.	T	0.08714	0.0216	N	0.10874	0.06	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.31052	-0.9957	9	0.87932	D	0	.	6.2758	0.20979	0.0:0.3599:0.2352:0.4049	.	3670;3739;3739	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	P	3739;3739;459	ENSP00000334319:T3739P;ENSP00000388393:T3739P	ENSP00000334319:T3739P	T	-	1	0	PCLO	82384023	0.002000	0.14202	0.012000	0.15200	0.902000	0.53008	0.186000	0.16978	0.126000	0.18424	0.460000	0.39030	ACA	-	PCLO	-	NULL		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		43	43		0.00		T	NM_014510		82546087	-1	32		26		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	55.17		SNP	0.003	G	32	26
FCGRT	2217	genome.wustl.edu	37	19	50028814	50028814	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:50028814G>A	ENST00000221466.5	+	6	1458	c.972G>A	c.(970-972)atG>atA	p.M324I	FCGRT_ENST00000599988.1_Missense_Mutation_p.M58I|FCGRT_ENST00000596975.1_Missense_Mutation_p.M232I|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000426395.3_Missense_Mutation_p.M324I	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	324					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGAGAAGGATGAGGAGTGGGC	0.617													ENSG00000104870																																					0													49.0	44.0	46.0					19																	50028814		2203	4300	6503	SO:0001583	missense	0			-	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.972G>A	19.37:g.50028814G>A	ENSP00000221466:p.Met324Ile		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.M324I	ENST00000221466.5	37	c.972	CCDS12770.1	19	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666567	0.29604	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00711	5.8;5.8	4.73	1.36	0.22044	.	0.000000	0.43919	D	0.000518	T	0.00784	0.0026	L	0.43923	1.385	0.09310	N	0.999997	B	0.15473	0.013	B	0.09377	0.004	T	0.48547	-0.9026	10	0.87932	D	0	.	3.5054	0.07688	0.2082:0.0:0.5591:0.2327	.	324	P55899	FCGRN_HUMAN	I	324	ENSP00000221466:M324I;ENSP00000410798:M324I	ENSP00000221466:M324I	M	+	3	0	FCGRT	54720626	0.903000	0.30736	0.053000	0.19242	0.067000	0.16453	1.260000	0.32968	0.640000	0.30582	0.563000	0.77884	ATG	-	FCGRT	-	NULL		0.617	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	0	0		64	64		0.00		G			50028814	+1	22		53		tier1	no_errors	ENST00000221466	ensembl	human	known	74_37	missense	29.33		SNP	0.010	A	22	53
ADAMTS3	9508	genome.wustl.edu	37	4	73169770	73169770	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:73169770T>C	ENST00000286657.4	-	17	2324	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	763	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTAAAATATAATGGCCTGT	0.383													ENSG00000156140																									NSCLC(168;1941 2048 2918 13048 43078)												0													143.0	149.0	147.0					4																	73169770		2203	4300	6503	SO:0001583	missense	0			-	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2288A>G	4.37:g.73169770T>C	ENSP00000286657:p.Tyr763Cys		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.Y763C	ENST00000286657.4	37	c.2288	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459143	0.63401	.	.	ENSG00000156140	ENST00000286657	T	0.57273	0.41	5.57	5.57	0.84162	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	T	0.73125	0.3547	M	0.79926	2.475	0.52501	D	0.999959	D	0.71674	0.998	D	0.67382	0.951	T	0.77747	-0.2472	10	0.87932	D	0	.	15.7409	0.77894	0.0:0.0:0.0:1.0	.	763	O15072	ATS3_HUMAN	C	763	ENSP00000286657:Y763C	ENSP00000286657:Y763C	Y	-	2	0	ADAMTS3	73388634	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.871000	0.63042	2.120000	0.65058	0.533000	0.62120	TAT	-	ADAMTS3	-	pfam_ADAM_spacer1		0.383	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	0	0		45	45		0.00		T			73169770	-1	23		36		tier1	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	38.98		SNP	1.000	C	23	36
ZNF790	388536	genome.wustl.edu	37	19	37310645	37310645	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:37310645T>C	ENST00000356725.4	-	5	721	c.601A>G	c.(601-603)Aaa>Gaa	p.K201E	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	201					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCACATTCTTTATCTCCACAG	0.343													ENSG00000197863																																					0													76.0	76.0	76.0					19																	37310645		2203	4300	6503	SO:0001583	missense	0			-	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.601A>G	19.37:g.37310645T>C	ENSP00000349161:p.Lys201Glu			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.K201E	ENST00000356725.4	37	c.601	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968053	0.34754	.	.	ENSG00000197863	ENST00000356725	T	0.14640	2.49	2.92	0.605	0.17553	Zinc finger, C2H2 (1);	.	.	.	.	T	0.08935	0.0221	L	0.39467	1.215	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38887	-0.9640	9	0.29301	T	0.29	.	1.253	0.01986	0.1762:0.1178:0.359:0.347	.	201	Q6PG37	ZN790_HUMAN	E	201	ENSP00000349161:K201E	ENSP00000349161:K201E	K	-	1	0	ZNF790	42002485	0.000000	0.05858	0.002000	0.10522	0.186000	0.23388	-2.517000	0.00954	-0.065000	0.13021	0.260000	0.18958	AAA	-	ZNF790	-	pfscan_Znf_C2H2		0.343	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	0	0		42	42		0.00		T	NM_206894		37310645	-1	21		25		tier1	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	45.65		SNP	0.000	C	21	25
NBEA	26960	genome.wustl.edu	37	13	35733976	35733976	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:35733976G>T	ENST00000400445.3	+	22	4202	c.3668G>T	c.(3667-3669)aGa>aTa	p.R1223I	NBEA_ENST00000310336.4_Missense_Mutation_p.R1223I|NBEA_ENST00000540320.1_Missense_Mutation_p.R1223I|NBEA_ENST00000379939.2_Missense_Mutation_p.R1223I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1223					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTCTGAAAGAGACTTAGCG	0.373													ENSG00000172915																																					0													55.0	56.0	56.0					13																	35733976		1884	4111	5995	SO:0001583	missense	0			-	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3668G>T	13.37:g.35733976G>T	ENSP00000383295:p.Arg1223Ile		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R1223I	ENST00000400445.3	37	c.3668	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245712	0.39697	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.06	6.06	0.98353	.	0.239678	0.43747	D	0.000539	T	0.33702	0.0872	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.15870	0.014	T	0.08452	-1.0721	10	0.38643	T	0.18	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	1223	Q5T321	.	I	1223	ENSP00000440951:R1223I;ENSP00000383295:R1223I;ENSP00000369271:R1223I;ENSP00000308534:R1223I	ENSP00000308534:R1223I	R	+	2	0	NBEA	34631976	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.458000	0.66679	2.880000	0.98712	0.650000	0.86243	AGA	-	NBEA	-	NULL		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		0	0		61	61		0.00		G	NM_015678		35733976	+1	5		46		tier1	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	9.80		SNP	1.000	T	5	46
GPX8	493869	genome.wustl.edu	37	5	54456137	54456137	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:54456137C>T	ENST00000503787.1	+	1	192	c.117C>T	c.(115-117)ttC>ttT	p.F39F	GPX8_ENST00000515370.1_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_Silent_p.F39F|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000506123.1_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000381375.2_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	39					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AACTAAAATTCCTCAAACCTA	0.383													ENSG00000164294																																					0													108.0	105.0	106.0					5																	54456137		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.117C>T	5.37:g.54456137C>T				Silent	SNP	pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	p.F39	ENST00000503787.1	37	c.117	CCDS34156.1	5																																																																																			-	GPX8	-	pirsf_Glutathione_peroxidase		0.383	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	HGNC	protein_coding	OTTHUMT00000369717.1	0	0		68	68		0.00		C	NM_001008397		54456137	+1	29		37		tier1	no_errors	ENST00000503787	ensembl	human	known	74_37	silent	43.94		SNP	0.996	T	29	37
LINC00657	647979	genome.wustl.edu	37	20	34638437	34638437	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34638437C>T	ENST00000565493.1	-	0	445					NR_027451.1				long intergenic non-protein coding RNA 657																		CTGCTTGCGTCCCTAGGCCGC	0.711													ENSG00000260032																																					0																																												0			-	AI619767, AK090641, BC011592		20q11.23	2012-10-12			ENSG00000260032	ENSG00000260032		"""Long non-coding RNAs"""	44311	non-coding RNA	RNA, long non-coding							Standard	NR_027451		Approved		uc002xet.3		OTTHUMG00000175580		20.37:g.34638437C>T				R	SNP	-	NULL	ENST00000565493.1	37	NULL		20																																																																																			-	LINC00657	-	-		0.711	LINC00657-001	KNOWN	basic	lincRNA	LINC00657	HGNC	lincRNA	OTTHUMT00000430538.1	0	0		36	36		0.00		C	NR_027451		34638437	-1	16		20		tier1	no_errors	ENST00000565493	ensembl	human	known	74_37	rna	44.44		SNP	0.001	T	16	20
RERE	473	genome.wustl.edu	37	1	8601375	8601375	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:8601375C>T	ENST00000337907.3	-	8	1362	c.728G>A	c.(727-729)gGg>gAg	p.G243E	RERE_ENST00000400907.2_Missense_Mutation_p.G243E|RERE_ENST00000400908.2_Missense_Mutation_p.G243E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	243	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTACACTTCCCTCTGGGAAA	0.398													ENSG00000142599																																					0													63.0	73.0	69.0					1																	8601375		2202	4299	6501	SO:0001583	missense	0			-	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.728G>A	1.37:g.8601375C>T	ENSP00000338629:p.Gly243Glu		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.G243E	ENST00000337907.3	37	c.728	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512509	0.85389	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	D;D;D	0.88509	-2.39;-2.39;-2.39	5.78	5.78	0.91487	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.94434	0.8209	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94531	0.7736	9	0.87932	D	0	-18.7931	18.5762	0.91155	0.0:1.0:0.0:0.0	.	243	Q9P2R6	RERE_HUMAN	E	243	ENSP00000338629:G243E;ENSP00000383699:G243E;ENSP00000383700:G243E	ENSP00000338629:G243E	G	-	2	0	RERE	8523962	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.629000	0.83207	2.749000	0.94314	0.655000	0.94253	GGG	-	RERE	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.398	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	0	0		42	42		0.00		C			8601375	-1	21		19		tier1	no_errors	ENST00000337907	ensembl	human	known	74_37	missense	52.50		SNP	1.000	T	21	19
FBN2	2201	genome.wustl.edu	37	5	127674749	127674749	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:127674749G>A	ENST00000508053.1	-	32	4322	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000508989.1_Silent_p.I1083I|FBN2_ENST00000262464.4_Silent_p.I1116I			P35556	FBN2_HUMAN	fibrillin 2	1116	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCACTCGTCGATGTCTAATT	0.458													ENSG00000138829																																					0													73.0	67.0	69.0					5																	127674749		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3348C>T	5.37:g.127674749G>A			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.I1116	ENST00000508053.1	37	c.3348	CCDS34222.1	5																																																																																			-	FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	0	0		41	41		0.00		G	NM_001999		127674749	-1	14		38		tier1	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	26.92		SNP	0.922	A	14	38
LRRC56	115399	genome.wustl.edu	37	11	541617	541617	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:541617G>A	ENST00000270115.7	+	5	758	c.258G>A	c.(256-258)ggG>ggA	p.G86G		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	86										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCCTGGGGAACTTTGGTG	0.622													ENSG00000161328																																					0													147.0	127.0	134.0					11																	541617		2203	4299	6502	SO:0001819	synonymous_variant	0			-		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.258G>A	11.37:g.541617G>A			Q8N3Q4	Silent	SNP	NULL	p.G86	ENST00000270115.7	37	c.258	CCDS7700.1	11																																																																																			-	LRRC56	-	NULL		0.622	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	0	0		26	26		0.00		G	NM_198075		541617	+1	20		25		tier1	no_errors	ENST00000270115	ensembl	human	known	74_37	silent	44.44		SNP	0.992	A	20	25
ZNF570	148268	genome.wustl.edu	37	19	37974812	37974812	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:37974812A>T	ENST00000330173.1	+	5	817	c.288A>T	c.(286-288)ttA>ttT	p.L96F	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.L152F	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	96					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)			CTGAAGAATTAACCCCAAAGC	0.338													ENSG00000171827																																					0													83.0	91.0	88.0					19																	37974812		2200	4299	6499	SO:0001583	missense	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.288A>T	19.37:g.37974812A>T	ENSP00000331540:p.Leu96Phe		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.L96F	ENST00000330173.1	37	c.288	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	A	5.025	0.190227	0.09547	.	.	ENSG00000171827	ENST00000330173	T	0.05025	3.51	4.96	2.84	0.33178	.	0.000000	0.26955	N	0.021646	T	0.04003	0.0112	N	0.25957	0.775	0.21325	N	0.999729	B	0.02656	0.0	B	0.04013	0.001	T	0.44697	-0.9311	10	0.20046	T	0.44	.	5.2859	0.15700	0.7562:0.0:0.0872:0.1566	.	96	Q96NI8	ZN570_HUMAN	F	96	ENSP00000331540:L96F	ENSP00000331540:L96F	L	+	3	2	ZNF570	42666652	0.000000	0.05858	0.126000	0.21872	0.918000	0.54935	-0.043000	0.12043	0.350000	0.24002	0.455000	0.32223	TTA	-	ZNF570	-	NULL		0.338	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	0	0		86	86		0.00		A	NM_144694		37974812	+1	38		50		tier1	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	43.18		SNP	0.016	T	38	50
SORCS3	22986	genome.wustl.edu	37	10	107016627	107016627	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:107016627C>T	ENST00000369701.3	+	25	3615	c.3388C>T	c.(3388-3390)Cta>Tta	p.L1130L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1130					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)	p.L1130L(1)		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)		CATGCTTATGCTATTATCAGT	0.428													ENSG00000156395																									NSCLC(116;1497 1690 7108 13108 14106)												1	Substitution - coding silent(1)	large_intestine(1)											175.0	149.0	158.0					10																	107016627		2203	4300	6503	SO:0001819	synonymous_variant	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.3388C>T	10.37:g.107016627C>T			Q5VXF9|Q9NQJ2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L1130	ENST00000369701.3	37	c.3388	CCDS7558.1	10																																																																																			-	SORCS3	-	NULL		0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	0	0		76	76		0.00		C	NM_014978		107016627	+1	24		43		tier1	no_errors	ENST00000369701	ensembl	human	known	74_37	silent	35.82		SNP	1.000	T	24	43
ZNF541	84215	genome.wustl.edu	37	19	48048923	48048923	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:48048923G>A	ENST00000391901.3	-	3	862	c.863C>T	c.(862-864)cCt>cTt	p.P288L	ZNF541_ENST00000314121.4_Missense_Mutation_p.P288L|ZNF541_ENST00000448976.1_Missense_Mutation_p.P288L			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	288					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						GCCAGGAGAAGGGGTCTTCTG	0.716													ENSG00000118156																																					0													15.0	19.0	18.0					19																	48048923		691	1591	2282	SO:0001583	missense	0			-	AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.863C>T	19.37:g.48048923G>A	ENSP00000375770:p.Pro288Leu		Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.P288L	ENST00000391901.3	37	c.863		19	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246117	0.39697	.	.	ENSG00000118156	ENST00000391901;ENST00000314121;ENST00000448976	T;T;T	0.17854	2.34;2.28;2.25	5.03	4.0	0.46444	.	.	.	.	.	T	0.20901	0.0503	L	0.27053	0.805	0.21386	N	0.999708	B;D;P	0.53312	0.084;0.959;0.893	B;P;P	0.51615	0.07;0.675;0.466	T	0.07214	-1.0784	9	0.66056	D	0.02	-11.2536	12.9654	0.58481	0.0:0.163:0.837:0.0	.	288;288;288	Q9H0D2;Q9H0D2-2;Q9H0D2-3	ZN541_HUMAN;.;.	L	288	ENSP00000375770:P288L;ENSP00000313258:P288L;ENSP00000410847:P288L	ENSP00000313258:P288L	P	-	2	0	ZNF541	52740735	0.995000	0.38212	0.288000	0.24862	0.880000	0.50808	3.428000	0.52792	1.360000	0.45960	-0.218000	0.12543	CCT	-	ZNF541	-	NULL		0.716	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	0	0		30	30		0.00		G	NM_032255		48048923	-1	9		28		tier1	no_errors	ENST00000314121	ensembl	human	known	74_37	missense	24.32		SNP	0.221	A	9	28
KIAA1755	85449	genome.wustl.edu	37	20	36846744	36846744	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:36846744C>T	ENST00000279024.4	-	12	2852	c.2581G>A	c.(2581-2583)Gga>Aga	p.G861R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	861										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)				CACCGCCTTCCTTCCTGCTCC	0.577													ENSG00000149633																																					0													66.0	59.0	61.0					20																	36846744		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.2581G>A	20.37:g.36846744C>T	ENSP00000279024:p.Gly861Arg		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.G861R	ENST00000279024.4	37	c.2581	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952087	0.73787	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.33438	2.65;1.41	4.91	4.91	0.64330	.	0.150805	0.30879	N	0.008695	T	0.57725	0.2073	M	0.79805	2.47	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60352	-0.7280	10	0.49607	T	0.09	.	15.6338	0.76933	0.0:1.0:0.0:0.0	.	861;369	Q5JYT7;E9PFS1	K1755_HUMAN;.	R	861;369;160	ENSP00000279024:G861R;ENSP00000393503:G160R	ENSP00000279024:G861R	G	-	1	0	KIAA1755	36280158	0.997000	0.39634	0.994000	0.49952	0.752000	0.42762	4.057000	0.57455	2.538000	0.85594	0.561000	0.74099	GGA	-	KIAA1755	-	NULL		0.577	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	0	0		55	55		0.00		C	NM_001029864		36846744	-1	20		49		tier1	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	28.99		SNP	0.994	T	20	49
CDH4	1002	genome.wustl.edu	37	20	60348069	60348069	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:60348069G>A	ENST00000360469.5	+	4	495	c.407G>A	c.(406-408)gGa>gAa	p.G136E	CDH4_ENST00000543233.1_Missense_Mutation_p.G62E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	136					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGCAGAAAGGAAAGAAGGTC	0.572													ENSG00000179242																																					0													39.0	40.0	40.0					20																	60348069		2203	4300	6503	SO:0001583	missense	0			-	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.407G>A	20.37:g.60348069G>A	ENSP00000353656:p.Gly136Glu		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.G136E	ENST00000360469.5	37	c.407	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.502197	0.00157	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53857	0.6;0.6	4.84	2.88	0.33553	Cadherin-like (1);	1.143940	0.06484	N	0.733313	T	0.33235	0.0856	N	0.08118	0	0.23336	N	0.997886	B	0.12630	0.006	B	0.10450	0.005	T	0.22977	-1.0201	9	.	.	.	.	10.0532	0.42228	0.0758:0.1384:0.7858:0.0	.	136	P55283	CADH4_HUMAN	E	136;44;62	ENSP00000353656:G136E;ENSP00000443301:G62E	.	G	+	2	0	CDH4	59781464	0.964000	0.33143	0.446000	0.26920	0.002000	0.02628	1.656000	0.37355	0.452000	0.26830	-0.844000	0.03045	GGA	-	CDH4	-	superfamily_Cadherin-like		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	0	0		44	44		0.00		G	NM_001794		60348069	+1	7		38		tier1	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	15.56		SNP	0.215	A	7	38
CCDC134	79879	genome.wustl.edu	37	22	42205974	42205974	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:42205974C>T	ENST00000255784.5	+	3	299	c.195C>T	c.(193-195)atC>atT	p.I65I	CCDC134_ENST00000402061.3_Silent_p.I65I	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	65						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGTACAAGATCCTTGATGTCA	0.542													ENSG00000100147																																					0													75.0	65.0	69.0					22																	42205974		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.195C>T	22.37:g.42205974C>T				Silent	SNP	NULL	p.I65	ENST00000255784.5	37	c.195	CCDS33654.1	22																																																																																			-	CCDC134	-	NULL		0.542	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC134	HGNC	protein_coding	OTTHUMT00000321964.1	0	0		45	45		0.00		C	NM_024821		42205974	+1	18		34		tier1	no_errors	ENST00000255784	ensembl	human	known	74_37	silent	34.62		SNP	1.000	T	18	34
KCNK5	8645	genome.wustl.edu	37	6	39162039	39162039	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:39162039G>A	ENST00000359534.3	-	4	878	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	180					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572													ENSG00000164626																																					0													160.0	127.0	138.0					6																	39162039		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.540C>T	6.37:g.39162039G>A			B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.F180	ENST00000359534.3	37	c.540	CCDS4841.1	6																																																																																			-	KCNK5	-	pfam_2pore_dom_K_chnl_dom		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	0	0		59	59		0.00		G	NM_003740		39162039	-1	14		64		tier1	no_errors	ENST00000359534	ensembl	human	known	74_37	silent	17.95		SNP	0.996	A	14	64
STIL	6491	genome.wustl.edu	37	1	47746546	47746546	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47746546A>G	ENST00000360380.3	-	13	1947	c.1584T>C	c.(1582-1584)aaT>aaC	p.N528N	STIL_ENST00000243182.6_Silent_p.N528N|STIL_ENST00000337817.5_Silent_p.N528N|STIL_ENST00000371877.3_Silent_p.N528N|STIL_ENST00000396221.2_Silent_p.N528N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	528					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GAGATGGCCCATTATGAGAAG	0.408													ENSG00000123473																																					0													125.0	128.0	127.0					1																	47746546		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1584T>C	1.37:g.47746546A>G			Q5T0C5|Q68CN9	Silent	SNP	NULL	p.N528	ENST00000360380.3	37	c.1584	CCDS548.1	1																																																																																			-	STIL	-	NULL		0.408	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	0	0		55	55		0.00		A	NM_003035		47746546	-1	17		52		tier1	no_errors	ENST00000371877	ensembl	human	known	74_37	silent	24.64		SNP	0.002	G	17	52
HECTD4	283450	genome.wustl.edu	37	12	112630518	112630518	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:112630518G>A	ENST00000430131.2	-	58	9017	c.7872C>T	c.(7870-7872)ggC>ggT	p.G2624G	HECTD4_ENST00000377560.5_Silent_p.G2874G|HECTD4_ENST00000550722.1_Silent_p.G2900G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2624					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)										TCACTTTGTGGCCGAGGCCAT	0.617													ENSG00000173064																																					0													24.0	28.0	27.0					12																	112630518		2015	4175	6190	SO:0001819	synonymous_variant	0			-	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7872C>T	12.37:g.112630518G>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.G2874	ENST00000430131.2	37	c.8622		12																																																																																			-	HECTD4	-	NULL		0.617	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		0	0		42	42		0.00		G	NM_173813		112630518	-1	11		26		tier1	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	29.73		SNP	0.999	A	11	26
LRRC8D	55144	genome.wustl.edu	37	1	90400617	90400617	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:90400617G>C	ENST00000337338.5	+	3	2397	c.1990G>C	c.(1990-1992)Gat>Cat	p.D664H	LRRC8D_ENST00000394593.3_Missense_Mutation_p.D664H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	664					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACAGGAACTGGATTTAAAGTC	0.368													ENSG00000171492																																					0													65.0	66.0	66.0					1																	90400617		2203	4300	6503	SO:0001583	missense	0			-	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1990G>C	1.37:g.90400617G>C	ENSP00000338887:p.Asp664His		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D664H	ENST00000337338.5	37	c.1990	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568740	0.65765	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.61392	0.11;0.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62987	-0.6737	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	664	Q7L1W4	LRC8D_HUMAN	H	664	ENSP00000338887:D664H;ENSP00000378093:D664H	.	D	+	1	0	LRRC8D	90173205	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.912000	0.87465	2.884000	0.98904	0.655000	0.94253	GAT	-	LRRC8D	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.368	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	0	0		79	79		0.00		G	NM_018103		90400617	+1	32		35		tier1	no_errors	ENST00000337338	ensembl	human	known	74_37	missense	47.76		SNP	1.000	C	32	35
HDGFL1	154150	genome.wustl.edu	37	6	22570533	22570533	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:22570533G>A	ENST00000230012.3	+	1	856	c.729G>A	c.(727-729)ccG>ccA	p.P243P	HDGFL1_ENST00000510882.2_Silent_p.P243P	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	243										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CCGAGGCACCGGGCGGCGGAG	0.682													ENSG00000112273																																					0													7.0	10.0	9.0					6																	22570533		2150	4233	6383	SO:0001819	synonymous_variant	0			-	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.729G>A	6.37:g.22570533G>A			Q96MJ6	Silent	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.P243	ENST00000230012.3	37	c.729	CCDS34347.1	6																																																																																			-	HDGFL1	-	NULL		0.682	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFL1	HGNC	protein_coding	OTTHUMT00000043500.1	0	0		22	22		0.00		G	NM_138574		22570533	+1	12		53		tier1	no_errors	ENST00000230012	ensembl	human	known	74_37	silent	18.46		SNP	0.000	A	12	53
TMBIM4	51643	genome.wustl.edu	37	12	66531763	66531763	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:66531763G>A	ENST00000358230.3	-	7	814	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	TMBIM4_ENST00000286424.7_Silent_p.L279L|TMBIM4_ENST00000542724.1_Silent_p.L201L|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000544599.1_Silent_p.L55L|TMBIM4_ENST00000539652.1_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	232					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ACTGCTTCCAGAAACCGTAAC	0.353													ENSG00000155957																																					0													108.0	103.0	104.0					12																	66531763		1858	4090	5948	SO:0001819	synonymous_variant	0			-	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.694C>T	12.37:g.66531763G>A			Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP	pfam_Bax_inhibitor_1-related	p.L232	ENST00000358230.3	37	c.694	CCDS41805.1	12																																																																																			-	TMBIM4	-	pfam_Bax_inhibitor_1-related		0.353	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	0	0		66	66		0.00		G	NM_016056		66531763	-1	20		43		tier1	no_errors	ENST00000358230	ensembl	human	known	74_37	silent	31.75		SNP	0.449	A	20	43
POU6F2	11281	genome.wustl.edu	37	7	39491226	39491226	+	Missense_Mutation	SNP	C	C	T	rs202234462		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:39491226C>T	ENST00000403058.1	+	9	1482	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	POU6F2_ENST00000559001.1_Missense_Mutation_p.P388L|POU6F2_ENST00000518318.2_Missense_Mutation_p.P443L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	443	Gln-rich.|Ser-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTCAAAGTCCCGTCCGGCAG	0.552													ENSG00000106536	C|||	1	0.000199681	0.0	0.0014	5008	,	,		17026	0.0		0.0	False		,,,				2504	0.0																0													108.0	85.0	93.0					7																	39491226		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1328C>T	7.37:g.39491226C>T	ENSP00000384004:p.Pro443Leu		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_D-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P443L	ENST00000403058.1	37	c.1328	CCDS34620.2	7	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.84	3.901367	0.72754	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.87334	0.86;-2.24	5.7	5.7	0.88788	.	3.754190	0.00649	N	0.000554	D	0.91153	0.7214	L	0.27053	0.805	0.58432	D	0.999999	D	0.69078	0.997	P	0.60789	0.879	T	0.78758	-0.2079	10	0.56958	D	0.05	.	18.8293	0.92132	0.0:1.0:0.0:0.0	.	443	P78424	PO6F2_HUMAN	L	443	ENSP00000384004:P443L;ENSP00000430514:P443L	ENSP00000384004:P443L	P	+	2	0	POU6F2	39457751	1.000000	0.71417	0.998000	0.56505	1.000000	0.99986	5.560000	0.67332	2.683000	0.91414	0.655000	0.94253	CCC	rs202234462	POU6F2	-	NULL		0.552	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	0	0		53	53		0.00		C	NM_007252		39491226	+1	16		73		tier1	no_errors	ENST00000403058	ensembl	human	known	74_37	missense	17.98		SNP	0.999	T	16	73
DEFB119	245932	genome.wustl.edu	37	20	29976941	29976941	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:29976941G>A	ENST00000376321.3	-	1	181				DEFB119_ENST00000376315.2_Missense_Mutation_p.P52S|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAACGACTAGGAACACAGCAC	0.453													ENSG00000180483																																					0													198.0	170.0	180.0					20																	29976941		2203	4300	6503	SO:0001627	intron_variant	0			-	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1284C>T	20.37:g.29976941G>A			Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	superfamily_Scorpion_toxin-like	p.P52S	ENST00000376321.3	37	c.154	CCDS13178.1	20	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903764	0.92035	.	.	ENSG00000180483	ENST00000376315	T	0.30981	1.51	3.49	3.49	0.39957	.	1.726480	0.03263	N	0.183560	T	0.46814	0.1412	.	.	.	0.23975	N	0.996297	D	0.61080	0.989	P	0.55923	0.787	T	0.37407	-0.9707	9	0.59425	D	0.04	-0.4087	10.7899	0.46426	0.0:0.0:1.0:0.0	.	52	Q8N690-2	.	S	52	ENSP00000365492:P52S	ENSP00000365492:P52S	P	-	1	0	DEFB119	29440602	0.916000	0.31088	0.908000	0.35775	0.982000	0.71751	3.324000	0.52022	2.263000	0.75096	0.563000	0.77884	CCT	-	DEFB119	-	superfamily_Scorpion_toxin-like		0.453	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB119	HGNC	protein_coding	OTTHUMT00000078514.1	0	0		103	103		0.00		G	NM_153289		29976941	-1	56		100		tier1	no_errors	ENST00000376315	ensembl	human	known	74_37	missense	35.90		SNP	0.906	A	56	100
PRG4	10216	genome.wustl.edu	37	1	186276984	186276984	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:186276984G>A	ENST00000445192.2	+	7	2178	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	PRG4_ENST00000367483.4_Silent_p.G670G|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.G668G|PRG4_ENST00000367485.4_Silent_p.G618G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	711	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCCTAAAGGGACTGCTCCAA	0.587													ENSG00000116690																																					0													164.0	177.0	172.0					1																	186276984		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2133G>A	1.37:g.186276984G>A			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.G711	ENST00000445192.2	37	c.2133	CCDS1369.1	1																																																																																			-	PRG4	-	NULL		0.587	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	0	0		134	134		0.00		G	NM_005807		186276984	+1	91		127		tier1	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	41.74		SNP	0.001	A	91	127
HCFC1	3054	genome.wustl.edu	37	X	153219588	153219588	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:153219588G>A	ENST00000310441.7	-	17	5228	c.4262C>T	c.(4261-4263)cCc>cTc	p.P1421L	HCFC1_ENST00000354233.3_Missense_Mutation_p.P1352L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P1421L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1421					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTCACAGGGGGGGTTGGA	0.632													ENSG00000172534																																					0													42.0	46.0	44.0					X																	153219588		2101	4187	6288	SO:0001583	missense	0			-		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4262C>T	X.37:g.153219588G>A	ENSP00000309555:p.Pro1421Leu		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.P1421L	ENST00000310441.7	37	c.4262	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792052	0.90453	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.06142	3.34;3.36;3.34	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00042	-1.2230	10	0.72032	D	0.01	.	18.015	0.89236	0.0:0.0:1.0:0.0	.	1421	P51610	HCFC1_HUMAN	L	1421;1421;1352	ENSP00000309555:P1421L;ENSP00000359001:P1421L;ENSP00000346174:P1352L	ENSP00000309555:P1421L	P	-	2	0	HCFC1	152872782	1.000000	0.71417	0.684000	0.30055	0.962000	0.63368	8.701000	0.91331	2.531000	0.85337	0.600000	0.82982	CCC	-	HCFC1	-	NULL		0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	0	0		27	27		0.00		G	NM_005334		153219588	-1	10		25		tier1	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	28.57		SNP	1.000	A	10	25
ECE2	9718	genome.wustl.edu	37	3	183994375	183994375	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183994375C>T	ENST00000402825.3	+	3	480				ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.P49L|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_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)			GGGGCTTCCCCTTTCTCACCA	0.687													ENSG00000145194																																					0													17.0	20.0	19.0					3																	183994375		1966	4130	6096	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.481-305C>T	3.37:g.183994375C>T			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.P49L	ENST00000402825.3	37	c.146	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621520	0.46736	.	.	ENSG00000145194	ENST00000357474	D	0.81659	-1.52	3.36	1.42	0.22433	.	1.045000	0.07803	U	0.956839	T	0.59569	0.2203	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44421	-0.9329	9	.	.	.	.	5.4005	0.16293	0.0:0.6673:0.2082:0.1246	.	49;49	B7Z1P1;O60344-5	.;.	L	49	ENSP00000350066:P49L	.	P	+	2	0	ECE2	185477069	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	-0.110000	0.10824	0.366000	0.24427	0.462000	0.41574	CCT	-	ECE2	-	NULL		0.687	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	0	0		28	28		0.00		C	NM_014693		183994375	+1	23		37		tier1	no_errors	ENST00000357474	ensembl	human	novel	74_37	missense	38.33		SNP	0.071	T	23	37
RANBP3	8498	genome.wustl.edu	37	19	5941824	5941824	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5941824G>A	ENST00000340578.6	-	4	362	c.305C>T	c.(304-306)cCt>cTt	p.P102L	RANBP3_ENST00000034275.8_Missense_Mutation_p.P34L|RANBP3_ENST00000439268.2_Missense_Mutation_p.P102L|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000541471.1_Intron|RANBP3_ENST00000591092.1_Missense_Mutation_p.P34L	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	102					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCCGCCTTCAGGACTGGAGCC	0.527													ENSG00000031823																																					0													65.0	68.0	67.0					19																	5941824		2007	4191	6198	SO:0001583	missense	0			-	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.305C>T	19.37:g.5941824G>A	ENSP00000341483:p.Pro102Leu		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.P102L	ENST00000340578.6	37	c.305	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603435	0.87157	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807	T;T;T	0.37752	1.18;1.18;2.24	5.2	5.2	0.72013	.	0.170905	0.51477	D	0.000085	T	0.42268	0.1195	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.61697	0.982;0.99;0.99;0.982	P;P;P;P	0.61592	0.723;0.857;0.891;0.781	T	0.15350	-1.0440	10	0.26408	T	0.33	-16.3768	16.2358	0.82375	0.0:0.0:1.0:0.0	.	34;34;102;102	B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;RANB3_HUMAN	L	102;102;34;33	ENSP00000341483:P102L;ENSP00000404837:P102L;ENSP00000034275:P34L	ENSP00000034275:P34L	P	-	2	0	RANBP3	5892824	1.000000	0.71417	0.983000	0.44433	0.935000	0.57460	8.218000	0.89768	2.429000	0.82318	0.655000	0.94253	CCT	-	RANBP3	-	NULL		0.527	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	0	0		32	32		0.00		G	NM_007322		5941824	-1	10		38		tier1	no_errors	ENST00000340578	ensembl	human	known	74_37	missense	20.83		SNP	1.000	A	10	38
CNTN4	152330	genome.wustl.edu	37	3	3084769	3084769	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:3084769C>T	ENST00000397461.1	+	21	3004	c.2620C>T	c.(2620-2622)Cac>Tac	p.H874Y	CNTN4_ENST00000427331.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000358480.3_Missense_Mutation_p.H655Y|CNTN4_ENST00000397459.2_Missense_Mutation_p.H546Y|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000448906.2_Missense_Mutation_p.H546Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	874	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.H546Y(1)|p.H874Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGCTGTATCACTTAGCTGT	0.418													ENSG00000144619																																					2	Substitution - Missense(2)	lung(2)											110.0	103.0	106.0					3																	3084769		2203	4300	6503	SO:0001583	missense	0			-	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2620C>T	3.37:g.3084769C>T	ENSP00000380602:p.His874Tyr		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H874Y	ENST00000397461.1	37	c.2620	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599616	0.13939	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.195957	0.45606	D	0.000348	T	0.30947	0.0781	N	0.03268	-0.37	0.49389	D	0.999782	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.002	T	0.14172	-1.0482	9	.	.	.	.	18.7333	0.91744	0.0:1.0:0.0:0.0	.	873;874	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	Y	874;874;874;655;546;546	ENSP00000396010:H874Y;ENSP00000380602:H874Y;ENSP00000413642:H874Y;ENSP00000351267:H655Y;ENSP00000380600:H546Y;ENSP00000392077:H546Y	.	H	+	1	0	CNTN4	3059769	0.999000	0.42202	0.799000	0.32177	0.992000	0.81027	2.899000	0.48679	2.503000	0.84419	0.655000	0.94253	CAC	-	CNTN4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	0	0		39	39		0.00		C			3084769	+1	6		20		tier1	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	23.08		SNP	1.000	T	6	20
ZNF445	353274	genome.wustl.edu	37	3	44496724	44496724	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:44496724G>A	ENST00000396077.2	-	3	665	c.318C>T	c.(316-318)atC>atT	p.I106I	ZNF445_ENST00000425708.2_Silent_p.I106I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCCCAGGCAGGATGCTCAGGA	0.617													ENSG00000185219																																					0													68.0	71.0	70.0					3																	44496724		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.318C>T	3.37:g.44496724G>A			Q3MJD1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.I106	ENST00000396077.2	37	c.318	CCDS2713.1	3																																																																																			-	ZNF445	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.617	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	0	0		70	70		0.00		G	NM_181489		44496724	-1	16		84		tier1	no_errors	ENST00000396077	ensembl	human	known	74_37	silent	16.00		SNP	1.000	A	16	84
ZNF668	79759	genome.wustl.edu	37	16	31075147	31075147	+	Missense_Mutation	SNP	G	G	A	rs550440138		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:31075147G>A	ENST00000538906.1	-	2	1418	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	ZNF668_ENST00000394983.2_Missense_Mutation_p.R212C|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000539836.3_Missense_Mutation_p.R235C|ZNF668_ENST00000426488.2_Missense_Mutation_p.R235C|ZNF668_ENST00000535577.1_Missense_Mutation_p.R212C|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.R212C	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	212					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCATGGTTGCGGAGGTCCTTG	0.662													ENSG00000167394																									Colon(181;1111 1980 5060 10512 25785)												0													14.0	15.0	14.0					16																	31075147		2194	4298	6492	SO:0001583	missense	0			-		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.634C>T	16.37:g.31075147G>A	ENSP00000440149:p.Arg212Cys		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R235C	ENST00000538906.1	37	c.703	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215947	0.58452	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.215877	0.40469	N	0.001087	T	0.53061	0.1773	M	0.69523	2.12	0.46499	D	0.999075	D	0.76494	0.999	D	0.63793	0.918	T	0.52726	-0.8537	10	0.49607	T	0.09	-48.634	9.5656	0.39396	0.0926:0.0:0.9074:0.0	.	212	Q96K58	ZN668_HUMAN	C	235;212;212;212;212	ENSP00000442573:R235C;ENSP00000441349:R212C;ENSP00000440149:R212C;ENSP00000378434:R212C;ENSP00000300849:R212C	ENSP00000300849:R212C	R	-	1	0	ZNF668	30982648	0.981000	0.34729	0.826000	0.32828	0.393000	0.30537	4.653000	0.61462	2.694000	0.91930	0.555000	0.69702	CGC	-	ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	0	0		29	29		0.00		G	NM_024706		31075147	-1	29		29		tier1	no_errors	ENST00000426488	ensembl	human	known	74_37	missense	50.00		SNP	0.714	A	29	29
BSN	8927	genome.wustl.edu	37	3	49698615	49698615	+	Missense_Mutation	SNP	C	C	T	rs377523782		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49698615C>T	ENST00000296452.4	+	6	9451	c.9337C>T	c.(9337-9339)Cgc>Tgc	p.R3113C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3113					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R3113C(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAGGCTTTCCGCCCCACAGG	0.642													ENSG00000164061																																					1	Substitution - Missense(1)	ovary(1)						C	CYS/ARG	0,4406		0,0,2203	44.0	41.0	42.0		9337	4.4	1.0	3		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	BSN	NM_003458.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3113/3927	49698615	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9337C>T	3.37:g.49698615C>T	ENSP00000296452:p.Arg3113Cys		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R3113C	ENST00000296452.4	37	c.9337	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	7.764	0.706037	0.15172	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.18502	2.21	5.27	4.4	0.53042	.	0.602886	0.17615	N	0.167938	T	0.16041	0.0386	L	0.36672	1.1	0.35751	D	0.819436	B	0.11235	0.004	B	0.08055	0.003	T	0.07290	-1.0780	10	0.72032	D	0.01	0.0	13.3283	0.60473	0.0:0.9226:0.0:0.0774	.	3113	Q9UPA5	BSN_HUMAN	C	3113	ENSP00000296452:R3113C	ENSP00000296452:R3113C	R	+	1	0	BSN	49673619	0.967000	0.33354	0.990000	0.47175	0.279000	0.26890	3.027000	0.49697	1.221000	0.43506	0.561000	0.74099	CGC	-	BSN	-	NULL		0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	0	0		25	25		0.00		C	NM_003458		49698615	+1	15		29		tier1	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	34.09		SNP	0.996	T	15	29
METTL21EP	121952	genome.wustl.edu	37	13	103547978	103547978	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:103547978C>T	ENST00000605100.1	+	0	1907					NR_026965.1		A6NDL7	MT21E_HUMAN	methyltransferase like 21E, pseudogene								methyltransferase activity (GO:0008168)										TTCCAGTTTCCCTAGCCTGAA	0.398													ENSG00000250878																																					0																																												0			-			13q33.1	2012-11-09	2012-11-09	2012-11-09	ENSG00000250878	ENSG00000250878			41948	pseudogene	pseudogene			"""methyltransferase like 21C pseudogene 1"""	METTL21CP1			Standard	NR_026965		Approved		uc001vpx.1	A6NDL7	OTTHUMG00000017312		13.37:g.103547978C>T				R	SNP	-	NULL	ENST00000605100.1	37	NULL		13																																																																																			-	METTL21EP	-	-		0.398	METTL21EP-002	KNOWN	basic	processed_transcript	METTL21EP	HGNC	pseudogene	OTTHUMT00000468255.1	0	0		40	40		0.00		C	NR_026965		103547978	+1	9		22		tier1	no_errors	ENST00000605100	ensembl	human	known	74_37	rna	29.03		SNP	1.000	T	9	22
HDGF	3068	genome.wustl.edu	37	1	156714910	156714910	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:156714910G>A	ENST00000357325.5	-	3	507	c.193C>T	c.(193-195)Cct>Tct	p.P65S	HDGF_ENST00000416666.2_Missense_Mutation_p.P33S|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000537739.1_Missense_Mutation_p.P65S|HDGF_ENST00000368206.5_Missense_Mutation_p.P81S|HDGF_ENST00000368209.5_Missense_Mutation_p.P58S	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	65	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TCCTCGTAAGGGAAGAGGTCT	0.577													ENSG00000143321																																					0													89.0	82.0	84.0					1																	156714910		2203	4300	6503	SO:0001583	missense	0			-	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.193C>T	1.37:g.156714910G>A	ENSP00000349878:p.Pro65Ser		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	pfam_PWWP_dom	p.P81S	ENST00000357325.5	37	c.241	CCDS1156.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117766	0.77323	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.51	4.51	0.55191	PWWP (3);	0.000000	0.85682	U	0.000000	D	0.85509	0.5713	M	0.88105	2.93	0.43489	D	0.995725	D;B;D;D;D	0.89917	1.0;0.395;1.0;1.0;0.967	D;P;D;D;P	0.74674	0.984;0.676;0.984;0.977;0.822	D	0.87938	0.2715	10	0.66056	D	0.02	-5.2808	14.8085	0.69977	0.0:0.0:1.0:0.0	.	33;65;81;58;65	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	S	65;58;65;33;81	ENSP00000349878:P65S;ENSP00000357192:P58S;ENSP00000443120:P65S;ENSP00000416752:P33S;ENSP00000357189:P81S	ENSP00000349878:P65S	P	-	1	0	HDGF	154981534	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.675000	0.84002	2.378000	0.81104	0.306000	0.20318	CCT	-	HDGF	-	pfam_PWWP_dom		0.577	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	0	0		62	62		0.00		G	NM_004494		156714910	-1	21		48		tier1	no_errors	ENST00000368206	ensembl	human	known	74_37	missense	30.43		SNP	1.000	A	21	48
CCDC38	120935	genome.wustl.edu	37	12	96310927	96310927	+	Missense_Mutation	SNP	G	G	A	rs542768194		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:96310927G>A	ENST00000344280.3	-	4	841	c.284C>T	c.(283-285)cCg>cTg	p.P95L	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	95										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTAGGAATCGGAGCAGGACC	0.388													ENSG00000165972	G|||	1	0.000199681	0.0	0.0014	5008	,	,		16407	0.0		0.0	False		,,,				2504	0.0																0													80.0	77.0	78.0					12																	96310927		2203	4300	6503	SO:0001583	missense	0			-	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.284C>T	12.37:g.96310927G>A	ENSP00000345470:p.Pro95Leu		Q8N835	Missense_Mutation	SNP	NULL	p.P95L	ENST00000344280.3	37	c.284	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.371863	0.00209	.	.	ENSG00000165972	ENST00000344280;ENST00000546947	T	0.27557	1.66	5.54	4.33	0.51752	.	0.083607	0.46442	N	0.000288	T	0.11580	0.0282	N	0.02247	-0.625	0.21105	N	0.999784	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.23891	T	0.37	-6.5776	8.0622	0.30640	0.9095:0.0:0.0905:0.0	.	95	Q502W7	CCD38_HUMAN	L	95;55	ENSP00000345470:P95L	ENSP00000345470:P95L	P	-	2	0	CCDC38	94835058	0.100000	0.21855	0.013000	0.15412	0.000000	0.00434	2.551000	0.45820	1.105000	0.41606	-0.300000	0.09419	CCG	-	CCDC38	-	NULL		0.388	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	0	0		121	121		0.00		G	NM_182496		96310927	-1	51		73		tier1	no_errors	ENST00000344280	ensembl	human	known	74_37	missense	41.13		SNP	0.013	A	51	73
ZCCHC2	54877	genome.wustl.edu	37	18	60237413	60237413	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:60237413C>T	ENST00000269499.5	+	12	2342	c.1924C>T	c.(1924-1926)Ccc>Tcc	p.P642S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P321S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	642						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCATCTAGTCCCCGACATGA	0.418													ENSG00000141664																																					0													57.0	55.0	56.0					18																	60237413		1856	4111	5967	SO:0001583	missense	0			-	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1924C>T	18.37:g.60237413C>T	ENSP00000269499:p.Pro642Ser		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.P642S	ENST00000269499.5	37	c.1924	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395690	0.83011	.	.	ENSG00000141664	ENST00000269499	T	0.36520	1.25	5.08	5.08	0.68730	.	0.076834	0.53938	D	0.000047	T	0.46946	0.1419	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.13469	-1.0508	10	0.10902	T	0.67	-14.596	19.0333	0.92967	0.0:1.0:0.0:0.0	.	642	Q9C0B9	ZCHC2_HUMAN	S	642	ENSP00000269499:P642S	ENSP00000269499:P642S	P	+	1	0	ZCCHC2	58388393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.245000	0.72398	2.793000	0.96121	0.655000	0.94253	CCC	-	ZCCHC2	-	NULL		0.418	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	0	0		45	45		0.00		C	NM_017742		60237413	+1	21		17		tier1	no_errors	ENST00000269499	ensembl	human	known	74_37	missense	55.26		SNP	1.000	T	21	17
GTF3C5	9328	genome.wustl.edu	37	9	135919222	135919222	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:135919222C>T	ENST00000372097.5	+	3	804	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	GTF3C5_ENST00000342018.8_Missense_Mutation_p.H161Y|GTF3C5_ENST00000372099.6_Missense_Mutation_p.H152Y|GTF3C5_ENST00000372095.5_Missense_Mutation_p.H36Y|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372108.5_Missense_Mutation_p.H161Y	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	161					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGCCTTTTTCCACCAGGAGCT	0.602													ENSG00000148308																																					0													91.0	89.0	90.0					9																	135919222		2203	4300	6503	SO:0001583	missense	0			-	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.481C>T	9.37:g.135919222C>T	ENSP00000361169:p.His161Tyr		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	pfam_TF_IIIC_su-5	p.H161Y	ENST00000372097.5	37	c.481	CCDS6958.1	9	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853664	0.71719	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.98	4.0	0.46444	.	0.270857	0.41712	D	0.000832	T	0.47451	0.1446	L	0.54323	1.7	0.35947	D	0.833605	D;P;P	0.54601	0.967;0.599;0.692	P;B;B	0.52066	0.689;0.245;0.359	T	0.59825	-0.7381	10	0.66056	D	0.02	5.0823	9.9932	0.41883	0.5832:0.4168:0.0:0.0	.	36;161;161	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8	.;.;TF3C5_HUMAN	Y	161;114;152;36;11;161;161;36	ENSP00000361169:H161Y;ENSP00000361171:H152Y;ENSP00000361180:H161Y;ENSP00000339530:H161Y	ENSP00000339530:H161Y	H	+	1	0	GTF3C5	134909043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.934000	0.48956	1.007000	0.39238	0.563000	0.77884	CAC	-	GTF3C5	-	pfam_TF_IIIC_su-5		0.602	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	0	0		40	40		0.00		C	NM_001122823		135919222	+1	24		42		tier1	no_errors	ENST00000372108	ensembl	human	known	74_37	missense	36.36		SNP	1.000	T	24	42
ANK1	286	genome.wustl.edu	37	8	41529933	41529933	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41529933C>T	ENST00000347528.4	-	38	5118	c.5035G>A	c.(5035-5037)Ggg>Agg	p.G1679R	ANK1_ENST00000396942.1_Missense_Mutation_p.G1679R|ANK1_ENST00000352337.4_Missense_Mutation_p.G1679R|ANK1_ENST00000289734.7_Missense_Mutation_p.G1679R|ANK1_ENST00000265709.8_Missense_Mutation_p.G1720R|ANK1_ENST00000379758.2_Missense_Mutation_p.G1679R|ANK1_ENST00000396945.1_Missense_Mutation_p.G1679R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1679	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGGCTTGCCCCCTCTGATGG	0.557													ENSG00000029534																																					0													151.0	135.0	140.0					8																	41529933		2203	4300	6503	SO:0001583	missense	0			-	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5035G>A	8.37:g.41529933C>T	ENSP00000339620:p.Gly1679Arg		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	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.G1679R	ENST00000347528.4	37	c.5035	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.09|10.09	1.254085|1.254085	0.22965|0.22965	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	.|T;T;T;T;T;T;T	.|0.26810	.|1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.24|5.24	4.35|4.35	0.52113|0.52113	.|.	0.128009|0.128009	0.51477|0.51477	D|D	0.000090|0.000090	T|T	0.13927|0.13927	0.0337|0.0337	N|N	0.08118|0.08118	0|0	0.27660|0.27660	N|N	0.94711|0.94711	.|B;B;B;B;B;B	.|0.11235	.|0.0;0.004;0.0;0.0;0.0;0.002	.|B;B;B;B;B;B	.|0.10450	.|0.0;0.001;0.001;0.005;0.0;0.001	T|T	0.12785|0.12785	-1.0534|-1.0534	6|10	.|0.16896	.|T	.|0.51	.|.	15.2259|15.2259	0.73352|0.73352	0.0:0.8587:0.1413:0.0|0.0:0.8587:0.1413:0.0	.|.	.|1720;1517;1679;1679;1679;833	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	E|R	838|1679;1679;1679;1679;1679;1679;1720	.|ENSP00000339620:G1679R;ENSP00000289734:G1679R;ENSP00000369082:G1679R;ENSP00000380149:G1679R;ENSP00000380147:G1679R;ENSP00000309131:G1679R;ENSP00000265709:G1720R	.|ENSP00000265709:G1720R	G|G	-|-	2|1	0|0	ANK1|ANK1	41649090|41649090	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.739000|0.739000	0.42172|0.42172	4.649000|4.649000	0.61433|0.61433	1.341000|1.341000	0.45600|0.45600	0.552000|0.552000	0.68991|0.68991	GGG|GGG	-	ANK1	-	NULL		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	0	0		38	38		0.00		C	NM_020475		41529933	-1	15		46		tier1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	24.59		SNP	1.000	T	15	46
TTN	7273	genome.wustl.edu	37	2	179452029	179452029	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179452029C>T	ENST00000591111.1	-	257	59210	c.58986G>A	c.(58984-58986)gtG>gtA	p.V19662V	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.V12363V|TTN_ENST00000460472.2_Silent_p.V12238V|TTN_ENST00000589042.1_Silent_p.V21303V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.V18735V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.V12430V			Q8WZ42	TITIN_HUMAN	titin	19662	Fibronectin type-III 42. {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)			CACGTTTCTCCACGATATAAT	0.453													ENSG00000155657																																					0													93.0	88.0	90.0					2																	179452029		1932	4137	6069	SO:0001819	synonymous_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.58986G>A	2.37:g.179452029C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	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.V18735	ENST00000591111.1	37	c.56205		2																																																																																			-	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		25	25		0.00		C	NM_133378		179452029	-1	4		22		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	15.38		SNP	1.000	T	4	22
AKAP8L	26993	genome.wustl.edu	37	19	15508397	15508397	+	Nonsense_Mutation	SNP	G	G	A	rs532848259		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:15508397G>A	ENST00000397410.5	-	11	1469	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	AKAP8L_ENST00000595465.2_Nonsense_Mutation_p.R386*|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	447						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACGGTTTTTCGGAGCTCCTCT	0.507													ENSG00000011243	g|||	1	0.000199681	0.0008	0.0	5008	,	,		20614	0.0		0.0	False		,,,				2504	0.0																0													159.0	153.0	155.0					19																	15508397		1976	4145	6121	SO:0001587	stop_gained	0			-	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1339C>T	19.37:g.15508397G>A	ENSP00000380557:p.Arg447*		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Nonsense_Mutation	SNP	pfam_AKAP95	p.R447*	ENST00000397410.5	37	c.1339	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	g	35	5.575906	0.96553	.	.	ENSG00000011243	ENST00000397410	.	.	.	5.26	3.12	0.35913	.	0.160739	0.43110	D	0.000613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5868	9.2154	0.37344	0.0772:0.0:0.7771:0.1457	.	.	.	.	X	447	.	ENSP00000380557:R447X	R	-	1	2	AKAP8L	15369397	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.140000	0.58031	0.604000	0.29930	0.556000	0.70494	CGA	-	AKAP8L	-	pfam_AKAP95		0.507	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	0	0		86	86		0.00		G	NM_014371		15508397	-1	51		68		tier1	no_errors	ENST00000397410	ensembl	human	known	74_37	nonsense	42.86		SNP	0.989	A	51	68
COL22A1	169044	genome.wustl.edu	37	8	139838954	139838954	+	Missense_Mutation	SNP	G	G	A	rs57718799	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:139838954G>A	ENST00000303045.6	-	6	1362	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R306W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	306	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTTCCTTCCGAGAGGTTTTC	0.507										HNSCC(7;0.00092)			ENSG00000169436																																					0													148.0	122.0	131.0					8																	139838954		2203	4300	6503	SO:0001583	missense	0			-	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.916C>T	8.37:g.139838954G>A	ENSP00000303153:p.Arg306Trp		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.R306W	ENST00000303045.6	37	c.916	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868373	0.72065	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.14022	2.54;2.54	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.44902	D	0.000420	T	0.33411	0.0862	M	0.68317	2.08	0.53005	D	0.999967	D	0.89917	1.0	D	0.87578	0.998	T	0.01541	-1.1329	9	.	.	.	.	11.6388	0.51220	0.0:0.0:0.7166:0.2834	.	306	Q8NFW1	COMA1_HUMAN	W	306	ENSP00000303153:R306W;ENSP00000387655:R306W	.	R	-	1	2	COL22A1	139908136	0.998000	0.40836	0.996000	0.52242	0.900000	0.52787	2.448000	0.44926	2.452000	0.82932	0.644000	0.83932	CGG	-	COL22A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	0	0		52	52		0.00		G	XM_291257		139838954	-1	9		66		tier1	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	12.00		SNP	0.994	A	9	66
CTC-228N24.1	0	genome.wustl.edu	37	5	127277084	127277084	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:127277084C>T	ENST00000514853.2	+	0	802																											GTCAAGGACCCTCCAGGATGT	0.453													ENSG00000230561																																					0																																												0			-																													5.37:g.127277084C>T				R	SNP	-	NULL	ENST00000514853.2	37	NULL		5																																																																																			-	CTC-228N24.1	-	-		0.453	CTC-228N24.1-001	KNOWN	not_organism_supported|basic	lincRNA	LOC728586	Clone_based_vega_gene	lincRNA	OTTHUMT00000372464.3	0	0		56	56		0.00		C			127277084	+1	48		65		tier1	no_errors	ENST00000513708	ensembl	human	known	74_37	rna	42.48		SNP	0.012	T	48	65
PEG3	5178	genome.wustl.edu	37	19	57326183	57326183	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57326183C>T	ENST00000326441.9	-	10	3990	c.3627G>A	c.(3625-3627)cgG>cgA	p.R1209R	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.R1209R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.R1083R|PEG3_ENST00000598410.1_Silent_p.R1085R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1209					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1209R(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACGATTCCTCCGTGGCTTCA	0.493													ENSG00000198300																																					2	Substitution - coding silent(2)	lung(2)											116.0	112.0	114.0					19																	57326183		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3627G>A	19.37:g.57326183C>T			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R1209	ENST00000326441.9	37	c.3627	CCDS12948.1	19																																																																																			-	PEG3	-	NULL		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	0	0		13	13		0.00		C			57326183	-1	5		14		tier1	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	26.32		SNP	0.002	T	5	14
ADCK5	203054	genome.wustl.edu	37	8	145616618	145616618	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145616618C>T	ENST00000308860.6	+	7	786	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	248	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTGGAGCTCCTGCTGCGGCT	0.637													ENSG00000173137																																					0													62.0	61.0	61.0					8																	145616618		2202	4300	6502	SO:0001819	synonymous_variant	0			-	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.742C>T	8.37:g.145616618C>T			B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.L248	ENST00000308860.6	37	c.742	CCDS34965.1	8																																																																																			-	ADCK5	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	0	0		82	82		0.00		C	NM_174922		145616618	+1	46		111		tier1	no_errors	ENST00000308860	ensembl	human	known	74_37	silent	29.11		SNP	1.000	T	46	111
MAPK12	6300	genome.wustl.edu	37	22	50691884	50691884	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:50691884G>A	ENST00000215659.8	-	12	1365	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	MAPK12_ENST00000395780.1_Silent_p.S260S|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_5'Flank|HDAC10_ENST00000216271.5_5'Flank|HDAC10_ENST00000349505.4_5'Flank|HDAC10_ENST00000498366.1_5'Flank	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	350					cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGCTTGAAGCTGAGCACCT	0.642													ENSG00000188130																																					0													11.0	10.0	10.0					22																	50691884		2107	4167	6274	SO:0001819	synonymous_variant	0			-	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.1050C>T	22.37:g.50691884G>A			Q14260|Q6IC53|Q99588|Q99672	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,prints_MAPK_p38	p.S350	ENST00000215659.8	37	c.1050	CCDS14089.1	22																																																																																			-	MAPK12	-	superfamily_Kinase-like_dom		0.642	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK12	HGNC	protein_coding	OTTHUMT00000074999.2	0	0		93	93		0.00		G	NM_002969		50691884	-1	43		85		tier1	no_errors	ENST00000215659	ensembl	human	known	74_37	silent	33.59		SNP	1.000	A	43	85
TLR9	54106	genome.wustl.edu	37	3	52256651	52256651	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52256651T>A	ENST00000360658.2	-	2	2314	c.1681A>T	c.(1681-1683)Atg>Ttg	p.M561L	TLR9_ENST00000494383.1_Missense_Mutation_p.H714L|TLR9_ENST00000597542.1_Missense_Mutation_p.M585L	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	561					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	ACGCCCTGCATGCCAAAGGGC	0.617													ENSG00000239732																																					0													53.0	46.0	48.0					3																	52256651		2203	4300	6503	SO:0001583	missense	0			-	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1681A>T	3.37:g.52256651T>A	ENSP00000353874:p.Met561Leu		B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.M585L	ENST00000360658.2	37	c.1753	CCDS2848.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.84|15.84	2.952176|2.952176	0.53293|0.53293	.|.	.|.	ENSG00000173366|ENSG00000239732	ENST00000494383|ENST00000360658	.|T	.|0.23147	.|1.92	5.39|5.39	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.50627	.|D	.|0.000119	T|T	0.12092|0.12092	0.0294|0.0294	N|N	0.05230|0.05230	-0.09|-0.09	0.37129|0.37129	D|D	0.901156|0.901156	.|P;P	.|0.47302	.|0.893;0.851	.|B;B	.|0.41946	.|0.371;0.293	T|T	0.13202|0.13202	-1.0518|-1.0518	5|9	.|.	.|.	.|.	.|.	9.534|9.534	0.39211|0.39211	0.0:0.0981:0.0:0.9019|0.0:0.0981:0.0:0.9019	.|.	.|658;561	.|B4E0A1;Q9NR96	.|.;TLR9_HUMAN	L|L	714|561	.|ENSP00000353874:M561L	.|.	H|M	-|-	2|1	0|0	RP11-330H6.5|TLR9	52231691|52231691	0.070000|0.070000	0.21116|0.21116	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.020000|1.020000	0.30027|0.30027	2.047000|2.047000	0.60756|0.60756	0.459000|0.459000	0.35465|0.35465	CAT|ATG	-	TLR9	-	NULL		0.617	TLR9-001	KNOWN	basic|CCDS	protein_coding	TLR9	HGNC	protein_coding	OTTHUMT00000350203.1	0	0		32	32		0.00		T			52256651	-1	9		16		tier1	no_errors	ENST00000597542	ensembl	human	known	74_37	missense	36.00		SNP	0.994	A	9	16
CPN2	1370	genome.wustl.edu	37	3	194063260	194063260	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:194063260C>T	ENST00000323830.3	-	2	261	c.172G>A	c.(172-174)Gag>Aag	p.E58K	CPN2_ENST00000429275.1_Missense_Mutation_p.E58K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	58					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AACGAGGTCTCCACAAAGATG	0.527													ENSG00000178772																																					0													154.0	141.0	146.0					3																	194063260		2203	4300	6503	SO:0001583	missense	0			-	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.172G>A	3.37:g.194063260C>T	ENSP00000319464:p.Glu58Lys		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E58K	ENST00000323830.3	37	c.172	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383673	0.42308	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.23950	1.88;1.88	5.19	4.31	0.51392	.	0.000000	0.38272	N	0.001759	T	0.23766	0.0575	L	0.48362	1.52	0.37505	D	0.916916	B	0.25390	0.125	B	0.22753	0.041	T	0.09015	-1.0694	10	0.29301	T	0.29	.	14.2312	0.65892	0.0:0.9275:0.0:0.0725	.	58	P22792	CPN2_HUMAN	K	58	ENSP00000319464:E58K;ENSP00000402232:E58K	ENSP00000319464:E58K	E	-	1	0	CPN2	195544955	0.876000	0.30132	0.990000	0.47175	0.480000	0.33159	1.571000	0.36450	1.327000	0.45338	0.561000	0.74099	GAG	-	CPN2	-	NULL		0.527	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	HGNC	protein_coding	OTTHUMT00000342856.2	0	0		35	35		0.00		C	NM_001080513		194063260	-1	21		33		tier1	no_errors	ENST00000323830	ensembl	human	known	74_37	missense	38.89		SNP	1.000	T	21	33
SORCS2	57537	genome.wustl.edu	37	4	7728597	7728597	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:7728597G>A	ENST00000507866.2	+	21	2945	c.2836G>A	c.(2836-2838)Gtg>Atg	p.V946M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V774M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	946					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGAACTCGGTGCTGCAGGA	0.637													ENSG00000184985																																					0													76.0	92.0	87.0					4																	7728597		2126	4203	6329	SO:0001583	missense	0			-	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2836G>A	4.37:g.7728597G>A	ENSP00000422185:p.Val946Met		Q9P2L7	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.V946M	ENST00000507866.2	37	c.2836	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	2.864	-0.235392	0.05983	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.15139	2.45;2.45	4.25	3.1	0.35709	.	0.181255	0.44483	D	0.000442	T	0.08802	0.0218	N	0.24115	0.695	0.25142	N	0.990499	B;B	0.16396	0.005;0.017	B;B	0.13407	0.006;0.009	T	0.15694	-1.0428	10	0.27785	T	0.31	.	3.2913	0.06950	0.4429:0.0:0.557:0.0	.	774;946	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	946;774	ENSP00000422185:V946M;ENSP00000329124:V774M	ENSP00000329124:V774M	V	+	1	0	SORCS2	7779497	1.000000	0.71417	0.914000	0.36105	0.068000	0.16541	4.814000	0.62627	2.090000	0.63153	0.454000	0.30748	GTG	-	SORCS2	-	superfamily_PKD_dom		0.637	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	0	0		42	42		0.00		G	NM_020777		7728597	+1	22		37		tier1	no_errors	ENST00000507866	ensembl	human	known	74_37	missense	36.67		SNP	0.950	A	22	37
RP13-228J13.1	0	genome.wustl.edu	37	X	154578932	154578932	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:154578932G>A	ENST00000412436.1	-	0	98				RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA																							TACATGGCAGGGAATGCTTCA	0.443													ENSG00000230578																																					0																																												0			-																													X.37:g.154578932G>A				R	SNP	-	NULL	ENST00000412436.1	37	NULL		X																																																																																			-	RP13-228J13.5	-	-		0.443	RP13-228J13.1-001	KNOWN	basic	antisense	ENSG00000230578	Clone_based_vega_gene	antisense	OTTHUMT00000058799.1	0	0		56	56		0.00		G			154578932	+1	8		48		tier1	no_errors	ENST00000453508	ensembl	human	known	74_37	rna	14.29		SNP	0.999	A	8	48
COL5A3	50509	genome.wustl.edu	37	19	10103505	10103505	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10103505G>A	ENST00000264828.3	-	21	1931	c.1846C>T	c.(1846-1848)Ccg>Tcg	p.P616S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	616	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACACTCACCGGGCGACCCGTG	0.592													ENSG00000080573																																					0													54.0	55.0	55.0					19																	10103505		2203	4300	6503	SO:0001583	missense	0			-	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1846C>T	19.37:g.10103505G>A	ENSP00000264828:p.Pro616Ser		Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P616S	ENST00000264828.3	37	c.1846	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709026	0.48517	.	.	ENSG00000080573	ENST00000264828	D	0.96587	-4.06	4.08	4.08	0.47627	.	0.161581	0.41396	D	0.000896	D	0.96021	0.8704	L	0.45744	1.44	0.43657	D	0.996074	D	0.62365	0.991	P	0.55667	0.781	D	0.95914	0.8925	10	0.56958	D	0.05	.	14.1766	0.65546	0.0:0.0:1.0:0.0	.	616	P25940	CO5A3_HUMAN	S	616	ENSP00000264828:P616S	ENSP00000264828:P616S	P	-	1	0	COL5A3	9964505	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	7.759000	0.85235	2.288000	0.76882	0.561000	0.74099	CCG	-	COL5A3	-	NULL		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	0	0		20	20		0.00		G	NM_015719		10103505	-1	22		34		tier1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	39.29		SNP	1.000	A	22	34
TBX22	50945	genome.wustl.edu	37	X	79286459	79286459	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:79286459C>T	ENST00000373294.5	+	8	1440	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TBX22_ENST00000373296.3_Missense_Mutation_p.S471F|TBX22_ENST00000442340.1_Missense_Mutation_p.S351F|TBX22_ENST00000373291.1_Missense_Mutation_p.S351F	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	471					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						TTTCATCCTTCCTATGACTTT	0.368													ENSG00000122145																																					0													104.0	95.0	98.0					X																	79286459		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.1412C>T	X.37:g.79286459C>T	ENSP00000362390:p.Ser471Phe		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S471F	ENST00000373294.5	37	c.1412	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472056	0.43942	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.87491	-2.26;-1.97;-2.26;-1.97	3.96	3.96	0.45880	.	1.390190	0.04482	N	0.377983	D	0.89276	0.6669	L	0.54323	1.7	0.29837	N	0.829568	P	0.49447	0.924	P	0.48030	0.564	T	0.80634	-0.1295	10	0.87932	D	0	.	13.8969	0.63778	0.0:1.0:0.0:0.0	.	471	Q9Y458	TBX22_HUMAN	F	471;351;471;351	ENSP00000362393:S471F;ENSP00000396394:S351F;ENSP00000362390:S471F;ENSP00000362388:S351F	ENSP00000362388:S351F	S	+	2	0	TBX22	79173115	1.000000	0.71417	0.677000	0.29947	0.277000	0.26821	5.462000	0.66707	1.813000	0.52934	0.513000	0.50165	TCC	-	TBX22	-	NULL		0.368	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	0	0		42	42		0.00		C	NM_016954		79286459	+1	22		9		tier1	no_errors	ENST00000373294	ensembl	human	known	74_37	missense	70.97		SNP	1.000	T	22	9
LINC00843	102902672	genome.wustl.edu	37	10	51732758	51732758	+	lincRNA	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:51732758T>C	ENST00000429104.1	+	0	236									long intergenic non-protein coding RNA 843																		TATTTTTGTTTTCATTGCTTT	0.403													ENSG00000178440																																					0																																												0			-	BC035067		10q11.23	2014-02-26			ENSG00000178440	ENSG00000178440		"""Long non-coding RNAs"""	45009	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000018218		10.37:g.51732758T>C				R	SNP	-	NULL	ENST00000429104.1	37	NULL		10																																																																																			-	LINC00843	-	-		0.403	LINC00843-002	KNOWN	basic	lincRNA	LINC00843	HGNC	lincRNA	OTTHUMT00000048056.1	0	0		32	32		0.00		T			51732758	+1	13		17		tier1	no_errors	ENST00000429104	ensembl	human	known	74_37	rna	43.33		SNP	0.137	C	13	17
GMDS	2762	genome.wustl.edu	37	6	1960165	1960165	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:1960165G>A	ENST00000380815.4	-	6	848	c.579C>T	c.(577-579)ttC>ttT	p.F193F	GMDS_ENST00000530927.1_Silent_p.F163F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	193					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACGCCTCACGGAAGTTCACCA	0.378													ENSG00000112699																																					0													81.0	79.0	80.0					6																	1960165		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.579C>T	6.37:g.1960165G>A			E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.F193	ENST00000380815.4	37	c.579	CCDS4474.1	6																																																																																			-	GMDS	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase		0.378	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	HGNC	protein_coding	OTTHUMT00000043380.3	0	0		61	61		0.00		G			1960165	-1	14		35		tier1	no_errors	ENST00000380815	ensembl	human	known	74_37	silent	28.57		SNP	1.000	A	14	35
NOTCH4	4855	genome.wustl.edu	37	6	32181931	32181931	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32181931G>A	ENST00000375023.3	-	13	2261	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	708	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGGCTGGGGGTAGCAGGT	0.612													ENSG00000204301																																					0													106.0	102.0	103.0					6																	32181931		2203	4300	6503	SO:0001583	missense	0			-		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2123C>T	6.37:g.32181931G>A	ENSP00000364163:p.Pro708Leu		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P708L	ENST00000375023.3	37	c.2123	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002674	0.54254	.	.	ENSG00000204301	ENST00000375023	D	0.87334	-2.24	4.18	4.18	0.49190	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42294	D	0.000738	T	0.72518	0.3470	L	0.29908	0.895	0.80722	D	1	B	0.23490	0.086	B	0.32149	0.141	T	0.74241	-0.3729	10	0.52906	T	0.07	.	9.2879	0.37769	0.0:0.0:0.7853:0.2147	.	708	Q99466	NOTC4_HUMAN	L	708	ENSP00000364163:P708L	ENSP00000364163:P708L	P	-	2	0	NOTCH4	32289909	0.997000	0.39634	0.991000	0.47740	0.442000	0.32017	4.245000	0.58734	2.169000	0.68431	0.561000	0.74099	CCC	-	NOTCH4	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	0	0		16	16		0.00		G			32181931	-1	7		23		tier1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	23.33		SNP	0.993	A	7	23
PODXL	5420	genome.wustl.edu	37	7	131191021	131191021	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:131191021C>T	ENST00000378555.3	-	7	1556	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	PODXL_ENST00000541194.1_Missense_Mutation_p.E439K|PODXL_ENST00000537928.1_Missense_Mutation_p.E405K|PODXL_ENST00000322985.9_Missense_Mutation_p.E405K			O00592	PODXL_HUMAN	podocalyxin-like	437					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CCGCTTACCTCCTTTAGTTCA	0.602													ENSG00000128567																																					0													112.0	117.0	115.0					7																	131191021		2203	4300	6503	SO:0001583	missense	0			-		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1309G>A	7.37:g.131191021C>T	ENSP00000367817:p.Glu437Lys		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.E439K	ENST00000378555.3	37	c.1315	CCDS34755.1	7	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261919	0.59431	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.79	4.79	0.61399	.	0.638091	0.13771	N	0.363894	T	0.22820	0.0551	L	0.45137	1.4	0.09310	N	1	B;B	0.33345	0.356;0.409	B;B	0.39379	0.197;0.298	T	0.15578	-1.0432	10	0.59425	D	0.04	-19.1372	9.4805	0.38898	0.0:0.9017:0.0:0.0983	.	405;437	O00592-2;O00592	.;PODXL_HUMAN	K	439;405;395;437;405	ENSP00000440518:E439K;ENSP00000442655:E405K;ENSP00000367817:E437K;ENSP00000319782:E405K	ENSP00000319782:E405K	E	-	1	0	PODXL	130841561	0.005000	0.15991	0.041000	0.18516	0.241000	0.25554	1.853000	0.39358	2.370000	0.80446	0.561000	0.74099	GAG	-	PODXL	-	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1		0.602	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2	0	0		76	76		0.00		C	NM_001018111		131191021	-1	35		59		tier1	no_errors	ENST00000541194	ensembl	human	known	74_37	missense	37.23		SNP	0.030	T	35	59
N4BP2L2	10443	genome.wustl.edu	37	13	33018251	33018251	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:33018251C>A	ENST00000504114.1	-	6	469	c.378G>T	c.(376-378)ttG>ttT	p.L126F	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.L141F|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.L126F			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAGTTTTCTTCAAAACTCTTT	0.323													ENSG00000244754																																					0													26.0	26.0	26.0					13																	33018251		1813	4069	5882	SO:0001583	missense	0			-	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.378G>T	13.37:g.33018251C>A	ENSP00000427477:p.Leu126Phe		A3KME8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.L141F	ENST00000504114.1	37	c.423		13	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174653	0.38413	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.03	3.18	0.36537	.	1.052470	0.07537	N	0.913240	T	0.52108	0.1714	M	0.62723	1.935	0.19575	N	0.999966	P;P;D;D	0.54047	0.815;0.815;0.964;0.964	P;P;P;P	0.53185	0.509;0.509;0.72;0.72	T	0.31806	-0.9930	10	0.62326	D	0.03	-7.0E-4	6.9739	0.24664	0.0:0.6391:0.0:0.3609	.	126;141;24;24	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	F	24;53;126;126;141;570	ENSP00000427477:L126F;ENSP00000350104:L126F;ENSP00000382328:L141F;ENSP00000423362:L570F	ENSP00000350104:L126F	L	-	3	2	N4BP2L2;RP11-298P3.4	31916251	0.953000	0.32496	0.077000	0.20336	0.674000	0.39518	0.367000	0.20382	0.422000	0.26005	-0.345000	0.07892	TTG	-	N4BP2L2	-	NULL		0.323	N4BP2L2-004	PUTATIVE	basic	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000361380.1	0	0		35	35		0.00		C	NM_014887		33018251	-1	8		17		tier1	no_errors	ENST00000399396	ensembl	human	known	74_37	missense	32.00		SNP	0.499	A	8	17
SKOR1	390598	genome.wustl.edu	37	15	68124680	68124680	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:68124680C>T	ENST00000380035.2	+	6	2714	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F	SKOR1_ENST00000554054.1_Missense_Mutation_p.L858F|SKOR1_ENST00000554240.1_Missense_Mutation_p.L847F|SKOR1_ENST00000389002.1_Missense_Mutation_p.L842F|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.L789F|RP11-34F13.3_ENST00000558889.1_RNA			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	886					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ATTTCAGAGTCTCAAAGGTAC	0.562											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000188779																																					0													105.0	102.0	103.0					15																	68124680		2200	4298	6498	SO:0001583	missense	0			-		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2656C>T	15.37:g.68124680C>T	ENSP00000369374:p.Leu886Phe	1104	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_D-bd_dom_put,superfamily_SAND_dom-like	p.L886F	ENST00000380035.2	37	c.2656		15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254656	0.80135	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.62974	0.2472	L	0.29908	0.895	0.46260	D	0.998954	D	0.89917	1.0	D	0.91635	0.999	T	0.66348	-0.5946	10	0.72032	D	0.01	-27.755	16.7928	0.85593	0.0:1.0:0.0:0.0	.	842	P84550-3	.	F	789;847;858;886;842	ENSP00000343200:L789F;ENSP00000451193:L847F;ENSP00000452361:L858F;ENSP00000369374:L886F;ENSP00000373654:L842F	ENSP00000343200:L789F	L	+	1	0	SKOR1	65911734	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.346000	0.65992	2.492000	0.84095	0.561000	0.74099	CTC	-	SKOR1	-	NULL		0.562	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	0	0		63	63		0.00		C	NM_001031807		68124680	+1	24		22		tier1	no_errors	ENST00000380035	ensembl	human	known	74_37	missense	52.17		SNP	1.000	T	24	22
ARHGEF16	27237	genome.wustl.edu	37	1	3389732	3389732	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:3389732C>T	ENST00000378378.4	+	7	1518	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	ARHGEF16_ENST00000378371.2_Silent_p.F83F|ARHGEF16_ENST00000413250.2_Silent_p.F75F|ARHGEF16_ENST00000378373.1_Silent_p.F83F	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	371	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGAAGCACTTCCACCCCTACA	0.627													ENSG00000130762																																					0													161.0	115.0	130.0					1																	3389732		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1113C>T	1.37:g.3389732C>T			Q86TF0|Q99434	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F371	ENST00000378378.4	37	c.1113	CCDS46.2	1																																																																																			-	ARHGEF16	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.627	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	0	0		19	19		0.00		C	NM_014448		3389732	+1	15		15		tier1	no_errors	ENST00000378378	ensembl	human	known	74_37	silent	50.00		SNP	1.000	T	15	15
OR2AP1	121129	genome.wustl.edu	37	12	55968495	55968495	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55968495T>A	ENST00000321688.1	+	1	297	c.297T>A	c.(295-297)taT>taA	p.Y99*	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001258285.1	NP_001245214.1	Q8NGE2	O2AP1_HUMAN	olfactory receptor, family 2, subfamily AP, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)|ovary(1)	3						TCACTCAGTATTTCTTTGCCA	0.463													ENSG00000179615																																					0																																										SO:0001587	stop_gained	0			-	BK004260	CCDS58241.1	12q13.2	2012-08-09	2004-12-10	2004-03-10	ENSG00000179615	ENSG00000179615		"""GPCR / Class A : Olfactory receptors"""	15335	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AP, member 1 pseudogene"""	OR2AP1P			Standard	NM_001258285		Approved		uc031qhr.1	Q8NGE2	OTTHUMG00000169960	ENST00000321688.1:c.297T>A	12.37:g.55968495T>A	ENSP00000323423:p.Tyr99*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Y99*	ENST00000321688.1	37	c.297	CCDS58241.1	12	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825142	0.71143	.	.	ENSG00000179615	ENST00000321688	.	.	.	4.86	-1.22	0.09494	.	0.517808	0.16271	N	0.221762	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	1.499	0.02472	0.1362:0.3255:0.2613:0.277	.	.	.	.	X	99	.	ENSP00000323423:Y99X	Y	+	3	2	OR2AP1	54254762	0.000000	0.05858	0.999000	0.59377	0.984000	0.73092	-1.834000	0.01693	0.198000	0.20407	0.533000	0.62120	TAT	-	OR2AP1	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.463	OR2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AP1	HGNC	protein_coding	OTTHUMT00000406679.1	0	0		57	57		0.00		T			55968495	+1	11		57		tier1	no_errors	ENST00000321688	ensembl	human	known	74_37	nonsense	16.18		SNP	0.007	A	11	57
PER3	8863	genome.wustl.edu	37	1	7889942	7889942	+	Missense_Mutation	SNP	G	G	A	rs371021649		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:7889942G>A	ENST00000361923.2	+	18	3083	c.2908G>A	c.(2908-2910)Ggt>Agt	p.G970S	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.G979S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	970	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTACTACCGGTGCACTGTC	0.507													ENSG00000049246																																					0								G	SER/GLY	0,4406		0,0,2203	136.0	122.0	127.0		2908	-4.6	0.0	1		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PER3	NM_016831.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	970/1202	7889942	1,13005	2203	4300	6503	SO:0001583	missense	0			-	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2908G>A	1.37:g.7889942G>A	ENSP00000355031:p.Gly970Ser		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.G970S	ENST00000361923.2	37	c.2908	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	2.494	-0.316742	0.05386	0.0	1.16E-4	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10477	2.91;2.87	2.31	-4.61	0.03380	.	613.810000	0.01140	N	0.006182	T	0.06872	0.0175	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.15141	0.007;0.007;0.012;0.007	B;B;B;B	0.12156	0.006;0.003;0.007;0.006	T	0.33979	-0.9847	10	0.07175	T	0.84	.	5.989	0.19450	0.2458:0.1867:0.5675:0.0	.	970;979;979;970	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	979;970;181	ENSP00000366755:G979S;ENSP00000355031:G970S	ENSP00000355031:G970S	G	+	1	0	PER3	7812529	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.911000	0.01583	-1.285000	0.02387	-1.363000	0.01210	GGT	-	PER3	-	NULL		0.507	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	0	0		81	81		0.00		G	NM_016831		7889942	+1	33		51		tier1	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	39.29		SNP	0.000	A	33	51
RAB11FIP1	80223	genome.wustl.edu	37	8	37727931	37727931	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:37727931G>A	ENST00000330843.4	-	5	3646				RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_Intron|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P432S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)						protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTTCTCAGAGGACATACCTTC	0.512													ENSG00000156675																																					0													211.0	149.0	170.0					8																	37727931		2203	4300	6503	SO:0001627	intron_variant	0			-	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3633+6C>T	8.37:g.37727931G>A			J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	NULL	p.P432S	ENST00000330843.4	37	c.1294	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093188	0.36952	.	.	ENSG00000156675	ENST00000524118	T	0.30182	1.54	4.43	1.64	0.23874	.	.	.	.	.	T	0.21347	0.0514	.	.	.	0.09310	N	1	B;B	0.18863	0.014;0.031	B;B	0.19946	0.012;0.027	T	0.27297	-1.0078	8	0.87932	D	0	.	4.5001	0.11860	0.2358:0.2501:0.5141:0.0	.	432;543	Q6WKZ4-2;Q67C35	.;.	S	432	ENSP00000430680:P432S	ENSP00000430680:P432S	P	-	1	0	RAB11FIP1	37847089	0.009000	0.17119	0.008000	0.14137	0.238000	0.25445	0.109000	0.15417	0.222000	0.20900	0.655000	0.94253	CCT	-	RAB11FIP1	-	NULL		0.512	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	0	0		48	48		0.00		G	NM_025151		37727931	-1	16		42		tier1	no_errors	ENST00000524118	ensembl	human	known	74_37	missense	27.59		SNP	0.021	A	16	42
RAP1GAP2	23108	genome.wustl.edu	37	17	2921430	2921430	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:2921430C>T	ENST00000254695.8	+	18	1660	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P524S|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P509S|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P505S	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	524					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGGGGCATCCCTGGCAGCCT	0.662													ENSG00000132359																																					0													16.0	19.0	18.0					17																	2921430		2087	4218	6305	SO:0001583	missense	0			-	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1570C>T	17.37:g.2921430C>T	ENSP00000254695:p.Pro524Ser		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.P524S	ENST00000254695.8	37	c.1570	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	C	3.290	-0.145234	0.06627	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.89681	-2.53;-2.5;-2.55;-2.53	4.66	4.66	0.58398	.	0.149219	0.64402	D	0.000008	T	0.76154	0.3948	N	0.16656	0.425	0.58432	D	0.999998	B;B	0.19200	0.034;0.02	B;B	0.18263	0.021;0.009	T	0.68481	-0.5397	10	0.02654	T	1	-15.1478	10.5585	0.45131	0.0:0.9104:0.0:0.0896	.	509;524	Q684P5-2;Q684P5	.;RPGP2_HUMAN	S	524;509;505;524	ENSP00000254695:P524S;ENSP00000389824:P509S;ENSP00000439688:P505S;ENSP00000444890:P524S	ENSP00000254695:P524S	P	+	1	0	RAP1GAP2	2868180	1.000000	0.71417	0.417000	0.26559	0.314000	0.28054	4.562000	0.60816	2.320000	0.78422	0.462000	0.41574	CCT	-	RAP1GAP2	-	NULL		0.662	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	0	0		65	65		0.00		C			2921430	+1	43		89		tier1	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	32.58		SNP	1.000	T	43	89
ZFYVE9	9372	genome.wustl.edu	37	1	52732455	52732455	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:52732455C>T	ENST00000371591.1	+	5	2538	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.P803S|ZFYVE9_ENST00000357206.2_Intron	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	803	SBD.				endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CTCTCCACCTCCCACTGTGAT	0.512													ENSG00000157077																																					0													106.0	89.0	95.0					1																	52732455		2203	4300	6503	SO:0001583	missense	0			-	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2407C>T	1.37:g.52732455C>T	ENSP00000360647:p.Pro803Ser		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.P803S	ENST00000371591.1	37	c.2407	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054356	0.75960	.	.	ENSG00000157077	ENST00000287727;ENST00000371591	T;T	0.42513	0.97;0.97	4.97	4.97	0.65823	Smad anchor for receptor activation, Smad-binding domain (2);	0.000000	0.64402	D	0.000001	T	0.58764	0.2145	L	0.52573	1.65	0.80722	D	1	P	0.50943	0.94	D	0.64687	0.928	T	0.57441	-0.7811	10	0.44086	T	0.13	.	18.2554	0.90017	0.0:1.0:0.0:0.0	.	803	O95405	ZFYV9_HUMAN	S	803	ENSP00000287727:P803S;ENSP00000360647:P803S	ENSP00000287727:P803S	P	+	1	0	ZFYVE9	52505043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.722000	0.84778	2.297000	0.77311	0.655000	0.94253	CCC	-	ZFYVE9	-	pfam_SARA_Smad-bd,pirsf_Znf_FYVE_SARA/endofin		0.512	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	0	0		100	100		0.00		C	NM_007324		52732455	+1	35		70		tier1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	33.33		SNP	1.000	T	35	70
NCOA1	8648	genome.wustl.edu	37	2	24930035	24930035	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:24930035T>G	ENST00000406961.1	+	13	2348	c.1696T>G	c.(1696-1698)Tca>Gca	p.S566A	NCOA1_ENST00000407230.1_Missense_Mutation_p.S415A|NCOA1_ENST00000395856.3_Missense_Mutation_p.S566A|NCOA1_ENST00000538539.1_Missense_Mutation_p.S566A|NCOA1_ENST00000405141.1_Missense_Mutation_p.S566A|NCOA1_ENST00000348332.3_Missense_Mutation_p.S566A|NCOA1_ENST00000288599.5_Missense_Mutation_p.S566A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	566	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGATGAGCTCACAGAATTC	0.393			T	PAX3	alveolar rhadomyosarcoma								ENSG00000084676																												Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													52.0	55.0	54.0					2																	24930035		2203	4299	6502	SO:0001583	missense	0			-	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1696T>G	2.37:g.24930035T>G	ENSP00000385216:p.Ser566Ala		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.S566A	ENST00000406961.1	37	c.1696	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567482	0.28003	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02216	4.51;4.51;4.39;4.51;4.51;4.51;4.51	5.74	5.74	0.90152	.	0.191761	0.46145	D	0.000306	T	0.03783	0.0107	L	0.59436	1.845	0.45733	D	0.998636	P;B;P;B	0.36837	0.571;0.435;0.571;0.39	B;B;B;B	0.41510	0.359;0.197;0.359;0.172	T	0.48758	-0.9007	10	0.07990	T	0.79	.	11.4798	0.50318	0.1346:0.0:0.0:0.8654	.	566;566;566;415	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	A	566;566;415;566;566;566;566	ENSP00000385216:S566A;ENSP00000385097:S566A;ENSP00000385195:S415A;ENSP00000444039:S566A;ENSP00000320940:S566A;ENSP00000288599:S566A;ENSP00000379197:S566A	ENSP00000288599:S566A	S	+	1	0	NCOA1	24783539	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.831000	0.39141	2.193000	0.70182	0.533000	0.62120	TCA	-	NCOA1	-	pirsf_Nuclear_rcpt_coactivator		0.393	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	0	0		46	46		0.00		T	NM_147223		24930035	+1	32		52		tier1	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	38.10		SNP	1.000	G	32	52
METTL21EP	121952	genome.wustl.edu	37	13	103547977	103547977	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:103547977C>T	ENST00000605100.1	+	0	1906					NR_026965.1		A6NDL7	MT21E_HUMAN	methyltransferase like 21E, pseudogene								methyltransferase activity (GO:0008168)										TTTCCAGTTTCCCTAGCCTGA	0.403													ENSG00000250878																																					0																																												0			-			13q33.1	2012-11-09	2012-11-09	2012-11-09	ENSG00000250878	ENSG00000250878			41948	pseudogene	pseudogene			"""methyltransferase like 21C pseudogene 1"""	METTL21CP1			Standard	NR_026965		Approved		uc001vpx.1	A6NDL7	OTTHUMG00000017312		13.37:g.103547977C>T				R	SNP	-	NULL	ENST00000605100.1	37	NULL		13																																																																																			-	METTL21EP	-	-		0.403	METTL21EP-002	KNOWN	basic	processed_transcript	METTL21EP	HGNC	pseudogene	OTTHUMT00000468255.1	0	0		40	40		0.00		C	NR_026965		103547977	+1	7		25		tier1	no_errors	ENST00000605100	ensembl	human	known	74_37	rna	21.88		SNP	0.997	T	7	25
DST	667	genome.wustl.edu	37	6	56480985	56480985	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:56480985A>G	ENST00000370765.6	-	24	7387	c.7280T>C	c.(7279-7281)cTt>cCt	p.L2427P	DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1728	Asp-rich.				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)			AAGTTCTGTAAGTGTGATGAG	0.438													ENSG00000151914																																					0													94.0	87.0	89.0					6																	56480985		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	ENST00000370765.6:c.7280T>C	6.37:g.56480985A>G	ENSP00000359801:p.Leu2427Pro		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_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L2427P	ENST00000370765.6	37	c.7280	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	A	8.768	0.925228	0.18056	.	.	ENSG00000151914	ENST00000370765	T	0.69685	-0.42	5.72	4.37	0.52481	.	.	.	.	.	T	0.38746	0.1052	.	.	.	0.24573	N	0.993914	B	0.09022	0.002	B	0.12156	0.007	T	0.41556	-0.9502	7	0.72032	D	0.01	.	7.5054	0.27542	0.7731:0.0:0.2269:0.0	.	2427	Q03001-3	.	P	2427	ENSP00000359801:L2427P	ENSP00000359801:L2427P	L	-	2	0	DST	56588944	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	1.334000	0.33827	2.184000	0.69523	0.528000	0.53228	CTT	-	DST	-	NULL		0.438	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	0	0		47	47		0.00		A	NM_001723		56480985	-1	18		61		tier1	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	22.78		SNP	0.807	G	18	61
SPDYC	387778	genome.wustl.edu	37	11	64939415	64939415	+	Splice_Site	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64939415G>T	ENST00000377185.2	+	3	283	c.201G>T	c.(199-201)gaG>gaT	p.E67D	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TACCCTCAGAGGACAGTTTTG	0.537													ENSG00000204710																																					0													81.0	76.0	78.0					11																	64939415		2201	4297	6498	SO:0001630	splice_region_variant	0			-	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.200-1G>T	11.37:g.64939415G>T				Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.E67D	ENST00000377185.2	37	c.201	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168735	0.38315	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.07	4.07	0.47477	.	0.146897	0.28047	N	0.016811	T	0.42630	0.1211	L	0.48935	1.535	0.28185	N	0.927982	D	0.56746	0.977	P	0.53912	0.737	T	0.22661	-1.0210	9	0.21014	T	0.42	.	7.5959	0.28048	0.1153:0.0:0.8847:0.0	.	67	Q5MJ68	SPDYC_HUMAN	D	67	.	ENSP00000366390:E67D	E	+	3	2	SPDYC	64695991	1.000000	0.71417	0.993000	0.49108	0.434000	0.31775	0.811000	0.27198	2.106000	0.64143	0.655000	0.94253	GAG	-	SPDYC	-	pfam_Cell_cycle_regulatory_Spy1		0.537	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	0	0		42	42		0.00		G	NM_001008778	Missense_Mutation	64939415	+1	27		37		tier1	no_errors	ENST00000377185	ensembl	human	known	74_37	missense	41.54		SNP	1.000	T	27	37
PDE4C	5143	genome.wustl.edu	37	19	18331176	18331176	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18331176C>T	ENST00000355502.3	-	10	1580				PDE4C_ENST00000447275.3_Intron|PDE4C_ENST00000539010.1_Intron|PDE4C_ENST00000594617.3_Intron|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000262805.12_Intron|PDE4C_ENST00000594465.3_Intron			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GCACCGTGGGCCGAGGCAGGT	0.642													ENSG00000268650																																					0													86.0	74.0	78.0					19																	18331176		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.708+36G>A	19.37:g.18331176C>T			B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	R	SNP	-	NULL	ENST00000355502.3	37	NULL	CCDS12373.1	19																																																																																			-	AC068499.10	-	-		0.642	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000268650	Clone_based_vega_gene	protein_coding	OTTHUMT00000466295.1	0	0		42	42		0.00		C			18331176	+1	34		32		tier1	no_errors	ENST00000594805	ensembl	human	known	74_37	rna	50.75		SNP	0.010	T	34	32
PDE4C	5143	genome.wustl.edu	37	19	18333087	18333087	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:18333087G>A	ENST00000355502.3	-	6	1160	c.289C>T	c.(289-291)Cct>Tct	p.P97S	PDE4C_ENST00000447275.3_5'UTR|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000594617.3_Missense_Mutation_p.P97S|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000262805.12_Missense_Mutation_p.P65S|PDE4C_ENST00000594465.3_Missense_Mutation_p.P97S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	97					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGGACTGAGGGTCCAGGGCC	0.617													ENSG00000105650																																					0													48.0	49.0	48.0					19																	18333087		2203	4300	6503	SO:0001583	missense	0			-		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.289C>T	19.37:g.18333087G>A	ENSP00000347689:p.Pro97Ser		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.P97S	ENST00000355502.3	37	c.289	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	G	4.005	-0.001852	0.07819	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000543547	T;T	0.69561	1.01;-0.41	4.13	-1.14	0.09741	.	.	.	.	.	T	0.43986	0.1272	L	0.28115	0.83	0.80722	D	1	B;B;B	0.17268	0.021;0.012;0.001	B;B;B	0.21917	0.007;0.012;0.037	T	0.11372	-1.0590	9	0.25106	T	0.35	.	1.9652	0.03394	0.178:0.3009:0.3762:0.145	.	206;97;65	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	S	176;97;85;65;206	ENSP00000347689:P97S;ENSP00000262805:P65S	ENSP00000262805:P65S	P	-	1	0	PDE4C	18194087	0.997000	0.39634	0.034000	0.17996	0.415000	0.31203	0.731000	0.26058	-0.414000	0.07495	0.306000	0.20318	CCT	-	PDE4C	-	NULL		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	0	0		15	15		0.00		G			18333087	-1	12		14		tier1	no_errors	ENST00000355502	ensembl	human	known	74_37	missense	46.15		SNP	0.984	A	12	14
ZBED9	114821	genome.wustl.edu	37	6	28543503	28543503	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:28543503C>T	ENST00000452236.2	-	3	1596	c.979G>A	c.(979-981)Gag>Aag	p.E327K	SCAND3_ENST00000530247.1_5'Flank	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						AACTCTTTCTCCATGCGAGTA	0.373													ENSG00000232040																																					0													259.0	230.0	240.0					6																	28543503		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000452236.2:c.979G>A	6.37:g.28543503C>T	ENSP00000395259:p.Glu327Lys			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.E327K	ENST00000452236.2	37	c.979	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743127	0.69418	.	.	ENSG00000232040	ENST00000452236	T	0.01406	4.93	3.44	3.44	0.39384	.	.	.	.	.	T	0.02012	0.0063	L	0.47716	1.5	0.27725	N	0.944982	D	0.63880	0.993	D	0.68192	0.956	T	0.52525	-0.8564	9	0.39692	T	0.17	.	10.6113	0.45423	0.0:1.0:0.0:0.0	.	327	Q6R2W3	SCND3_HUMAN	K	327	ENSP00000395259:E327K	ENSP00000395259:E327K	E	-	1	0	SCAND3	28651482	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	0.380000	0.20602	1.930000	0.55929	0.650000	0.86243	GAG	-	SCAND3	-	NULL		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	0	0		45	45		0.00		C			28543503	-1	12		17		tier1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	41.38		SNP	1.000	T	12	17
ALG13	79868	genome.wustl.edu	37	X	111002986	111002986	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:111002986C>T	ENST00000394780.3	+	27	3185	c.3173C>T	c.(3172-3174)tCa>tTa	p.S1058L	ALG13_ENST00000251943.4_Missense_Mutation_p.S875L|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1058					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GCTGATTCTTCATCTGTCCCT	0.423													ENSG00000101901																																					0													85.0	60.0	68.0					X																	111002986		1568	3581	5149	SO:0001583	missense	0			-	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3173C>T	X.37:g.111002986C>T	ENSP00000378260:p.Ser1058Leu		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.S875L	ENST00000394780.3	37	c.2624	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	c	8.372	0.835587	0.16820	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.55234	1.56;0.53	5.8	3.02	0.34903	.	0.585543	0.16888	N	0.195438	T	0.23766	0.0575	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.20075	-1.0286	10	0.16896	T	0.51	-0.1579	5.7342	0.18057	0.0:0.6272:0.1378:0.235	.	980;1058;875	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	L	875;1058;612	ENSP00000251943:S875L;ENSP00000378260:S1058L	ENSP00000251943:S875L	S	+	2	0	ALG13	110889642	0.200000	0.23398	0.703000	0.30354	0.941000	0.58515	1.131000	0.31406	0.208000	0.20626	0.597000	0.82753	TCA	-	ALG13	-	NULL		0.423	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	0	0		25	25		0.00		C	NM_018466		111002986	+1	17		13		tier1	no_errors	ENST00000251943	ensembl	human	known	74_37	missense	56.67		SNP	0.007	T	17	13
LRRC30	339291	genome.wustl.edu	37	18	7231470	7231470	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:7231470G>A	ENST00000383467.2	+	1	348	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	112										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						CCTGCCCAGAGAAGTGAGCCT	0.602													ENSG00000206422																																					0													39.0	44.0	42.0					18																	7231470		1988	4170	6158	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.334G>A	18.37:g.7231470G>A	ENSP00000372959:p.Glu112Lys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E112K	ENST00000383467.2	37	c.334	CCDS42409.1	18	.	.	.	.	.	.	.	.	.	.	G	16.18	3.048883	0.55110	.	.	ENSG00000206422	ENST00000383467	T	0.50277	0.75	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	L	0.39326	1.205	0.45580	D	0.998526	P	0.43938	0.822	P	0.49528	0.614	T	0.42275	-0.9461	10	0.38643	T	0.18	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	112	A6NM36	LRC30_HUMAN	K	112	ENSP00000372959:E112K	ENSP00000372959:E112K	E	+	1	0	LRRC30	7221470	1.000000	0.71417	0.037000	0.18230	0.096000	0.18686	9.157000	0.94714	2.827000	0.97445	0.650000	0.86243	GAA	-	LRRC30	-	smart_Leu-rich_rpt_typical-subtyp		0.602	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	HGNC	protein_coding	OTTHUMT00000442140.1	0	0		54	54		0.00		G	XM_292678		7231470	+1	7		58		tier1	no_errors	ENST00000383467	ensembl	human	known	74_37	missense	10.77		SNP	0.920	A	7	58
BDP1	55814	genome.wustl.edu	37	5	70810863	70810863	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:70810863G>A	ENST00000358731.4	+	20	4826	c.4563G>A	c.(4561-4563)agG>agA	p.R1521R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1521					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGACTGAAAGGAACCTTTCAC	0.413													ENSG00000145734																																					0													71.0	70.0	70.0					5																	70810863		1907	4128	6035	SO:0001819	synonymous_variant	0			-	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4563G>A	5.37:g.70810863G>A			Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.R1521	ENST00000358731.4	37	c.4563	CCDS43328.1	5																																																																																			-	BDP1	-	NULL		0.413	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	0	0		57	57		0.00		G	NM_018429		70810863	+1	18		46		tier1	no_errors	ENST00000358731	ensembl	human	known	74_37	silent	28.12		SNP	0.027	A	18	46
DFNA5	1687	genome.wustl.edu	37	7	24756994	24756994	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:24756994C>T	ENST00000342947.3	-	5	1002		c.e5-1		DFNA5_ENST00000559637.1_Splice_Site|DFNA5_ENST00000409970.1_Splice_Site|DFNA5_ENST00000409775.3_Splice_Site|DFNA5_ENST00000545231.1_Splice_Site|DFNA5_ENST00000419307.1_Splice_Site	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5						apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCGCTGACACCTGTGGGCAAA	0.572													ENSG00000105928																									GBM(78;184 1250 20134 20900 23600)												0													111.0	81.0	91.0					7																	24756994		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.577-1G>A	7.37:g.24756994C>T			A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Splice_Site	SNP	-	e4-1	ENST00000342947.3	37	c.577-1	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518506	0.27211	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775;ENST00000446822	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5849	0.91185	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DFNA5	24723519	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.759000	0.62227	2.676000	0.91093	0.655000	0.94253	.	-	DF5	-	-		0.572	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DF5	HGNC	protein_coding	OTTHUMT00000214060.2	0	0		25	25		0.00		C	NM_004403	Intron	24756994	-1	14		22		tier1	no_errors	ENST00000342947	ensembl	human	known	74_37	splice_site	38.89		SNP	1.000	T	14	22
TRPC7	57113	genome.wustl.edu	37	5	135587462	135587462	+	Missense_Mutation	SNP	G	G	A	rs376083475		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:135587462G>A	ENST00000513104.1	-	6	1736	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	TRPC7_ENST00000426057.2_Missense_Mutation_p.S369F|TRPC7_ENST00000355180.3_Missense_Mutation_p.S424F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	485					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)			TGCTGTGAAGGAGGCCACGAA	0.592													ENSG00000069018																																					0													71.0	79.0	77.0					5																	135587462		2130	4243	6373	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.1454C>T	5.37:g.135587462G>A	ENSP00000426070:p.Ser485Phe		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.S485F	ENST00000513104.1	37	c.1454	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	31	5.071635	0.93950	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	D;D;D	0.98684	-5.07;-5.07;-5.07	4.91	4.91	0.64330	Ion transport (1);	0.184765	0.49305	D	0.000147	D	0.98988	0.9655	M	0.86343	2.81	0.80722	D	1	B;P;P;P	0.45569	0.389;0.725;0.861;0.861	B;P;P;P	0.54401	0.403;0.557;0.751;0.751	D	0.99848	1.1068	10	0.87932	D	0	-20.9628	18.294	0.90139	0.0:0.0:1.0:0.0	.	369;424;430;485	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	F	424;369;485;485	ENSP00000347312:S424F;ENSP00000441628:S369F;ENSP00000426070:S485F	ENSP00000265193:S485F	S	-	2	0	TRPC7	135615361	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.583000	0.98217	2.563000	0.86464	0.650000	0.86243	TCC	-	TRPC7	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.592	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	0	0		60	60		0.00		G	NM_020389		135587462	-1	26		70		tier1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	27.08		SNP	1.000	A	26	70
C14orf182	283551	genome.wustl.edu	37	14	50470034	50470034	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:50470034G>A	ENST00000529902.1	-	0	3203				C14orf182_ENST00000399206.1_Intron			A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182											large_intestine(2)|urinary_tract(1)	3						GCCGCCCGGGGAGGTCCTGGC	0.657													ENSG00000214900																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000529902.1:c.-1076C>T	14.37:g.50470034G>A			A8MYX4	R	SNP	-	NULL	ENST00000529902.1	37	NULL		14																																																																																			-	C14orf182	-	-		0.657	C14orf182-004	KNOWN	basic	processed_transcript	C14orf182	HGNC	protein_coding	OTTHUMT00000395721.1	0	0		31	31		0.00		G	NM_001012706		50470034	-1	8		22		tier1	no_errors	ENST00000529902	ensembl	human	known	74_37	rna	26.67		SNP	0.001	A	8	22
RELN	5649	genome.wustl.edu	37	7	103236958	103236958	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:103236958C>T	ENST00000428762.1	-	25	3643	c.3484G>A	c.(3484-3486)Ggc>Agc	p.G1162S	RELN_ENST00000343529.5_Missense_Mutation_p.G1162S|RELN_ENST00000424685.2_Missense_Mutation_p.G1162S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1162					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGGATGCCCCCATTGTTG	0.517													ENSG00000189056																									NSCLC(146;835 1944 15585 22231 52158)												0													191.0	171.0	178.0					7																	103236958		2203	4300	6503	SO:0001583	missense	0			-		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3484G>A	7.37:g.103236958C>T	ENSP00000392423:p.Gly1162Ser		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G1162S	ENST00000428762.1	37	c.3484	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.670423	0.96754	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.74421	-0.41;-0.84;-0.41	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.98;0.994	D	0.89237	0.3581	10	0.87932	D	0	.	20.0758	0.97742	0.0:1.0:0.0:0.0	.	1162;1162	P78509-2;P78509	.;RELN_HUMAN	S	1162	ENSP00000392423:G1162S;ENSP00000345694:G1162S;ENSP00000388446:G1162S	ENSP00000345694:G1162S	G	-	1	0	RELN	103024194	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	7.270000	0.78493	2.763000	0.94921	0.650000	0.86243	GGC	-	RELN	-	superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	0	0		50	50		0.00		C	NM_005045		103236958	-1	44		50		tier1	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	46.81		SNP	1.000	T	44	50
PDE4DIP	9659	genome.wustl.edu	37	1	144931147	144931147	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:144931147G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.R188*|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R188*|PDE4DIP_ENST00000369356.4_Intron			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)		GCCACCTTTCGAGGTACCTTA	0.557			T	PDGFRB	MPD								ENSG00000178104																												Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													101.0	108.0	106.0					1																	144931147		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.637-7326C>T	1.37:g.144931147G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.R188*	ENST00000369354.3	37	c.562	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.240619	0.99366	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5264	0.50582	0.0:0.0:0.821:0.179	.	.	.	.	X	188	.	ENSP00000316434:R188X	R	-	1	2	PDE4DIP	143642504	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.749000	0.62155	2.467000	0.83353	0.462000	0.41574	CGA	-	PDE4DIP	-	NULL		0.557	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	0	0		70	70		0.00		G	NM_022359		144931147	-1	19		78		tier1	no_errors	ENST00000313431	ensembl	human	known	74_37	nonsense	19.59		SNP	1.000	A	19	78
CREBBP	1387	genome.wustl.edu	37	16	3832702	3832702	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:3832702C>T	ENST00000262367.5	-	6	2365	c.1556G>A	c.(1555-1557)aGg>aAg	p.R519K	CREBBP_ENST00000382070.3_Missense_Mutation_p.R481K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	519					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTTGAGAGTCCTCATCTGCTG	0.562			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						ENSG00000005339																												Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													102.0	94.0	97.0					16																	3832702		2197	4300	6497	SO:0001583	missense	0			-	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1556G>A	16.37:g.3832702C>T	ENSP00000262367:p.Arg519Lys		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R519K	ENST00000262367.5	37	c.1556	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213736	0.58452	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83914	-1.76;-1.78	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.88760	0.6524	M	0.72894	2.215	0.54753	D	0.999986	P;P	0.50066	0.931;0.918	P;P	0.54060	0.741;0.626	D	0.86749	0.1959	10	0.39692	T	0.17	-25.5575	20.4777	0.99188	0.0:1.0:0.0:0.0	.	549;519	Q4LE28;Q92793	.;CBP_HUMAN	K	519;549;481	ENSP00000262367:R519K;ENSP00000371502:R481K	ENSP00000262367:R519K	R	-	2	0	CREBBP	3772703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.579000	0.67457	2.840000	0.97914	0.655000	0.94253	AGG	-	CREBBP	-	NULL		0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	0	0		64	64		0.00		C	NM_004380		3832702	-1	33		59		tier1	no_errors	ENST00000262367	ensembl	human	known	74_37	missense	35.87		SNP	1.000	T	33	59
GNPTAB	79158	genome.wustl.edu	37	12	102160056	102160056	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:102160056A>G	ENST00000299314.7	-	12	1687	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	475	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAATATAGCGACTCCCTCCAC	0.488													ENSG00000111670																																					0													108.0	99.0	102.0					12																	102160056		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1425T>C	12.37:g.102160056A>G			A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.S475	ENST00000299314.7	37	c.1425	CCDS9088.1	12																																																																																			-	GNPTAB	-	NULL		0.488	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	0	0		29	29		0.00		A			102160056	-1	13		12		tier1	no_errors	ENST00000299314	ensembl	human	known	74_37	silent	52.00		SNP	0.445	G	13	12
NEB	4703	genome.wustl.edu	37	2	152381747	152381747	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:152381747G>A	ENST00000172853.10	-	123	17246	c.17099C>T	c.(17098-17100)tCc>tTc	p.S5700F	NEB_ENST00000604864.1_Missense_Mutation_p.S7401F|NEB_ENST00000603639.1_Missense_Mutation_p.S7401F|NEB_ENST00000427231.2_Missense_Mutation_p.S7401F|NEB_ENST00000409198.1_Missense_Mutation_p.S5700F|NEB_ENST00000397345.3_Missense_Mutation_p.S7401F			P20929	NEBU_HUMAN	nebulin	5700					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAGTAGTTGGATTTTCCTTT	0.418													ENSG00000183091																																					0													142.0	132.0	135.0					2																	152381747		1893	4106	5999	SO:0001583	missense	0			-	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17099C>T	2.37:g.152381747G>A	ENSP00000172853:p.Ser5700Phe		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.S7401F	ENST00000172853.10	37	c.22202		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.879683|4.879683	0.91740|0.91740	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.08634	.|3.19;3.14;3.2;3.07;3.19	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.102178	.|0.64402	.|D	.|0.000001	T|T	0.28466|0.28466	0.0704|0.0704	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.974	.|D;D;P	.|0.91635	.|0.998;0.999;0.789	T|T	0.03202|0.03202	-1.1061|-1.1061	5|10	.|0.10902	.|T	.|0.67	.|.	20.6282|20.6282	0.99521|0.99521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5700;7401;2131	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	S|F	24|5700;7401;7401;1749;2131;5700	.|ENSP00000386259:S5700F;ENSP00000380505:S7401F;ENSP00000416578:S7401F;ENSP00000410961:S2131F;ENSP00000172853:S5700F	.|ENSP00000172853:S5700F	P|S	-|-	1|2	0|0	NEB|NEB	152089993|152089993	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.832000|9.832000	0.99423|0.99423	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	CCA|TCC	-	NEB	-	NULL		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		0	0		65	65		0.00		G	NM_004543		152381747	-1	8		35		tier1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	18.60		SNP	1.000	A	8	35
LPHN2	23266	genome.wustl.edu	37	1	82450155	82450155	+	Intron	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:82450155A>G	ENST00000370728.1	+	22	3915				LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000394879.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTCCACGGATAAGTTTTAGTG	0.323													ENSG00000117114																																					0																																										SO:0001627	intron_variant	0			-	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3271-112A>G	1.37:g.82450155A>G			A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	R	SNP	-	NULL	ENST00000370728.1	37	NULL		1																																																																																			-	LPHN2	-	-		0.323	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	0	0		10	10		0.00		A	NM_012302		82450155	+1	8		14		tier1	no_errors	ENST00000498776	ensembl	human	known	74_37	rna	36.36		SNP	0.000	G	8	14
FAM102A	399665	genome.wustl.edu	37	9	130703842	130703842	+	3'UTR	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:130703842T>C	ENST00000373095.1	-	0	3159				RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|FAM102A_ENST00000300434.3_5'UTR|RP11-203J24.8_ENST00000415141.2_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|FAM102A_ENST00000373084.4_3'UTR|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A											breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TTCTAAGGGTTAGGTGAGTAA	0.547													ENSG00000167106																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.*1629A>G	9.37:g.130703842T>C			A2A329|Q8TEL4	R	SNP	-	NULL	ENST00000373095.1	37	NULL	CCDS35150.1	9																																																																																			-	FAM102A	-	-		0.547	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102A	HGNC	protein_coding	OTTHUMT00000054298.2	0	0		20	20		0.00		T			130703842	-1	9		14		tier1	no_errors	ENST00000300434	ensembl	human	known	74_37	rna	39.13		SNP	0.016	C	9	14
PLEKHM1	9842	genome.wustl.edu	37	17	43528023	43528023	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:43528023C>T	ENST00000430334.3	-	8	2737	c.2604G>A	c.(2602-2604)ccG>ccA	p.P868P	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.P779P	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	868					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGATCCTGGCCGGAATCACTG	0.582													ENSG00000225190																																					0													29.0	27.0	28.0					17																	43528023		2202	4297	6499	SO:0001819	synonymous_variant	0			-	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2604G>A	17.37:g.43528023C>T			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P868	ENST00000430334.3	37	c.2604	CCDS32671.1	17																																																																																			-	PLEKHM1	-	NULL		0.582	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	0	0		91	91		0.00		C	NM_014798		43528023	-1	43		63		tier1	no_errors	ENST00000430334	ensembl	human	known	74_37	silent	40.57		SNP	0.090	T	43	63
SAA3P	6290	genome.wustl.edu	37	11	18134110	18134110	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:18134110C>T	ENST00000534768.1	-	0	550					NR_026576.1				serum amyloid A3 pseudogene											lung(2)	2						aacaaatgtccctgccctcag	0.433													ENSG00000166787																																					0																																												0			-	S73444		11p15.1	2014-06-05			ENSG00000166787	ENSG00000166787			10515	pseudogene	pseudogene				SAA3		8325654, 2558975	Standard	NR_026576		Approved		uc001mnt.3		OTTHUMG00000166433		11.37:g.18134110C>T				R	SNP	-	NULL	ENST00000534768.1	37	NULL		11																																																																																			-	SAA3P	-	-		0.433	SAA3P-002	KNOWN	basic	processed_transcript	SAA3P	HGNC	pseudogene	OTTHUMT00000389765.1	0	0		36	36		0.00		C			18134110	-1	20		38		tier1	no_errors	ENST00000534768	ensembl	human	known	74_37	rna	34.48		SNP	0.003	T	20	38
PRRT1	80863	genome.wustl.edu	37	6	32116627	32116627	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32116627G>A	ENST00000211413.5	-	0	1417				PRRT1_ENST00000375150.2_3'UTR|PRRT1_ENST00000375152.2_3'UTR|PRRT1_ENST00000467780.1_5'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1						response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TGCCGACCTGGAGGCGGGGTT	0.612													ENSG00000204314																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.*372C>T	6.37:g.32116627G>A			A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	R	SNP	-	NULL	ENST00000211413.5	37	NULL	CCDS4739.1	6																																																																																			-	PRRT1	-	-		0.612	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2	0	0		136	136		0.00		G	NM_030651		32116627	-1	75		123		tier1	no_errors	ENST00000467780	ensembl	human	known	74_37	rna	37.88		SNP	0.997	A	75	123
FMO6P	388714	genome.wustl.edu	37	1	171121086	171121086	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:171121086C>T	ENST00000236166.3	+	6	975	c.865C>T	c.(865-867)Cca>Tca	p.P289S				O60774	FMO6_HUMAN	flavin containing monooxygenase 6 pseudogene	289						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)										TGATGAGCTCCCATCCCGCAT	0.488													ENSG00000117507																																					0																																										SO:0001583	missense	0			-	AK130511		1q24.3	2011-08-04	2006-12-04	2006-12-04	ENSG00000117507	ENSG00000117507			24024	pseudogene	pseudogene			"""flavin containing monooxygenase 6"""	FMO6		15077013	Standard	NR_002601		Approved		uc001ghj.1	O60774	OTTHUMG00000035503	ENST00000236166.3:c.865C>T	1.37:g.171121086C>T	ENSP00000236166:p.Pro289Ser			Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1	p.P289S	ENST00000236166.3	37	c.865		1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450380	0.63290	.	.	ENSG00000117507	ENST00000236166	.	.	.	5.29	3.33	0.38152	.	0.244896	0.41500	D	0.000869	T	0.65678	0.2714	.	.	.	0.37977	D	0.93348	D	0.55385	0.971	P	0.59012	0.85	T	0.69015	-0.5257	8	0.45353	T	0.12	-3.3329	15.1497	0.72687	0.0:0.7463:0.2537:0.0	.	289	O60774	FMO6_HUMAN	S	289	.	ENSP00000236166:P289S	P	+	1	0	FMO6P	169387710	0.997000	0.39634	0.426000	0.26672	0.587000	0.36485	6.035000	0.70940	0.556000	0.29098	0.460000	0.39030	CCA	-	FMO6P	-	pfam_Flavin_mOase-like		0.488	FMO6P-003	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	FMO6P	HGNC	protein_coding	OTTHUMT00000385941.4	0	0		92	92		0.00		C	XM_371326		171121086	+1	52		61		tier1	no_errors	ENST00000236166	ensembl	human	novel	74_37	missense	45.61		SNP	0.975	T	52	61
BRSK2	9024	genome.wustl.edu	37	11	1432834	1432834	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1432834C>T	ENST00000528841.1	+	1	475				BRSK2_ENST00000528710.1_Intron|BRSK2_ENST00000308230.5_Intron|BRSK2_ENST00000531197.1_Intron|BRSK2_ENST00000526678.1_Intron|BRSK2_ENST00000308219.9_Intron|BRSK2_ENST00000382179.1_Missense_Mutation_p.T67I			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2						actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CAAGGCCAGACCTGGCTCTGC	0.697													ENSG00000174672																																					0													6.0	7.0	7.0					11																	1432834		855	1955	2810	SO:0001627	intron_variant	0			-	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.91+21229C>T	11.37:g.1432834C>T			B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	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.T67I	ENST00000528841.1	37	c.200	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778554	0.31502	.	.	ENSG00000174672	ENST00000382179	T	0.69685	-0.42	1.19	0.0959	0.14487	.	3.747070	0.03398	U	0.202964	T	0.50497	0.1619	.	.	.	0.21627	N	0.999619	P	0.34934	0.476	B	0.26614	0.071	T	0.42344	-0.9457	9	0.51188	T	0.08	.	5.334	0.15947	0.0:0.5588:0.4412:0.0	.	67	Q8IWQ3-5	.	I	67	ENSP00000371614:T67I	ENSP00000371614:T67I	T	+	2	0	BRSK2	1389410	0.002000	0.14202	0.024000	0.17045	0.589000	0.36550	-0.334000	0.07883	0.011000	0.14865	0.462000	0.41574	ACC	-	BRSK2	-	pfscan_Prot_kinase_dom		0.697	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	0	0		17	17		0.00		C	NM_003957		1432834	+1	9		7		tier1	no_errors	ENST00000382179	ensembl	human	known	74_37	missense	56.25		SNP	0.420	T	9	7
SCEL	8796	genome.wustl.edu	37	13	78171701	78171701	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:78171701C>T	ENST00000349847.3	+	13	858	c.774C>T	c.(772-774)atC>atT	p.I258I	SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Silent_p.I238I|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000535157.1_Silent_p.I236I	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	258	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATAATCTCATCAAAATGAACA	0.313													ENSG00000136155																																					0													96.0	93.0	94.0					13																	78171701		2189	4294	6483	SO:0001819	synonymous_variant	0			-	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.774C>T	13.37:g.78171701C>T			B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.I258	ENST00000349847.3	37	c.774	CCDS9459.1	13																																																																																			-	SCEL	-	NULL		0.313	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	0	0		91	91		0.00		C	NM_144777		78171701	+1	18		51		tier1	no_errors	ENST00000349847	ensembl	human	known	74_37	silent	26.09		SNP	0.999	T	18	51
ARHGEF1	9138	genome.wustl.edu	37	19	42396237	42396237	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42396237G>A	ENST00000354532.3	+	5	472				ARHGEF1_ENST00000347545.4_Intron|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000337665.4_Intron|ARHGEF1_ENST00000599846.1_Intron	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ATCCCTGTTTGGGCCTGCAGA	0.622													ENSG00000076928																																					0													35.0	33.0	34.0					19																	42396237		2203	4300	6503	SO:0001627	intron_variant	0			-	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.324+43G>A	19.37:g.42396237G>A			O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	R	SNP	-	NULL	ENST00000354532.3	37	NULL	CCDS12591.1	19																																																																																			-	ARHGEF1	-	-		0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	0	0		21	21		0.00		G	NM_199002		42396237	+1	8		14		tier1	no_errors	ENST00000596957	ensembl	human	known	74_37	rna	36.36		SNP	0.000	A	8	14
CDH23	64072	genome.wustl.edu	37	10	73337680	73337680	+	Missense_Mutation	SNP	G	G	A	rs543416458		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:73337680G>A	ENST00000224721.6	+	8	783	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	CDH23_ENST00000398809.4_Missense_Mutation_p.V255M|CDH23_ENST00000398842.3_Missense_Mutation_p.V255M|CDH23_ENST00000461841.3_Missense_Mutation_p.V300M|CDH23_ENST00000299366.7_Missense_Mutation_p.V300M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCACGACGGTGCGCATCAT	0.582													ENSG00000107736	G|||	1	0.000199681	0.0	0.0	5008	,	,		19609	0.001		0.0	False		,,,				2504	0.0																0													58.0	65.0	63.0					10																	73337680		2024	4181	6205	SO:0001583	missense	0			-	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.778G>A	10.37:g.73337680G>A	ENSP00000224721:p.Val260Met		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V300M	ENST00000224721.6	37	c.898		10	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776850	0.90195	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.59772	0.24;0.24	5.79	5.79	0.91817	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000018	D	0.84334	0.5449	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.88806	0.3288	10	0.87932	D	0	.	18.2205	0.89899	0.0:0.0:1.0:0.0	.	255;255;255	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	M	260;255;255;255;255;260;260;172	ENSP00000381789:V255M;ENSP00000381822:V255M	ENSP00000224721:V260M	V	+	1	0	CDH23	73007686	1.000000	0.71417	0.935000	0.37517	0.981000	0.71138	7.855000	0.86950	2.733000	0.93635	0.655000	0.94253	GTG	-	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	0	0		51	51		0.00		G	NM_052836		73337680	+1	23		26		tier1	no_errors	ENST00000461841	ensembl	human	known	74_37	missense	46.94		SNP	0.999	A	23	26
PLIN5	440503	genome.wustl.edu	37	19	4533973	4533973	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:4533973G>A	ENST00000381848.3	-	2	141				CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000592610.1_Silent_p.V38V|PLIN5_ENST00000586133.1_Silent_p.V38V	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5						lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCCTAGAAGGGACTGTCCCAC	0.572													ENSG00000214456																																					0													43.0	41.0	42.0					19																	4533973		692	1591	2283	SO:0001627	intron_variant	0			-	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.60+53C>T	19.37:g.4533973G>A			A2RRC1|Q6ZS68	Silent	SNP	NULL	p.V38	ENST00000381848.3	37	c.114	CCDS42473.1	19																																																																																			-	PLIN5	-	NULL		0.572	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	0	0		32	32		0.00		G	NM_001013706		4533973	-1	6		27		tier1	no_errors	ENST00000586133	ensembl	human	putative	74_37	silent	18.18		SNP	0.000	A	6	27
BMP5	653	genome.wustl.edu	37	6	55739214	55739214	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:55739214A>C	ENST00000370830.3	-	1	1148	c.450T>G	c.(448-450)ttT>ttG	p.F150L	BMP5_ENST00000446683.2_Missense_Mutation_p.F150L	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	150					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATCATTCAGAAAGTTGGTAT	0.448													ENSG00000112175																																					0													109.0	102.0	105.0					6																	55739214		2203	4300	6503	SO:0001583	missense	0			-		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.450T>G	6.37:g.55739214A>C	ENSP00000359866:p.Phe150Leu		B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.F150L	ENST00000370830.3	37	c.450	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517224	0.44763	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71579	-0.58;-0.26	5.96	4.81	0.61882	Transforming growth factor-beta, N-terminal (1);	0.047461	0.85682	D	0.000000	T	0.58935	0.2157	L	0.59912	1.85	0.58432	D	0.999994	P;B	0.39551	0.678;0.432	P;B	0.44696	0.458;0.344	T	0.63825	-0.6549	10	0.54805	T	0.06	.	9.0464	0.36349	0.8599:0.0:0.1401:0.0	.	150;150	B4E0Y4;P22003	.;BMP5_HUMAN	L	150	ENSP00000359866:F150L;ENSP00000391818:F150L	ENSP00000359866:F150L	F	-	3	2	BMP5	55847173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.652000	0.54439	1.088000	0.41272	0.528000	0.53228	TTT	-	BMP5	-	pfam_TGF-b_N		0.448	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	0	0		68	68		0.00		A			55739214	-1	10		49		tier1	no_errors	ENST00000370830	ensembl	human	known	74_37	missense	16.95		SNP	1.000	C	10	49
CNTN4	152330	genome.wustl.edu	37	3	3085331	3085331	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:3085331C>T	ENST00000397461.1	+	22	3138	c.2754C>T	c.(2752-2754)atC>atT	p.I918I	CNTN4_ENST00000427331.1_Silent_p.I918I|CNTN4_ENST00000358480.3_Silent_p.I699I|CNTN4_ENST00000397459.2_Silent_p.I590I|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Silent_p.I918I|CNTN4_ENST00000448906.2_Silent_p.I590I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	918	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAAAATTATCCTGAATTGGG	0.378													ENSG00000144619																																					0													68.0	70.0	69.0					3																	3085331		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2754C>T	3.37:g.3085331C>T			B2RAX3|Q8IX14|Q8TC35	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I918	ENST00000397461.1	37	c.2754	CCDS43041.1	3																																																																																			-	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	0	0		135	135		0.00		C			3085331	+1	70		96		tier1	no_errors	ENST00000397461	ensembl	human	known	74_37	silent	42.17		SNP	0.998	T	70	96
MEGF9	1955	genome.wustl.edu	37	9	123476543	123476548	+	In_Frame_Del	DEL	CGGCGG	CGGCGG	-	rs200946879|rs369989873	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	CGGCGG	CGGCGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:123476543_123476548delCGGCGG	ENST00000373930.3	-	1	200_205	c.89_94delCCGCCG	c.(88-96)gccgccgtc>gtc	p.AA30del	MEGF9_ENST00000426959.1_In_Frame_Del_p.AA22del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	30	Ala-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						gctgaggcgacggcggcggcggcggc	0.782													ENSG00000106780		3349	0.66873	0.6044	0.7637	5008	,	,		7106	0.5853		0.7058	False		,,,				2504	0.7362																0										26,6		13,0,3						2.8	0.2		dbSNP_119	1	80,32		39,2,15	no	coding	MEGF9	NM_001080497.2		52,2,18	A1A1,A1R,RR		28.5714,18.75,26.3889				106,38				SO:0001651	inframe_deletion	0				AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.89_94delCCGCCG	9.37:g.123476549_123476554delCGGCGG	ENSP00000363040:p.Ala30_Ala31del		B7Z315|O75098	In_Frame_Del	DEL	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	p.AA22in_frame_del	ENST00000373930.3	37	c.70_65	CCDS48010.2	9																																																																																				MEGF9	-	NULL		0.782	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	HGNC	protein_coding	OTTHUMT00000055513.1									CGGCGG	NM_001080497		123476548	-1					tier1	no_errors	ENST00000426959	ensembl	human	known	74_37	in_frame_del			DEL	0.255:0.243:0.247:0.263:0.993:0.998	-		
HSD3B1	3283	genome.wustl.edu	37	1	120050144	120050144	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:120050144G>A	ENST00000369413.3	+	2	190	c.45G>A	c.(43-45)ctG>ctA	p.L15L	HSD3B1_ENST00000528909.1_Silent_p.L15L|HSD3B1_ENST00000235547.6_Silent_p.L17L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	15					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GAGGGTTTCTGGGACAGAGGA	0.537													ENSG00000203857																																					0													108.0	98.0	101.0					1																	120050144		2203	4300	6503	SO:0001819	synonymous_variant	0			-	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.45G>A	1.37:g.120050144G>A			A8K691|Q14545|Q8IV65	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.L17	ENST00000369413.3	37	c.51	CCDS903.1	1																																																																																			-	HSD3B1	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA		0.537	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	HGNC	protein_coding	OTTHUMT00000034993.3	0	0		104	104		0.00		G	NM_000862		120050144	+1	28		109		tier1	no_errors	ENST00000235547	ensembl	human	known	74_37	silent	20.44		SNP	1.000	A	28	109
TARBP1	6894	genome.wustl.edu	37	1	234561434	234561434	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:234561434G>A	ENST00000040877.1	-	20	3428	c.3429C>T	c.(3427-3429)atC>atT	p.I1143I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1143					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAATAGCTTGATTGCAAGAT	0.323													ENSG00000059588																																					0													64.0	66.0	65.0					1																	234561434		2201	4297	6498	SO:0001819	synonymous_variant	0			-		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3429C>T	1.37:g.234561434G>A			Q9H581	Silent	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.I1143	ENST00000040877.1	37	c.3429	CCDS1601.1	1																																																																																			-	TARBP1	-	superfamily_ARM-type_fold		0.323	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	0	0		83	83		0.00		G	NM_005646		234561434	-1	24		64		tier1	no_errors	ENST00000040877	ensembl	human	novel	74_37	silent	27.27		SNP	1.000	A	24	64
CLSTN2	64084	genome.wustl.edu	37	3	140178487	140178487	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140178487C>T	ENST00000458420.3	+	7	1288	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	RP11-68L1.1_ENST00000483759.2_RNA|RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	366			V -> I (in dbSNP:rs7632885). {ECO:0000269|PubMed:12498782, ECO:0000269|PubMed:12972431, ECO:0000269|Ref.5}.		homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGCCAAAGTCCCCGATGGGA	0.572										HNSCC(16;0.037)			ENSG00000158258																									GBM(45;858 913 3709 36904 37282)												0													82.0	69.0	74.0					3																	140178487		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1098C>T	3.37:g.140178487C>T			B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V366	ENST00000458420.3	37	c.1098	CCDS3112.1	3																																																																																			-	CLSTN2	-	superfamily_ConA-like_lec_gl_sf		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	0	0		70	70		0.00		C	NM_022131		140178487	+1	28		47		tier1	no_errors	ENST00000458420	ensembl	human	known	74_37	silent	37.33		SNP	0.973	T	28	47
CSMD2	114784	genome.wustl.edu	37	1	34090845	34090845	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:34090845C>T	ENST00000373380.1	-	13	2145	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1769Q|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1729	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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)				GGCGCTGGTTCGAGGAACCGC	0.632													ENSG00000121904																																					0													40.0	33.0	35.0					1																	34090845		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	ENST00000373380.1:c.1925G>A	1.37:g.34090845C>T	ENSP00000362478:p.Arg642Gln		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.R1769Q	ENST00000373380.1	37	c.5306		1	.	.	.	.	.	.	.	.	.	.	C	33	5.276622	0.95459	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.25912	1.77;2.2	6.17	6.17	0.99709	.	0.070929	0.56097	D	0.000032	T	0.33760	0.0874	L	0.39245	1.2	0.80722	D	1	B;P;P	0.49253	0.284;0.843;0.921	B;B;P	0.49853	0.064;0.185;0.624	T	0.00244	-1.1883	10	0.32370	T	0.25	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	642;1729;1769	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1769;642	ENSP00000362479:R1769Q;ENSP00000362478:R642Q	ENSP00000241312:R1729Q	R	-	2	0	CSMD2	33863432	1.000000	0.71417	0.984000	0.44739	0.723000	0.41478	5.950000	0.70265	2.941000	0.99782	0.655000	0.94253	CGA	-	CSMD2	-	NULL		0.632	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	0	0		18	18		0.00		C	NM_052896		34090845	-1	9		14		tier1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	39.13		SNP	0.994	T	9	14
SH3BP5L	80851	genome.wustl.edu	37	1	249105793	249105793	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:249105793G>A	ENST00000366472.5	-	0	2717				SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like											endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGAGGGAGCAGAAAGGGAAAG	0.542													ENSG00000175137																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.*306C>T	1.37:g.249105793G>A			B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	R	SNP	-	NULL	ENST00000366472.5	37	NULL	CCDS31126.1	1																																																																																			-	SH3BP5L	-	-		0.542	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	HGNC	protein_coding	OTTHUMT00000097140.1	0	0		27	27		0.00		G	NM_030645		249105793	-1	11		52		tier1	no_errors	ENST00000475978	ensembl	human	known	74_37	rna	17.46		SNP	0.005	A	11	52
LAMA3	3909	genome.wustl.edu	37	18	21437869	21437869	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:21437869C>T	ENST00000313654.9	+	33	4439	c.4198C>T	c.(4198-4200)Cct>Tct	p.P1400S	LAMA3_ENST00000399516.3_Missense_Mutation_p.P1400S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1400	Domain III B.|Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTACCGCTTTCCTGAGTGTGT	0.522													ENSG00000053747																																					0													158.0	159.0	159.0					18																	21437869		2028	4180	6208	SO:0001583	missense	0			-	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4198C>T	18.37:g.21437869C>T	ENSP00000324532:p.Pro1400Ser		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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.P1400S	ENST00000313654.9	37	c.4198	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039563	0.93630	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.61742	0.08;0.08	5.43	5.43	0.79202	EGF-like, laminin (4);	.	.	.	.	T	0.74543	0.3730	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75167	-0.3413	9	0.62326	D	0.03	.	19.6064	0.95583	0.0:1.0:0.0:0.0	.	1400;1400	Q6VU67;Q16787	.;LAMA3_HUMAN	S	1400;1400;1398	ENSP00000324532:P1400S;ENSP00000382432:P1400S	ENSP00000324532:P1400S	P	+	1	0	LAMA3	19691867	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	7.253000	0.78320	2.710000	0.92621	0.561000	0.74099	CCT	-	LAMA3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.522	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	0	0		85	85		0.00		C	NM_000227, NM_198129		21437869	+1	16		87		tier1	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	15.53		SNP	1.000	T	16	87
BAALC-AS2	157556	genome.wustl.edu	37	8	104145533	104145533	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:104145533T>C	ENST00000436771.1	-	2	153	c.40A>G	c.(40-42)Aga>Gga	p.R14G	KB-1639H6.4_ENST00000503718.2_RNA|C8orf56_ENST00000521246.1_Missense_Mutation_p.R14G																							GCCCCCACTCTTTTTGTCTTG	0.552													ENSG00000236939																																					0																																										SO:0001583	missense	0			-																												ENST00000436771.1:c.40A>G	8.37:g.104145533T>C	ENSP00000401738:p.Arg14Gly			Missense_Mutation	SNP	NULL	p.R14G	ENST00000436771.1	37	c.40		8	.	.	.	.	.	.	.	.	.	.	T	7.933	0.741189	0.15642	.	.	ENSG00000236939	ENST00000436771;ENST00000521246	.	.	.	1.91	1.91	0.25777	.	.	.	.	.	T	0.22399	0.0540	.	.	.	0.09310	N	1	P	0.34977	0.478	B	0.25987	0.065	T	0.17531	-1.0366	7	0.87932	D	0	.	5.8221	0.18534	0.0:0.0:0.0:1.0	.	14	P0C853	CH056_HUMAN	G	14	.	ENSP00000401738:R14G	R	-	1	2	C8orf56	104214709	0.000000	0.05858	0.001000	0.08648	0.381000	0.30169	-0.939000	0.03933	1.109000	0.41680	0.254000	0.18369	AGA	-	C8orf56	-	NULL		0.552	C8orf56-001	KNOWN	basic|appris_principal	protein_coding	C8orf56	HGNC	protein_coding	OTTHUMT00000380253.1	0	0		60	60		0.00		T			104145533	-1	17		47		tier1	no_errors	ENST00000436771	ensembl	human	known	74_37	missense	26.56		SNP	0.001	C	17	47
DNMT3B	1789	genome.wustl.edu	37	20	31389085	31389085	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:31389085G>A	ENST00000328111.2	+	19	2319	c.1998G>A	c.(1996-1998)gaG>gaA	p.E666E	DNMT3B_ENST00000344505.4_Splice_Site_p.E646E|DNMT3B_ENST00000201963.3_Splice_Site_p.E658E|DNMT3B_ENST00000443239.3_Splice_Site_p.E604E|DNMT3B_ENST00000348286.2_Splice_Site_p.E646E|DNMT3B_ENST00000456297.2_Splice_Site_p.E570E|DNMT3B_ENST00000353855.2_Splice_Site_p.E646E	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	666	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGCACAGAGGGTACAGGCC	0.527													ENSG00000088305																																					0													58.0	55.0	56.0					20																	31389085		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1997-1G>A	20.37:g.31389085G>A			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.E666	ENST00000328111.2	37	c.1998	CCDS13205.1	20																																																																																			-	DNMT3B	-	pfam_C5_MeTfrase		0.527	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	HGNC	protein_coding	OTTHUMT00000078643.2	0	0		72	72		0.00		G	NM_006892	Silent	31389085	+1	12		94		tier1	no_errors	ENST00000328111	ensembl	human	known	74_37	silent	11.32		SNP	1.000	A	12	94
MAST1	22983	genome.wustl.edu	37	19	12962986	12962986	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12962986G>A	ENST00000251472.4	+	9	973	c.934G>A	c.(934-936)Gag>Aag	p.E312K	MAST1_ENST00000591495.1_Missense_Mutation_p.E308K	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACACGCCAAGGAGGGCCACCT	0.667													ENSG00000105613																																					0													62.0	69.0	66.0					19																	12962986		2203	4300	6503	SO:0001583	missense	0			-	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.934G>A	19.37:g.12962986G>A	ENSP00000251472:p.Glu312Lys			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.E312K	ENST00000251472.4	37	c.934	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.734192	0.96865	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.29655	1.56	5.49	5.49	0.81192	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.87682	2.9	0.58432	D	0.999993	D;P	0.71674	0.998;0.562	D;B	0.73708	0.981;0.413	T	0.66252	-0.5970	10	0.59425	D	0.04	-32.2785	17.246	0.87028	0.0:0.0:1.0:0.0	.	312;312	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	K	312	ENSP00000251472:E312K	ENSP00000251472:E312K	E	+	1	0	MAST1	12823986	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.796000	0.99103	2.765000	0.95021	0.591000	0.81541	GAG	-	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom		0.667	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	0	0		39	39		0.00		G	NM_014975		12962986	+1	20		23		tier1	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	46.51		SNP	1.000	A	20	23
TNXB	7148	genome.wustl.edu	37	6	32017937	32017937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32017937G>A	ENST00000375244.3	-	27	9478	c.9277C>T	c.(9277-9279)Cag>Tag	p.Q3093*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.Q3091*			P22105	TENX_HUMAN	tenascin XB	3138					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCCTGTACTGGACCAGGAAG	0.637													ENSG00000168477																																					0													62.0	67.0	65.0					6																	32017937		1215	2520	3735	SO:0001587	stop_gained	0			-	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9277C>T	6.37:g.32017937G>A	ENSP00000364393:p.Gln3093*		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.Q3091*	ENST00000375244.3	37	c.9271		6	.	.	.	.	.	.	.	.	.	.	g	51	18.304589	0.99903	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	.	.	.	3.59	3.59	0.41128	.	0.000000	0.44688	D	0.000427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	12.2757	0.54733	0.0:0.0:1.0:0.0	.	.	.	.	X	3093;3091	.	ENSP00000364393:Q3093X	Q	-	1	0	TNXB	32125915	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.825000	0.62708	1.832000	0.53329	0.456000	0.33151	CAG	-	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	0	0		54	54		0.00		G	NM_019105		32017937	-1	11		46		tier1	no_errors	ENST00000375247	ensembl	human	known	74_37	nonsense	19.30		SNP	1.000	A	11	46
B3GAT1	27087	genome.wustl.edu	37	11	134254068	134254068	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:134254068G>A	ENST00000524765.1	-	3	4671	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	B3GAT1_ENST00000312527.4_Missense_Mutation_p.P43S|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P43S|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P56S|B3GAT1_ENST00000531510.1_5'UTR			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	43					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TCGCGTCGGGGGTCACTGCCC	0.706													ENSG00000109956																																					0													21.0	16.0	18.0					11																	134254068		2126	4156	6282	SO:0001583	missense	0			-	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.127C>T	11.37:g.134254068G>A	ENSP00000433847:p.Pro43Ser		Q96FS7	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.P56S	ENST00000524765.1	37	c.166	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	G	0.103	-1.149405	0.01714	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.61980	0.06;0.06;0.06;0.07	4.7	-0.37	0.12530	.	0.560115	0.20087	N	0.099531	T	0.25568	0.0622	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19778	-1.0295	10	0.05620	T	0.96	-17.2928	2.2438	0.04026	0.2418:0.4448:0.1746:0.1388	.	56;43	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	S	43;43;43;56	ENSP00000376359:P43S;ENSP00000307875:P43S;ENSP00000433847:P43S;ENSP00000445983:P56S	ENSP00000307875:P43S	P	-	1	0	B3GAT1	133759278	0.963000	0.33076	0.744000	0.31058	0.165000	0.22458	0.668000	0.25127	0.403000	0.25479	0.491000	0.48974	CCC	-	B3GAT1	-	NULL		0.706	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	0	0		9	9		0.00		G	NM_018644		134254068	-1	5		7		tier1	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	41.67		SNP	0.037	A	5	7
LTBP4	8425	genome.wustl.edu	37	19	41119327	41119327	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41119327G>A	ENST00000308370.7	+	20	2650	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_5'Flank|LTBP4_ENST00000545697.1_Missense_Mutation_p.E337K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E847K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E817K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	884	Cys-rich.|EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGTGCCTGGAGGGCGATTT	0.667													ENSG00000090006																																					0													28.0	30.0	29.0					19																	41119327		2073	4197	6270	SO:0001583	missense	0			-	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2650G>A	19.37:g.41119327G>A	ENSP00000311905:p.Glu884Lys		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.E884K	ENST00000308370.7	37	c.2650		19	.	.	.	.	.	.	.	.	.	.	G	35	5.514001	0.96402	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000546155	D;D;D;D	0.92048	-2.2;-2.96;-2.2;-2.2	5.69	5.69	0.88448	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.40554	N	0.001079	D	0.93726	0.7995	L	0.40543	1.245	0.80722	D	1	D;D;D;D;D	0.76494	0.976;0.98;0.999;0.999;0.999	P;P;D;D;D	0.87578	0.626;0.714;0.998;0.998;0.998	D	0.90759	0.4663	10	0.15952	T	0.53	.	18.5659	0.91116	0.0:0.0:1.0:0.0	.	172;104;817;884;847	B7Z8L2;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	K	847;337;884;817;172	ENSP00000204005:E847K;ENSP00000441054:E337K;ENSP00000311905:E884K;ENSP00000380031:E817K	ENSP00000204005:E847K	E	+	1	0	LTBP4	45811167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.909000	0.56363	2.690000	0.91761	0.655000	0.94253	GAG	-	LTBP4	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.667	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		0	0		38	38		0.00		G	NM_003573		41119327	+1	35		37		tier1	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	48.61		SNP	1.000	A	35	37
MMP15	4324	genome.wustl.edu	37	16	58079137	58079137	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:58079137G>A	ENST00000219271.3	+	10	2582	c.1797G>A	c.(1795-1797)ggG>ggA	p.G599G		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	599					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	ATGGGGATGGGGACTTTGGGG	0.726													ENSG00000102996																																					0													56.0	66.0	63.0					16																	58079137		2195	4298	6493	SO:0001819	synonymous_variant	0			-	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1797G>A	16.37:g.58079137G>A			A0A2U6|Q14111	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.G599	ENST00000219271.3	37	c.1797	CCDS10792.1	16																																																																																			-	MMP15	-	NULL		0.726	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	HGNC	protein_coding	OTTHUMT00000257342.1	0	0		52	52		0.00		G	NM_002428		58079137	+1	47		29		tier1	no_errors	ENST00000219271	ensembl	human	known	74_37	silent	61.84		SNP	0.003	A	47	29
SMIM3	85027	genome.wustl.edu	37	5	150158214	150158214	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:150158214C>T	ENST00000526627.1	+	0	707				AC010441.1_ENST00000600109.1_Missense_Mutation_p.S28F	NM_032947.4	NP_116565.3	Q9BZL3	SMIM3_HUMAN	small integral membrane protein 3							integral component of membrane (GO:0016021)											ctcGCAGGTTCCTTTCTCCCC	0.697													ENSG00000269636																																					0													19.0	26.0	24.0					5																	150158214		1498	3086	4584	SO:0001623	5_prime_UTR_variant	0			-	AF313413	CCDS47312.1, CCDS47312.2	5q33.1	2012-10-01	2012-10-01	2012-10-01	ENSG00000256235	ENSG00000256235			30248	protein-coding gene	gene with protein product		608324	"""chromosome 5 open reading frame 62"""	C5orf62		11288140	Standard	NM_032947		Approved	MSTP150, NID67	uc003lsw.3	Q9BZL3	OTTHUMG00000163646	ENST00000526627.1:c.-332C>T	5.37:g.150158214C>T			Q3MIG3|Q6ZUV4	Missense_Mutation	SNP	NULL	p.S28F	ENST00000526627.1	37	c.83	CCDS47312.2	5																																																																																			-	AC010441.1	-	NULL		0.697	SMIM3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENSG00000269636	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000374647.2	0	0		67	67		0.00		C	NM_032947		150158214	+1	27		60		tier1	no_errors	ENST00000600109	ensembl	human	known	74_37	missense	31.03		SNP	0.000	T	27	60
NUP85	79902	genome.wustl.edu	37	17	73227683	73227683	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73227683G>A	ENST00000245544.4	+	13	1265	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	NUP85_ENST00000579298.1_Missense_Mutation_p.M353I|NUP85_ENST00000447371.2_Missense_Mutation_p.M230I|NUP85_ENST00000541827.1_Missense_Mutation_p.M352I|NUP85_ENST00000540768.1_Start_Codon_SNP_p.M1I|NUP85_ENST00000579324.1_Missense_Mutation_p.M286I	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	398					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GTTCCAACATGAGAGAGTTCC	0.552													ENSG00000125450																																					0													131.0	137.0	135.0					17																	73227683		2203	4300	6503	SO:0001583	missense	0			-	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1194G>A	17.37:g.73227683G>A	ENSP00000245544:p.Met398Ile		B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup85	p.M398I	ENST00000245544.4	37	c.1194	CCDS32730.1	17	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770190	0.69992	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.38	5.38	0.77491	.	0.039136	0.85682	D	0.000000	T	0.56485	0.1988	L	0.38175	1.15	0.58432	D	0.999999	B;B	0.27192	0.171;0.171	B;B	0.31337	0.128;0.118	T	0.50206	-0.8855	9	0.21540	T	0.41	-33.4228	19.4864	0.95030	0.0:0.0:1.0:0.0	.	352;398	B4DMQ3;Q9BW27	.;NUP85_HUMAN	I	398;352;230;1	.	ENSP00000245544:M398I	M	+	3	0	NUP85	70739278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.754000	0.68743	2.687000	0.91594	0.561000	0.74099	ATG	-	NUP85	-	pfam_Nucleoporin_Nup85		0.552	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	0	0		33	33		0.00		G	NM_024844		73227683	+1	16		24		tier1	no_errors	ENST00000245544	ensembl	human	known	74_37	missense	40.00		SNP	1.000	A	16	24
KHDC3L	154288	genome.wustl.edu	37	6	74072498	74072498	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:74072498C>T	ENST00000370367.3	+	1	99	c.46C>T	c.(46-48)Cca>Tca	p.P16S		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	16							RNA binding (GO:0003723)										ACTGATGCAGCCAAAAGCAAT	0.592													ENSG00000203908																																					0													82.0	75.0	77.0					6																	74072498		2203	4300	6503	SO:0001583	missense	0			-	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.46C>T	6.37:g.74072498C>T	ENSP00000359392:p.Pro16Ser		B2RNW7	Missense_Mutation	SNP	NULL	p.P16S	ENST00000370367.3	37	c.46	CCDS34484.1	6	.	.	.	.	.	.	.	.	.	.	C	9.939	1.216916	0.22373	.	.	ENSG00000203908	ENST00000370367	T	0.45276	0.9	3.53	-0.629	0.11533	.	0.808890	0.10176	N	0.706487	T	0.09291	0.0229	N	0.14661	0.345	0.09310	N	1	B	0.26195	0.144	B	0.26770	0.073	T	0.33111	-0.9881	10	0.52906	T	0.07	-1.7698	6.0706	0.19887	0.3523:0.2992:0.3485:0.0	.	16	Q587J8	ECAT1_HUMAN	S	16	ENSP00000359392:P16S	ENSP00000359392:P16S	P	+	1	0	C6orf221	74129219	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.593000	0.05740	-0.143000	0.11334	0.561000	0.74099	CCA	-	KHDC3L	-	NULL		0.592	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC3L	HGNC	protein_coding	OTTHUMT00000041202.3	0	0		53	53		0.00		C	NM_001017361		74072498	+1	11		54		tier1	no_errors	ENST00000370367	ensembl	human	known	74_37	missense	16.92		SNP	0.002	T	11	54
GADD45G	10912	genome.wustl.edu	37	9	92220181	92220181	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:92220181G>A	ENST00000252506.6	+	1	162				GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_5'UTR	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma						activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						GGGGAGCGCGGGGGTCCGGGC	0.692													ENSG00000130222																									Colon(131;320 2336 18973 23919)												0																																										SO:0001627	intron_variant	0			-	D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"""gadd-related protein, 17 kD"", ""growth arrest and DNA-damage-inducible gamma"""	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.53+92G>A	9.37:g.92220181G>A			Q5VZ87|Q9C076	R	SNP	-	NULL	ENST00000252506.6	37	NULL	CCDS6686.1	9																																																																																			-	GADD45G	-	-		0.692	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45G	HGNC	protein_coding	OTTHUMT00000053000.1	0	0		41	41		0.00		G	NM_006705		92220181	+1	12		38		tier1	no_errors	ENST00000494726	ensembl	human	known	74_37	rna	24.00		SNP	0.000	A	12	38
COL4A3	1285	genome.wustl.edu	37	2	228104874	228104874	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:228104874C>T	ENST00000396578.3	+	3	322	c.160C>T	c.(160-162)Cct>Tct	p.P54S	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	54	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGGGCTTTCCTGGACCCCC	0.502													ENSG00000169031																																					0													51.0	53.0	52.0					2																	228104874		1889	4125	6014	SO:0001583	missense	0			-		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.160C>T	2.37:g.228104874C>T	ENSP00000379823:p.Pro54Ser		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P54S	ENST00000396578.3	37	c.160	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412277	0.62511	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97665	-4.48	5.87	5.87	0.94306	.	0.112285	0.41097	D	0.000960	D	0.98099	0.9373	M	0.79614	2.46	0.36485	D	0.86806	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.967;0.982;0.999;0.995	D	0.99271	1.0893	10	0.21014	T	0.42	.	15.7708	0.78167	0.0:1.0:0.0:0.0	.	54;54;54;54	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	S	54	ENSP00000379823:P54S	ENSP00000323334:P54S	P	+	1	0	COL4A3	227813118	0.530000	0.26330	0.447000	0.26932	0.402000	0.30811	1.140000	0.31516	2.792000	0.96026	0.650000	0.86243	CCT	-	COL4A3	-	pfam_Collagen		0.502	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	0	0		52	52		0.00		C	NM_000091		228104874	+1	22		40		tier1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	35.48		SNP	0.853	T	22	40
ACSM2B	348158	genome.wustl.edu	37	16	20554275	20554275	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:20554275C>T	ENST00000329697.6	-	12	1638	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E	ACSM2B_ENST00000565322.1_Silent_p.E411E|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565232.1_Silent_p.E490E|ACSM2B_ENST00000567001.1_Silent_p.E490E	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	490					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						TCACAGCCGTCTCAACCACAG	0.557													ENSG00000066813																																					0													105.0	101.0	102.0					16																	20554275		2201	4299	6500	SO:0001819	synonymous_variant	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.1470G>A	16.37:g.20554275C>T			Q86YT1	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.E490	ENST00000329697.6	37	c.1470	CCDS10586.1	16																																																																																			-	ACSM2B	-	pfam_AMP-dep_Synth/Lig		0.557	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	0	0		87	87		0.00		C	NM_182617		20554275	-1	26		115		tier1	no_errors	ENST00000329697	ensembl	human	known	74_37	silent	18.31		SNP	0.736	T	26	115
PCMT1	5110	genome.wustl.edu	37	6	150114782	150114782	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:150114782C>T	ENST00000367380.5	+	5	602	c.395C>T	c.(394-396)tCt>tTt	p.S132F	PCMT1_ENST00000464889.1_Missense_Mutation_p.S190F|PCMT1_ENST00000367384.2_Missense_Mutation_p.S190F|PCMT1_ENST00000544496.1_Missense_Mutation_p.S97F|PCMT1_ENST00000367378.1_Missense_Mutation_p.S190F|RP11-350J20.5_ENST00000455607.2_RNA	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	132					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		ACACTTCTGTCTTCAGGGAGA	0.353													ENSG00000120265																																					0													77.0	77.0	77.0					6																	150114782		2203	4300	6503	SO:0001583	missense	0			-		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.395C>T	6.37:g.150114782C>T	ENSP00000356350:p.Ser132Phe		A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	pfam_PCMT,tigrfam_PCMT	p.S190F	ENST00000367380.5	37	c.569		6	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402426	0.83230	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496	T;T;T;T;T	0.46451	0.97;0.97;0.97;0.97;0.87	5.77	4.9	0.64082	.	0.199736	0.53938	D	0.000052	T	0.34454	0.0898	M	0.62723	1.935	0.54753	D	0.999982	B;P;P	0.40431	0.407;0.673;0.717	B;B;B	0.41619	0.361;0.301;0.308	T	0.36841	-0.9731	10	0.66056	D	0.02	-10.1199	16.8084	0.85712	0.0:0.8711:0.1289:0.0	.	97;132;132	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	F	190;190;190;132;97	ENSP00000356354:S190F;ENSP00000356348:S190F;ENSP00000420813:S190F;ENSP00000356350:S132F;ENSP00000438247:S97F	ENSP00000356348:S190F	S	+	2	0	PCMT1	150156475	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.684000	0.84104	1.421000	0.47157	0.591000	0.81541	TCT	-	PCMT1	-	pfam_PCMT,tigrfam_PCMT		0.353	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	PCMT1	HGNC	protein_coding		0	0		112	112		0.00		C			150114782	+1	48		76		tier1	no_errors	ENST00000367384	ensembl	human	known	74_37	missense	38.10		SNP	1.000	T	48	76
CNBD1	168975	genome.wustl.edu	37	8	88298887	88298887	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:88298887C>T	ENST00000518476.1	+	8	1081	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	344										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAAAAAATTTCCTCCAGGTCA	0.289													ENSG00000176571																																					0													53.0	47.0	49.0					8																	88298887		1693	3765	5458	SO:0001583	missense	0			-	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1030C>T	8.37:g.88298887C>T	ENSP00000430073:p.Pro344Ser			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.P344S	ENST00000518476.1	37	c.1030	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152018	0.57151	.	.	ENSG00000176571	ENST00000518476	D	0.92752	-3.1	5.49	3.7	0.42460	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.532999	0.17325	N	0.178339	D	0.93367	0.7885	M	0.66939	2.045	0.29890	N	0.825293	D	0.67145	0.996	P	0.60345	0.873	D	0.88167	0.2861	10	0.37606	T	0.19	-11.9095	8.1105	0.30911	0.0:0.8166:0.0:0.1834	.	344	Q8NA66	CNBD1_HUMAN	S	344	ENSP00000430073:P344S	ENSP00000430073:P344S	P	+	1	0	CNBD1	88368003	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.580000	0.36547	0.799000	0.34018	0.655000	0.94253	CCT	-	CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom		0.289	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	0	0		136	136		0.00		C	NM_173538		88298887	+1	50		79		tier1	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	38.46		SNP	1.000	T	50	79
THOC3	84321	genome.wustl.edu	37	5	175387067	175387067	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:175387067G>A	ENST00000265097.4	-	6	1051	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	THOC3_ENST00000510300.1_5'Flank|RP11-91H12.4_ENST00000502813.1_RNA|THOC3_ENST00000514861.1_Silent_p.L136L	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	321					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AATGCCAGCAGAGGCCTTTTG	0.498													ENSG00000051596																																					0													61.0	65.0	64.0					5																	175387067		2202	4298	6500	SO:0001819	synonymous_variant	0			-	BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.961C>T	5.37:g.175387067G>A			Q6NZ53	Silent	SNP	pfam_WD40_repeat,pfam_TIF_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L321	ENST00000265097.4	37	c.961	CCDS4397.1	5																																																																																			-	THOC3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.498	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	0	0		69	69		0.00		G			175387067	-1	18		61		tier1	no_errors	ENST00000265097	ensembl	human	known	74_37	silent	22.78		SNP	1.000	A	18	61
TCHHL1	126637	genome.wustl.edu	37	1	152058558	152058558	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152058558C>T	ENST00000368806.1	-	3	1664	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	534							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GACTCAGGGTCCTCCCCCTGG	0.507													ENSG00000182898																																					0													131.0	120.0	123.0					1																	152058558		2203	4300	6503	SO:0001583	missense	0			-		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1600G>A	1.37:g.152058558C>T	ENSP00000357796:p.Asp534Asn		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.D534N	ENST00000368806.1	37	c.1600	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.569671	0.45798	.	.	ENSG00000182898	ENST00000368806	T	0.31510	1.49	5.35	2.03	0.26663	.	0.530412	0.15747	N	0.246621	T	0.07863	0.0197	L	0.50333	1.59	0.09310	N	1	B	0.21452	0.056	B	0.15052	0.012	T	0.30327	-0.9982	10	0.19147	T	0.46	-3.2132	3.385	0.07268	0.0:0.5189:0.2177:0.2633	.	534	Q5QJ38	TCHL1_HUMAN	N	534	ENSP00000357796:D534N	ENSP00000357796:D534N	D	-	1	0	TCHHL1	150325182	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.564000	0.23563	0.636000	0.30508	-0.894000	0.02916	GAC	-	TCHHL1	-	NULL		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	0	0		37	37		0.00		C	XM_060104		152058558	-1	19		34		tier1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	35.85		SNP	0.001	T	19	34
ANO2	57101	genome.wustl.edu	37	12	5687149	5687149	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:5687149C>T	ENST00000356134.5	-	24	2485	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	ANO2_ENST00000327087.8_Missense_Mutation_p.G804E|ANO2_ENST00000546188.1_Missense_Mutation_p.G805E	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	809					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTTGCCAATTCCAGAGAGAAT	0.507													ENSG00000047617																																					0													134.0	131.0	132.0					12																	5687149		2003	4181	6184	SO:0001583	missense	0			-	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2414G>A	12.37:g.5687149C>T	ENSP00000348453:p.Gly805Glu		C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.G805E	ENST00000356134.5	37	c.2414		12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559012	0.86231	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.64618	-0.11;-0.11;-0.11	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	M	0.92317	3.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.84215	0.0458	10	0.32370	T	0.25	.	18.0055	0.89208	0.0:1.0:0.0:0.0	.	804	Q9NQ90-3	.	E	804;805;805;809	ENSP00000314048:G804E;ENSP00000348453:G805E;ENSP00000440981:G805E	ENSP00000314048:G804E	G	-	2	0	ANO2	5557410	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.814000	0.69208	2.598000	0.87819	0.655000	0.94253	GGA	-	ANO2	-	pfam_Anoctamin		0.507	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	0	0		32	32		0.00		C	NM_020373		5687149	-1	8		27		tier1	no_errors	ENST00000356134	ensembl	human	known	74_37	missense	22.86		SNP	1.000	T	8	27
PCDHA13	56136	genome.wustl.edu	37	5	140262754	140262754	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140262754G>A	ENST00000289272.2	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E301K|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	301	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)			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)			GAACAATGGAGAAATTAGGAC	0.378													ENSG00000239389																									Melanoma(147;1739 1852 5500 27947 37288)												0													58.0	65.0	63.0					5																	140262754		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.901G>A	5.37:g.140262754G>A	ENSP00000289272:p.Glu301Lys		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E301K	ENST00000289272.2	37	c.901	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836941	0.71373	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53206	0.63;0.63	5.58	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54240	0.1846	M	0.62723	1.935	0.29180	N	0.876598	P;P;P	0.39601	0.589;0.589;0.68	B;P;P	0.47470	0.381;0.532;0.548	T	0.54050	-0.8351	9	0.52906	T	0.07	.	10.9095	0.47099	0.0727:0.1292:0.7981:0.0	.	301;301;301	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	K	301	ENSP00000386821:E301K;ENSP00000289272:E301K	ENSP00000289272:E301K	E	+	1	0	PCDHA13	140242938	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	3.266000	0.51569	2.621000	0.88768	0.561000	0.74099	GAA	-	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	0	0		50	50		0.00		G	NM_018904		140262754	+1	13		57		tier1	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	18.57		SNP	1.000	A	13	57
USH2A	7399	genome.wustl.edu	37	1	216270490	216270490	+	Missense_Mutation	SNP	T	T	G	rs185194181	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:216270490T>G	ENST00000307340.3	-	22	5079	c.4693A>C	c.(4693-4695)Aat>Cat	p.N1565H	USH2A_ENST00000366943.2_Missense_Mutation_p.N1565H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1565	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		TCTTCCTGATTGCCAGGTGAT	0.383										HNSCC(13;0.011)			ENSG00000042781																																					0													81.0	76.0	77.0					1																	216270490		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.4693A>C	1.37:g.216270490T>G	ENSP00000305941:p.Asn1565His		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.N1565H	ENST00000307340.3	37	c.4693	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033274	0.54896	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78364	-1.17;-1.17	5.34	1.69	0.24217	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.287470	0.24209	N	0.040547	D	0.82518	0.5054	M	0.75615	2.305	0.09310	N	1	D	0.56287	0.975	P	0.58077	0.832	T	0.73304	-0.4025	10	0.49607	T	0.09	.	9.127	0.36821	0.0:0.2092:0.0:0.7908	.	1565	O75445	USH2A_HUMAN	H	1565	ENSP00000305941:N1565H;ENSP00000355910:N1565H	ENSP00000305941:N1565H	N	-	1	0	USH2A	214337113	0.924000	0.31332	0.008000	0.14137	0.932000	0.56968	1.962000	0.40442	0.026000	0.15269	0.533000	0.62120	AAT	-	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	0	0		77	77		0.00		T	NM_007123		216270490	-1	15		84		tier1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	15.15		SNP	0.092	G	15	84
MTFR1	9650	genome.wustl.edu	37	8	66605949	66605949	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:66605949T>C	ENST00000262146.4	+	4	362	c.236T>C	c.(235-237)gTt>gCt	p.V79A	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.V46A	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	79					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTTGCTGATGTTGGATGGGTA	0.418													ENSG00000066855																																					0													100.0	88.0	92.0					8																	66605949		2203	4300	6503	SO:0001583	missense	0			-		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.236T>C	8.37:g.66605949T>C	ENSP00000262146:p.Val79Ala		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.V79A	ENST00000262146.4	37	c.236	CCDS6182.1	8	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591398	0.66219	.	.	ENSG00000066855	ENST00000262146;ENST00000458689	T;T	0.61040	0.14;0.14	5.83	5.83	0.93111	.	0.229133	0.44902	D	0.000402	T	0.73473	0.3591	M	0.78456	2.415	0.45477	D	0.998441	P;D;D	0.59357	0.882;0.985;0.973	P;P;P	0.62382	0.812;0.901;0.865	T	0.75560	-0.3275	9	.	.	.	-4.2741	13.5699	0.61841	0.0:0.0:0.0:1.0	.	79;46;79	B4E3G8;E7EP84;Q15390	.;.;MTFR1_HUMAN	A	79;46	ENSP00000262146:V79A;ENSP00000391502:V46A	.	V	+	2	0	MTFR1	66768503	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	4.207000	0.58480	2.217000	0.71921	0.477000	0.44152	GTT	-	MTFR1	-	pfam_Mtfr1		0.418	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1	0	0		83	83		0.00		T	NM_014637		66605949	+1	22		72		tier1	no_errors	ENST00000262146	ensembl	human	known	74_37	missense	23.40		SNP	1.000	C	22	72
DEPDC1	55635	genome.wustl.edu	37	1	68947951	68947951	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:68947951G>A	ENST00000456315.2	-	8	1654	c.1540C>T	c.(1540-1542)Ctt>Ttt	p.L514F	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	514					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTTCTTAAAAGCAAACTCTGA	0.388													ENSG00000024526																																					0													104.0	96.0	99.0					1																	68947951		1568	3582	5150	SO:0001583	missense	0			-	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1540C>T	1.37:g.68947951G>A	ENSP00000412292:p.Leu514Phe		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.L514F	ENST00000456315.2	37	c.1540	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751877	0.49362	.	.	ENSG00000024526	ENST00000456315	T	0.11277	2.79	5.61	4.69	0.59074	Rho GTPase activation protein (1);	0.765712	0.12654	N	0.450236	T	0.08670	0.0215	L	0.27053	0.805	0.80722	D	1	D	0.56035	0.974	P	0.52267	0.694	T	0.12837	-1.0532	10	0.72032	D	0.01	-5.8843	14.9342	0.70941	0.0:0.1424:0.8576:0.0	.	514	Q5TB30	DEP1A_HUMAN	F	514	ENSP00000412292:L514F	ENSP00000412292:L514F	L	-	1	0	DEPDC1	68720539	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.094000	0.57721	1.356000	0.45884	0.650000	0.86243	CTT	-	DEPDC1	-	superfamily_Rho_GTPase_activation_prot		0.388	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	0	0		114	114		0.00		G	NM_017779		68947951	-1	52		98		tier1	no_errors	ENST00000456315	ensembl	human	known	74_37	missense	34.67		SNP	1.000	A	52	98
ERCC5	2073	genome.wustl.edu	37	13	103518130	103518130	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:103518130G>A	ENST00000355739.4	+	9	3491	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	ERCC5_ENST00000375954.1_5'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.G1115E	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	690					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGAACTAGGGAGGGAGAAGC	0.527			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				ENSG00000134899																											yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	0													53.0	48.0	50.0					13																	103518130		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	-	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2068G>A	13.37:g.103518130G>A	ENSP00000347978:p.Glu690Lys		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_D_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_D_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes	p.E690K	ENST00000355739.4	37	c.2068	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566136	0.27915	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.04917	3.53	5.49	3.32	0.38043	.	1.321610	0.04436	N	0.370145	T	0.03434	0.0099	N	0.04043	-0.29	0.09310	N	0.999992	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.002	T	0.42531	-0.9446	10	0.09843	T	0.71	-0.4153	6.8657	0.24093	0.4593:0.0:0.5407:0.0	.	690;690;1115	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	K	1115;690;522	ENSP00000347978:E690K	ENSP00000347978:E690K	E	+	1	0	ERCC5	102316131	0.001000	0.12720	0.128000	0.21923	0.061000	0.15899	0.269000	0.18589	0.555000	0.29079	0.563000	0.77884	GAG	-	ERCC5	-	tigrfam_XPG/Rad2_eukaryotes		0.527	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	0	0		51	51		0.00		G			103518130	+1	7		51		tier1	no_errors	ENST00000355739	ensembl	human	known	74_37	missense	12.07		SNP	0.031	A	7	51
TMEM132B	114795	genome.wustl.edu	37	12	126128723	126128723	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:126128723C>T	ENST00000299308.3	+	6	1532	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TMEM132B_ENST00000535886.1_Silent_p.F20F	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	508						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTCCCAGTTCGAGGTCACTG	0.527													ENSG00000139364																																					0													84.0	86.0	85.0					12																	126128723		2012	4177	6189	SO:0001819	synonymous_variant	0			-	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1524C>T	12.37:g.126128723C>T			A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	NULL	p.F508	ENST00000299308.3	37	c.1524	CCDS41859.1	12																																																																																			-	TMEM132B	-	NULL		0.527	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	0	0		109	109		0.00		C	NM_052907		126128723	+1	20		113		tier1	no_errors	ENST00000299308	ensembl	human	known	74_37	silent	15.04		SNP	0.065	T	20	113
PCDHB6	56130	genome.wustl.edu	37	5	140531767	140531767	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140531767G>A	ENST00000231136.1	+	1	1929	c.1929G>A	c.(1927-1929)aaG>aaA	p.K643K	PCDHB6_ENST00000543635.1_Silent_p.K507K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	643	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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTTGTCAAGGACAATGGCG	0.697													ENSG00000113211																																					0													25.0	28.0	27.0					5																	140531767		2120	4170	6290	SO:0001819	synonymous_variant	0			-	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1929G>A	5.37:g.140531767G>A			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K643	ENST00000231136.1	37	c.1929	CCDS4248.1	5																																																																																			-	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	0	0		42	42		0.00		G	NM_018939		140531767	+1	23		61		tier1	no_errors	ENST00000231136	ensembl	human	known	74_37	silent	27.06		SNP	0.281	A	23	61
PRAMENP	649179	genome.wustl.edu	37	22	22348915	22348915	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:22348915G>A	ENST00000337471.4	-	0	2008									PRAME N-terminal-like, pseudogene																		TCAGGAGGTCGGAGAGGAACT	0.483													ENSG00000197549																																					0																																												0			-			22q11.22	2013-09-27	2013-09-27	2013-09-27	ENSG00000197549	ENSG00000197549		"""-"""	34302	pseudogene	pseudogene			"""preferentially expressed antigen in melanoma-like"", ""PRAME family member 24, pseudogene"""	PRAMEL, PRAMEF24P			Standard	XR_425303		Approved	FLJ16327			OTTHUMG00000150836		22.37:g.22348915G>A				R	SNP	-	NULL	ENST00000337471.4	37	NULL		22																																																																																			-	PRAMENP	-	-		0.483	PRAMENP-001	KNOWN	basic|exp_conf	processed_transcript	PRAMENP	HGNC	pseudogene	OTTHUMT00000320276.2	0	0		11	11		0.00		G			22348915	-1	5		6		tier1	no_errors	ENST00000337471	ensembl	human	known	74_37	rna	45.45		SNP	0.000	A	5	6
SRRM1	10250	genome.wustl.edu	37	1	24996033	24996033	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:24996033C>T	ENST00000323848.9	+	14	2474	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	SRRM1_ENST00000479034.1_3'UTR|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000447431.2_Missense_Mutation_p.P732L|SRRM1_ENST00000374389.4_Missense_Mutation_p.P729L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	720	Arg-rich.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGTACTAGGCCCATTAGGAGA	0.463													ENSG00000133226																									Ovarian(68;897 1494 3282 17478)												0													32.0	32.0	32.0					1																	24996033		2203	4298	6501	SO:0001583	missense	0			-	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2159C>T	1.37:g.24996033C>T	ENSP00000326261:p.Pro720Leu		O60585|Q5VVN4	Missense_Mutation	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.P732L	ENST00000323848.9	37	c.2195	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327144	0.60743	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.29917	1.55;1.55;1.55	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000010	T	0.32255	0.0823	L	0.46157	1.445	0.80722	D	1	B;B	0.30146	0.27;0.176	B;B	0.25291	0.059;0.026	T	0.09952	-1.0651	10	0.87932	D	0	-1.8987	19.8414	0.96690	0.0:1.0:0.0:0.0	.	732;720	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	720;732;729	ENSP00000326261:P720L;ENSP00000391430:P732L;ENSP00000363510:P729L	ENSP00000326261:P720L	P	+	2	0	SRRM1	24868620	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.890000	0.56220	2.680000	0.91292	0.563000	0.77884	CCC	-	SRRM1	-	NULL		0.463	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	HGNC	protein_coding	OTTHUMT00000009292.2	0	0		20	20		0.00		C	NM_005839		24996033	+1	11		15		tier1	no_errors	ENST00000447431	ensembl	human	known	74_37	missense	42.31		SNP	1.000	T	11	15
CLSTN1	22883	genome.wustl.edu	37	1	9795078	9795078	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:9795078G>A	ENST00000377298.4	-	14	2830	c.2038C>T	c.(2038-2040)Cct>Tct	p.P680S	CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Missense_Mutation_p.P670S|CLSTN1_ENST00000377288.3_Missense_Mutation_p.P661S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	680					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGAAGCTCAGGGAAAAGGAAC	0.582													ENSG00000171603																																					0													105.0	111.0	109.0					1																	9795078		2203	4300	6503	SO:0001583	missense	0			-	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2038C>T	1.37:g.9795078G>A	ENSP00000366513:p.Pro680Ser		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P680S	ENST00000377298.4	37	c.2038	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330230	0.60743	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.62210	-0.6902	10	0.52906	T	0.07	-20.3772	14.419	0.67171	0.0706:0.0:0.9294:0.0	.	661;670;680	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	S	680;670;481;661;661	ENSP00000366513:P680S;ENSP00000354997:P670S;ENSP00000401934:P481S;ENSP00000366502:P661S	ENSP00000354997:P670S	P	-	1	0	CLSTN1	9717665	1.000000	0.71417	0.082000	0.20525	0.141000	0.21300	6.772000	0.75001	1.390000	0.46547	0.655000	0.94253	CCT	-	CLSTN1	-	NULL		0.582	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	0	0		47	47		0.00		G			9795078	-1	22		44		tier1	no_errors	ENST00000377298	ensembl	human	known	74_37	missense	33.33		SNP	1.000	A	22	44
LCK	3932	genome.wustl.edu	37	1	32742051	32742051	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:32742051G>A	ENST00000336890.5	+	8	883	c.745G>A	c.(745-747)Gag>Aag	p.E249K	LCK_ENST00000333070.4_Missense_Mutation_p.E249K|LCK_ENST00000373564.3_Intron	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GAAGCTGGTGGAGCGGCTGGG	0.677			T	TRB@	T-ALL								ENSG00000182866																												Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													52.0	65.0	61.0					1																	32742051		2203	4300	6503	SO:0001583	missense	0			-	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.745G>A	1.37:g.32742051G>A	ENSP00000337825:p.Glu249Lys		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E249K	ENST00000336890.5	37	c.745	CCDS359.1	1	.	.	.	.	.	.	.	.	.	.	.	9.447	1.089651	0.20390	.	.	ENSG00000182866	ENST00000336890;ENST00000333070;ENST00000436824	T;T	0.61859	2.8;0.07	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.079062	0.52532	D	0.000065	T	0.30759	0.0775	N	0.05259	-0.085	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.24476	-1.0159	10	0.02654	T	1	.	11.9081	0.52723	0.0814:0.0:0.9186:0.0	.	293;249;249	E7EN21;P06239-3;P06239	.;.;LCK_HUMAN	K	249;249;293	ENSP00000337825:E249K;ENSP00000328213:E249K	ENSP00000328213:E249K	E	+	1	0	LCK	32514638	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.097000	0.41748	2.735000	0.93741	0.555000	0.69702	GAG	-	LCK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	HGNC	protein_coding	OTTHUMT00000019616.4	0	0		111	111		0.00		G	NM_005356		32742051	+1	26		147		tier1	no_errors	ENST00000333070	ensembl	human	known	74_37	missense	15.03		SNP	1.000	A	26	147
ANO7	50636	genome.wustl.edu	37	2	242142872	242142872	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:242142872G>A	ENST00000274979.8	+	9	1113	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K	ANO7_ENST00000402430.3_Missense_Mutation_p.R336K	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	337					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						CACGTGCGCAGGTACTTCGGG	0.682													ENSG00000146205																																					0													35.0	28.0	31.0					2																	242142872		2187	4297	6484	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.1010G>A	2.37:g.242142872G>A	ENSP00000274979:p.Arg337Lys		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.R337K	ENST00000274979.8	37	c.1010	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	5.937	0.356854	0.11239	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.61859	0.07;0.07	3.11	3.11	0.35812	.	0.230059	0.34879	U	0.003605	T	0.38639	0.1048	N	0.25426	0.745	0.28005	N	0.935141	B	0.32365	0.367	B	0.37550	0.253	T	0.30563	-0.9974	10	0.06365	T	0.9	.	7.6551	0.28371	0.1269:0.0:0.8731:0.0	.	337	Q6IWH7	ANO7_HUMAN	K	337;336	ENSP00000274979:R337K;ENSP00000385418:R336K	ENSP00000274979:R337K	R	+	2	0	ANO7	241791545	0.830000	0.29337	0.997000	0.53966	0.310000	0.27922	1.735000	0.38176	1.445000	0.47624	0.313000	0.20887	AGG	-	ANO7	-	pfam_Anoctamin		0.682	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	0	0		126	126		0.00		G	NM_001001891		242142872	+1	45		142		tier1	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	24.06		SNP	1.000	A	45	142
AMBN	258	genome.wustl.edu	37	4	71472327	71472327	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71472327C>T	ENST00000322937.6	+	13	1327	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	AMBN_ENST00000449493.2_Silent_p.F393F	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	408					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CCGTGGATTTCCAGGAAGAAG	0.532													ENSG00000178522																																					0													67.0	69.0	69.0					4																	71472327		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1224C>T	4.37:g.71472327C>T			Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	pfam_Amelin,smart_Amelin	p.F408	ENST00000322937.6	37	c.1224	CCDS3543.1	4																																																																																			-	AMBN	-	pfam_Amelin,smart_Amelin		0.532	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1	0	0		40	40		0.00		C	NM_016519		71472327	+1	9		45		tier1	no_errors	ENST00000322937	ensembl	human	known	74_37	silent	16.67		SNP	0.003	T	9	45
PCF11	51585	genome.wustl.edu	37	11	82880096	82880096	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:82880096C>T	ENST00000298281.4	+	8	3171	c.2719C>T	c.(2719-2721)Ccc>Tcc	p.P907S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	907	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTTGATAATCCCCGAGGTCA	0.552													ENSG00000165494																																					0													52.0	53.0	53.0					11																	82880096		1950	4129	6079	SO:0001583	missense	0			-	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2719C>T	11.37:g.82880096C>T	ENSP00000298281:p.Pro907Ser		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	pfam_R_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.P907S	ENST00000298281.4	37	c.2719	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882942	0.33255	.	.	ENSG00000165494	ENST00000298281	T	0.21031	2.03	6.07	5.11	0.69529	.	0.106753	0.42682	D	0.000676	T	0.19248	0.0462	L	0.54323	1.7	0.38667	D	0.952227	B	0.34103	0.437	B	0.30401	0.115	T	0.03077	-1.1075	9	.	.	.	-6.0184	11.1422	0.48408	0.0:0.8016:0.1299:0.0686	.	907	O94913	PCF11_HUMAN	S	907	ENSP00000298281:P907S	.	P	+	1	0	PCF11	82557744	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.969000	0.40510	2.885000	0.99019	0.655000	0.94253	CCC	-	PCF11	-	NULL		0.552	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	0	0		63	63		0.00		C	NM_015885		82880096	+1	22		68		tier1	no_errors	ENST00000298281	ensembl	human	known	74_37	missense	24.44		SNP	1.000	T	22	68
WHAMMP3	339005	genome.wustl.edu	37	15	23191902	23191902	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:23191902G>A	ENST00000400153.2	-	0	1794					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		CTGAGCCAATGATTTTCTTCG	0.398													ENSG00000187667																																					0																																												0			-	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191902G>A			Q1A5X8|Q52M16|Q52M18	R	SNP	-	NULL	ENST00000400153.2	37	NULL		15																																																																																			-	WHAMMP3	-	-		0.398	WHAMMP3-001	KNOWN	basic	processed_transcript	WHAMMP3	HGNC	pseudogene	OTTHUMT00000415907.1	0	0		23	23		0.00		G	NR_003521		23191902	-1	7		12		tier1	no_errors	ENST00000400153	ensembl	human	known	74_37	rna	36.84		SNP	0.967	A	7	12
GPRC6A	222545	genome.wustl.edu	37	6	117150000	117150000	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:117150000T>A	ENST00000310357.3	-	1	198	c.177A>T	c.(175-177)caA>caT	p.Q59H	GPRC6A_ENST00000368549.3_Missense_Mutation_p.Q59H|GPRC6A_ENST00000530250.1_Missense_Mutation_p.Q59H	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	59					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTCCTGGATTTGTGGTCGTC	0.388													ENSG00000173612																																					0													82.0	80.0	81.0					6																	117150000		2203	4300	6503	SO:0001583	missense	0			-	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.177A>T	6.37:g.117150000T>A	ENSP00000309493:p.Gln59His		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.Q59H	ENST00000310357.3	37	c.177	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179596	0.38511	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.86297	-2.1;-2.1;-2.1	5.05	3.89	0.44902	.	0.385202	0.24359	N	0.039204	T	0.54515	0.1863	N	0.08118	0	0.22541	N	0.99901	B;P;B	0.36315	0.002;0.547;0.008	B;B;B	0.34590	0.003;0.186;0.005	T	0.50154	-0.8861	10	0.37606	T	0.19	.	6.9041	0.24299	0.0:0.19:0.0:0.81	.	59;59;59	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	H	59	ENSP00000309493:Q59H;ENSP00000357537:Q59H;ENSP00000433465:Q59H	ENSP00000309493:Q59H	Q	-	3	2	GPRC6A	117256693	0.993000	0.37304	1.000000	0.80357	0.989000	0.77384	-0.004000	0.12878	0.951000	0.37770	0.460000	0.39030	CAA	-	GPRC6A	-	superfamily_Peripla_BP_I		0.388	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	0	0		48	48		0.00		T			117150000	-1	14		50		tier1	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	21.88		SNP	1.000	A	14	50
C19orf44	84167	genome.wustl.edu	37	19	16611858	16611858	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:16611858C>T	ENST00000221671.3	+	2	411	c.255C>T	c.(253-255)gcC>gcT	p.A85A	C19orf44_ENST00000594035.1_Silent_p.A85A|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	85										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCACCACTGCCTCCAGGATCC	0.537													ENSG00000105072																																					0													91.0	104.0	100.0					19																	16611858		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.255C>T	19.37:g.16611858C>T			Q8N6Y7	Silent	SNP	NULL	p.A85	ENST00000221671.3	37	c.255	CCDS12345.1	19																																																																																			-	C19orf44	-	NULL		0.537	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	HGNC	protein_coding	OTTHUMT00000461218.1	0	0		88	88		0.00		C	NM_032207		16611858	+1	47		60		tier1	no_errors	ENST00000221671	ensembl	human	known	74_37	silent	43.93		SNP	0.000	T	47	60
NCAPD2	9918	genome.wustl.edu	37	12	6637747	6637747	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6637747G>A	ENST00000315579.5	+	26	4098				NCAPD2_ENST00000545962.1_Intron	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGGAGTGGCAGAGCATGGGAT	0.527													ENSG00000010292																																					0																																										SO:0001627	intron_variant	0			-	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3300-98G>A	12.37:g.6637747G>A			D3DUR4|Q8N6U3	R	SNP	-	NULL	ENST00000315579.5	37	NULL	CCDS8548.1	12																																																																																			-	NCAPD2	-	-		0.527	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	0	0		25	25		0.00		G	NM_014865		6637747	+1	11		30		tier1	no_errors	ENST00000535804	ensembl	human	putative	74_37	rna	26.83		SNP	0.000	A	11	30
ZFP14	57677	genome.wustl.edu	37	19	36831859	36831859	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:36831859C>A	ENST00000270001.7	-	5	984	c.869G>T	c.(868-870)gGa>gTa	p.G290V		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	290					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)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AAAGGTCTTTCCACAGTCCTT	0.433													ENSG00000142065																																					0													103.0	110.0	107.0					19																	36831859		2203	4300	6503	SO:0001583	missense	0			-	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.869G>T	19.37:g.36831859C>A	ENSP00000270001:p.Gly290Val		A7MD23	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.G290V	ENST00000270001.7	37	c.869	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145782	0.57044	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.07567	3.18	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000301	T	0.37652	0.1011	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.963	T	0.53563	-0.8421	10	0.87932	D	0	.	15.3254	0.74157	0.0:1.0:0.0:0.0	.	290;290	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	V	290	ENSP00000270001:G290V	ENSP00000270001:G290V	G	-	2	0	ZFP14	41523699	0.661000	0.27430	1.000000	0.80357	0.924000	0.55760	1.273000	0.33121	2.208000	0.71279	0.549000	0.68633	GGA	-	ZFP14	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	0	0		60	60		0.00		C	NM_020917		36831859	-1	41		41		tier1	no_errors	ENST00000270001	ensembl	human	known	74_37	missense	50.00		SNP	1.000	A	41	41
FGFR3	2261	genome.wustl.edu	37	4	1807115	1807115	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:1807115C>T	ENST00000260795.2	+	10	1548	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	FGFR3_ENST00000340107.4_Silent_p.C484C|FGFR3_ENST00000352904.1_Silent_p.C370C|FGFR3_ENST00000440486.2_Silent_p.C482C|FGFR3_ENST00000412135.2_Silent_p.C370C|FGFR3_ENST00000481110.2_Silent_p.C483C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGGAGGGCTGCTTCGGCCAGG	0.657		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				ENSG00000068078																												Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	0													27.0	30.0	29.0					4																	1807115		2201	4300	6501	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	-	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1446C>T	4.37:g.1807115C>T			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C484	ENST00000260795.2	37	c.1452	CCDS3353.1	4																																																																																			-	FGFR3	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.657	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	HGNC	protein_coding	OTTHUMT00000241632.2	0	0		30	30		0.00		C	NM_000142		1807115	+1	9		46		tier1	no_errors	ENST00000340107	ensembl	human	known	74_37	silent	16.36		SNP	1.000	T	9	46
MMRN1	22915	genome.wustl.edu	37	4	90857534	90857534	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:90857534C>T	ENST00000394980.1	+	7	3022	c.2703C>T	c.(2701-2703)tcC>tcT	p.S901S	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.S901S|MMRN1_ENST00000508372.1_Silent_p.S643S			Q13201	MMRN1_HUMAN	multimerin 1	901					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTAAATTCCAGATTTAAGG	0.348													ENSG00000138722																																					0													61.0	64.0	63.0					4																	90857534		2200	4300	6500	SO:0001819	synonymous_variant	0			-	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2703C>T	4.37:g.90857534C>T			Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.S901	ENST00000394980.1	37	c.2703	CCDS3635.1	4																																																																																			-	MMRN1	-	NULL		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	0	0		111	111		0.00		C	NM_007351		90857534	+1	68		76		tier1	no_errors	ENST00000264790	ensembl	human	known	74_37	silent	47.22		SNP	0.801	T	68	76
DIAPH3	81624	genome.wustl.edu	37	13	60435391	60435391	+	Intron	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:60435391T>A	ENST00000400324.4	-	22	2958				DIAPH3_ENST00000400330.1_Intron|DIAPH3_ENST00000377908.2_Intron|DIAPH3_ENST00000465066.1_Intron|DIAPH3_ENST00000267215.4_Intron|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000400319.1_Intron	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3						actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAACTCATAATATCCTACAAC	0.279													ENSG00000139734																																					0																																										SO:0001627	intron_variant	0			-	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2737+149A>T	13.37:g.60435391T>A			A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	R	SNP	-	NULL	ENST00000400324.4	37	NULL	CCDS41898.1	13																																																																																			-	DIAPH3	-	-		0.279	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	0	0		50	50		0.00		T	NM_001042517		60435391	-1	13		36		tier1	no_errors	ENST00000498416	ensembl	human	known	74_37	rna	26.53		SNP	0.592	A	13	36
TMEM210	100505993	genome.wustl.edu	37	9	140066474	140066474	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:140066474G>A	ENST00000413619.2	-	1	387	c.6C>T	c.(4-6)gcC>gcT	p.A2A	LRRC26_ENST00000371542.3_5'Flank|ANAPC2_ENST00000487917.1_5'Flank|RP11-350O14.18_ENST00000568665.1_RNA|TMEM210_ENST00000430332.1_5'Flank|TMEM210_ENST00000535352.2_5'UTR|MIR3621_ENST00000580529.1_RNA	NM_001282477.1	NP_001269406.1	A6NLX4	TM210_HUMAN	transmembrane protein 210	2						integral component of membrane (GO:0016021)											AGGGACCGGGGGCCATGTCCA	0.647													ENSG00000185863																																					0																																										SO:0001819	synonymous_variant	0			-		CCDS65197.1	9q34.3	2014-01-28			ENSG00000185863	ENSG00000185863			34059	protein-coding gene	gene with protein product							Standard	NM_001282477		Approved			A6NLX4	OTTHUMG00000020981	ENST00000413619.2:c.6C>T	9.37:g.140066474G>A				Silent	SNP	NULL	p.A2	ENST00000413619.2	37	c.6		9																																																																																			-	TMEM210	-	NULL		0.647	TMEM210-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TMEM210	HGNC	protein_coding	OTTHUMT00000055308.2	0	0		78	78		0.00		G	XM_001715022		140066474	-1	29		102		tier1	no_errors	ENST00000413619	ensembl	human	known	74_37	silent	22.14		SNP	0.952	A	29	102
PER3	8863	genome.wustl.edu	37	1	7889943	7889943	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:7889943G>A	ENST00000361923.2	+	18	3084	c.2909G>A	c.(2908-2910)gGt>gAt	p.G970D	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.G979D	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	970	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACTACCGGTGCACTGTCC	0.507													ENSG00000049246																																					0													137.0	123.0	128.0					1																	7889943		2203	4300	6503	SO:0001583	missense	0			-	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2909G>A	1.37:g.7889943G>A	ENSP00000355031:p.Gly970Asp		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.G970D	ENST00000361923.2	37	c.2909	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	5.178	0.218313	0.09810	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10960	2.88;2.82	2.31	0.369	0.16151	.	613.810000	0.01140	U	0.006182	T	0.11495	0.0280	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.30281	0.18;0.18;0.275;0.18	B;B;B;B	0.36289	0.11;0.11;0.221;0.11	T	0.28073	-1.0055	10	0.12430	T	0.62	.	3.6039	0.08035	0.1589:0.2627:0.5784:0.0	.	970;979;979;970	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	D	979;970;181	ENSP00000366755:G979D;ENSP00000355031:G970D	ENSP00000355031:G970D	G	+	2	0	PER3	7812530	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.419000	0.21247	0.103000	0.17682	-0.463000	0.05309	GGT	-	PER3	-	NULL		0.507	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	0	0		82	82		0.00		G	NM_016831		7889943	+1	34		50		tier1	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	40.48		SNP	0.000	A	34	50
RAB4B	53916	genome.wustl.edu	37	19	41292580	41292580	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:41292580C>T	ENST00000594800.1	+	6	601	c.441C>T	c.(439-441)ttC>ttT	p.F147F	MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Silent_p.F147F|RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Silent_p.F147F			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	147					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCTGATGTTCCTGGAGACCA	0.602													ENSG00000167578																																					0													69.0	59.0	62.0					19																	41292580		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.441C>T	19.37:g.41292580C>T			P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P96S	ENST00000594800.1	37	c.286	CCDS33030.1	19	.	.	.	.	.	.	.	.	.	.	-	8.680	0.904837	0.17760	.	.	ENSG00000167578	ENST00000378307	T	0.70869	-0.52	4.29	2.09	0.27110	.	.	.	.	.	T	0.70894	0.3276	.	.	.	0.25261	N	0.989597	.	.	.	.	.	.	T	0.62501	-0.6841	6	0.87932	D	0	.	9.6262	0.39752	0.0:0.7394:0.0:0.2606	.	.	.	.	S	96	ENSP00000367557:P96S	ENSP00000367557:P96S	P	+	1	0	RAB4B	45984420	0.991000	0.36638	0.998000	0.56505	0.491000	0.33493	0.661000	0.25023	0.128000	0.18479	-1.137000	0.01932	CCT	-	RAB4B	-	smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.602	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4B	HGNC	protein_coding	OTTHUMT00000463168.1	0	0		49	49		0.00		C	NM_016154		41292580	+1	12		48		tier1	no_errors	ENST00000378307	ensembl	human	known	74_37	missense	20.00		SNP	0.999	T	12	48
FTL	2512	genome.wustl.edu	37	19	49469165	49469165	+	Missense_Mutation	SNP	G	G	A	rs551467958		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49469165G>A	ENST00000331825.6	+	2	448	c.241G>A	c.(241-243)Gac>Aac	p.D81N	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	81	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-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;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TCTCTTCCAGGACATCAAGGT	0.602													ENSG00000087086																																					0													40.0	38.0	39.0					19																	49469165		2203	4300	6503	SO:0001583	missense	0			-	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.241G>A	19.37:g.49469165G>A	ENSP00000366525:p.Asp81Asn		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.D81N	ENST00000331825.6	37	c.241	CCDS33070.1	19	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801279	0.50315	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.64085	-0.08	4.12	3.07	0.35406	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.050892	0.85682	D	0.000000	T	0.66237	0.2769	M	0.81942	2.565	0.30687	N	0.751707	B;B	0.24920	0.051;0.114	B;B	0.34346	0.18;0.13	T	0.71020	-0.4713	10	0.66056	D	0.02	.	11.5653	0.50802	0.0:0.0:0.8202:0.1798	.	81;81	P02792;F5H1X1	FRIL_HUMAN;.	N	81	ENSP00000366525:D81N	ENSP00000366525:D81N	D	+	1	0	FTL	54160977	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	6.750000	0.74888	1.314000	0.45095	0.655000	0.94253	GAC	-	FTL	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron		0.602	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	HGNC	protein_coding	OTTHUMT00000466233.1	0	0		41	41		0.00		G	NM_000146		49469165	+1	7		36		tier1	no_errors	ENST00000331825	ensembl	human	known	74_37	missense	16.28		SNP	1.000	A	7	36
SNRNP200	23020	genome.wustl.edu	37	2	96958812	96958812	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:96958812T>A	ENST00000323853.5	-	16	2135	c.2058A>T	c.(2056-2058)gaA>gaT	p.E686D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	686	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATATGTCTGTTCCAGAGGCA	0.403													ENSG00000144028																																					0													75.0	69.0	71.0					2																	96958812		2203	4300	6503	SO:0001583	missense	0			-	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2058A>T	2.37:g.96958812T>A	ENSP00000317123:p.Glu686Asp		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E686D	ENST00000323853.5	37	c.2058	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244724	0.59103	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	D	0.91945	-2.94	6.06	-2.09	0.07232	Helicase, C-terminal (1);DEAD-like helicase (1);	0.046847	0.85682	D	0.000000	D	0.86703	0.5996	L	0.58510	1.815	0.80722	D	1	B	0.33612	0.419	B	0.24701	0.055	T	0.77736	-0.2476	10	0.40728	T	0.16	-14.6574	12.5085	0.55995	0.0:0.5241:0.0:0.4759	.	686	O75643	U520_HUMAN	D	686;361	ENSP00000317123:E686D	ENSP00000317123:E686D	E	-	3	2	SNRNP200	96322539	0.999000	0.42202	0.992000	0.48379	0.981000	0.71138	0.648000	0.24828	-0.331000	0.08501	0.533000	0.62120	GAA	-	SNRNP200	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_C		0.403	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	0	0		76	76		0.00		T	NM_014014		96958812	-1	34		58		tier1	no_errors	ENST00000323853	ensembl	human	known	74_37	missense	36.96		SNP	0.996	A	34	58
GRAMD1B	57476	genome.wustl.edu	37	11	123448193	123448193	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:123448193C>T	ENST00000529750.1	+	2	469	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.H48Y|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.H48Y	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	48						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GGGCTCAGATCACTCCTCGGA	0.687											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000023171																																					0													22.0	28.0	26.0					11																	123448193		2109	4224	6333	SO:0001583	missense	0			-	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.142C>T	11.37:g.123448193C>T	ENSP00000436500:p.His48Tyr	1526	Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.H48Y	ENST00000529750.1	37	c.142	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909441	0.72868	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.31247	1.91;1.9;1.9;1.89;1.5	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	N	0.14661	0.345	0.53005	D	0.999965	P;P;P;P	0.46706	0.814;0.883;0.666;0.814	B;P;B;B	0.49387	0.418;0.609;0.185;0.418	T	0.19418	-1.0306	10	0.59425	D	0.04	.	18.1148	0.89549	0.0:1.0:0.0:0.0	.	8;48;48;48	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	Y	48;48;48;48;8;44	ENSP00000402457:H48Y;ENSP00000325628:H48Y;ENSP00000436500:H48Y;ENSP00000432987:H8Y;ENSP00000434214:H44Y	ENSP00000325628:H48Y	H	+	1	0	GRAMD1B	122953403	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.597000	0.67577	2.275000	0.75901	0.462000	0.41574	CAC	-	GRAMD1B	-	NULL		0.687	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	0	0		82	82		0.00		C	XM_370660		123448193	+1	38		74		tier1	no_errors	ENST00000322282	ensembl	human	known	74_37	missense	33.63		SNP	1.000	T	38	74
C1orf105	92346	genome.wustl.edu	37	1	172425563	172425563	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:172425563G>A	ENST00000367727.4	+	4	405	c.207G>A	c.(205-207)agG>agA	p.R69R	C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Silent_p.R59R	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	69										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGGCCAGGAGGAACCAGTGTG	0.532													ENSG00000180999																																					0													126.0	122.0	124.0					1																	172425563		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.207G>A	1.37:g.172425563G>A			Q8IY02	Silent	SNP	NULL	p.R69	ENST00000367727.4	37	c.207	CCDS1301.1	1																																																																																			-	C1orf105	-	NULL		0.532	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	HGNC	protein_coding	OTTHUMT00000084062.2	0	0		54	54		0.00		G	NM_139240		172425563	+1	29		37		tier1	no_errors	ENST00000367727	ensembl	human	known	74_37	silent	43.94		SNP	0.028	A	29	37
ACAT2	39	genome.wustl.edu	37	6	160182501	160182501	+	5'UTR	DEL	G	G	-	rs557354649		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:160182501delG	ENST00000367048.4	+	0	1142				SOD2_ENST00000546087.1_5'UTR|SOD2_ENST00000535372.1_5'UTR|ACAT2_ENST00000541436.1_5'Flank	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2						lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGCTCGCACCGAGACGCTCCT	0.597													ENSG00000112096																																					0																																										SO:0001623	5_prime_UTR_variant	0				AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.-619G>-	6.37:g.160182501delG			B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	R	DEL	-	NULL	ENST00000367048.4	37	NULL	CCDS5268.1	6																																																																																				SOD2	-	-		0.597	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOD2	HGNC	protein_coding	OTTHUMT00000042912.1	0	0		48	48		0.00		G	NM_005891		160182501	-1	33		64		tier1	no_errors	ENST00000535372	ensembl	human	known	74_37	rna	34.02		DEL	0.006	-	33	64
DCT	1638	genome.wustl.edu	37	13	95114318	95114318	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:95114318G>A	ENST00000377028.5	-	5	1402	c.989C>T	c.(988-990)tCt>tTt	p.S330F	DCT_ENST00000446125.1_Missense_Mutation_p.S330F|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	330					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTTCTGGAGAGACAGGCAATC	0.453													ENSG00000080166																																					0													144.0	126.0	133.0					13																	95114318		2203	4300	6503	SO:0001583	missense	0			-	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.989C>T	13.37:g.95114318G>A	ENSP00000366227:p.Ser330Phe		Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.S330F	ENST00000377028.5	37	c.989	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	g	19.91	3.914646	0.72983	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98419	-4.92;-4.92	5.52	5.52	0.82312	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.168176	0.56097	D	0.000040	D	0.98865	0.9616	M	0.84082	2.675	0.41071	D	0.98545	P;D	0.54397	0.568;0.966	P;P	0.61003	0.629;0.882	D	0.99888	1.1128	10	0.87932	D	0	-19.374	19.4555	0.94886	0.0:0.0:1.0:0.0	.	330;330	Q09GT4;P40126	.;TYRP2_HUMAN	F	330	ENSP00000366227:S330F;ENSP00000392762:S330F	ENSP00000366227:S330F	S	-	2	0	DCT	93912319	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.602000	0.61098	2.625000	0.88918	0.556000	0.70494	TCT	-	DCT	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre		0.453	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	0	0		95	95		0.00		G			95114318	-1	15		55		tier1	no_errors	ENST00000446125	ensembl	human	known	74_37	missense	21.43		SNP	1.000	A	15	55
CUBN	8029	genome.wustl.edu	37	10	16960740	16960740	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:16960740G>A	ENST00000377833.4	-	45	6946	c.6881C>T	c.(6880-6882)tCc>tTc	p.S2294F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2294	CUB 16. {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)	ACAAAATTTGGAAAGTATTGG	0.448													ENSG00000107611																																					0													83.0	70.0	74.0					10																	16960740		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.6881C>T	10.37:g.16960740G>A	ENSP00000367064:p.Ser2294Phe		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.S2294F	ENST00000377833.4	37	c.6881	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526751	0.44969	.	.	ENSG00000107611	ENST00000377833	T	0.18657	2.2	5.6	4.7	0.59300	CUB (5);	0.158894	0.29980	N	0.010719	T	0.32526	0.0832	L	0.45581	1.43	0.80722	D	1	P	0.48694	0.914	P	0.53861	0.736	T	0.03514	-1.1029	10	0.56958	D	0.05	.	14.1376	0.65297	0.0715:0.0:0.9285:0.0	.	2294	O60494	CUBN_HUMAN	F	2294	ENSP00000367064:S2294F	ENSP00000367064:S2294F	S	-	2	0	CUBN	17000746	1.000000	0.71417	0.368000	0.25939	0.083000	0.17756	4.957000	0.63652	1.361000	0.45981	0.650000	0.86243	TCC	-	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	0	0		67	67		0.00		G	NM_001081		16960740	-1	37		68		tier1	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	35.24		SNP	0.994	A	37	68
LRRC74A	145497	genome.wustl.edu	37	14	77292847	77292847	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:77292847C>T	ENST00000393774.3	+	1	133	c.9C>T	c.(7-9)atC>atT	p.I3I	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_5'Flank|C14orf166B_ENST00000450042.2_5'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TCATGCACATCCAATTCCCAT	0.547													ENSG00000100565																									Ovarian(165;1056 1958 32571 36789 48728)												0													68.0	71.0	70.0					14																	77292847		692	1591	2283	SO:0001819	synonymous_variant	0			-																												ENST00000393774.3:c.9C>T	14.37:g.77292847C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I3	ENST00000393774.3	37	c.9	CCDS9853.2	14																																																																																			-	C14orf166B	-	NULL		0.547	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	HGNC	protein_coding	OTTHUMT00000316592.1	0	0		42	42		0.00		C			77292847	+1	9		24		tier1	no_errors	ENST00000393774	ensembl	human	known	74_37	silent	27.27		SNP	0.023	T	9	24
NES	10763	genome.wustl.edu	37	1	156639422	156639422	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:156639422G>A	ENST00000368223.3	-	4	4690	c.4558C>T	c.(4558-4560)Ccc>Tcc	p.P1520S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1520	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCCCACTGGGGATCTCTAGA	0.577													ENSG00000132688																																					0													66.0	60.0	62.0					1																	156639422		2203	4300	6503	SO:0001583	missense	0			-	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4558C>T	1.37:g.156639422G>A	ENSP00000357206:p.Pro1520Ser		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.P1520S	ENST00000368223.3	37	c.4558	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	8.634	0.894485	0.17613	.	.	ENSG00000132688	ENST00000368223	D	0.89552	-2.53	4.34	2.28	0.28536	.	.	.	.	.	T	0.70029	0.3177	L	0.48642	1.525	0.09310	N	1	B	0.21520	0.057	B	0.15052	0.012	T	0.61402	-0.7070	9	0.51188	T	0.08	.	2.8551	0.05570	0.1034:0.2874:0.4475:0.1616	.	1520	P48681	NEST_HUMAN	S	1520	ENSP00000357206:P1520S	ENSP00000357206:P1520S	P	-	1	0	NES	154906046	0.014000	0.17966	0.025000	0.17156	0.012000	0.07955	0.758000	0.26447	0.805000	0.34159	0.313000	0.20887	CCC	-	NES	-	NULL		0.577	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	0	0		41	41		0.00		G	NM_006617		156639422	-1	8		50		tier1	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	13.56		SNP	0.002	A	8	50
PCNP	57092	genome.wustl.edu	37	3	101312033	101312033	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:101312033G>A	ENST00000265260.3	+	0	1094				PCNP_ENST00000469941.1_3'UTR|PCNP_ENST00000296024.5_3'UTR|PCNP_ENST00000486406.1_3'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein						cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						TATTGTATTGGGAAGAAAATG	0.343													ENSG00000081154																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.*436G>A	3.37:g.101312033G>A			B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	R	SNP	-	NULL	ENST00000265260.3	37	NULL	CCDS2942.1	3																																																																																			-	PCNP	-	-		0.343	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNP	HGNC	protein_coding	OTTHUMT00000353338.2	0	0		34	34		0.00		G	NM_020357		101312033	+1	18		34		tier1	no_errors	ENST00000486406	ensembl	human	known	74_37	rna	34.62		SNP	0.916	A	18	34
PCDH15	65217	genome.wustl.edu	37	10	55719580	55719580	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:55719580C>T	ENST00000320301.6	-	23	3428	c.3034G>A	c.(3034-3036)Ggg>Agg	p.G1012R	PCDH15_ENST00000414778.1_Missense_Mutation_p.G1017R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1012R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1012R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G990R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G975R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G941R|PCDH15_ENST00000409834.1_Missense_Mutation_p.G623R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1019R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1012R|PCDH15_ENST00000373965.2_Missense_Mutation_p.G1019R|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1012	Cadherin 9. {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)				ACAGGCTCCCCATCATCAAAA	0.383										HNSCC(58;0.16)			ENSG00000150275																																					0													84.0	76.0	79.0					10																	55719580		2203	4300	6503	SO:0001583	missense	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.3034G>A	10.37:g.55719580C>T	ENSP00000322604:p.Gly1012Arg		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G1012R	ENST00000320301.6	37	c.3034	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319031	0.81469	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69913	0.3164	H	0.96048	3.76	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.997	T	0.80476	-0.1366	9	0.87932	D	0	.	18.1451	0.89652	0.0:1.0:0.0:0.0	.	990;1012;1012;1017;941;975;1012;1012;1019;1019;1012;1017;1012	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	1019;1017;1012;1012;623;1019;975;1012;990;1012;1012;1017;941	ENSP00000363076:G1019R;ENSP00000410304:G1017R;ENSP00000378826:G1012R;ENSP00000386693:G623R;ENSP00000378832:G1019R;ENSP00000378820:G975R;ENSP00000354950:G1012R;ENSP00000378821:G990R;ENSP00000322604:G1012R;ENSP00000378818:G1012R;ENSP00000412628:G941R	ENSP00000322604:G1012R	G	-	1	0	PCDH15	55389586	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	6.327000	0.72910	2.582000	0.87167	0.585000	0.79938	GGG	-	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	0	0		74	74		0.00		C	NM_033056		55719580	-1	21		44		tier1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	32.31		SNP	1.000	T	21	44
CCNF	899	genome.wustl.edu	37	16	2506847	2506847	+	Silent	SNP	C	C	T	rs566297845		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2506847C>T	ENST00000397066.4	+	17	2275	c.2187C>T	c.(2185-2187)tcC>tcT	p.S729S	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	729	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CAGTGCTGTCCCTGGACAGTG	0.632													ENSG00000162063	C|||	1	0.000199681	0.0	0.0	5008	,	,		19092	0.001		0.0	False		,,,				2504	0.0																0													96.0	81.0	86.0					16																	2506847		2198	4300	6498	SO:0001819	synonymous_variant	0			-	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2187C>T	16.37:g.2506847C>T			B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.S729	ENST00000397066.4	37	c.2187	CCDS10467.1	16																																																																																			-	CCNF	-	NULL		0.632	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	0	0		36	36		0.00		C	NM_001761		2506847	+1	22		41		tier1	no_errors	ENST00000397066	ensembl	human	known	74_37	silent	34.92		SNP	0.027	T	22	41
TNXB	7148	genome.wustl.edu	37	6	32017184	32017184	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32017184G>A	ENST00000375244.3	-	28	9821	c.9620C>T	c.(9619-9621)cCc>cTc	p.P3207L	TNXB_ENST00000375247.2_Missense_Mutation_p.P3205L			P22105	TENX_HUMAN	tenascin XB	3252					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCACCTGGGGCTGCCCGTC	0.672													ENSG00000168477																																					0													62.0	67.0	65.0					6																	32017184		1286	2547	3833	SO:0001583	missense	0			-	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9620C>T	6.37:g.32017184G>A	ENSP00000364393:p.Pro3207Leu		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.P3205L	ENST00000375244.3	37	c.9614		6	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549039	0.45383	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56444	0.46;0.46	4.43	4.43	0.53597	.	0.000000	0.47852	D	0.000208	T	0.46014	0.1371	M	0.88842	2.985	0.37503	D	0.91683	B	0.02656	0.0	B	0.01281	0.0	T	0.55636	-0.8110	10	0.39692	T	0.17	.	13.9686	0.64225	0.0:0.0:1.0:0.0	.	3205	P22105-3	.	L	3207;3205	ENSP00000364393:P3207L;ENSP00000364396:P3205L	ENSP00000364393:P3207L	P	-	2	0	TNXB	32125162	1.000000	0.71417	0.991000	0.47740	0.006000	0.05464	3.070000	0.50033	2.011000	0.59026	0.313000	0.20887	CCC	-	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	0	0		73	73		0.00		G	NM_019105		32017184	-1	41		35		tier1	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	53.95		SNP	1.000	A	41	35
MTRNR2L13	100463500	genome.wustl.edu	37	4	117221025	117221025	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:117221025G>A	ENST00000604093.1	+	1	1010	c.69G>A	c.(67-69)cgG>cgA	p.R23R	RP11-659O3.1_ENST00000509983.1_lincRNA					MT-RNR2-like 13																		TGAAGAGGCGGATATAAACAA	0.398													ENSG00000270394																																					0																																										SO:0001819	synonymous_variant	0			-			4q26	2014-02-18	2014-02-18			ENSG00000270394			37170	protein-coding gene	gene with protein product	"""humanin-like 13"""		"""MT-RNR2-like 13 (pseudogene)"""			19477263	Standard	NG_023160		Approved			S4R3P1	OTTHUMG00000184994	ENST00000604093.1:c.69G>A	4.37:g.117221025G>A				Silent	SNP	NULL	p.R23	ENST00000604093.1	37	c.69		4																																																																																			-	MTRNR2L13	-	NULL		0.398	MTRNR2L13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	MTRNR2L13	HGNC	protein_coding	OTTHUMT00000469414.2	0	0		34	34		0.00		G	NG_023160		117221025	+1	13		37		tier1	no_errors	ENST00000604093	ensembl	human	known	74_37	silent	26.00		SNP	1.000	A	13	37
GRM5	2915	genome.wustl.edu	37	11	88330491	88330491	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:88330491C>T	ENST00000305447.4	-	5	1573	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	GRM5_ENST00000305432.5_Missense_Mutation_p.G475E|GRM5_ENST00000393297.1_Missense_Mutation_p.G475E|GRM5_ENST00000455756.2_Missense_Mutation_p.G475E|GRM5_ENST00000418177.2_Missense_Mutation_p.G475E	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	475					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GTAATCTTTTCCCATTTCCTT	0.303													ENSG00000168959																																					0													114.0	101.0	105.0					11																	88330491		2201	4299	6500	SO:0001583	missense	0			-	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1424G>A	11.37:g.88330491C>T	ENSP00000306138:p.Gly475Glu		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.G475E	ENST00000305447.4	37	c.1424	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944937	0.73672	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17	5.4	5.4	0.78164	.	0.049648	0.85682	D	0.000000	D	0.87748	0.6255	L	0.29908	0.895	0.58432	D	0.999997	D;B	0.58268	0.982;0.137	P;B	0.56042	0.79;0.067	D	0.86335	0.1701	9	.	.	.	.	19.1637	0.93544	0.0:1.0:0.0:0.0	.	475;475	P41594-2;P41594	.;GRM5_HUMAN	E	475	ENSP00000402912:G475E;ENSP00000405690:G475E;ENSP00000305905:G475E;ENSP00000306138:G475E;ENSP00000376975:G475E	.	G	-	2	0	GRM5	87970139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.687000	0.61708	2.539000	0.85634	0.650000	0.86243	GGA	-	GRM5	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3_mtglu_rcpt_1		0.303	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	0	0		44	44		0.00		C	NM_000842		88330491	-1	5		43		tier1	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	10.42		SNP	1.000	T	5	43
PSG3	5671	genome.wustl.edu	37	19	43226221	43226221	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:43226221G>A	ENST00000327495.5	-	0	1533				PSG3_ENST00000595140.1_Missense_Mutation_p.S422L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3						defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				taaatactttgaggaagaatg	0.328													ENSG00000221826																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.*62C>T	19.37:g.43226221G>A			Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S422L	ENST00000327495.5	37	c.1265	CCDS12611.1	19																																																																																			-	PSG3	-	NULL		0.328	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	HGNC	protein_coding	OTTHUMT00000321423.2	0	0		50	50		0.00		G	NM_021016		43226221	-1	29		30		tier1	no_errors	ENST00000595140	ensembl	human	putative	74_37	missense	48.33		SNP	0.046	A	29	30
USH2A	7399	genome.wustl.edu	37	1	215990402	215990402	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:215990402C>T	ENST00000307340.3	-	48	9893	c.9507G>A	c.(9505-9507)aaG>aaA	p.K3169K	USH2A_ENST00000366943.2_Silent_p.K3169K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3169	Fibronectin type-III 18. {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)		ACCTCACTGCCTTGCAGAGCT	0.393										HNSCC(13;0.011)			ENSG00000042781																																					0													168.0	153.0	158.0					1																	215990402		2203	4299	6502	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.9507G>A	1.37:g.215990402C>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.K3169	ENST00000307340.3	37	c.9507	CCDS31025.1	1																																																																																			-	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	0	0		53	53		0.00		C	NM_007123		215990402	-1	21		45		tier1	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	31.82		SNP	0.000	T	21	45
ADAM2	2515	genome.wustl.edu	37	8	39602383	39602383	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:39602383C>T	ENST00000265708.4	-	20	2307	c.2204G>A	c.(2203-2205)gGg>gAg	p.G735E	ADAM2_ENST00000347580.4_Missense_Mutation_p.G716E|ADAM2_ENST00000521880.1_Missense_Mutation_p.G672E|ADAM2_ENST00000379853.2_Missense_Mutation_p.G579E	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	735					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCAGACTACCCTTTAGGTTC	0.323													ENSG00000104755																																					0													83.0	90.0	88.0					8																	39602383		2203	4300	6503	SO:0001583	missense	0			-	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2204G>A	8.37:g.39602383C>T	ENSP00000265708:p.Gly735Glu		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G735E	ENST00000265708.4	37	c.2204	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	C	8.544	0.873893	0.17395	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02258	5.02;4.37;5.26;5.18	3.28	2.13	0.27403	.	.	.	.	.	T	0.01489	0.0048	N	0.11106	0.095	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.46638	-0.9177	9	0.87932	D	0	.	4.8061	0.13321	0.0:0.1511:0.0:0.8489	.	672;579;716;735	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	E	716;579;735;672	ENSP00000343854:G716E;ENSP00000369182:G579E;ENSP00000265708:G735E;ENSP00000429352:G672E	ENSP00000265708:G735E	G	-	2	0	ADAM2	39721540	0.017000	0.18338	0.005000	0.12908	0.002000	0.02628	0.199000	0.17237	0.640000	0.30582	-0.482000	0.04802	GGG	-	ADAM2	-	NULL		0.323	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	0	0		22	22		0.00		C	NM_001464		39602383	-1	13		18		tier1	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	41.94		SNP	0.007	T	13	18
GCAT	23464	genome.wustl.edu	37	22	38203986	38203986	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:38203986G>A	ENST00000248924.6	+	1	68	c.12G>A	c.(10-12)ggG>ggA	p.G4G	GCAT_ENST00000323205.6_Silent_p.G4G|GCAT_ENST00000415371.1_3'UTR	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	4					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TGTGGCCTGGGAACGCCTGGC	0.756													ENSG00000100116																																					0													6.0	6.0	6.0					22																	38203986		2014	3904	5918	SO:0001819	synonymous_variant	0			-	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.12G>A	22.37:g.38203986G>A			E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase	p.G4	ENST00000248924.6	37	c.12	CCDS13957.1	22																																																																																			-	GCAT	-	NULL		0.756	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	0	0		17	17		0.00		G	NM_014291.2		38203986	+1	21		34		tier1	no_errors	ENST00000248924	ensembl	human	known	74_37	silent	38.18		SNP	0.000	A	21	34
SEC63	11231	genome.wustl.edu	37	6	108222574	108222574	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:108222574C>T	ENST00000369002.4	-	13	1536	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	453	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCCCACTTACCCTGTGATTTT	0.383													ENSG00000025796																																					0													96.0	91.0	92.0					6																	108222574		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1357+1G>A	6.37:g.108222574C>T			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.V453M	ENST00000369002.4	37	c.1357	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917554	0.92249	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.62105	0.05	5.81	5.81	0.92471	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.78534	0.4298	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77705	-0.2488	9	.	.	.	-16.3553	20.0782	0.97758	0.0:1.0:0.0:0.0	.	453;453	Q9UGP8;B3KQF0	SEC63_HUMAN;.	M	453;104;313	ENSP00000357998:V453M	.	V	-	1	0	SEC63	108329267	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.409000	0.80053	2.746000	0.94184	0.655000	0.94253	GTG	-	SEC63	-	pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom		0.383	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	0	0		64	64		0.00		C	NM_007214	Missense_Mutation	108222574	-1	10		49		tier1	no_errors	ENST00000369002	ensembl	human	known	74_37	missense	16.95		SNP	1.000	T	10	49
XPNPEP1	7511	genome.wustl.edu	37	10	111637563	111637563	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:111637563G>A	ENST00000502935.1	-	14	1423	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.A392V|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A321V|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A435V					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GTGAATGATGGCGCCGTTGGG	0.532													ENSG00000108039																																					0													128.0	116.0	120.0					10																	111637563		2203	4300	6503	SO:0001583	missense	0			-		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1304C>T	10.37:g.111637563G>A	ENSP00000421566:p.Ala435Val			Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.A435V	ENST00000502935.1	37	c.1304	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	G	34	5.348459	0.95807	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.49	5.49	0.81192	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	H	0.99590	4.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.986;0.996	D	0.96412	0.9305	10	0.87932	D	0	-16.7166	17.5727	0.87939	0.0:0.0:1.0:0.0	.	435;435;392	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	V	435;321;435;392	ENSP00000421566:A435V;ENSP00000358697:A321V;ENSP00000324011:A435V;ENSP00000358694:A392V	ENSP00000324011:A435V	A	-	2	0	XPNPEP1	111627553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.220000	0.95180	2.575000	0.86900	0.460000	0.39030	GCC	-	XPNPEP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.532	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	0	0		73	73		0.00		G			111637563	-1	11		73		tier1	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	13.10		SNP	1.000	A	11	73
PYGO1	26108	genome.wustl.edu	37	15	55839183	55839183	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:55839183C>T	ENST00000302000.6	-	3	392	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	PYGO1_ENST00000563719.1_Missense_Mutation_p.G100S	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	100	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GTACTATAGCCTCCAAAGCCA	0.453													ENSG00000171016																																					0													112.0	101.0	105.0					15																	55839183		2193	4292	6485	SO:0001583	missense	0			-	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.298G>A	15.37:g.55839183C>T	ENSP00000302327:p.Gly100Ser		A7Y2D6	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G100S	ENST00000302000.6	37	c.298	CCDS10155.1	15	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115448	0.56505	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.54479	0.57	5.23	5.23	0.72850	.	0.120536	0.56097	D	0.000028	T	0.35970	0.0950	N	0.14661	0.345	0.41923	D	0.990523	P;P	0.37330	0.59;0.59	B;B	0.34180	0.177;0.177	T	0.18618	-1.0331	10	0.19590	T	0.45	-9.0858	18.1738	0.89754	0.0:1.0:0.0:0.0	.	100;100	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	S	100	ENSP00000302327:G100S	ENSP00000302327:G100S	G	-	1	0	PYGO1	53626475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.199000	0.51043	2.601000	0.87937	0.585000	0.79938	GGC	-	PYGO1	-	NULL		0.453	PYGO1-001	KNOWN	basic|CCDS	protein_coding	PYGO1	HGNC	protein_coding	OTTHUMT00000254977.2	0	0		69	69		0.00		C	NM_015617		55839183	-1	24		29		tier1	no_errors	ENST00000302000	ensembl	human	known	74_37	missense	45.28		SNP	1.000	T	24	29
ANKRD33B	651746	genome.wustl.edu	37	5	10649624	10649624	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:10649624C>T	ENST00000296657.5	+	4	884	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_001164440.1	NP_001157912.1	A6NCL7	AN33B_HUMAN	ankyrin repeat domain 33B	295																	ACGCCGCGCTCCGTGCGGGGC	0.721													ENSG00000164236																																					0													2.0	4.0	3.0					5																	10649624		523	1327	1850	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.884C>T	5.37:g.10649624C>T	ENSP00000296657:p.Ser295Phe			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S295F	ENST00000296657.5	37	c.884	CCDS47191.1	5	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.536355	0.00942	.	.	ENSG00000164236	ENST00000296657	T	0.38401	1.14	5.47	2.41	0.29592	.	0.675714	0.15294	N	0.270038	T	0.21145	0.0509	L	0.28400	0.85	0.09310	N	1	.	.	.	.	.	.	T	0.25641	-1.0126	8	0.06236	T	0.91	-21.364	7.7332	0.28799	0.1997:0.6494:0.0:0.1509	.	.	.	.	F	295	ENSP00000296657:S295F	ENSP00000296657:S295F	S	+	2	0	ANKRD33B	10702624	0.002000	0.14202	0.029000	0.17559	0.002000	0.02628	1.638000	0.37165	0.664000	0.31047	0.650000	0.86243	TCC	-	ANKRD33B	-	NULL		0.721	ANKRD33B-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf|CCDS	protein_coding	ANKRD33B	HGNC	protein_coding	OTTHUMT00000367037.3	0	0		16	16		0.00		C	XM_001130634		10649624	+1	12		18		tier1	no_errors	ENST00000296657	ensembl	human	novel	74_37	missense	40.00		SNP	0.000	T	12	18
GPR12	2835	genome.wustl.edu	37	13	27333164	27333164	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:27333164G>T	ENST00000381436.2	-	1	1263	c.801C>A	c.(799-801)ttC>ttA	p.F267L	GPR12_ENST00000405846.3_Missense_Mutation_p.F267L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	267					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AATAGAGGGTGAAAGGCATCC	0.552													ENSG00000132975																																					0													105.0	101.0	102.0					13																	27333164		2203	4300	6503	SO:0001583	missense	0			-	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.801C>A	13.37:g.27333164G>T	ENSP00000370844:p.Phe267Leu		Q5T8P3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn	p.F267L	ENST00000381436.2	37	c.801	CCDS9319.1	13	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087482	0.20390	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.72942	-0.7;-0.7	5.33	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.39326	1.205	0.58432	D	0.999995	B	0.26708	0.157	B	0.38803	0.282	T	0.56673	-0.7940	10	0.20046	T	0.44	.	9.4491	0.38714	0.2223:0.0:0.7777:0.0	.	267	P47775	GPR12_HUMAN	L	267	ENSP00000384932:F267L;ENSP00000370844:F267L	ENSP00000370844:F267L	F	-	3	2	GPR12	26231164	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.505000	0.22642	1.264000	0.44198	0.561000	0.74099	TTC	-	GPR12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	0	0		34	34		0.00		G			27333164	-1	4		26		tier1	no_errors	ENST00000381436	ensembl	human	known	74_37	missense	13.33		SNP	1.000	T	4	26
TRAPPC2P1	10597	genome.wustl.edu	37	19	57876603	57876603	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57876603G>A	ENST00000596755.1	+	1	1669	c.402G>A	c.(400-402)ggG>ggA	p.G134G	AC003002.4_ENST00000597658.1_Intron|ZNF547_ENST00000282282.3_Intron|TRAPPC2P1_ENST00000543226.1_Silent_p.G134G			P0DI82	TPC2B_HUMAN	trafficking protein particle complex 2 pseudogene 1	134					ER to Golgi vesicle-mediated transport (GO:0006888)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				kidney(1)|lung(2)	3						AGTTTCTTGGGAAGAAACACC	0.289													ENSG00000256060																																					0																																										SO:0001819	synonymous_variant	0			-			19q13.43	2009-03-02	2009-03-02	2009-03-02		ENSG00000256060			10710	pseudogene	pseudogene			"""spondyloepiphyseal dysplasia, late, pseudogene"""	SEDLP			Standard	NR_002166		Approved	SEDLP1		P0DI82		ENST00000596755.1:c.402G>A	19.37:g.57876603G>A			A6NEG0|O14582|Q9HD16	Silent	SNP	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	p.G134	ENST00000596755.1	37	c.402		19																																																																																			-	TRAPPC2P1	-	pfam_Sedlin,superfamily_Longin-like_dom		0.289	TRAPPC2P1-003	PUTATIVE	basic|appris_principal	protein_coding	TRAPPC2P1	HGNC	protein_coding	OTTHUMT00000465929.1	0	0		57	57		0.00		G			57876603	+1	45		40		tier1	no_errors	ENST00000543226	ensembl	human	putative	74_37	silent	52.33		SNP	1.000	A	45	40
ATP2A1	487	genome.wustl.edu	37	16	28912047	28912047	+	Missense_Mutation	SNP	G	G	A	rs182084601		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:28912047G>A	ENST00000357084.3	+	15	2177	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	ATP2A1_ENST00000536376.1_Missense_Mutation_p.R512Q|ATP2A1_ENST00000395503.4_Missense_Mutation_p.R637Q	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	637					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCCATCTGCCGGCGAATTGGC	0.642													ENSG00000196296	G|||	1	0.000199681	0.0	0.0	5008	,	,		16185	0.0		0.001	False		,,,				2504	0.0																0													93.0	76.0	81.0					16																	28912047		2197	4300	6497	SO:0001583	missense	0			GMAF=0.0005		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1910G>A	16.37:g.28912047G>A	ENSP00000349595:p.Arg637Gln		A8K5J9|B3KY17|O14984	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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.R637Q	ENST00000357084.3	37	c.1910	CCDS10643.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.2	4.901598	0.92035	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.95918	-3.85;-3.85;-3.85	5.31	3.35	0.38373	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.054201	0.64402	N	0.000001	D	0.96846	0.8970	M	0.79614	2.46	0.46396	D	0.999025	D;D;D	0.89917	1.0;0.998;0.988	D;P;P	0.64237	0.923;0.853;0.676	D	0.96238	0.9173	10	0.72032	D	0.01	.	11.2537	0.49041	0.153:0.0:0.847:0.0	.	512;637;637	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	Q	637;637;674;512	ENSP00000349595:R637Q;ENSP00000378879:R637Q;ENSP00000443101:R512Q	ENSP00000349595:R637Q	R	+	2	0	ATP2A1	28819548	1.000000	0.71417	0.621000	0.29145	0.978000	0.69477	7.951000	0.87819	0.639000	0.30564	-0.344000	0.07964	CGG	rs182084601	ATP2A1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA		0.642	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	0	0		65	65		0.00		G	NM_004320		28912047	+1	34		55		tier1	no_errors	ENST00000357084	ensembl	human	known	74_37	missense	37.78		SNP	0.995	A	34	55
LMNTD2	256329	genome.wustl.edu	37	11	557835	557835	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:557835G>A	ENST00000329451.3	-	5	618				RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN												NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGATGGGGAGGGCTGGGGAG	0.697													ENSG00000254815																																					0													8.0	8.0	8.0					11																	557835		2158	4250	6408	SO:0001627	intron_variant	0			-																												ENST00000329451.3:c.555+48C>T	11.37:g.557835G>A				R	SNP	-	NULL	ENST00000329451.3	37	NULL	CCDS7701.1	11																																																																																			-	RP11-496I9.1	-	-		0.697	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254815	Clone_based_vega_gene	protein_coding	OTTHUMT00000254973.2	0	0		20	20		0.00		G			557835	+1	15		32		tier1	no_errors	ENST00000527620	ensembl	human	known	74_37	rna	31.91		SNP	0.000	A	15	32
NBPF6	653149	genome.wustl.edu	37	1	108926209	108926209	+	Intron	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:108926209T>G	ENST00000444143.2	+	1	183				NBPF6_ENST00000294652.8_Intron|NBPF5P_ENST00000357046.4_RNA			Q5VWK0	NBPF6_HUMAN	neuroblastoma breakpoint family, member 6							cytoplasm (GO:0005737)				endometrium(2)	2						CAATCCCAAATGGGATGAAAC	0.483													ENSG00000243967																																					0																																										SO:0001627	intron_variant	0			-		CCDS44184.1	1p13.3	2013-01-17				ENSG00000186086		"""neuroblastoma breakpoint family"""	31988	protein-coding gene	gene with protein product		613996				16079250	Standard	NM_001143987		Approved		uc009wep.3	Q5VWK0	OTTHUMG00000039830	ENST00000444143.2:c.-36+7606T>G	1.37:g.108926209T>G			A4QN25	R	SNP	-	NULL	ENST00000444143.2	37	NULL	CCDS44184.1	1																																																																																			-	NBPF5P	-	-		0.483	NBPF6-203	KNOWN	basic|CCDS	protein_coding	NBPF5P	HGNC	protein_coding	OTTHUMT00000276886.3	0	0		112	112		0.00		T	XM_926213		108926209	+1	16		100		tier1	no_errors	ENST00000357046	ensembl	human	known	74_37	rna	13.79		SNP	0.000	G	16	100
CEBPZ	10153	genome.wustl.edu	37	2	37455748	37455748	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:37455748G>A	ENST00000234170.5	-	2	733	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	196					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CCTGAGGCTGGGGTTTCAAAG	0.383													ENSG00000115816																																					0													121.0	124.0	123.0					2																	37455748		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.588C>T	2.37:g.37455748G>A			Q8NE75	Silent	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.P196	ENST00000234170.5	37	c.588	CCDS1787.1	2																																																																																			-	CEBPZ	-	NULL		0.383	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	0	0		35	35		0.00		G	NM_005760		37455748	-1	14		35		tier1	no_errors	ENST00000234170	ensembl	human	known	74_37	silent	28.57		SNP	0.059	A	14	35
TTN	7273	genome.wustl.edu	37	2	179606002	179606002	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179606002G>A	ENST00000591111.1	-	46	11231	c.11007C>T	c.(11005-11007)atC>atT	p.I3669I	TTN_ENST00000359218.5_Silent_p.I3748I|TTN_ENST00000460472.2_Silent_p.I3623I|TTN_ENST00000589042.1_Silent_p.I3986I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I3815I			Q8WZ42	TITIN_HUMAN	titin	13975	Ig-like 22.				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)			GGTTATGAATGATAGTGTAAT	0.438													ENSG00000155657																																					0													95.0	93.0	94.0					2																	179606002		1904	4128	6032	SO:0001819	synonymous_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.11007C>T	2.37:g.179606002G>A			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	Silent	SNP	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.I3815	ENST00000591111.1	37	c.11445		2																																																																																			-	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		43	43		0.00		G	NM_133378		179606002	-1	9		50		tier1	no_errors	ENST00000342175	ensembl	human	known	74_37	silent	15.25		SNP	0.985	A	9	50
SLC22A5	6584	genome.wustl.edu	37	5	131719897	131719897	+	Silent	SNP	C	C	T	rs569496252	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:131719897C>T	ENST00000245407.3	+	3	777	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	SLC22A5_ENST00000435065.2_Silent_p.L210L	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	186			L -> P (in CDSP). {ECO:0000269|PubMed:20574985}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CTTCAGCTTCCTGCAGATCTT	0.493													ENSG00000197375	C|||	2	0.000399361	0.0	0.0	5008	,	,		21832	0.0		0.0	False		,,,				2504	0.002																0													217.0	195.0	202.0					5																	131719897		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.556C>T	5.37:g.131719897C>T			A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L210	ENST00000245407.3	37	c.628	CCDS4154.1	5																																																																																			-	SLC22A5	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.493	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	HGNC	protein_coding	OTTHUMT00000132631.1	0	0		98	98		0.00		C	NM_003060		131719897	+1	41		73		tier1	no_errors	ENST00000435065	ensembl	human	known	74_37	silent	35.96		SNP	0.994	T	41	73
ZNF99	7652	genome.wustl.edu	37	19	22941204	22941204	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:22941204G>A	ENST00000596209.1	-	4	1597	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ZNF99_ENST00000397104.3_Missense_Mutation_p.H412Y	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	503					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)				TCTTCCATATGAATTACCTTA	0.343													ENSG00000213973																																					0													42.0	43.0	43.0					19																	22941204		2058	4216	6274	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.1507C>T	19.37:g.22941204G>A	ENSP00000472969:p.His503Tyr		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.H412Y	ENST00000596209.1	37	c.1234	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	13.48	2.250801	0.39797	.	.	ENSG00000213973	ENST00000397104	T	0.28895	1.59	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59824	0.2222	M	0.94063	3.49	0.36033	D	0.839539	D	0.89917	1.0	D	0.71870	0.975	T	0.70777	-0.4780	9	0.87932	D	0	.	9.2264	0.37410	0.0:0.0:1.0:0.0	.	412	A8MXY4	ZNF99_HUMAN	Y	412	ENSP00000380293:H412Y	ENSP00000380293:H412Y	H	-	1	0	ZNF99	22733044	0.016000	0.18221	0.004000	0.12327	0.025000	0.11179	1.044000	0.30329	0.597000	0.29811	0.194000	0.17425	CAT	-	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	0	0		83	83		0.00		G	XM_065124		22941204	-1	29		95		tier1	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	23.39		SNP	0.977	A	29	95
ACCSL	390110	genome.wustl.edu	37	11	44074618	44074618	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:44074618G>A	ENST00000378832.1	+	7	1004	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	316					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTAGGCTTGAGGTAAGGTGGG	0.473													ENSG00000205126																																					0													83.0	81.0	82.0					11																	44074618		1908	4142	6050	SO:0001630	splice_region_variant	0			-		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.948+1G>A	11.37:g.44074618G>A				Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.E316	ENST00000378832.1	37	c.948	CCDS41636.1	11																																																																																			-	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.473	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	0	0		48	48		0.00		G	NM_001031854	Silent	44074618	+1	11		39		tier1	no_errors	ENST00000378832	ensembl	human	known	74_37	silent	22.00		SNP	0.952	A	11	39
DIP2A	23181	genome.wustl.edu	37	21	47953932	47953932	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47953932C>T	ENST00000417564.2	+	12	1466	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	DIP2A_ENST00000400274.1_Missense_Mutation_p.S478F|DIP2A_ENST00000435722.3_Missense_Mutation_p.S482F|DIP2A_ENST00000457905.3_Missense_Mutation_p.S482F|DIP2A_ENST00000427143.2_Missense_Mutation_p.S418F|DIP2A_ENST00000318711.7_Missense_Mutation_p.S483F|Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000466639.1_Missense_Mutation_p.S439F			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	482					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCCCCGCTCTCCTGGCTAGTG	0.587													ENSG00000160305																																					0													29.0	31.0	31.0					21																	47953932		2045	4196	6241	SO:0001583	missense	0			-	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1445C>T	21.37:g.47953932C>T	ENSP00000392066:p.Ser482Phe		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S483F	ENST00000417564.2	37	c.1448	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644441	0.29246	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.43294	0.95;0.97;0.95;0.97;0.97;0.97;0.95	5.0	3.0	0.34707	AMP-dependent synthetase/ligase (1);	0.948255	0.08867	N	0.882094	T	0.30634	0.0771	L	0.29908	0.895	0.18873	N	0.999984	B;B;B;B;B;B	0.28605	0.027;0.018;0.217;0.003;0.014;0.016	B;B;B;B;B;B	0.29440	0.094;0.102;0.043;0.063;0.01;0.031	T	0.27905	-1.0060	10	0.59425	D	0.04	-6.3754	5.4957	0.16802	0.2042:0.6642:0.0:0.1316	.	483;418;439;482;482;482	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	F	478;418;483;439;482;439;482;482	ENSP00000383133:S478F;ENSP00000400528:S418F;ENSP00000323633:S483F;ENSP00000393434:S482F;ENSP00000430249:S439F;ENSP00000415089:S482F;ENSP00000392066:S482F	ENSP00000323633:S483F	S	+	2	0	DIP2A	46778360	0.022000	0.18835	0.693000	0.30195	0.631000	0.37964	1.174000	0.31932	1.301000	0.44836	0.650000	0.86243	TCC	-	DIP2A	-	pfam_AMP-dep_Synth/Lig		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	0	0		37	37		0.00		C	NM_015151		47953932	+1	22		41		tier1	no_errors	ENST00000318711	ensembl	human	known	74_37	missense	34.92		SNP	0.551	T	22	41
SLC2A9	56606	genome.wustl.edu	37	4	9889256	9889256	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:9889256G>A	ENST00000264784.3	-	10	1279	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	SLC2A9_ENST00000506583.1_Missense_Mutation_p.P380L|SLC2A9_ENST00000309065.3_Missense_Mutation_p.P380L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	409					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GGGGACCCAGGGGGCGTGGTC	0.642													ENSG00000109667																																					0													78.0	75.0	76.0					4																	9889256		2201	4296	6497	SO:0001583	missense	0			-	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1226C>T	4.37:g.9889256G>A	ENSP00000264784:p.Pro409Leu		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.P409L	ENST00000264784.3	37	c.1226	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	G	5.789	0.329905	0.10956	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.74002	-0.8;-0.8;-0.8	5.08	2.42	0.29668	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.380247	0.30401	N	0.009711	T	0.73497	0.3594	M	0.75615	2.305	0.32590	N	0.527343	B;B	0.24043	0.078;0.096	B;B	0.37091	0.155;0.241	T	0.73357	-0.4008	10	0.66056	D	0.02	.	4.8418	0.13494	0.1806:0.0:0.6496:0.1698	.	380;409	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	L	380;409;380	ENSP00000422209:P380L;ENSP00000264784:P409L;ENSP00000311383:P380L	ENSP00000264784:P409L	P	-	2	0	SLC2A9	9498354	0.869000	0.29996	0.370000	0.25965	0.141000	0.21300	1.009000	0.29886	0.267000	0.21916	-1.401000	0.01141	CCC	-	SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.642	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	0	0		71	71		0.00		G			9889256	-1	26		81		tier1	no_errors	ENST00000264784	ensembl	human	known	74_37	missense	24.30		SNP	0.653	A	26	81
TESK1	7016	genome.wustl.edu	37	9	35607352	35607352	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:35607352G>A	ENST00000336395.5	+	5	816	c.566G>A	c.(565-567)gGc>gAc	p.G189D	TESK1_ENST00000498522.1_Intron|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGATCGAGGCTTCACCGCT	0.542													ENSG00000107140																																					0													153.0	131.0	139.0					9																	35607352		2203	4300	6503	SO:0001583	missense	0			-	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.566G>A	9.37:g.35607352G>A	ENSP00000338127:p.Gly189Asp		Q8IXZ8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G189D	ENST00000336395.5	37	c.566	CCDS6580.1	9	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025235	0.54683	.	.	ENSG00000107140	ENST00000336395	T	0.29397	1.57	5.48	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000326	T	0.20941	0.0504	N	0.16130	0.375	0.36828	D	0.886754	B	0.32968	0.392	B	0.33960	0.173	T	0.16867	-1.0388	10	0.42905	T	0.14	-5.3262	14.6521	0.68805	0.0:0.0:0.8534:0.1466	.	189	Q15569	TESK1_HUMAN	D	189	ENSP00000338127:G189D	ENSP00000338127:G189D	G	+	2	0	TESK1	35597352	1.000000	0.71417	0.957000	0.39632	0.974000	0.67602	2.180000	0.42537	1.284000	0.44531	0.561000	0.74099	GGC	-	TESK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.542	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	HGNC	protein_coding	OTTHUMT00000052314.1	0	0		56	56		0.00		G	NM_006285		35607352	+1	19		26		tier1	no_errors	ENST00000336395	ensembl	human	known	74_37	missense	42.22		SNP	0.936	A	19	26
SOHLH1	402381	genome.wustl.edu	37	9	138588519	138588519	+	Silent	SNP	C	C	T	rs374493888		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:138588519C>T	ENST00000298466.5	-	5	660	c.600G>A	c.(598-600)acG>acA	p.T200T	SOHLH1_ENST00000425225.1_Silent_p.T200T	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	200					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CACACTTGTCCGTGCCCAGGG	0.682													ENSG00000165643																																					0								C	,	2,4404	4.2+/-10.8	0,2,2201	51.0	46.0	47.0		600,600	-0.1	0.0	9		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SOHLH1	NM_001012415.2,NM_001101677.1	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	200/329,200/388	138588519	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.600G>A	9.37:g.138588519C>T			C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T200	ENST00000298466.5	37	c.600	CCDS35174.1	9																																																																																			-	SOHLH1	-	NULL		0.682	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOHLH1	HGNC	protein_coding	OTTHUMT00000055018.2	0	0		93	93		0.00		C	NM_001012415		138588519	-1	46		96		tier1	no_errors	ENST00000425225	ensembl	human	known	74_37	silent	32.39		SNP	0.000	T	46	96
C20orf96	140680	genome.wustl.edu	37	20	257745	257745	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:257745C>T	ENST00000360321.2	-	8	903	c.765G>A	c.(763-765)ctG>ctA	p.L255L	C20orf96_ENST00000382369.5_Silent_p.L220L|C20orf96_ENST00000400269.3_Silent_p.L197L	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	255										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ACAAGGATTCCAGGACCTTTC	0.547													ENSG00000196476																																					0													139.0	154.0	149.0					20																	257745		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.765G>A	20.37:g.257745C>T			A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	NULL	p.L255	ENST00000360321.2	37	c.765	CCDS12994.1	20																																																																																			-	C20orf96	-	NULL		0.547	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf96	HGNC	protein_coding	OTTHUMT00000077439.2	0	0		20	20		0.00		C	NM_153269		257745	-1	15		27		tier1	no_errors	ENST00000360321	ensembl	human	known	74_37	silent	35.71		SNP	0.762	T	15	27
GBP2	2634	genome.wustl.edu	37	1	89585888	89585888	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:89585888G>A	ENST00000370466.3	-	4	670	c.402C>T	c.(400-402)atC>atT	p.I134I	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	134	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCTGCTGGTTGATGGTTCCCA	0.453													ENSG00000162645																																					0													219.0	195.0	204.0					1																	89585888		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.402C>T	1.37:g.89585888G>A			Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.I134	ENST00000370466.3	37	c.402	CCDS719.1	1																																																																																			-	GBP2	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.453	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	0	0		105	105		0.00		G	NM_004120		89585888	-1	21		115		tier1	no_errors	ENST00000370466	ensembl	human	known	74_37	silent	15.44		SNP	1.000	A	21	115
TRPV2	51393	genome.wustl.edu	37	17	16342292	16342292	+	IGR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:16342292C>T	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGTCCCCCTCCTTTTGTGAGG	0.532													ENSG00000175061																																					0																																										SO:0001628	intergenic_variant	0			-	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342292C>T			A6NML2|A8K0Z0|Q9Y670	R	SNP	-	NULL	ENST00000338560.7	37	NULL	CCDS32576.1	17																																																																																			-	C17orf76-AS1	-	-		0.532	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf76-AS1	HGNC	protein_coding	OTTHUMT00000130464.2	0	0		24	24		0.00		C	NM_016113		16342292	+1	13		30		tier1	no_errors	ENST00000487066	ensembl	human	known	74_37	rna	30.23		SNP	0.001	T	13	30
CCKAR	886	genome.wustl.edu	37	4	26483651	26483651	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:26483651delT	ENST00000295589.3	-	5	1090	c.896delA	c.(895-897)aacfs	p.N299fs		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	299					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGCGGAGCTGTTACTCCGGAT	0.612													ENSG00000163394																																					0													99.0	87.0	91.0					4																	26483651		2203	4300	6503	SO:0001589	frameshift_variant	0				L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.896delA	4.37:g.26483651delT	ENSP00000295589:p.Asn299fs		B2R9Z5	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt	p.N299fs	ENST00000295589.3	37	c.896	CCDS3438.1	4																																																																																				CCKAR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A		0.612	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKAR	HGNC	protein_coding	OTTHUMT00000250418.2	0	0		52	52		0.00		T			26483651	-1	12		52		tier1	no_errors	ENST00000295589	ensembl	human	known	74_37	frame_shift_del	18.75		DEL	0.996	-	12	52
TMEM192	201931	genome.wustl.edu	37	4	166006749	166006749	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:166006749C>T	ENST00000306480.6	-	5	811	c.666G>A	c.(664-666)gaG>gaA	p.E222E	TMEM192_ENST00000506087.1_Silent_p.E218E	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	222						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TGAATCCAGTCTCCGAGGTAA	0.333													ENSG00000170088																																					0													93.0	88.0	89.0					4																	166006749		1795	4064	5859	SO:0001819	synonymous_variant	0			-	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.666G>A	4.37:g.166006749C>T			Q7Z3A1|Q8N928	Silent	SNP	NULL	p.E222	ENST00000306480.6	37	c.666	CCDS43279.1	4																																																																																			-	TMEM192	-	NULL		0.333	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM192	HGNC	protein_coding	OTTHUMT00000364310.3	0	0		93	93		0.00		C	NM_152681		166006749	-1	31		63		tier1	no_errors	ENST00000306480	ensembl	human	known	74_37	silent	32.98		SNP	1.000	T	31	63
NBPF1	55672	genome.wustl.edu	37	1	16918513	16918513	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:16918513C>G	ENST00000430580.2	-	7	891	c.4G>C	c.(4-6)Gtg>Ctg	p.V2L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	2						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCTGATACCACCATGCTGACG	0.478													ENSG00000219481																																					0													260.0	262.0	261.0					1																	16918513		2198	4299	6497	SO:0001583	missense	0			-	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.4G>C	1.37:g.16918513C>G	ENSP00000474456:p.Val2Leu		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	NULL	p.V2L	ENST00000430580.2	37	c.4		1																																																																																			-	NBPF1	-	NULL		0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	0	0		471	471		0.00		C	NM_017940		16918513	-1	56		533		tier1	no_errors	ENST00000392963	ensembl	human	known	74_37	missense	9.48		SNP	0.030	G	56	533
SNED1	25992	genome.wustl.edu	37	2	242002276	242002276	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:242002276C>T	ENST00000310397.8	+	17	2326	c.2326C>T	c.(2326-2328)Ctg>Ttg	p.L776L	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Silent_p.L776L|SNED1_ENST00000342631.6_Silent_p.L776L|SNED1_ENST00000401884.1_Silent_p.L776L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	776	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGCTGGGTACCTGTGCCTCTG	0.622													ENSG00000162804																																					0													39.0	39.0	39.0					2																	242002276		2025	4178	6203	SO:0001819	synonymous_variant	0			-	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2326C>T	2.37:g.242002276C>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.L776	ENST00000310397.8	37	c.2326	CCDS46562.1	2																																																																																			-	SNED1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.622	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	0	0		32	32		0.00		C	XM_059482		242002276	+1	11		46		tier1	no_errors	ENST00000310397	ensembl	human	known	74_37	silent	19.30		SNP	1.000	T	11	46
MS4A1	931	genome.wustl.edu	37	11	60235885	60235885	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:60235885C>T	ENST00000534668.1	+	7	1127	c.838C>T	c.(838-840)Cca>Tca	p.P280S	MS4A1_ENST00000528313.1_Missense_Mutation_p.P113S|MS4A1_ENST00000345732.4_Missense_Mutation_p.P280S|MS4A1_ENST00000389939.2_Missense_Mutation_p.P280S|MS4A1_ENST00000532073.1_Missense_Mutation_p.P267S	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	280					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GACGAACTTTCCAGAACCTCC	0.378													ENSG00000156738																																					0													106.0	104.0	105.0					11																	60235885		2203	4300	6503	SO:0001583	missense	0			-	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.838C>T	11.37:g.60235885C>T	ENSP00000433277:p.Pro280Ser		A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	pfam_CD20-like	p.P280S	ENST00000534668.1	37	c.838	CCDS31570.1	11	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952877	0.34471	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.52295	1.54;0.67;1.54;1.54	5.32	3.41	0.39046	.	8.433920	0.00166	N	0.000001	T	0.59115	0.2170	L	0.32530	0.975	0.35788	D	0.822161	D;P;P	0.53312	0.959;0.931;0.931	P;B;B	0.57960	0.83;0.381;0.381	T	0.39035	-0.9633	10	0.66056	D	0.02	-8.0915	12.3897	0.55352	0.0:0.6419:0.3581:0.0	.	113;267;280	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	S	280;267;280;113;280	ENSP00000314620:P280S;ENSP00000433519:P267S;ENSP00000433277:P280S;ENSP00000374589:P280S	ENSP00000314620:P280S	P	+	1	0	MS4A1	59992461	0.901000	0.30685	0.804000	0.32291	0.544000	0.35116	1.371000	0.34250	0.693000	0.31634	0.655000	0.94253	CCA	-	MS4A1	-	NULL		0.378	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A1	HGNC	protein_coding	OTTHUMT00000395402.1	0	0		88	88		0.00		C			60235885	+1	38		88		tier1	no_errors	ENST00000345732	ensembl	human	known	74_37	missense	30.16		SNP	0.957	T	38	88
MYLK	4638	genome.wustl.edu	37	3	123401113	123401113	+	Missense_Mutation	SNP	G	G	A	rs151294221		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:123401113G>A	ENST00000475616.1	-	17	3609	c.3610C>T	c.(3610-3612)Cgg>Tgg	p.R1204W	MYLK_ENST00000359169.1_Missense_Mutation_p.R1204W|MYLK_ENST00000360304.3_Missense_Mutation_p.R1204W|MYLK_ENST00000346322.5_Missense_Mutation_p.R1135W|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_Missense_Mutation_p.R4W|MYLK_ENST00000360772.3_Missense_Mutation_p.R1204W			Q15746	MYLK_HUMAN	myosin light chain kinase	1204	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGGGCCTCCGGGATTTCATC	0.567													ENSG00000065534																																					0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4404		0,0,2202	61.0	54.0	57.0		3610,3403,3610,3403	3.7	1.0	3	dbSNP_134	57	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	101,101,101,101	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1204/1915,1135/1846,1204/1864,1135/1795	123401113	3,13001	2202	4300	6502	SO:0001583	missense	0			-	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3610C>T	3.37:g.123401113G>A	ENSP00000418335:p.Arg1204Trp		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,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.R1204W	ENST00000475616.1	37	c.3610	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046213	0.75846	0.0	3.49E-4	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.67865	-0.29;-0.23;-0.29;-0.23;-0.03;-0.23;1.02	4.56	3.66	0.41972	.	.	.	.	.	T	0.70378	0.3217	L	0.29908	0.895	0.30911	N	0.729061	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.999;0.997	D;D;D;D;D;P	0.72338	0.951;0.951;0.977;0.928;0.971;0.881	T	0.69503	-0.5128	9	0.87932	D	0	.	9.9165	0.41436	0.0:0.0:0.7969:0.2031	.	1204;282;1135;1204;1135;1204	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	W	1204;1204;1204;1135;4;1204;4	ENSP00000354004:R1204W;ENSP00000353452:R1204W;ENSP00000352088:R1204W;ENSP00000320622:R1135W;ENSP00000346846:R4W;ENSP00000418335:R1204W;ENSP00000422984:R4W	ENSP00000320622:R1135W	R	-	1	2	MYLK	124883803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	1.214000	0.43395	0.561000	0.74099	CGG	rs151294221	MYLK	-	NULL		0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	0	0		70	70		0.00		G	NM_053025		123401113	-1	21		64		tier1	no_errors	ENST00000360304	ensembl	human	known	74_37	missense	24.71		SNP	0.999	A	21	64
LIPC	3990	genome.wustl.edu	37	15	58855853	58855853	+	Missense_Mutation	SNP	G	G	A	rs6079	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:58855853G>A	ENST00000356113.6	+	10	1934	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	LIPC_ENST00000433326.2_Missense_Mutation_p.S379N|LIPC_ENST00000299022.5_Missense_Mutation_p.S440N|LIPC_ENST00000414170.3_Missense_Mutation_p.S440N			P11150	LIPC_HUMAN	lipase, hepatic	440	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.		S -> N (in dbSNP:rs6079). {ECO:0000269|PubMed:10391209}.		cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ATCCCATGGAGCACAGGGCCG	0.527													ENSG00000166035																																					0								G	ASN/SER	1,4383	2.1+/-5.4	0,1,2191	88.0	71.0	77.0		1319	2.9	0.7	15	dbSNP_52	77	0,8584		0,0,4292	no	missense	LIPC	NM_000236.2	46	0,1,6483	AA,AG,GG		0.0,0.0228,0.0077	benign	440/500	58855853	1,12967	2192	4292	6484	SO:0001583	missense	0			-		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1319G>A	15.37:g.58855853G>A	ENSP00000348425:p.Ser440Asn		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.S440N	ENST00000356113.6	37	c.1319	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	G	4.610	0.113297	0.08831	2.28E-4	0.0	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.89050	-2.2;-2.2;-2.2;-2.46	5.9	2.87	0.33458	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	2.213760	0.02027	N	0.048235	D	0.84579	0.5503	L	0.43152	1.355	0.21290	N	0.999736	B;B	0.26602	0.056;0.154	B;B	0.31101	0.042;0.124	T	0.68326	-0.5438	10	0.08179	T	0.78	.	6.5675	0.22521	0.0793:0.2094:0.6099:0.1014	rs6079;rs6079	379;440	E7EUK6;P11150	.;LIPC_HUMAN	N	440;440;440;379	ENSP00000348425:S440N;ENSP00000395569:S440N;ENSP00000299022:S440N;ENSP00000395002:S379N	ENSP00000299022:S440N	S	+	2	0	LIPC	56643145	0.878000	0.30173	0.726000	0.30738	0.004000	0.04260	1.412000	0.34714	1.465000	0.48006	0.563000	0.77884	AGC	rs6079	LIPC	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom		0.527	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	HGNC	protein_coding	OTTHUMT00000416209.1	0	0		36	36		0.00		G			58855853	+1	25		21		tier1	no_errors	ENST00000299022	ensembl	human	known	74_37	missense	54.35		SNP	0.651	A	25	21
DPF2	5977	genome.wustl.edu	37	11	65108977	65108977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65108977C>T	ENST00000528416.1	+	4	542	c.409C>T	c.(409-411)Cga>Tga	p.R137*	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Nonsense_Mutation_p.R137*|DPF2_ENST00000415073.2_Nonsense_Mutation_p.R137*	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	137					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CCCGGATCCCCGAGTTGATGA	0.562													ENSG00000133884																																					0													87.0	78.0	81.0					11																	65108977		2201	4297	6498	SO:0001587	stop_gained	0			-	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.409C>T	11.37:g.65108977C>T	ENSP00000436901:p.Arg137*		A8K7C9|B4DT58	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2	p.R137*	ENST00000528416.1	37	c.409	CCDS8100.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.130762	0.97310	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	.	.	.	5.31	4.38	0.52667	.	0.269275	0.19876	N	0.104088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-4.6481	12.8962	0.58101	0.1639:0.8361:0.0:0.0	.	.	.	.	X	137	.	ENSP00000252268:R137X	R	+	1	2	DPF2	64865553	0.985000	0.35326	1.000000	0.80357	0.967000	0.64934	3.188000	0.50958	1.214000	0.43395	0.467000	0.42956	CGA	-	DPF2	-	NULL		0.562	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPF2	HGNC	protein_coding	OTTHUMT00000387293.3	0	0		61	61		0.00		C	NM_006268		65108977	+1	36		74		tier1	no_errors	ENST00000528416	ensembl	human	known	74_37	nonsense	32.73		SNP	1.000	T	36	74
C8orf34	116328	genome.wustl.edu	37	8	69358599	69358599	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:69358599G>A	ENST00000539993.1	+	3	802	c.253G>A	c.(253-255)Gat>Aat	p.D85N	C8orf34_ENST00000518698.1_Missense_Mutation_p.D171N|C8orf34_ENST00000348340.2_Missense_Mutation_p.D85N|C8orf34_ENST00000337103.4_Missense_Mutation_p.D60N|C8orf34_ENST00000523686.1_Missense_Mutation_p.D85N|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	85										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)			CAGAAGCTATGATAAACCTTG	0.338													ENSG00000165084																																					0													101.0	103.0	102.0					8																	69358599		2203	4300	6503	SO:0001583	missense	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.253G>A	8.37:g.69358599G>A	ENSP00000438159:p.Asp85Asn		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.D171N	ENST00000539993.1	37	c.511		8	.	.	.	.	.	.	.	.	.	.	G	36	5.637853	0.96693	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	T;T;T	0.54479	0.66;0.71;0.57	6.02	6.02	0.97574	.	0.098719	0.64402	D	0.000001	T	0.68449	0.3002	L	0.47716	1.5	0.49687	D	0.999814	P;D;P	0.71674	0.592;0.998;0.592	B;D;B	0.81914	0.403;0.995;0.403	T	0.62431	-0.6856	9	.	.	.	-19.1217	20.5407	0.99260	0.0:0.0:1.0:0.0	.	85;85;85	Q49A92;Q49A92-3;Q49A92-5	CH034_HUMAN;.;.	N	171;85;85;85;60	ENSP00000427820:D171N;ENSP00000438159:D85N;ENSP00000337174:D60N	.	D	+	1	0	C8orf34	69521153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.345000	0.97053	2.865000	0.98341	0.655000	0.94253	GAT	-	C8orf34	-	NULL		0.338	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		0	0		74	74		0.00		G	NM_052958		69358599	+1	16		47		tier1	no_errors	ENST00000518698	ensembl	human	known	74_37	missense	25.40		SNP	1.000	A	16	47
NPTXR	23467	genome.wustl.edu	37	22	39219093	39219093	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:39219093C>T	ENST00000333039.2	-	4	1396	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	425	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CTTACCTGCTCCTGGCCCAAG	0.592													ENSG00000221890																									Pancreas(139;2521 3281 36965)												0													66.0	58.0	61.0					22																	39219093		2203	4300	6503	SO:0001583	missense	0			-	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1273G>A	22.37:g.39219093C>T	ENSP00000327545:p.Glu425Lys			Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.E425K	ENST00000333039.2	37	c.1273	CCDS33647.1	22	.	.	.	.	.	.	.	.	.	.	c	32	5.115083	0.94339	.	.	ENSG00000221890	ENST00000333039	T	0.10005	2.92	3.98	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.058198	0.64402	D	0.000003	T	0.44095	0.1277	M	0.93720	3.45	0.38891	D	0.957115	D	0.76494	0.999	D	0.83275	0.996	T	0.65627	-0.6122	9	0.87932	D	0	-43.2745	16.6227	0.84934	0.0:1.0:0.0:0.0	.	425	O95502	NPTXR_HUMAN	K	425	ENSP00000327545:E425K	ENSP00000327545:E425K	E	-	1	0	NPTXR	37549039	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.642000	0.83385	2.204000	0.70986	0.558000	0.71614	GAG	-	NPTXR	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.592	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2	0	0		29	29		0.00		C	NM_014293		39219093	-1	10		31		tier1	no_errors	ENST00000333039	ensembl	human	known	74_37	missense	24.39		SNP	1.000	T	10	31
NENF	29937	genome.wustl.edu	37	1	212617712	212617712	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:212617712C>T	ENST00000366988.3	+	3	327	c.270C>T	c.(268-270)gcC>gcT	p.A90A	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	90	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		CCTACAATGCCTTGACGGGGA	0.512													ENSG00000117691																																					0													85.0	76.0	79.0					1																	212617712		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"""neudesin"""	611874	"""neuron derived neurotrophic factor"""			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.270C>T	1.37:g.212617712C>T			A1KYQ8|Q53FZ6|Q5TM90	Silent	SNP	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	p.A90	ENST00000366988.3	37	c.270	CCDS1505.1	1																																																																																			-	NENF	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd		0.512	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NENF	HGNC	protein_coding	OTTHUMT00000089291.1	0	0		77	77		0.00		C	NM_013349		212617712	+1	46		51		tier1	no_errors	ENST00000366988	ensembl	human	known	74_37	silent	47.42		SNP	0.999	T	46	51
CSMD3	114788	genome.wustl.edu	37	8	113323300	113323300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113323300G>A	ENST00000297405.5	-	50	8036	c.7792C>T	c.(7792-7794)Cga>Tga	p.R2598*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2558*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2494*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2528*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2598	Sushi 14. {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						CGGAATCCTCGATCACAGGCC	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			ENSG00000164796																																					0													163.0	132.0	143.0					8																	113323300		2203	4300	6503	SO:0001587	stop_gained	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.7792C>T	8.37:g.113323300G>A	ENSP00000297405:p.Arg2598*		Q96PZ3	Nonsense_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.R2598*	ENST00000297405.5	37	c.7792	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	49	15.612859	0.99839	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6956	0.77494	0.0:0.0:0.8619:0.1381	.	.	.	.	X	2558;2598;1868;2494;2528	.	ENSP00000297405:R2598X	R	-	1	2	CSMD3	113392476	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.769000	0.47654	1.316000	0.45131	0.655000	0.94253	CGA	-	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.493	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	0	0		60	60		0.00		G	NM_052900		113323300	-1	45		46		tier1	no_errors	ENST00000297405	ensembl	human	known	74_37	nonsense	48.39		SNP	1.000	A	45	46
ZNF311	282890	genome.wustl.edu	37	6	28966513	28966513	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:28966513G>A	ENST00000377179.3	-	6	925	c.413C>T	c.(412-414)cCa>cTa	p.P138L	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	138					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(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTACTCACCTGGGTAGGAGCA	0.488													ENSG00000197935																																					0													114.0	111.0	112.0					6																	28966513		1510	2708	4218	SO:0001583	missense	0			-	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.413C>T	6.37:g.28966513G>A	ENSP00000366384:p.Pro138Leu		A2BFK5|B0S7Y4|Q92971	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.P138L	ENST00000377179.3	37	c.413	CCDS34357.1	6	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207618	0.39003	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.05649	3.41	3.73	3.73	0.42828	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.42767	D	0.993825	D	0.54047	0.964	P	0.55785	0.784	T	0.60326	-0.7285	9	0.30854	T	0.27	-0.6899	13.842	0.63444	0.0:0.0:1.0:0.0	.	138	Q5JNZ3	ZN311_HUMAN	L	138;46	ENSP00000366384:P138L	ENSP00000366384:P138L	P	-	2	0	ZNF311	29074492	0.994000	0.37717	0.969000	0.41365	0.556000	0.35491	1.990000	0.40717	2.001000	0.58596	0.591000	0.81541	CCA	-	ZNF311	-	NULL		0.488	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF311	HGNC	protein_coding	OTTHUMT00000076631.3	0	0		45	45		0.00		G	XM_212581		28966513	-1	16		52		tier1	no_errors	ENST00000377179	ensembl	human	known	74_37	missense	23.53		SNP	0.997	A	16	52
TTN	7273	genome.wustl.edu	37	2	179466063	179466063	+	Missense_Mutation	SNP	C	C	T	rs202126861		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179466063C>T	ENST00000591111.1	-	237	50962	c.50738G>A	c.(50737-50739)cGa>cAa	p.R16913Q	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9614Q|TTN_ENST00000460472.2_Missense_Mutation_p.R9489Q|TTN_ENST00000589042.1_Missense_Mutation_p.R18554Q|TTN_ENST00000342992.6_Missense_Mutation_p.R15986Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9681Q			Q8WZ42	TITIN_HUMAN	titin	16913	Fibronectin type-III 22. {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)			GTTTTCTGCTCGCACACGGAA	0.428													ENSG00000155657	C|||	1	0.000199681	0.0	0.0	5008	,	,		18020	0.001		0.0	False		,,,				2504	0.0																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3799		0,1,1899	99.0	94.0	96.0		28466,47957,28841,29042	5.8	1.0	2		96	0,8236		0,0,4118	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,1,6017	TT,TC,CC		0.0,0.0263,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9489/26927,15986/33424,9614/27052,9681/27119	179466063	1,12035	1900	4118	6018	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.50738G>A	2.37:g.179466063C>T	ENSP00000465570:p.Arg16913Gln		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.R15986Q	ENST00000591111.1	37	c.47957		2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945576	0.53079	2.63E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67841	0.2936	M	0.62723	1.935	0.39293	D	0.964772	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.62560	0.904;0.904;0.904;0.904	T	0.71642	-0.4531	9	0.87932	D	0	.	15.6205	0.76802	0.0:0.8632:0.1368:0.0	.	9489;9614;9681;16913	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15986;9489;9681;9614;9489	ENSP00000343764:R15986Q;ENSP00000434586:R9489Q;ENSP00000340554:R9681Q;ENSP00000352154:R9614Q	ENSP00000340554:R9681Q	R	-	2	0	TTN	179174308	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.953000	0.56699	2.770000	0.95276	0.563000	0.77884	CGA	rs202126861	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		42	42		0.00		C	NM_133378		179466063	-1	8		39		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	17.02		SNP	1.000	T	8	39
OR10A5	144124	genome.wustl.edu	37	11	6867796	6867796	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6867796A>T	ENST00000299454.4	+	1	914	c.883A>T	c.(883-885)Aat>Tat	p.N295Y	OR10A5_ENST00000379831.2_Missense_Mutation_p.N299Y			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	295					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCTTGAGAAATAGCGAGGT	0.433													ENSG00000166363																									Pancreas(44;21 1072 25662 28041 45559)												0													97.0	98.0	98.0					11																	6867796		2201	4296	6497	SO:0001583	missense	0			-	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.883A>T	11.37:g.6867796A>T	ENSP00000299454:p.Asn295Tyr		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N299Y	ENST00000299454.4	37	c.895	CCDS7773.1	11	.	.	.	.	.	.	.	.	.	.	.	13.45	2.239981	0.39598	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.50001	0.76;0.76	3.59	3.59	0.41128	.	0.000000	0.64402	D	0.000006	T	0.67998	0.2953	M	0.85099	2.735	0.31018	N	0.71845	D	0.89917	1.0	D	0.70227	0.968	T	0.72374	-0.4313	10	0.87932	D	0	.	10.7772	0.46356	1.0:0.0:0.0:0.0	.	295	Q9H207	O10A5_HUMAN	Y	295;299	ENSP00000299454:N295Y;ENSP00000369159:N299Y	ENSP00000299454:N295Y	N	+	1	0	OR10A5	6824372	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	4.464000	0.60134	1.839000	0.53478	0.482000	0.46254	AAT	-	OR10A5	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.433	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1	0	0		59	59		0.00		A	NM_178168		6867796	+1	24		43		tier1	no_errors	ENST00000379831	ensembl	human	known	74_37	missense	35.82		SNP	0.998	T	24	43
CFTR	1080	genome.wustl.edu	37	7	117304782	117304782	+	Missense_Mutation	SNP	T	T	A	rs397508658		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:117304782T>A	ENST00000003084.6	+	25	4136	c.4004T>A	c.(4003-4005)cTt>cAt	p.L1335H	CFTR_ENST00000454343.1_Missense_Mutation_p.L1274H	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1335	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)	CCTGGGAAGCTTGACTTTGTC	0.468									Cystic Fibrosis				ENSG00000001626																																					0			GRCh37	CM972964	CFTR	M							211.0	178.0	189.0					7																	117304782		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.4004T>A	7.37:g.117304782T>A	ENSP00000003084:p.Leu1335His		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.L1335H	ENST00000003084.6	37	c.4004	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601906	0.87055	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91631	-2.88;-2.88;-2.88	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	-17.771	16.1485	0.81594	0.0:0.0:0.0:1.0	.	1335	P13569	CFTR_HUMAN	H	1335;1274;1305	ENSP00000003084:L1335H;ENSP00000403677:L1274H;ENSP00000389119:L1305H	ENSP00000003084:L1335H	L	+	2	0	CFTR	117092018	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.563000	0.82314	2.281000	0.76405	0.533000	0.62120	CTT	-	CFTR	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel		0.468	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	0	0		45	45		0.00		T	NM_000492		117304782	+1	20		61		tier1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	24.69		SNP	1.000	A	20	61
GDF5	8200	genome.wustl.edu	37	20	34025453	34025453	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34025453G>A	ENST00000374372.1	-	3	759	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	GDF5_ENST00000374369.3_Silent_p.L86L			P43026	GDF5_HUMAN	growth differentiation factor 5	86					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGCTGTGTCAGGCCTCCTGTC	0.652													ENSG00000125965																																					0													44.0	44.0	44.0					20																	34025453		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.256C>T	20.37:g.34025453G>A			E1P5Q2|Q96SB1	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.L86	ENST00000374372.1	37	c.256	CCDS13254.1	20																																																																																			-	GDF5	-	NULL		0.652	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	0	0		16	16		0.00		G			34025453	-1	15		38		tier1	no_errors	ENST00000374369	ensembl	human	known	74_37	silent	28.30		SNP	1.000	A	15	38
SLC22A9	114571	genome.wustl.edu	37	11	63137867	63137867	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:63137867G>A	ENST00000279178.3	+	1	588	c.339G>A	c.(337-339)atG>atA	p.M113I	SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	113					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACGCAGACATGGAGCCCTGTG	0.522													ENSG00000149742																																					0													126.0	105.0	112.0					11																	63137867		2201	4298	6499	SO:0001583	missense	0			-	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.339G>A	11.37:g.63137867G>A	ENSP00000279178:p.Met113Ile		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M113I	ENST00000279178.3	37	c.339	CCDS8043.1	11	.	.	.	.	.	.	.	.	.	.	g	4.916	0.170169	0.09339	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.62639	0.57;0.01	3.3	-3.6	0.04570	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.397771	0.26265	N	0.025364	T	0.31389	0.0795	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14839	-1.0458	10	0.56958	D	0.05	.	10.4064	0.44260	0.7628:0.0:0.2372:0.0	.	113	Q8IVM8	S22A9_HUMAN	I	113	ENSP00000311527:M113I;ENSP00000279178:M113I	ENSP00000279178:M113I	M	+	3	0	SLC22A9	62894443	0.000000	0.05858	0.572000	0.28498	0.107000	0.19398	-3.863000	0.00347	-0.924000	0.03780	0.134000	0.15878	ATG	-	SLC22A9	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.522	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1	0	0		80	80		0.00		G	NM_080866		63137867	+1	20		104		tier1	no_errors	ENST00000279178	ensembl	human	known	74_37	missense	16.13		SNP	0.017	A	20	104
ARSJ	79642	genome.wustl.edu	37	4	114899666	114899666	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:114899666C>T	ENST00000315366.7	-	1	1191	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	ARSJ_ENST00000541197.1_Missense_Mutation_p.E109K|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	109					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTAACTCCTTCGGCAGCGAGC	0.428													ENSG00000180801																																					0													95.0	94.0	95.0					4																	114899666		1926	4130	6056	SO:0001583	missense	0			-		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.325G>A	4.37:g.114899666C>T	ENSP00000320219:p.Glu109Lys		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E109K	ENST00000315366.7	37	c.325	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964216	0.34659	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.97161	-4.27;-4.27	4.34	3.45	0.39498	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.146702	0.45126	D	0.000385	D	0.95095	0.8411	L	0.56124	1.755	0.24495	N	0.994288	B;P	0.37985	0.279;0.613	B;B	0.38458	0.093;0.274	D	0.90694	0.4615	10	0.42905	T	0.14	.	14.2925	0.66289	0.0:0.8363:0.1637:0.0	.	109;109	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	K	109	ENSP00000320219:E109K;ENSP00000438836:E109K	ENSP00000320219:E109K	E	-	1	0	ARSJ	115119115	0.720000	0.27996	0.910000	0.35882	0.986000	0.74619	1.372000	0.34261	2.228000	0.72767	0.655000	0.94253	GAA	-	ARSJ	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.428	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	0	0		70	70		0.00		C	NM_024590		114899666	-1	30		48		tier1	no_errors	ENST00000315366	ensembl	human	known	74_37	missense	38.46		SNP	0.353	T	30	48
PYGO2	90780	genome.wustl.edu	37	1	154932276	154932276	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154932276G>A	ENST00000368457.2	-	3	371	c.200C>T	c.(199-201)cCc>cTc	p.P67L	PYGO2_ENST00000483463.1_5'UTR|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_Missense_Mutation_p.P30L	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	67	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATCCACCATGGGAGTTGGGGG	0.552													ENSG00000163348																									NSCLC(87;357 1460 1955 21029 23522)												0													44.0	46.0	45.0					1																	154932276		2203	4300	6503	SO:0001583	missense	0			-	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.200C>T	1.37:g.154932276G>A	ENSP00000357442:p.Pro67Leu		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P67L	ENST00000368457.2	37	c.200	CCDS1075.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393229	0.83011	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.65364	-0.15;-0.08	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70037	-0.4982	10	0.87932	D	0	-4.5553	16.9037	0.86120	0.0:0.0:1.0:0.0	.	67	Q9BRQ0	PYGO2_HUMAN	L	67;30	ENSP00000357442:P67L;ENSP00000357441:P30L	ENSP00000357441:P30L	P	-	2	0	PYGO2	153198900	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.546000	0.98097	2.521000	0.84997	0.455000	0.32223	CCC	-	PYGO2	-	NULL		0.552	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGO2	HGNC	protein_coding	OTTHUMT00000090949.1	0	0		58	58		0.00		G	NM_138300		154932276	-1	37		65		tier1	no_errors	ENST00000368457	ensembl	human	known	74_37	missense	36.27		SNP	1.000	A	37	65
TBX21	30009	genome.wustl.edu	37	17	45819979	45819979	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:45819979G>A	ENST00000177694.1	+	2	706	c.495G>A	c.(493-495)cgG>cgA	p.R165R		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	165					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTCCAGGCGGATGTTCCCAT	0.602													ENSG00000073861																																					0													65.0	54.0	58.0					17																	45819979		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.495G>A	17.37:g.45819979G>A				Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R165	ENST00000177694.1	37	c.495	CCDS11514.1	17																																																																																			-	TBX21	-	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.602	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX21	HGNC	protein_coding	OTTHUMT00000441365.1	0	0		27	27		0.00		G	NM_013351		45819979	+1	14		36		tier1	no_errors	ENST00000177694	ensembl	human	known	74_37	silent	28.00		SNP	1.000	A	14	36
ITGB2	3689	genome.wustl.edu	37	21	46330403	46330403	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:46330403G>A	ENST00000397850.2	-	4	511				ITGB2_ENST00000302347.5_Intron|ITGB2_ENST00000397852.1_Intron|ITGB2_ENST00000355153.4_Intron|ITGB2_ENST00000397846.3_Intron|ITGB2_ENST00000397857.1_Intron|ITGB2_ENST00000523126.1_5'UTR|ITGB2_ENST00000397854.3_Intron			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CAGCCTCCAGGAGGAGACCCC	0.662													ENSG00000160255																																					0																																										SO:0001627	intron_variant	0			-	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.59-116C>T	21.37:g.46330403G>A			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	R	SNP	-	NULL	ENST00000397850.2	37	NULL	CCDS13716.1	21																																																																																			-	ITGB2	-	-		0.662	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	0	0		44	44		0.00		G	NM_000211		46330403	-1	18		36		tier1	no_errors	ENST00000523126	ensembl	human	putative	74_37	rna	33.33		SNP	0.001	A	18	36
ASXL3	80816	genome.wustl.edu	37	18	31320396	31320396	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:31320396C>G	ENST00000269197.5	+	11	3028	c.3028C>G	c.(3028-3030)Ccc>Gcc	p.P1010A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1010					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCAAGGGTTCCCCCTCTCAA	0.413													ENSG00000141431																																					0													23.0	23.0	23.0					18																	31320396		1817	4075	5892	SO:0001583	missense	0			-	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3028C>G	18.37:g.31320396C>G	ENSP00000269197:p.Pro1010Ala		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.P1010A	ENST00000269197.5	37	c.3028	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786061	0.70337	.	.	ENSG00000141431	ENST00000269197	T	0.51574	0.7	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.70404	0.3220	M	0.72353	2.195	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.71237	-0.4652	10	0.66056	D	0.02	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	1010	Q9C0F0	ASXL3_HUMAN	A	1010	ENSP00000269197:P1010A	ENSP00000269197:P1010A	P	+	1	0	ASXL3	29574394	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.769000	0.74985	2.718000	0.92993	0.655000	0.94253	CCC	-	ASXL3	-	NULL		0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	0	0		75	75		0.00		C			31320396	+1	20		66		tier1	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	23.26		SNP	1.000	G	20	66
CCER1	196477	genome.wustl.edu	37	12	91348286	91348286	+	Silent	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:91348286T>C	ENST00000358859.2	-	1	667	c.234A>G	c.(232-234)caA>caG	p.Q78Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	78																	ACACGGGTGGTTGGAACCAAA	0.627													ENSG00000197651																																					0													38.0	42.0	41.0					12																	91348286		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.234A>G	12.37:g.91348286T>C			Q8TC47	Silent	SNP	NULL	p.Q78	ENST00000358859.2	37	c.234	CCDS9036.1	12																																																																																			-	CCER1	-	NULL		0.627	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	0	0		30	30		0.00		T	NM_152638		91348286	-1	18		28		tier1	no_errors	ENST00000358859	ensembl	human	known	74_37	silent	39.13		SNP	0.009	C	18	28
STXBP5L	9515	genome.wustl.edu	37	3	120840490	120840490	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:120840490C>T	ENST00000273666.6	+	7	879	c.608C>T	c.(607-609)tCc>tTc	p.S203F	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S203F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S203F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S203F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S203F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	203					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTAACAGATCCACTAAGACT	0.303													ENSG00000145087																																					0													133.0	122.0	125.0					3																	120840490		1833	4073	5906	SO:0001583	missense	0			-	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.608C>T	3.37:g.120840490C>T	ENSP00000273666:p.Ser203Phe		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.S203F	ENST00000273666.6	37	c.608	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844775	0.91197	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.40225	1.73;1.78;1.54;1.04;1.78;1.78	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.055638	0.85682	D	0.000000	T	0.61763	0.2373	M	0.84511	2.7	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.55087	0.768;0.768	T	0.59369	-0.7467	10	0.11794	T	0.64	-8.2186	19.925	0.97099	0.0:1.0:0.0:0.0	.	203;203	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	F	203	ENSP00000273666:S203F;ENSP00000420019:S203F;ENSP00000419627:S203F;ENSP00000420287:S203F;ENSP00000420666:S203F;ENSP00000420167:S203F	ENSP00000273666:S203F	S	+	2	0	STXBP5L	122323180	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.238000	0.78173	2.810000	0.96702	0.585000	0.79938	TCC	-	STXBP5L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.303	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	0	0		53	53		0.00		C			120840490	+1	23		48		tier1	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	32.39		SNP	1.000	T	23	48
SLCO1B7	338821	genome.wustl.edu	37	12	21196418	21196418	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:21196418C>T	ENST00000421593.2	+	6	737	c.737C>T	c.(736-738)tCa>tTa	p.S246L	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S293L|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.S293L	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGGAAAGTTTCACTATTTTTG	0.308													ENSG00000205754																																					0													77.0	79.0	78.0					12																	21196418		2200	4298	6498	SO:0001583	missense	0			-	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.737C>T	12.37:g.21196418C>T	ENSP00000394168:p.Ser246Leu		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S293L	ENST00000421593.2	37	c.878	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	9.220	1.033176	0.19590	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80033	-1.33;-1.33;1.01	3.17	1.15	0.20763	.	2.343100	0.01556	N	0.019916	T	0.78553	0.4301	M	0.62266	1.93	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.17722	0.019;0.012	T	0.54603	-0.8269	10	0.40728	T	0.16	.	6.2819	0.21011	0.0:0.726:0.0:0.274	.	246;293	G3V0H7;F5H094	.;.	L	293;293;246	ENSP00000370952:S293L;ENSP00000452013:S293L;ENSP00000394168:S246L	ENSP00000370952:S293L	S	+	2	0	SLCO1B7;RP11-545J16.1	21087685	0.971000	0.33674	0.002000	0.10522	0.156000	0.22039	2.570000	0.45981	0.131000	0.18576	0.305000	0.20034	TCA	-	SLCO1B7	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	0	0		87	87		0.00		C	NM_001009562		21196418	+1	13		64		tier1	no_errors	ENST00000554957	ensembl	human	known	74_37	missense	16.88		SNP	0.002	T	13	64
PHF3	23469	genome.wustl.edu	37	6	64408446	64408446	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:64408446A>G	ENST00000262043.3	+	8	3273	c.2933A>G	c.(2932-2934)aAg>aGg	p.K978R	PHF3_ENST00000393387.1_Missense_Mutation_p.K978R			Q92576	PHF3_HUMAN	PHD finger protein 3	978	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCTAAATATAAGAACAAATAT	0.323													ENSG00000118482																									GBM(135;136 1820 29512 34071 46235)												0													37.0	45.0	42.0					6																	64408446		2196	4291	6487	SO:0001583	missense	0			-	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2933A>G	6.37:g.64408446A>G	ENSP00000262043:p.Lys978Arg		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.K978R	ENST00000262043.3	37	c.2933	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696123	0.68386	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.49	5.49	0.81192	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.41605	D	0.000849	T	0.54319	0.1851	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.56074	-0.8039	10	0.49607	T	0.09	-17.1035	15.8791	0.79189	1.0:0.0:0.0:0.0	.	978	Q92576	PHF3_HUMAN	R	792;247;978;978	ENSP00000424694:K792R;ENSP00000425338:K247R;ENSP00000262043:K978R;ENSP00000377048:K978R	ENSP00000262043:K978R	K	+	2	0	PHF3	64466405	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.229000	0.95273	2.213000	0.71641	0.397000	0.26171	AAG	-	PHF3	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M		0.323	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	0	0		106	106		0.00		A			64408446	+1	47		65		tier1	no_errors	ENST00000262043	ensembl	human	known	74_37	missense	41.96		SNP	1.000	G	47	65
GPR124	25960	genome.wustl.edu	37	8	37687454	37687454	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:37687454G>A	ENST00000412232.2	+	6	653	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	GPR124_ENST00000315215.7_Missense_Mutation_p.E214K	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	214	LRRCT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCAGCTGTCGGAACACACGCT	0.672													ENSG00000020181																																					0													43.0	39.0	40.0					8																	37687454		2203	4300	6503	SO:0001583	missense	0			-	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.640G>A	8.37:g.37687454G>A	ENSP00000406367:p.Glu214Lys		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.E214K	ENST00000412232.2	37	c.640	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040612	0.75732	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	D;D;D	0.90004	-2.6;-2.6;-2.6	5.21	5.21	0.72293	Cysteine-rich flanking region, C-terminal (1);	0.367657	0.28109	N	0.016576	D	0.92404	0.7589	M	0.69358	2.11	0.52099	D	0.999944	D;P	0.60575	0.988;0.919	P;B	0.58210	0.835;0.395	D	0.90812	0.4702	10	0.29301	T	0.29	-19.7982	18.7518	0.91819	0.0:0.0:1.0:0.0	.	214;214	Q96PE1-2;Q96PE1	.;GP124_HUMAN	K	172;207;214;214	ENSP00000400860:E172K;ENSP00000323508:E214K;ENSP00000406367:E214K	ENSP00000323508:E214K	E	+	1	0	GPR124	37806612	1.000000	0.71417	0.882000	0.34594	0.532000	0.34746	7.746000	0.85057	2.434000	0.82447	0.462000	0.41574	GAA	-	GPR124	-	smart_Cys-rich_flank_reg_C		0.672	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	0	0		18	18		0.00		G			37687454	+1	7		26		tier1	no_errors	ENST00000412232	ensembl	human	known	74_37	missense	21.21		SNP	0.994	A	7	26
ARHGAP15	55843	genome.wustl.edu	37	2	144525590	144525590	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:144525590C>T	ENST00000295095.6	+	14	1444	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	426	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AACCTCATGTCCACGCAAAGC	0.448													ENSG00000075884																																					0													125.0	123.0	124.0					2																	144525590		2203	4300	6503	SO:0001583	missense	0			-	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1277C>T	2.37:g.144525590C>T	ENSP00000295095:p.Ser426Phe		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S426F	ENST00000295095.6	37	c.1277	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273603	0.80580	.	.	ENSG00000075884	ENST00000295095	T	0.13089	2.62	5.73	5.73	0.89815	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	H	0.94847	3.59	0.54753	D	0.999981	D	0.56287	0.975	D	0.65573	0.936	T	0.63269	-0.6675	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	426	Q53QZ3	RHG15_HUMAN	F	426	ENSP00000295095:S426F	ENSP00000295095:S426F	S	+	2	0	ARHGAP15	144242060	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	TCC	-	ARHGAP15	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.448	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	0	0		45	45		0.00		C	NM_018460		144525590	+1	25		27		tier1	no_errors	ENST00000295095	ensembl	human	known	74_37	missense	48.08		SNP	1.000	T	25	27
YIF1A	10897	genome.wustl.edu	37	11	66055073	66055073	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:66055073G>C	ENST00000376901.4	-	4	607	c.423C>G	c.(421-423)atC>atG	p.I141M	YIF1A_ENST00000471387.2_De_novo_Start_InFrame|YIF1A_ENST00000359461.6_Missense_Mutation_p.I141M|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	141					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						ACTCACTGGGGATATAGAGGT	0.632													ENSG00000174851																																					0													23.0	24.0	24.0					11																	66055073		2200	4294	6494	SO:0001583	missense	0			-	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.423C>G	11.37:g.66055073G>C	ENSP00000366098:p.Ile141Met		A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	pfam_Hrf1,pfam_Yip1	p.I141M	ENST00000376901.4	37	c.423	CCDS8132.1	11	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931838	0.52866	.	.	ENSG00000174851	ENST00000359461;ENST00000376901;ENST00000376904;ENST00000431556;ENST00000528575	T;T;T;T	0.67523	-0.15;-0.04;-0.16;-0.27	4.67	1.77	0.24775	.	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.81302	-0.0994	10	0.59425	D	0.04	-0.0095	7.0347	0.24987	0.3766:0.0:0.6234:0.0	.	141;141	E9PIZ0;O95070	.;YIF1A_HUMAN	M	141;141;145;141;141	ENSP00000352437:I141M;ENSP00000366098:I141M;ENSP00000401953:I141M;ENSP00000431935:I141M	ENSP00000352437:I141M	I	-	3	3	YIF1A	65811649	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	0.217000	0.17603	0.169000	0.19679	0.462000	0.41574	ATC	-	YIF1A	-	pfam_Hrf1,pfam_Yip1		0.632	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	HGNC	protein_coding	OTTHUMT00000219903.3	0	0		69	69		0.00		G	NM_020470		66055073	-1	36		65		tier1	no_errors	ENST00000376901	ensembl	human	known	74_37	missense	35.64		SNP	1.000	C	36	65
CLEC16A	23274	genome.wustl.edu	37	16	11272360	11272360	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:11272360C>T	ENST00000409790.1	+	24	3205	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	CLEC16A_ENST00000381822.2_Missense_Mutation_p.S79F	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCACCATTTCCCTGCTCTGC	0.672													ENSG00000038532																																					1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											58.0	69.0	65.0					16																	11272360		2156	4248	6404	SO:0001583	missense	0			-	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2975C>T	16.37:g.11272360C>T	ENSP00000387122:p.Ser992Phe			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.S992F	ENST00000409790.1	37	c.2975	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237763	0.79800	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.57907	0.37	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	L	0.27053	0.805	0.42787	D	0.993888	D;D	0.76494	0.999;0.99	D;D	0.83275	0.996;0.974	T	0.66131	-0.6000	10	0.87932	D	0	-21.4982	15.032	0.71713	0.0:1.0:0.0:0.0	.	79;992	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	F	992;992;79	ENSP00000387122:S992F	ENSP00000371244:S79F	S	+	2	0	CLEC16A	11179861	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.480000	0.66820	2.304000	0.77564	0.655000	0.94253	TCC	-	CLEC16A	-	NULL		0.672	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	0	0		58	58		0.00		C	NM_015226		11272360	+1	19		46		tier1	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	29.23		SNP	1.000	T	19	46
KDM4B	23030	genome.wustl.edu	37	19	5144825	5144825	+	Missense_Mutation	SNP	C	C	T	rs267605545		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5144825C>T	ENST00000159111.4	+	21	3151	c.2933C>T	c.(2932-2934)tCc>tTc	p.S978F	KDM4B_ENST00000536461.1_Missense_Mutation_p.S1012F	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	978	Tudor 2.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.S978F(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGACCCCCTTCCGAGGGGGAG	0.622													ENSG00000127663																																					2	Substitution - Missense(2)	lung(1)|skin(1)											61.0	58.0	59.0					19																	5144825		2203	4300	6503	SO:0001583	missense	0			-	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2933C>T	19.37:g.5144825C>T	ENSP00000159111:p.Ser978Phe		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S978F	ENST00000159111.4	37	c.2933	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009226	0.19277	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.47177	0.85;0.85	4.53	3.45	0.39498	Tudor domain (1);	0.459239	0.23142	N	0.051445	T	0.34745	0.0908	L	0.40543	1.245	0.09310	N	1	B;B	0.32467	0.372;0.128	B;B	0.24269	0.052;0.021	T	0.27365	-1.0076	10	0.66056	D	0.02	-10.4725	9.5946	0.39567	0.0:0.7759:0.143:0.0811	.	1012;978	F5GX28;O94953	.;KDM4B_HUMAN	F	978;1012	ENSP00000159111:S978F;ENSP00000440495:S1012F	ENSP00000159111:S978F	S	+	2	0	KDM4B	5095825	0.007000	0.16637	0.320000	0.25306	0.361000	0.29550	2.325000	0.43840	0.843000	0.35070	0.491000	0.48974	TCC	-	KDM4B	-	smart_Tudor		0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	0	0		105	105		0.00		C	NM_015015		5144825	+1	16		102		tier1	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	13.56		SNP	0.079	T	16	102
NFASC	23114	genome.wustl.edu	37	1	204991701	204991701	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:204991701C>T	ENST00000401399.1	+	0	9956				NFASC_ENST00000339876.6_3'UTR|NFASC_ENST00000367171.4_3'UTR|NFASC_ENST00000338515.6_3'UTR|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_3'UTR|NFASC_ENST00000367169.4_3'UTR|NFASC_ENST00000338586.6_3'UTR|NFASC_ENST00000367172.4_3'UTR|NFASC_ENST00000539706.1_3'UTR|NFASC_ENST00000367170.4_3'UTR			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATGTTCTTTCCTTTTTTGCGA	0.423													ENSG00000163531																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.*6034C>T	1.37:g.204991701C>T			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	R	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			-	NFASC	-	-		0.423	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	0	0		40	40		0.00		C	NM_001005388		204991701	+1	13		35		tier1	no_errors	ENST00000495396	ensembl	human	known	74_37	rna	27.08		SNP	0.013	T	13	35
GRPR	2925	genome.wustl.edu	37	X	16168572	16168572	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:16168572G>A	ENST00000380289.2	+	2	956	c.558G>A	c.(556-558)gaG>gaA	p.E186E	RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	186					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCTTCCATGAGGAAAGCACCA	0.507													ENSG00000126010																																					0													217.0	166.0	183.0					X																	16168572		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.558G>A	X.37:g.16168572G>A			B2R910	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E186	ENST00000380289.2	37	c.558	CCDS14174.1	X																																																																																			-	GRPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_pep_rcpt		0.507	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	0	0		39	39		0.00		G	NM_005314		16168572	+1	29		10		tier1	no_errors	ENST00000380289	ensembl	human	known	74_37	silent	74.36		SNP	0.657	A	29	10
TNIP1	10318	genome.wustl.edu	37	5	150413231	150413231	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:150413231G>A	ENST00000389378.2	-	16	2305	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S	TNIP1_ENST00000523338.1_Missense_Mutation_p.P573S|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000520931.1_Missense_Mutation_p.P520S|TNIP1_ENST00000518977.1_Missense_Mutation_p.P573S|TNIP1_ENST00000523200.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.P573S|TNIP1_ENST00000521591.1_Missense_Mutation_p.P573S|TNIP1_ENST00000315050.7_Missense_Mutation_p.P573S|TNIP1_ENST00000524280.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	573	Pro-rich.|Required for inhibitory activity of TNF- induced NF-kappa-B activation. {ECO:0000250}.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGGAGGGGGGTAGCGGATC	0.662													ENSG00000145901																																					0													38.0	43.0	41.0					5																	150413231		2202	4299	6501	SO:0001583	missense	0			-	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1717C>T	5.37:g.150413231G>A	ENSP00000374029:p.Pro573Ser		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P573S	ENST00000389378.2	37	c.1717	CCDS34280.1	5	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349944	0.41599	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977	T;T;T;T;T;T;T	0.17213	2.29;2.35;2.35;2.32;2.35;2.35;2.32	5.06	4.18	0.49190	.	0.189178	0.46442	N	0.000299	T	0.12944	0.0314	L	0.41824	1.3	0.44024	D	0.996745	B;P;P	0.41450	0.319;0.75;0.513	B;B;B	0.37091	0.187;0.241;0.241	T	0.02115	-1.1211	10	0.48119	T	0.1	-13.7901	8.5075	0.33197	0.1701:0.0:0.8299:0.0	.	573;573;573	B7Z8K2;A4F1W9;Q15025	.;.;TNIP1_HUMAN	S	520;573;573;573;535;573;573;573	ENSP00000429891:P520S;ENSP00000374029:P573S;ENSP00000317891:P573S;ENSP00000428243:P573S;ENSP00000428187:P573S;ENSP00000430760:P573S;ENSP00000430971:P573S	ENSP00000317891:P573S	P	-	1	0	TNIP1	150393424	1.000000	0.71417	0.993000	0.49108	0.705000	0.40729	3.727000	0.54984	2.330000	0.79161	0.557000	0.71058	CCC	-	TNIP1	-	NULL		0.662	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1	0	0		25	25		0.00		G	NM_006058		150413231	-1	22		29		tier1	no_errors	ENST00000315050	ensembl	human	known	74_37	missense	43.14		SNP	0.996	A	22	29
FAAH	2166	genome.wustl.edu	37	1	46879243	46879243	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:46879243C>T	ENST00000243167.8	+	15	1820	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	579					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AAGCAGTCATCCTGATGGCTC	0.607													ENSG00000117480																																					0													141.0	98.0	112.0					1																	46879243		2203	4300	6503	SO:0001583	missense	0			-	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1736C>T	1.37:g.46879243C>T	ENSP00000243167:p.Ser579Phe		D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun	p.S579F	ENST00000243167.8	37	c.1736	CCDS535.1	1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027535	0.54683	.	.	ENSG00000117480	ENST00000243167	T	0.64618	-0.11	5.22	1.77	0.24775	.	1.345030	0.04742	N	0.422982	T	0.56396	0.1982	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	P	0.53401	0.725	T	0.48163	-0.9059	10	0.87932	D	0	-7.2076	3.3527	0.07158	0.1665:0.5623:0.1625:0.1087	.	579	O00519	FAAH1_HUMAN	F	579	ENSP00000243167:S579F	ENSP00000243167:S579F	S	+	2	0	FAAH	46651830	.	.	0.035000	0.18076	0.079000	0.17450	.	.	0.544000	0.28883	0.655000	0.94253	TCC	-	FAAH	-	NULL		0.607	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH	HGNC	protein_coding	OTTHUMT00000021443.1	0	0		40	40		0.00		C	NM_001441		46879243	+1	14		45		tier1	no_errors	ENST00000243167	ensembl	human	known	74_37	missense	23.73		SNP	0.008	T	14	45
ZNF230	7773	genome.wustl.edu	37	19	44512953	44512953	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44512953C>T	ENST00000429154.2	+	3	255	c.27C>T	c.(25-27)acC>acT	p.T9T	ZNF230_ENST00000585632.1_Silent_p.T9T	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	9	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)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGGCAGTGACCTTCAAGGATG	0.522													ENSG00000159882																									GBM(175;914 2069 22996 47111 52600)												0													271.0	239.0	250.0					19																	44512953		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.27C>T	19.37:g.44512953C>T			O15322|Q504X7|Q86W84|Q9P1U6	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.T9	ENST00000429154.2	37	c.27	CCDS33044.1	19																																																																																			-	ZNF230	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.522	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	HGNC	protein_coding	OTTHUMT00000460456.1	0	0		108	108		0.00		C			44512953	+1	27		77		tier1	no_errors	ENST00000429154	ensembl	human	known	74_37	silent	25.71		SNP	0.567	T	27	77
LRP12	29967	genome.wustl.edu	37	8	105509592	105509592	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:105509592A>C	ENST00000276654.5	-	5	1296	c.1188T>G	c.(1186-1188)gaT>gaG	p.D396E	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.D377E	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	396	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			GCCAATACCCATCACAACGCT	0.463													ENSG00000147650																																					0													116.0	107.0	110.0					8																	105509592		2203	4300	6503	SO:0001583	missense	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.1188T>G	8.37:g.105509592A>C	ENSP00000276654:p.Asp396Glu		A8K137|B4DRQ2	Missense_Mutation	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.D377E	ENST00000276654.5	37	c.1131	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761633	0.69763	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.72615	-0.67;-0.67	5.66	-4.56	0.03431	.	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.88310	2.945	0.80722	D	1	P;P	0.48162	0.906;0.849	P;B	0.45881	0.496;0.301	T	0.72484	-0.4279	10	0.87932	D	0	-29.6372	8.4607	0.32925	0.4619:0.0:0.434:0.1041	.	377;396	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	377;396	ENSP00000399148:D377E;ENSP00000276654:D396E	ENSP00000276654:D396E	D	-	3	2	LRP12	105578768	0.643000	0.27269	0.332000	0.25469	0.943000	0.58893	-0.002000	0.12924	-1.150000	0.02840	-0.475000	0.04921	GAT	-	LRP12	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt		0.463	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	0	0		45	45		0.00		A	NM_013437		105509592	-1	7		35		tier1	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	16.67		SNP	0.913	C	7	35
PCDHA11	56138	genome.wustl.edu	37	5	140250272	140250272	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140250272G>A	ENST00000398640.2	+	1	1584	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGGAGCTGCTACAGT	0.682													ENSG00000249158																																					0													64.0	71.0	69.0					5																	140250272		2200	4297	6497	SO:0001819	synonymous_variant	0			-	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1584G>A	5.37:g.140250272G>A			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E528	ENST00000398640.2	37	c.1584	CCDS47284.1	5																																																																																			-	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	0	0		89	89		0.00		G	NM_018902		140250272	+1	47		97		tier1	no_errors	ENST00000398640	ensembl	human	known	74_37	silent	32.41		SNP	0.989	A	47	97
NGRN	51335	genome.wustl.edu	37	15	90820841	90820842	+	RNA	INS	-	-	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:90820841_90820842insA	ENST00000411845.2	+	0	2576																											TTCTAAACTTGAAAAAAaaaaa	0.381													ENSG00000228998																																					0																																												0																																15.37:g.90820852_90820852dupA				R	INS	-	NULL	ENST00000411845.2	37	NULL		15																																																																																				RP11-697E2.7	-	-		0.381	RP11-697E2.7-001	KNOWN	basic	processed_transcript	ENSG00000228998	Clone_based_vega_gene	pseudogene	OTTHUMT00000435856.1	0	0		25	25		0.00		-			90820842	+1	2		22		tier1	no_errors	ENST00000411845	ensembl	human	known	74_37	rna	8.33		INS	0.000:0.003	A	2	22
F5	2153	genome.wustl.edu	37	1	169541485	169541485	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:169541485C>T	ENST00000367797.3	-	3	548	c.347G>A	c.(346-348)gGa>gAa	p.G116E	F5_ENST00000546081.1_5'UTR|F5_ENST00000367796.3_Missense_Mutation_p.G116E	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	116	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTACCTAATTCCTTGAGGATG	0.338													ENSG00000198734																																					0													61.0	63.0	62.0					1																	169541485		2202	4300	6502	SO:0001583	missense	0			-	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.347G>A	1.37:g.169541485C>T	ENSP00000356771:p.Gly116Glu		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.G116E	ENST00000367797.3	37	c.347	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255385	0.80135	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99962	-9.41;-9.41	5.35	5.35	0.76521	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97152	0.9832	10	0.87932	D	0	-17.1823	16.5806	0.84714	0.0:1.0:0.0:0.0	.	116	P12259	FA5_HUMAN	E	116	ENSP00000356771:G116E;ENSP00000356770:G116E	ENSP00000356770:G116E	G	-	2	0	F5	167808109	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.812000	0.62613	2.506000	0.84524	0.563000	0.77884	GGA	-	F5	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.338	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	0	0		71	71		0.00		C	NM_000130		169541485	-1	29		87		tier1	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	25.00		SNP	1.000	T	29	87
CD34	947	genome.wustl.edu	37	1	208062945	208062945	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:208062945C>T	ENST00000310833.7	-	5	940	c.619G>A	c.(619-621)Gga>Aga	p.G207R	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.G207R|CD34_ENST00000367036.3_Missense_Mutation_p.G49R|CD34_ENST00000537704.1_Missense_Mutation_p.G72R	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	207					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						AGGCCCTCTCCCCTGTCCTTC	0.577													ENSG00000174059																																					0													75.0	74.0	74.0					1																	208062945		2203	4300	6503	SO:0001583	missense	0			-	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.619G>A	1.37:g.208062945C>T	ENSP00000310036:p.Gly207Arg		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.G207R	ENST00000310833.7	37	c.619	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375508	0.42105	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.22539	2.44;2.44;1.95;2.44	5.38	5.38	0.77491	.	0.451539	0.24191	N	0.040719	T	0.42988	0.1227	M	0.61703	1.905	0.19945	N	0.999947	D;D;D;D	0.89917	0.993;1.0;0.997;0.993	D;D;D;D	0.68943	0.919;0.961;0.96;0.919	T	0.27365	-1.0076	10	0.72032	D	0.01	-1.9379	14.6516	0.68800	0.0:1.0:0.0:0.0	.	72;207;207;49	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	R	207;207;49;72;177	ENSP00000310036:G207R;ENSP00000348916:G207R;ENSP00000356003:G49R;ENSP00000442874:G72R	ENSP00000310036:G207R	G	-	1	0	CD34	206129568	0.041000	0.20044	0.012000	0.15200	0.009000	0.06853	3.464000	0.53057	2.520000	0.84964	0.650000	0.86243	GGA	-	CD34	-	pfam_CD34/Podocalyxin		0.577	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	0	0		55	55		0.00		C	NM_001773		208062945	-1	27		48		tier1	no_errors	ENST00000310833	ensembl	human	known	74_37	missense	36.00		SNP	0.029	T	27	48
PHLDB2	90102	genome.wustl.edu	37	3	111604149	111604149	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:111604149C>A	ENST00000431670.2	+	2	1636	c.1225C>A	c.(1225-1227)Ctt>Att	p.L409I	PHLDB2_ENST00000393925.3_Missense_Mutation_p.L409I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L409I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L409I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L436I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.L409I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.L409I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	409						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCAGCCTGCCCTTCGGGAACG	0.522													ENSG00000144824																																					0													64.0	69.0	68.0					3																	111604149		2203	4300	6503	SO:0001583	missense	0			-		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1225C>A	3.37:g.111604149C>A	ENSP00000405405:p.Leu409Ile		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L409I	ENST00000431670.2	37	c.1225	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803852	0.50315	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.33654	1.4;1.42;1.41;1.41;1.42;1.41	5.78	4.9	0.64082	.	0.274213	0.34725	N	0.003734	T	0.28167	0.0695	L	0.50333	1.59	0.09310	N	0.999992	B;B;P;B;B	0.37731	0.003;0.051;0.607;0.021;0.021	B;B;B;B;B	0.30782	0.002;0.025;0.12;0.037;0.037	T	0.21759	-1.0236	10	0.37606	T	0.19	.	9.7355	0.40386	0.1401:0.7857:0.0:0.0742	.	409;409;409;409;436	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	436;436;409;409;409;409;409;409;409	ENSP00000377500:L436I;ENSP00000405405:L409I;ENSP00000405292:L409I;ENSP00000418296:L409I;ENSP00000377502:L409I;ENSP00000418319:L409I	ENSP00000352764:L436I	L	+	1	0	PHLDB2	113086839	0.020000	0.18652	0.820000	0.32676	0.992000	0.81027	0.954000	0.29175	1.584000	0.49913	0.655000	0.94253	CTT	-	PHLDB2	-	NULL		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	0	0		43	43		0.00		C	NM_145753		111604149	+1	13		23		tier1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	36.11		SNP	0.256	A	13	23
DNASE1L2	1775	genome.wustl.edu	37	16	2287478	2287478	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2287478G>A	ENST00000564065.1	+	4	1420	c.419G>A	c.(418-420)gGt>gAt	p.G140D	RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000382437.4_Splice_Site|DNASE1L2_ENST00000320700.5_Missense_Mutation_p.G140D|DNASE1L2_ENST00000567494.1_Missense_Mutation_p.G140D			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	140					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						CCCGGCACCGGTGAGCGGGCC	0.711													ENSG00000167968																																					0													10.0	12.0	11.0					16																	2287478		1795	4031	5826	SO:0001583	missense	0			-	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.419G>A	16.37:g.2287478G>A	ENSP00000454562:p.Gly140Asp		E9PBY4|Q6JVM2|Q6JVM3	Splice_Site	SNP	-	e4+1	ENST00000564065.1	37	c.418+1	CCDS42105.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.102|8.102	0.776897|0.776897	0.16120|0.16120	.|.	.|.	ENSG00000167968|ENSG00000167968	ENST00000382437|ENST00000541838;ENST00000320700	.|T	.|0.81078	.|-1.45	3.95|3.95	3.95|3.95	0.45737|0.45737	.|Endonuclease/exonuclease/phosphatase (2);	.|.	.|.	.|.	.|.	.|T	.|0.74053	.|0.3666	N|N	0.03608|0.03608	-0.345|-0.345	0.27483|0.27483	N|N	0.952501|0.952501	.|D	.|0.71674	.|0.998	.|D	.|0.66196	.|0.942	.|T	.|0.64368	.|-0.6424	.|9	.|0.10902	.|T	.|0.67	.|-1.1372	14.7293|14.7293	0.69368|0.69368	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|140	.|Q92874	.|DNSL2_HUMAN	.|D	-1|140	.|ENSP00000316938:G140D	.|ENSP00000316938:G140D	.|G	+|+	.|2	.|0	DNASE1L2|DNASE1L2	2227479|2227479	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.323000|0.323000	0.28346|0.28346	5.661000|5.661000	0.68025|0.68025	2.020000|2.020000	0.59435|0.59435	0.492000|0.492000	0.49549|0.49549	.|GGT	-	DSE1L2	-	-		0.711	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	DSE1L2	HGNC	protein_coding	OTTHUMT00000435236.1	0	0		11	11		0.00		G	NM_001374		2287478	+1	6		11		tier1	no_errors	ENST00000382437	ensembl	human	novel	74_37	splice_site	35.29		SNP	0.970	A	6	11
XIRP2	129446	genome.wustl.edu	37	2	168103768	168103768	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168103768T>A	ENST00000409195.1	+	9	5955	c.5866T>A	c.(5866-5868)Tcc>Acc	p.S1956T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1956T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1734T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1781					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGGCAGGATCCTCGGGAGA	0.423													ENSG00000163092																																					0													46.0	43.0	44.0					2																	168103768		1872	4110	5982	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	ENST00000409195.1:c.5866T>A	2.37:g.168103768T>A	ENSP00000386840:p.Ser1956Thr		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.S1956T	ENST00000409195.1	37	c.5866	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	T	2.089	-0.408888	0.04799	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02631	4.22;4.22;4.23	5.76	3.4	0.38934	.	1.038110	0.07517	N	0.909986	T	0.03477	0.0100	L	0.56769	1.78	0.09310	N	1	P;P;B	0.41848	0.651;0.763;0.225	B;B;B	0.31101	0.058;0.124;0.049	T	0.46414	-0.9193	10	0.40728	T	0.16	5.7882	5.9104	0.19025	0.2591:0.0:0.294:0.4469	.	1781;1781;1734	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1956;1956;1734	ENSP00000386840:S1956T;ENSP00000295237:S1956T;ENSP00000387255:S1734T	ENSP00000295237:S1956T	S	+	1	0	XIRP2	167812014	0.977000	0.34250	0.002000	0.10522	0.005000	0.04900	2.471000	0.45127	0.457000	0.26962	0.528000	0.53228	TCC	-	XIRP2	-	NULL		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	0	0		21	21		0.00		T	NM_152381		168103768	+1	6		13		tier1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	31.58		SNP	0.005	A	6	13
LLGL2	3993	genome.wustl.edu	37	17	73559835	73559835	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:73559835C>A	ENST00000392550.3	+	9	946	c.829C>A	c.(829-831)Ccc>Acc	p.P277T	LLGL2_ENST00000577200.1_Missense_Mutation_p.P277T|LLGL2_ENST00000578363.1_Missense_Mutation_p.P277T|LLGL2_ENST00000167462.5_Missense_Mutation_p.P277T|LLGL2_ENST00000375227.4_Missense_Mutation_p.P277T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	277					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTTTCAGGTCCCTTTCCTTG	0.532													ENSG00000073350																																					0													148.0	121.0	130.0					17																	73559835		2203	4300	6503	SO:0001583	missense	0			-	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.829C>A	17.37:g.73559835C>A	ENSP00000376333:p.Pro277Thr		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.P277T	ENST00000392550.3	37	c.829	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281986	0.40394	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.36878	3.25;3.37;1.23	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.252999	0.46758	D	0.000266	T	0.61689	0.2367	M	0.74467	2.265	0.58432	D	0.999999	P;P;D;D;D	0.67145	0.72;0.673;0.996;0.973;0.99	B;B;D;D;P	0.68039	0.434;0.307;0.954;0.955;0.897	T	0.64647	-0.6358	10	0.87932	D	0	-19.3239	19.2022	0.93715	0.0:1.0:0.0:0.0	.	266;266;277;277;277	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	T	277;277;277;266	ENSP00000167462:P277T;ENSP00000376333:P277T;ENSP00000364375:P277T	ENSP00000167462:P277T	P	+	1	0	LLGL2	71071430	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.638000	0.54332	2.712000	0.92718	0.561000	0.74099	CCC	-	LLGL2	-	pfam_LLGL2,superfamily_WD40_repeat_dom		0.532	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	0	0		50	50		0.00		C	NM_004524		73559835	+1	23		47		tier1	no_errors	ENST00000392550	ensembl	human	known	74_37	missense	32.86		SNP	1.000	A	23	47
FAM47B	170062	genome.wustl.edu	37	X	34961452	34961452	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:34961452C>T	ENST00000329357.5	+	1	540	c.504C>T	c.(502-504)gcC>gcT	p.A168A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	168										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTTGTGAGGCCCGGGAGAAGA	0.597													ENSG00000189132																																					0													39.0	37.0	37.0					X																	34961452		2202	4300	6502	SO:0001819	synonymous_variant	0			-	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.504C>T	X.37:g.34961452C>T			Q5JQN5|Q6PIG3	Silent	SNP	NULL	p.A168	ENST00000329357.5	37	c.504	CCDS14236.1	X																																																																																			-	FAM47B	-	NULL		0.597	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	0	0		49	49		0.00		C	NM_152631		34961452	+1	41		66		tier1	no_errors	ENST00000329357	ensembl	human	known	74_37	silent	38.32		SNP	0.001	T	41	66
C18orf8	29919	genome.wustl.edu	37	18	21087014	21087014	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:21087014C>T	ENST00000269221.3	+	3	370	c.260C>T	c.(259-261)aCt>aTt	p.T87I	C18orf8_ENST00000590868.1_Missense_Mutation_p.T87I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	87						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCTCAAAGACTGTGGTAAGA	0.328													ENSG00000141452																																					0													141.0	153.0	149.0					18																	21087014		2203	4300	6503	SO:0001583	missense	0			-	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.260C>T	18.37:g.21087014C>T	ENSP00000269221:p.Thr87Ile		Q9BU17|Q9Y5M0	Missense_Mutation	SNP	pfam_Mic1,superfamily_WD40_repeat_dom	p.T87I	ENST00000269221.3	37	c.260	CCDS32803.1	18	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720654	0.48728	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.13089	2.62	5.87	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.252329	0.46758	D	0.000269	T	0.12646	0.0307	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.003	T	0.09164	-1.0687	10	0.32370	T	0.25	-7.8176	6.4215	0.21746	0.129:0.6575:0.14:0.0735	.	87;87	Q96DM3;F5H2W0	MIC1_HUMAN;.	I	87	ENSP00000269221:T87I	ENSP00000269221:T87I	T	+	2	0	C18orf8	19341012	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.749000	0.55150	2.789000	0.95967	0.650000	0.86243	ACT	-	C18orf8	-	superfamily_WD40_repeat_dom		0.328	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	HGNC	protein_coding	OTTHUMT00000445386.1	0	0		113	113		0.00		C	NM_013326		21087014	+1	22		94		tier1	no_errors	ENST00000269221	ensembl	human	known	74_37	missense	18.97		SNP	1.000	T	22	94
ZAN	7455	genome.wustl.edu	37	7	100350371	100350371	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100350371C>T	ENST00000348028.3	+	0	2808				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCACCATCCCCACGGAAAAAC	0.498													ENSG00000146839																																					0													320.0	364.0	350.0					7																	100350371		1875	4103	5978			0			-	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350371C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P881	ENST00000348028.3	37	c.2643		7																																																																																			-	ZAN	-	NULL		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0		169	169		0.00		C	NM_003386		100350371	+1	63		164		tier1	no_errors	ENST00000546292	ensembl	human	known	74_37	silent	27.75		SNP	0.004	T	63	164
FREM2	341640	genome.wustl.edu	37	13	39425879	39425879	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:39425879G>A	ENST00000280481.7	+	11	7015	c.6799G>A	c.(6799-6801)Gga>Aga	p.G2267R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2267	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAAGAACCTGGAGAGTCGGT	0.423													ENSG00000150893																																					0													59.0	60.0	60.0					13																	39425879		2203	4300	6503	SO:0001583	missense	0			-	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6799G>A	13.37:g.39425879G>A	ENSP00000280481:p.Gly2267Arg		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G2267R	ENST00000280481.7	37	c.6799	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041670	0.35989	.	.	ENSG00000150893	ENST00000280481	T	0.21031	2.03	5.62	3.63	0.41609	Na-Ca exchanger/integrin-beta4 (2);	0.278909	0.37906	N	0.001887	T	0.18002	0.0432	L	0.35644	1.08	0.50039	D	0.999847	B;B	0.23591	0.088;0.029	B;B	0.31337	0.128;0.076	T	0.05289	-1.0894	10	0.44086	T	0.13	.	9.0977	0.36649	0.2612:0.0:0.7387:0.0	.	2267;2267	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	R	2267	ENSP00000280481:G2267R	ENSP00000280481:G2267R	G	+	1	0	FREM2	38323879	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	3.455000	0.52993	1.378000	0.46305	0.650000	0.86243	GGA	-	FREM2	-	pfam_Calx_beta,smart_Calx_beta		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	0	0		55	55		0.00		G	NM_207361		39425879	+1	15		43		tier1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	25.42		SNP	0.860	A	15	43
HMHA1	23526	genome.wustl.edu	37	19	1083181	1083181	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1083181G>A	ENST00000313093.2	+	21	3015	c.2784G>A	c.(2782-2784)ggG>ggA	p.G928G	HMHA1_ENST00000536472.1_Silent_p.G796G|HMHA1_ENST00000590214.1_Silent_p.G955G|HMHA1_ENST00000586866.1_Silent_p.G932G|HMHA1_ENST00000591169.1_Intron|HMHA1_ENST00000590577.1_Silent_p.G563G|HMHA1_ENST00000543365.1_Silent_p.G811G|HMHA1_ENST00000539243.2_Silent_p.G944G	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	928	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)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCCCCGGGAACCTGGGCA	0.706													ENSG00000180448																																					0													44.0	36.0	39.0					19																	1083181		2201	4299	6500	SO:0001819	synonymous_variant	0			-	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2784G>A	19.37:g.1083181G>A			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G928	ENST00000313093.2	37	c.2784	CCDS32863.1	19																																																																																			-	HMHA1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.706	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	0	0		28	28		0.00		G			1083181	+1	13		42		tier1	no_errors	ENST00000313093	ensembl	human	known	74_37	silent	23.64		SNP	0.995	A	13	42
UNC93B1	81622	genome.wustl.edu	37	11	67766791	67766791	+	Intron	SNP	G	G	A	rs367693948		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:67766791G>A	ENST00000530331.1	-	5	634				UNC93B1_ENST00000227471.2_Intron			Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											CCACAAAGGAGAGAAGGCTCT	0.642													ENSG00000110057	.|||	1	0.000199681	0.0	0.0	5008	,	,		18582	0.001		0.0	False		,,,				2504	0.0																0								G		0,4078		0,0,2039	28.0	32.0	31.0			1.0	0.0	11		31	1,8347		0,1,4173	no	intron	UNC93B1	NM_030930.2		0,1,6212	AA,AG,GG		0.012,0.0,0.0080			67766791	1,12425	2039	4174	6213	SO:0001627	intron_variant	0			-	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000530331.1:c.1682-16C>T	11.37:g.67766791G>A			O95764|Q569H6|Q710D4	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.L203	ENST00000530331.1	37	c.609		11																																																																																			-	UNC93B1	-	NULL		0.642	UNC93B1-001	KNOWN	basic	processed_transcript	UNC93B1	HGNC	protein_coding	OTTHUMT00000394726.1	0	0		42	42		0.00		G	NM_030930		67766791	-1	9		69		tier1	no_errors	ENST00000524455	ensembl	human	known	74_37	silent	11.54		SNP	0.001	A	9	69
HSPH1	10808	genome.wustl.edu	37	13	31725864	31725864	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:31725864C>T	ENST00000320027.5	-	6	889	c.545G>A	c.(544-546)gGa>gAa	p.G182E	HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380405.4_Missense_Mutation_p.G182E|HSPH1_ENST00000445273.2_Missense_Mutation_p.G184E|HSPH1_ENST00000380406.5_Missense_Mutation_p.G141E	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	182					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTTATAAATTCCGTAATTCAA	0.363													ENSG00000120694																																					0													68.0	66.0	66.0					13																	31725864		2203	4300	6503	SO:0001583	missense	0			-	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.545G>A	13.37:g.31725864C>T	ENSP00000318687:p.Gly182Glu		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.G184E	ENST00000320027.5	37	c.551	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043527	0.93685	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.62129	-0.6919	10	0.87932	D	0	-29.4283	20.4379	0.99098	0.0:1.0:0.0:0.0	.	141;184;182;182	Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;HS105_HUMAN	E	182;182;141;184;233	ENSP00000318687:G182E;ENSP00000369768:G182E;ENSP00000369769:G141E;ENSP00000396090:G184E	ENSP00000318687:G182E	G	-	2	0	HSPH1	30623864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.838000	0.97847	0.585000	0.79938	GGA	-	HSPH1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.363	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	0	0		55	55		0.00		C			31725864	-1	10		36		tier1	no_errors	ENST00000445273	ensembl	human	known	74_37	missense	21.74		SNP	1.000	T	10	36
WNK4	65266	genome.wustl.edu	37	17	40940798	40940798	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:40940798G>A	ENST00000246914.5	+	11	2161	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	714					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCCCGGAAGAGATTGCAGC	0.542													ENSG00000126562																									Esophageal Squamous(6;201 374 4964 23855 42828)												0													113.0	89.0	97.0					17																	40940798		2203	4300	6503	SO:0001583	missense	0			-	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2140G>A	17.37:g.40940798G>A	ENSP00000246914:p.Glu714Lys		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	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.E714K	ENST00000246914.5	37	c.2140	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.134599	0.94517	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.35048	1.33	4.98	4.98	0.66077	.	0.000000	0.49916	D	0.000134	T	0.56124	0.1964	M	0.64997	1.995	0.50632	D	0.99988	D;D;D;D	0.71674	0.998;0.993;0.988;0.988	D;P;P;P	0.66084	0.941;0.879;0.76;0.696	T	0.54207	-0.8328	10	0.44086	T	0.13	-20.9371	17.1747	0.86838	0.0:0.0:1.0:0.0	.	58;714;714;714	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	K	714;486;58	ENSP00000246914:E714K	ENSP00000246914:E714K	E	+	1	0	WNK4	38194324	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.598000	0.87819	0.655000	0.94253	GAG	-	WNK4	-	NULL		0.542	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	0	0		70	70		0.00		G			40940798	+1	44		58		tier1	no_errors	ENST00000246914	ensembl	human	known	74_37	missense	43.14		SNP	1.000	A	44	58
TCEAL5	340543	genome.wustl.edu	37	X	102529112	102529112	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:102529112G>A	ENST00000372680.1	-	3	674	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GTCCTTGGGGGAATCGTCCGT	0.567													ENSG00000204065																																					0													160.0	141.0	147.0					X																	102529112		2203	4300	6503	SO:0001583	missense	0			-		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.380C>T	X.37:g.102529112G>A	ENSP00000361765:p.Ser127Phe		A2RUJ4	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.S127F	ENST00000372680.1	37	c.380	CCDS35356.1	X	.	.	.	.	.	.	.	.	.	.	G	8.726	0.915459	0.17907	.	.	ENSG00000204065	ENST00000372680	T	0.12569	2.67	2.93	1.07	0.20283	.	0.198091	0.25422	N	0.030786	T	0.26048	0.0635	M	0.69823	2.125	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.08432	-1.0722	10	0.30854	T	0.27	.	3.5939	0.07998	0.1584:0.2589:0.5826:0.0	.	127	Q5H9L2	TCAL5_HUMAN	F	127	ENSP00000361765:S127F	ENSP00000361765:S127F	S	-	2	0	TCEAL5	102415768	0.997000	0.39634	0.002000	0.10522	0.263000	0.26337	1.322000	0.33689	0.159000	0.19401	0.292000	0.19580	TCC	-	TCEAL5	-	pfam_TF_A-like/BEX-like		0.567	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL5	HGNC	protein_coding	OTTHUMT00000057696.1	0	0		44	44		0.00		G	XM_291334		102529112	-1	37		15		tier1	no_errors	ENST00000372680	ensembl	human	known	74_37	missense	71.15		SNP	0.002	A	37	15
XIRP2	129446	genome.wustl.edu	37	2	168106081	168106081	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168106081C>T	ENST00000409195.1	+	9	8268	c.8179C>T	c.(8179-8181)Cac>Tac	p.H2727Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2727Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2505Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2552					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.H2727N(1)		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						TGAAACAGACCACAGCTATGA	0.363													ENSG00000163092																																					1	Substitution - Missense(1)	lung(1)											85.0	82.0	83.0					2																	168106081		1841	4086	5927	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	ENST00000409195.1:c.8179C>T	2.37:g.168106081C>T	ENSP00000386840:p.His2727Tyr		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.H2727Y	ENST00000409195.1	37	c.8179	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	3.626	-0.076445	0.07184	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02498	4.27;4.27;4.27	6.07	4.28	0.50868	.	1.304660	0.04575	N	0.393895	T	0.03871	0.0109	L	0.44542	1.39	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.44922	-0.9296	10	0.45353	T	0.12	4.1733	3.2256	0.06731	0.1452:0.5676:0.14:0.1473	.	2552;2552;2505	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2727;2727;2505;141	ENSP00000386840:H2727Y;ENSP00000295237:H2727Y;ENSP00000387255:H2505Y	ENSP00000295237:H2727Y	H	+	1	0	XIRP2	167814327	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	0.807000	0.27140	0.891000	0.36235	-0.136000	0.14681	CAC	-	XIRP2	-	NULL		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	0	0		29	29		0.00		C	NM_152381		168106081	+1	6		30		tier1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	16.67		SNP	0.000	T	6	30
SLC7A9	11136	genome.wustl.edu	37	19	33353441	33353441	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:33353441T>C	ENST00000023064.4	-	5	721	c.530A>G	c.(529-531)cAg>cGg	p.Q177R	SLC7A9_ENST00000590341.1_Missense_Mutation_p.Q177R|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Missense_Mutation_p.Q177R	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	177					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGATGTTCTGGACGTAGCT	0.587													ENSG00000021488																									GBM(181;1335 2108 9644 44178 46689)												0													79.0	68.0	72.0					19																	33353441		2203	4300	6503	SO:0001583	missense	0			-	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.530A>G	19.37:g.33353441T>C	ENSP00000023064:p.Gln177Arg		B2R9A6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.Q177R	ENST00000023064.4	37	c.530	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	T	19.03	3.747852	0.69533	.	.	ENSG00000021488	ENST00000023064	D	0.91996	-2.95	5.63	5.63	0.86233	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98660	1.0683	10	0.87932	D	0	.	16.1359	0.81487	0.0:0.0:0.0:1.0	.	177	P82251	BAT1_HUMAN	R	177	ENSP00000023064:Q177R	ENSP00000023064:Q177R	Q	-	2	0	SLC7A9	38045281	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.950000	0.87804	2.276000	0.75962	0.454000	0.30748	CAG	-	SLC7A9	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.587	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	0	0		54	54		0.00		T			33353441	-1	19		58		tier1	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	24.36		SNP	1.000	C	19	58
FAT1	2195	genome.wustl.edu	37	4	187524966	187524966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:187524966G>A	ENST00000441802.2	-	19	10923	c.10714C>T	c.(10714-10716)Cag>Tag	p.Q3572*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3572	Cadherin 33. {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						TACACGTCCTGGTCTGTGGCA	0.502										HNSCC(5;0.00058)			ENSG00000083857																									Colon(197;1040 2055 4143 4984 49344)												0													114.0	113.0	113.0					4																	187524966		2014	4184	6198	SO:0001587	stop_gained	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.10714C>T	4.37:g.187524966G>A	ENSP00000406229:p.Gln3572*			Nonsense_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.Q3572*	ENST00000441802.2	37	c.10714	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	52	18.873879	0.99911	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	18.6333	0.91369	0.0:0.0:1.0:0.0	.	.	.	.	X	3572;3574	.	ENSP00000260147:Q3574X	Q	-	1	0	FAT1	187761960	1.000000	0.71417	0.982000	0.44146	0.239000	0.25481	7.709000	0.84645	2.636000	0.89361	0.563000	0.77884	CAG	-	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	0	0		49	49		0.00		G	NM_005245		187524966	-1	20		49		tier1	no_errors	ENST00000441802	ensembl	human	known	74_37	nonsense	28.99		SNP	1.000	A	20	49
HSPG2	3339	genome.wustl.edu	37	1	22176548	22176548	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:22176548G>A	ENST00000374695.3	-	57	7511	c.7432C>T	c.(7432-7434)Ccg>Tcg	p.P2478S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2478	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCGGGCCGGGAGGCTGCCC	0.667													ENSG00000142798																																					0													94.0	109.0	104.0					1																	22176548		2203	4300	6503	SO:0001583	missense	0			-	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7432C>T	1.37:g.22176548G>A	ENSP00000363827:p.Pro2478Ser		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.P2478S	ENST00000374695.3	37	c.7432	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334600	0.60853	.	.	ENSG00000142798	ENST00000374695	T	0.64991	-0.13	5.19	5.19	0.71726	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37053	N	0.002276	T	0.71576	0.3356	L	0.52364	1.645	0.33844	D	0.631812	D;D	0.89917	0.998;1.0	D;D	0.91635	0.99;0.999	T	0.78932	-0.2009	10	0.56958	D	0.05	.	9.7894	0.40697	0.0935:0.0:0.9065:0.0	.	418;2478	Q59EG0;P98160	.;PGBM_HUMAN	S	2478	ENSP00000363827:P2478S	ENSP00000363827:P2478S	P	-	1	0	HSPG2	22049135	1.000000	0.71417	0.814000	0.32528	0.655000	0.38815	6.342000	0.72982	2.421000	0.82119	0.561000	0.74099	CCG	-	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	0	0		32	32		0.00		G	NM_005529		22176548	-1	14		33		tier1	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	29.79		SNP	0.935	A	14	33
POM121L12	285877	genome.wustl.edu	37	7	53104211	53104211	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:53104211T>A	ENST00000408890.4	+	1	863	c.847T>A	c.(847-849)Ttc>Atc	p.F283I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	283										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TAGGGTCTCCTTCGCCCTCGA	0.622													ENSG00000221900																																					0													43.0	48.0	46.0					7																	53104211		2000	4173	6173	SO:0001583	missense	0			-		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.847T>A	7.37:g.53104211T>A	ENSP00000386133:p.Phe283Ile		Q8NDI9	Missense_Mutation	SNP	NULL	p.F283I	ENST00000408890.4	37	c.847	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	T	11.60	1.686496	0.29962	.	.	ENSG00000221900	ENST00000408890	T	0.24350	1.86	2.16	-0.422	0.12329	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	P	0.37101	0.582	B	0.30316	0.114	T	0.19418	-1.0306	9	0.87932	D	0	.	1.8415	0.03150	0.2745:0.1705:0.0:0.555	.	283	Q8N7R1	P1L12_HUMAN	I	283	ENSP00000386133:F283I	ENSP00000386133:F283I	F	+	1	0	POM121L12	53071705	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.568000	0.02144	-0.089000	0.12484	0.459000	0.35465	TTC	-	POM121L12	-	NULL		0.622	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	0	0		30	30		0.00		T	NM_182595		53104211	+1	10		31		tier1	no_errors	ENST00000408890	ensembl	human	known	74_37	missense	23.81		SNP	0.000	A	10	31
ALDH2	217	genome.wustl.edu	37	12	112247357	112247357	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:112247357A>C	ENST00000261733.2	+	13	1593	c.1532A>C	c.(1531-1533)aAa>aCa	p.K511T	ALDH2_ENST00000416293.3_Missense_Mutation_p.K464T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	511					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	GTCACAGTCAAAGTGCCTCAG	0.473			T	HMGA2	leiomyoma								ENSG00000111275																												Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0													99.0	88.0	92.0					12																	112247357		2203	4300	6503	SO:0001583	missense	0			-	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.1532A>C	12.37:g.112247357A>C	ENSP00000261733:p.Lys511Thr		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K511T	ENST00000261733.2	37	c.1532	CCDS9155.1	12	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934343	0.52866	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.16457	2.34;2.34	5.96	2.4	0.29515	Aldehyde/histidinol dehydrogenase (1);	0.134192	0.64402	D	0.000003	T	0.12263	0.0298	L	0.31371	0.925	0.44694	D	0.997681	B;P;B	0.45957	0.229;0.869;0.194	B;B;B	0.40134	0.128;0.32;0.208	T	0.03473	-1.1033	10	0.87932	D	0	.	9.5787	0.39475	0.8103:0.0:0.1897:0.0	.	464;435;511	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	T	464;511;435;371	ENSP00000403349:K464T;ENSP00000261733:K511T	ENSP00000261733:K511T	K	+	2	0	ALDH2	110731740	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	3.227000	0.51262	0.174000	0.19809	0.533000	0.62120	AAA	-	ALDH2	-	superfamily_Ald_DH/histidinol_DH		0.473	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	HGNC	protein_coding	OTTHUMT00000405008.1	0	0		37	37		0.00		A	NM_000690		112247357	+1	11		35		tier1	no_errors	ENST00000261733	ensembl	human	known	74_37	missense	23.91		SNP	1.000	C	11	35
MTRR	4552	genome.wustl.edu	37	5	7892992	7892992	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:7892992C>T	ENST00000264668.2	+	11	1634	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	MTRR_ENST00000440940.2_Missense_Mutation_p.S508F	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	535	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|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)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATACATGCATCCCATGAAGAC	0.448													ENSG00000124275																																					0													103.0	86.0	92.0					5																	7892992		2203	4300	6503	SO:0001583	missense	0			-	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1604C>T	5.37:g.7892992C>T	ENSP00000264668:p.Ser535Phe		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.S535F	ENST00000264668.2	37	c.1604	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523678	0.27299	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.02525	4.26;4.27	4.75	1.66	0.24008	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	1.671310	0.02780	N	0.120751	T	0.03390	0.0098	L	0.59436	1.845	0.09310	N	1	P	0.42735	0.788	B	0.31245	0.126	T	0.41805	-0.9488	10	0.59425	D	0.04	-0.2195	1.2934	0.02065	0.2957:0.3879:0.1439:0.1724	.	535	Q9UBK8	MTRR_HUMAN	F	535;508	ENSP00000264668:S535F;ENSP00000402510:S508F	ENSP00000264668:S535F	S	+	2	0	MTRR	7945992	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.067000	0.11579	0.489000	0.27749	0.655000	0.94253	TCC	-	MTRR	-	superfamily_Riboflavin_synthase-like_b-brl		0.448	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	HGNC	protein_coding	OTTHUMT00000206931.1	0	0		44	44		0.00		C			7892992	+1	29		35		tier1	no_errors	ENST00000264668	ensembl	human	known	74_37	missense	45.31		SNP	0.000	T	29	35
TET3	200424	genome.wustl.edu	37	2	74326476	74326476	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:74326476C>T	ENST00000409262.3	+	8	2936	c.2936C>T	c.(2935-2937)cCc>cTc	p.P979L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	979					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATGTTCTCCCCCTGTACAAG	0.602													ENSG00000187605																																					0													56.0	65.0	62.0					2																	74326476		2109	4228	6337	SO:0001583	missense	0			-		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2936C>T	2.37:g.74326476C>T	ENSP00000386869:p.Pro979Leu		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.P979L	ENST00000409262.3	37	c.2936	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168147	0.78339	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.15603	2.41	5.06	3.26	0.37387	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37478	-0.9704	10	0.87932	D	0	.	10.5337	0.44992	0.0:0.8395:0.0:0.1605	.	979	O43151	TET3_HUMAN	L	979	ENSP00000386869:P979L	ENSP00000233310:P979L	P	+	2	0	TET3	74179984	1.000000	0.71417	0.774000	0.31636	0.985000	0.73830	7.651000	0.83577	0.717000	0.32145	0.655000	0.94253	CCC	-	TET3	-	NULL		0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	0	0		30	30		0.00		C			74326476	+1	8		29		tier1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	21.05		SNP	0.999	T	8	29
PEG3	5178	genome.wustl.edu	37	19	57335673	57335673	+	Silent	SNP	G	G	T	rs527606019		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57335673G>T	ENST00000326441.9	-	4	714	c.351C>A	c.(349-351)ctC>ctA	p.L117L	ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR|PEG3_ENST00000423103.2_Silent_p.L117L|ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000593931.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|PEG3_ENST00000594706.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	117	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCAGAGTGACGAGCTTCTCAC	0.547													ENSG00000198300																																					0													111.0	100.0	104.0					19																	57335673		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.351C>A	19.37:g.57335673G>T			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L117	ENST00000326441.9	37	c.351	CCDS12948.1	19																																																																																			-	PEG3	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.547	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	0	0		42	42		0.00		G			57335673	-1	19		55		tier1	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	25.33		SNP	0.007	T	19	55
PIK3R1	5295	genome.wustl.edu	37	5	67590975	67590975	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:67590975G>A	ENST00000521381.1	+	13	2184		c.e13-1		PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTTGCCTGCAGGATTATGCAT	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			ENSG00000145675																												Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											69.0	71.0	71.0					5																	67590975		2203	4300	6503	SO:0001630	splice_region_variant	0			-	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1569-1G>A	5.37:g.67590975G>A			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	SNP	-	e12-1	ENST00000521381.1	37	c.1569-1	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284567	0.80803	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9011	0.92443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R1	67626731	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	9.601000	0.98297	2.773000	0.95371	0.585000	0.79938	.	-	PIK3R1	-	-		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	0	0		63	63		0.00		G	NM_181504	Intron	67590975	+1	33		49		tier1	no_errors	ENST00000396611	ensembl	human	known	74_37	splice_site	40.24		SNP	1.000	A	33	49
RPSA	3921	genome.wustl.edu	37	3	39449826	39449826	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:39449826G>A	ENST00000301821.6	+	3	242				SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000443003.1_Intron|SNORA6_ENST00000384033.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AACCAATGATGGAATAAGTAC	0.418													ENSG00000168028																																					0																																										SO:0001627	intron_variant	0			-	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"""laminin receptor 1 (67kD, ribosomal protein SA)"""	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.134-271G>A	3.37:g.39449826G>A				R	SNP	-	NULL	ENST00000301821.6	37	NULL	CCDS2686.1	3																																																																																			-	RPSA	-	-		0.418	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RPSA	HGNC	protein_coding	OTTHUMT00000254064.3	0	0		22	22		0.00		G	NM_002295		39449826	+1	9		27		tier1	no_errors	ENST00000490490	ensembl	human	known	74_37	rna	25.00		SNP	0.011	A	9	27
SVEP1	79987	genome.wustl.edu	37	9	113244718	113244718	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113244718C>T	ENST00000401783.2	-	11	2429	c.2093G>A	c.(2092-2094)gGg>gAg	p.G698E	SVEP1_ENST00000374469.1_Missense_Mutation_p.G675E|SVEP1_ENST00000374461.1_Missense_Mutation_p.G675E|SVEP1_ENST00000302728.8_Missense_Mutation_p.G698E|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	698	HYR 2. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATAGTCTCCCCTTGAGGGAA	0.428													ENSG00000165124																																					0													107.0	98.0	101.0					9																	113244718		1901	4135	6036	SO:0001583	missense	0			-	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2093G>A	9.37:g.113244718C>T	ENSP00000384917:p.Gly698Glu		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.G698E	ENST00000401783.2	37	c.2093	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934891	0.92458	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.83	5.83	0.93111	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.90542	3.125	0.50313	D	0.999864	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.77073	-0.2723	10	0.42905	T	0.14	.	20.1316	0.98000	0.0:1.0:0.0:0.0	.	698;698;698	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	E	698;675;698;675	ENSP00000384917:G698E;ENSP00000363593:G675E;ENSP00000304118:G698E;ENSP00000363585:G675E	ENSP00000304118:G698E	G	-	2	0	SVEP1	112284539	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	6.489000	0.73641	2.766000	0.95052	0.650000	0.86243	GGG	-	SVEP1	-	pfam_Hyalin,pfscan_Hyalin		0.428	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		0	0		49	49		0.00		C			113244718	-1	30		63		tier1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	32.26		SNP	1.000	T	30	63
TRPM4	54795	genome.wustl.edu	37	19	49674906	49674906	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49674906C>T	ENST00000252826.5	+	8	1056	c.930C>T	c.(928-930)tgC>tgT	p.C310C	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Silent_p.C27C|TRPM4_ENST00000427978.2_Silent_p.C310C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	310					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGCGGACTGCCTGGCGGAGA	0.602													ENSG00000130529																																					0													32.0	37.0	36.0					19																	49674906		2202	4299	6501	SO:0001819	synonymous_variant	0			-	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.930C>T	19.37:g.49674906C>T			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.C310	ENST00000252826.5	37	c.930	CCDS33073.1	19																																																																																			-	TRPM4	-	NULL		0.602	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	0	0		23	23		0.00		C	NM_017636		49674906	+1	18		27		tier1	no_errors	ENST00000252826	ensembl	human	known	74_37	silent	40.00		SNP	1.000	T	18	27
C17orf99	100141515	genome.wustl.edu	37	17	76160461	76160461	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:76160461G>A	ENST00000340363.5	+	4	695				C17orf99_ENST00000451352.3_3'UTR	NM_001163075.1	NP_001156547.1	Q6UX52	CQ099_HUMAN	chromosome 17 open reading frame 99							extracellular region (GO:0005576)											AGGGCCCTTGGATTTCCAGAG	0.632													ENSG00000187997																																					0													24.0	26.0	25.0					17																	76160461		692	1591	2283	SO:0001627	intron_variant	0			-	AY358510	CCDS54171.1	17q25.3	2012-10-23			ENSG00000187997	ENSG00000187997			34490	protein-coding gene	gene with protein product							Standard	NM_001163075		Approved	GLPG464, UNQ464	uc002jus.4	Q6UX52	OTTHUMG00000153871	ENST00000340363.5:c.640+16G>A	17.37:g.76160461G>A				R	SNP	-	NULL	ENST00000340363.5	37	NULL	CCDS54171.1	17	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356633	0.24598	.	.	ENSG00000187997	ENST00000451352	.	.	.	3.56	-7.11	0.01542	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.09310	N	1	P	0.38110	0.618	B	0.30646	0.118	T	0.15983	-1.0418	6	.	.	.	.	0.1533	0.00095	0.2826:0.2406:0.2328:0.2439	.	206	E7ESU9	.	E	206	.	.	G	+	2	0	C17orf99	73672056	0.000000	0.05858	0.000000	0.03702	0.241000	0.25554	0.124000	0.15728	-1.554000	0.01700	-0.514000	0.04452	GGA	-	C17orf99	-	-		0.632	C17orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf99	HGNC	protein_coding	OTTHUMT00000332775.1	0	0		23	23		0.00		G	NM_001163075		76160461	+1	4		20		tier1	no_errors	ENST00000451352	ensembl	human	known	74_37	rna	16.67		SNP	0.000	A	4	20
ADAMTS19	171019	genome.wustl.edu	37	5	128983562	128983562	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:128983562C>T	ENST00000274487.4	+	12	2104	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	653	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)		GTGCTGGGATCAGCAGTCGAG	0.517													ENSG00000145808																																					0													142.0	139.0	140.0					5																	128983562		2203	4300	6503	SO:0001819	synonymous_variant	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.1959C>T	5.37:g.128983562C>T				Silent	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.I653	ENST00000274487.4	37	c.1959	CCDS4146.1	5																																																																																			-	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS		0.517	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	0	0		46	46		0.00		C	NM_133638		128983562	+1	14		71		tier1	no_errors	ENST00000274487	ensembl	human	known	74_37	silent	16.47		SNP	1.000	T	14	71
SIPA1L1	26037	genome.wustl.edu	37	14	72152078	72152078	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:72152078G>A	ENST00000555818.1	+	10	3452		c.e10-1		SIPA1L1_ENST00000358550.2_Splice_Site|SIPA1L1_ENST00000381232.3_Splice_Site|SIPA1L1_ENST00000537413.1_Splice_Site	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCCCTAATAGGAGTTGCTCT	0.408													ENSG00000197555																																					0													174.0	172.0	173.0					14																	72152078		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3105-1G>A	14.37:g.72152078G>A			J3KP19|O95321|Q9UDU4|Q9UNU4	Splice_Site	SNP	-	e9-1	ENST00000555818.1	37	c.3105-1	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206111	0.39003	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4911	0.95050	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIPA1L1	71221831	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	8.742000	0.91588	2.670000	0.90874	0.561000	0.74099	.	-	SIPA1L1	-	-		0.408	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	0	0		117	117		0.00		G	NM_015556	Intron	72152078	+1	48		49		tier1	no_errors	ENST00000555818	ensembl	human	known	74_37	splice_site	49.48		SNP	1.000	A	48	49
PDHA2	5161	genome.wustl.edu	37	4	96762304	96762304	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:96762304G>A	ENST00000295266.4	+	1	1066	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	335					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGAATTAAAGGAAATTGGGGC	0.423													ENSG00000163114																																					0													99.0	94.0	96.0					4																	96762304		2203	4300	6503	SO:0001583	missense	0			-		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1003G>A	4.37:g.96762304G>A	ENSP00000295266:p.Glu335Lys		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.E335K	ENST00000295266.4	37	c.1003	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	5.362	0.252016	0.10185	.	.	ENSG00000163114	ENST00000295266	D	0.97328	-4.34	4.91	3.18	0.36537	Dehydrogenase, E1 component (1);	0.051493	0.85682	D	0.000000	D	0.95030	0.8391	L	0.41124	1.26	0.42157	D	0.991581	P	0.51653	0.947	P	0.51777	0.679	D	0.91696	0.5370	10	0.20519	T	0.43	-20.2207	8.5678	0.33550	0.0855:0.1548:0.7597:0.0	.	335	P29803	ODPAT_HUMAN	K	335	ENSP00000295266:E335K	ENSP00000295266:E335K	E	+	1	0	PDHA2	96981327	1.000000	0.71417	0.106000	0.21319	0.067000	0.16453	7.021000	0.76425	0.787000	0.33731	0.467000	0.42956	GAA	-	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	0	0		53	53		0.00		G			96762304	+1	19		44		tier1	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	29.69		SNP	1.000	A	19	44
PDE4DIP	9659	genome.wustl.edu	37	1	144892041	144892041	+	Intron	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:144892041T>C	ENST00000369354.3	-	22	3094				PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369351.3_3'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_3'UTR|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_3'UTR|PDE4DIP_ENST00000369356.4_Intron			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)		TGAGAAAGATTCTTGCTTTGG	0.483			T	PDGFRB	MPD								ENSG00000178104																												Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0																																										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.2904+459A>G	1.37:g.144892041T>C			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	R	SNP	-	NULL	ENST00000369354.3	37	NULL	CCDS30824.1	1																																																																																			-	PDE4DIP	-	-		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	0	0		41	41		0.00		T	NM_022359		144892041	-1	5		42		tier1	no_errors	ENST00000467859	ensembl	human	known	74_37	rna	10.64		SNP	0.000	C	5	42
XIRP2	129446	genome.wustl.edu	37	2	168105380	168105380	+	Missense_Mutation	SNP	C	C	T	rs112479318		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:168105380C>T	ENST00000409195.1	+	9	7567	c.7478C>T	c.(7477-7479)tCt>tTt	p.S2493F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2493F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2271F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2318					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACAATTATCTATTGACTCT	0.393													ENSG00000163092																																					0								C	,,,PHE/SER,PHE/SER	1,3797		0,1,1898	79.0	76.0	77.0		,,,7478,6812	5.2	0.2	2	dbSNP_132	77	0,8242		0,0,4121	no	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,155,155	0,1,6019	TT,TC,CC		0.0,0.0263,0.0083	,,,benign,benign	,,,2493/3550,2271/3328	168105380	1,12039	1899	4121	6020	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	ENST00000409195.1:c.7478C>T	2.37:g.168105380C>T	ENSP00000386840:p.Ser2493Phe		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.S2493F	ENST00000409195.1	37	c.7478	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	3.913	-0.019674	0.07634	2.63E-4	0.0	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03065	4.06;4.06;4.06	6.05	5.17	0.71159	.	0.680579	0.14813	N	0.296903	T	0.06735	0.0172	L	0.57536	1.79	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.12837	0.003;0.008;0.008	T	0.19128	-1.0315	10	0.51188	T	0.08	-3.8948	13.4141	0.60958	0.0:0.8619:0.0:0.1381	.	2318;2318;2271	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2493;2493;2271	ENSP00000386840:S2493F;ENSP00000295237:S2493F;ENSP00000387255:S2271F	ENSP00000295237:S2493F	S	+	2	0	XIRP2	167813626	0.045000	0.20229	0.237000	0.24090	0.219000	0.24729	1.559000	0.36320	0.905000	0.36596	-0.829000	0.03081	TCT	rs112479318	XIRP2	-	NULL		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	0	0		51	51		0.00		C	NM_152381		168105380	+1	24		48		tier1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	33.33		SNP	0.003	T	24	48
PAK3	5063	genome.wustl.edu	37	X	110366499	110366499	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:110366499G>A	ENST00000372010.1	+	5	610	c.168G>A	c.(166-168)ggG>ggA	p.G56G	PAK3_ENST00000262836.4_Silent_p.G56G|PAK3_ENST00000417227.1_Silent_p.G56G|PAK3_ENST00000519681.1_Silent_p.G56G|PAK3_ENST00000372007.5_Silent_p.G56G|PAK3_ENST00000518291.1_Silent_p.G56G|PAK3_ENST00000360648.4_Silent_p.G56G|PAK3_ENST00000425146.1_Silent_p.G56G|PAK3_ENST00000446737.1_Silent_p.G56G			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	56					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAGGAGGAGGGGATAAAAGTA	0.448										TSP Lung(19;0.15)			ENSG00000077264																																					0													67.0	65.0	66.0					X																	110366499		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.168G>A	X.37:g.110366499G>A			A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.G56	ENST00000372010.1	37	c.168	CCDS48153.1	X																																																																																			-	PAK3	-	NULL		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1	0	0		17	17		0.00		G	NM_002578		110366499	+1	23		13		tier1	no_errors	ENST00000360648	ensembl	human	known	74_37	silent	63.89		SNP	1.000	A	23	13
PCNXL3	399909	genome.wustl.edu	37	11	65381110	65381110	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65381110C>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000530153.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.G40S	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TTGGCATAACCCGCTGCCTTT	0.662													ENSG00000173327																																					0													49.0	44.0	45.0					11																	65381110		2201	4297	6498	SO:0001631	upstream_gene_variant	0			-	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65381110C>T	Exception_encountered		Q6MZN8	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G40S	ENST00000355703.3	37	c.118	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457776	0.26161	.	.	ENSG00000173327	ENST00000309100	T	0.73047	-0.71	4.33	3.4	0.38934	Src homology-3 domain (1);	.	.	.	.	T	0.47507	0.1449	N	0.08118	0	0.26352	N	0.97719	B	0.06786	0.001	B	0.06405	0.002	T	0.25916	-1.0118	9	0.15066	T	0.55	.	10.2482	0.43354	0.0:0.7985:0.2015:0.0	.	40	Q16584	M3K11_HUMAN	S	40	ENSP00000309597:G40S	ENSP00000309597:G40S	G	-	1	0	MAP3K11	65137686	0.997000	0.39634	0.570000	0.28473	0.484000	0.33280	3.900000	0.56295	1.154000	0.42482	0.591000	0.81541	GGT	-	MAP3K11	-	pirsf_MAPKKK9/10/11,superfamily_SH3_domain		0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390321.1	0	0		21	21		0.00		C	NM_032223		65381110	-1	16		26		tier1	no_errors	ENST00000309100	ensembl	human	known	74_37	missense	38.10		SNP	0.206	T	16	26
HINFP	25988	genome.wustl.edu	37	11	118997780	118997780	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:118997780G>A	ENST00000350777.2	+	2	189	c.126G>A	c.(124-126)caG>caA	p.Q42Q	HINFP_ENST00000527354.1_Intron|HINFP_ENST00000527410.1_Silent_p.Q42Q	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	42					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACCTGCAGCAGCACCTGCATG	0.547													ENSG00000172273																																					0													82.0	72.0	75.0					11																	118997780		2200	4295	6495	SO:0001819	synonymous_variant	0			-	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.126G>A	11.37:g.118997780G>A			B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q42	ENST00000350777.2	37	c.126	CCDS8414.1	11																																																																																			-	HINFP	-	NULL		0.547	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	HGNC	protein_coding	OTTHUMT00000388201.2	0	0		37	37		0.00		G	NM_015517		118997780	+1	4		42		tier1	no_errors	ENST00000350777	ensembl	human	known	74_37	silent	8.70		SNP	1.000	A	4	42
ZNF844	284391	genome.wustl.edu	37	19	12187617	12187617	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:12187617G>A	ENST00000439326.3	+	4	1857	c.1682G>A	c.(1681-1683)aGg>aAg	p.R561K	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	561					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(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AACCCTATAAGGAATATGGAA	0.363													ENSG00000223547																																					0													70.0	61.0	63.0					19																	12187617		692	1591	2283	SO:0001583	missense	0			-	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1682G>A	19.37:g.12187617G>A	ENSP00000392024:p.Arg561Lys		Q5JPI8	Missense_Mutation	SNP	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.R561K	ENST00000439326.3	37	c.1682	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	G	2.994	-0.207507	0.06180	.	.	ENSG00000223547	ENST00000439326	T	0.03580	3.88	2.35	-4.21	0.03812	.	.	.	.	.	T	0.02012	0.0063	L	0.31752	0.955	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.48692	-0.9013	9	0.02654	T	1	.	4.5168	0.11939	0.4396:0.0:0.4057:0.1548	.	561	Q08AG5	ZN844_HUMAN	K	561	ENSP00000392024:R561K	ENSP00000392024:R561K	R	+	2	0	ZNF844	12048617	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-2.624000	0.00876	-1.250000	0.02497	0.205000	0.17691	AGG	-	ZNF844	-	NULL		0.363	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	0	0		41	41		0.00		G			12187617	+1	23		27		tier1	no_errors	ENST00000439326	ensembl	human	known	74_37	missense	46.00		SNP	0.000	A	23	27
MAP3K19	80122	genome.wustl.edu	37	2	135744628	135744628	+	Missense_Mutation	SNP	C	C	T	rs200920212		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:135744628C>T	ENST00000375845.3	-	7	1844	c.1814G>A	c.(1813-1815)cGg>cAg	p.R605Q	MAP3K19_ENST00000392915.1_Missense_Mutation_p.R622Q|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R492Q|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	605							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTTCTGAGTCCGGTGAGTTGA	0.453													ENSG00000176601																																					0								C	,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	136.0	144.0	142.0		,1814	0.1	0.0	2		142	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,43	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,benign	,605/1329	135744628	4,13002	2203	4300	6503	SO:0001583	missense	0			-	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1814G>A	2.37:g.135744628C>T	ENSP00000365005:p.Arg605Gln		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R605Q	ENST00000375845.3	37	c.1814	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	0.474	-0.883086	0.02530	4.54E-4	2.33E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.69561	-0.41;-0.41;1.96	5.28	0.114	0.14639	.	1.335030	0.05119	N	0.490305	T	0.40862	0.1134	N	0.03608	-0.345	0.09310	N	0.999999	B;B;B	0.17852	0.014;0.024;0.008	B;B;B	0.10450	0.003;0.005;0.001	T	0.21245	-1.0251	10	0.09084	T	0.74	.	9.9729	0.41765	0.0:0.5409:0.0:0.4591	.	492;622;605	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Q	605;492;622	ENSP00000365005:R605Q;ENSP00000351140:R492Q;ENSP00000376647:R622Q	ENSP00000351140:R492Q	R	-	2	0	YSK4	135461098	0.000000	0.05858	0.001000	0.08648	0.613000	0.37349	-0.525000	0.06214	0.094000	0.17404	-0.137000	0.14449	CGG	rs200920212	MAP3K19	-	NULL		0.453	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	0	0		44	44		0.00		C	NM_025052		135744628	-1	14		39		tier1	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	26.42		SNP	0.000	T	14	39
DOCK3	1795	genome.wustl.edu	37	3	51265457	51265457	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:51265457A>G	ENST00000266037.9	+	17	1608	c.1585A>G	c.(1585-1587)Acc>Gcc	p.T529A		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	529	DHR-1.				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)		TGCATTCTCAACCCTGATGCG	0.463													ENSG00000088538																																					0													158.0	148.0	151.0					3																	51265457		2011	4189	6200	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.1585A>G	3.37:g.51265457A>G	ENSP00000266037:p.Thr529Ala		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.T529A	ENST00000266037.9	37	c.1585	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.936653	0.97122	.	.	ENSG00000088538	ENST00000266037	T	0.13420	2.59	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	N	0.08118	0	0.27677	N	0.94656	B	0.06786	0.001	B	0.04013	0.001	T	0.18272	-1.0342	10	0.56958	D	0.05	.	16.8238	0.85925	0.1298:0.8702:0.0:0.0	.	529	Q8IZD9	DOCK3_HUMAN	A	529	ENSP00000266037:T529A	ENSP00000266037:T529A	T	+	1	0	DOCK3	51240497	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.096000	0.71446	1.548000	0.49413	-0.127000	0.14921	ACC	-	DOCK3	-	NULL		0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	0	0		41	41		0.00		A	NM_004947		51265457	+1	6		41		tier1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	12.50		SNP	1.000	G	6	41
PXYLP1	92370	genome.wustl.edu	37	3	141011754	141011754	+	Missense_Mutation	SNP	C	C	T	rs114644481		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:141011754C>T	ENST00000286353.4	+	6	1287	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	ACPL2_ENST00000504264.1_Missense_Mutation_p.P367S|ACPL2_ENST00000502783.1_Missense_Mutation_p.P346S|ACPL2_ENST00000393010.2_Missense_Mutation_p.P384S|ACPL2_ENST00000508812.1_Missense_Mutation_p.P375S|ACPL2_ENST00000393007.1_Missense_Mutation_p.P368S|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		384						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CACTCTGTCACCAGTTCTCAG	0.542													ENSG00000155893																																					0													180.0	146.0	158.0					3																	141011754		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000286353.4:c.1150C>T	3.37:g.141011754C>T	ENSP00000286353:p.Pro384Ser		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.P384S	ENST00000286353.4	37	c.1150	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768113	0.69878	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.47911	-0.9080	10	0.24483	T	0.36	.	16.8613	0.86019	0.0:1.0:0.0:0.0	.	367;384	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	S	384;346;384;367;375;368;192	ENSP00000286353:P384S;ENSP00000422558:P346S;ENSP00000376733:P384S;ENSP00000426877:P367S;ENSP00000422901:P375S;ENSP00000376731:P368S	ENSP00000286353:P384S	P	+	1	0	ACPL2	142494444	1.000000	0.71417	0.157000	0.22605	0.995000	0.86356	7.464000	0.80887	2.570000	0.86706	0.655000	0.94253	CCA	-	ACPL2	-	pfam_His_Pase_superF_clade-2		0.542	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	0	0		44	44		0.00		C			141011754	+1	8		13		tier1	no_errors	ENST00000286353	ensembl	human	known	74_37	missense	38.10		SNP	0.997	T	8	13
PPP6R3	55291	genome.wustl.edu	37	11	68367956	68367956	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:68367956C>T	ENST00000393800.2	+	20	2440	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	PPP6R3_ENST00000527403.2_Missense_Mutation_p.S694F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S683F|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S497F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S649F|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S729F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S723F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S649F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S729F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S700F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	729					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCACGTCTTCCCTGAGGTGA	0.532													ENSG00000110075																																					0													125.0	106.0	112.0					11																	68367956		2200	4294	6494	SO:0001583	missense	0			-	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2186C>T	11.37:g.68367956C>T	ENSP00000377389:p.Ser729Phe		Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.S729F	ENST00000393800.2	37	c.2186	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716196	0.30413	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.56	5.56	0.83823	.	0.465647	0.21783	N	0.069169	T	0.44286	0.1286	N	0.14661	0.345	0.22081	N	0.999376	P;P;B;B;B;B;P;B	0.47409	0.895;0.454;0.001;0.001;0.001;0.0;0.852;0.001	P;B;B;B;B;B;P;B	0.53102	0.547;0.259;0.004;0.002;0.004;0.002;0.718;0.004	T	0.37842	-0.9688	10	0.39692	T	0.17	.	14.408	0.67096	0.1474:0.8526:0.0:0.0	.	412;497;649;700;723;729;729;649	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	F	729;729;497;700;683;723;729;649;649;694;436	ENSP00000377388:S729F;ENSP00000377389:S729F;ENSP00000434429:S497F;ENSP00000431415:S700F;ENSP00000265637:S683F;ENSP00000433058:S723F;ENSP00000377390:S729F;ENSP00000265636:S649F;ENSP00000437329:S649F;ENSP00000433565:S694F;ENSP00000436209:S436F	ENSP00000265636:S649F	S	+	2	0	PPP6R3	68124532	0.861000	0.29849	0.952000	0.39060	0.683000	0.39861	2.912000	0.48782	2.617000	0.88574	0.655000	0.94253	TCC	-	PPP6R3	-	NULL		0.532	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	0	0		51	51		0.00		C	NM_018312		68367956	+1	24		45		tier1	no_errors	ENST00000393799	ensembl	human	known	74_37	missense	34.78		SNP	0.320	T	24	45
RBM48	84060	genome.wustl.edu	37	7	92161864	92161864	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:92161864G>A	ENST00000265732.5	+	3	489		c.e3+1		RBM48_ENST00000481551.1_Splice_Site	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48							nucleus (GO:0005634)	RNA binding (GO:0003723)										GAAAATAAAGGTATGGAAAGC	0.408													ENSG00000127993																																					0													74.0	68.0	70.0					7																	92161864		1920	4130	6050	SO:0001630	splice_region_variant	0			-	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.448+1G>A	7.37:g.92161864G>A			B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Splice_Site	SNP	-	e3+1	ENST00000265732.5	37	c.448+1	CCDS43615.1	7	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360137	0.41801	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4468	0.90686	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf64	91999800	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	9.116000	0.94341	2.353000	0.79882	0.591000	0.81541	.	-	RBM48	-	-		0.408	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM48	HGNC	protein_coding	OTTHUMT00000356076.1	0	0		28	28		0.00		G	NM_032120	Intron	92161864	+1	16		27		tier1	no_errors	ENST00000265732	ensembl	human	known	74_37	splice_site	37.21		SNP	1.000	A	16	27
SMC4	10051	genome.wustl.edu	37	3	160135718	160135718	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:160135718C>T	ENST00000357388.3	+	11	2096	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	SMC4_ENST00000344722.5_Missense_Mutation_p.P549S|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.P524S|SMC4_ENST00000462787.1_Missense_Mutation_p.P549S|SMC4_ENST00000360111.2_Missense_Mutation_p.P549S	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	549					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGGAAAACTCCCTCAAACTGA	0.368													ENSG00000113810																																					0													46.0	47.0	46.0					3																	160135718		2203	4298	6501	SO:0001583	missense	0			-	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1645C>T	3.37:g.160135718C>T	ENSP00000349961:p.Pro549Ser		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.P549S	ENST00000357388.3	37	c.1645	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874014	0.91664	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.73	5.73	0.89815	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	L	0.39633	1.23	0.80722	D	1	D;B;D;D	0.89917	0.991;0.115;1.0;0.993	P;B;D;P	0.91635	0.833;0.173;0.999;0.863	T	0.77935	-0.2401	10	0.17369	T	0.5	-18.6751	19.9155	0.97058	0.0:1.0:0.0:0.0	.	549;524;524;549	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	S	549;549;524;549;549;143	ENSP00000349961:P549S;ENSP00000353225:P549S;ENSP00000417964:P524S;ENSP00000420734:P549S;ENSP00000341382:P549S	ENSP00000341382:P549S	P	+	1	0	SMC4	161618412	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.273000	0.78527	2.699000	0.92147	0.650000	0.86243	CCT	-	SMC4	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase		0.368	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	0	0		56	56		0.00		C			160135718	+1	21		39		tier1	no_errors	ENST00000344722	ensembl	human	known	74_37	missense	35.00		SNP	1.000	T	21	39
MASP1	5648	genome.wustl.edu	37	3	186944249	186944249	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:186944249G>A	ENST00000337774.5	-	12	1890	c.1501C>T	c.(1501-1503)Ccg>Tcg	p.P501S		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	501	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGTAGGGTCGGATCTTCCGGA	0.572													ENSG00000127241																																					0													149.0	122.0	131.0					3																	186944249		2203	4300	6503	SO:0001583	missense	0			-	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1501C>T	3.37:g.186944249G>A	ENSP00000336792:p.Pro501Ser		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P501S	ENST00000337774.5	37	c.1501	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	3.503	-0.101492	0.06967	.	.	ENSG00000127241	ENST00000337774	D	0.83591	-1.74	5.86	-1.42	0.08913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.68174	0.2972	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.50206	-0.8855	9	0.20519	T	0.43	.	6.1437	0.20273	0.4436:0.1361:0.4203:0.0	.	501	P48740	MASP1_HUMAN	S	501	ENSP00000336792:P501S	ENSP00000336792:P501S	P	-	1	0	MASP1	188426943	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.442000	0.21628	-0.104000	0.12154	0.563000	0.77884	CCG	-	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	0	0		39	39		0.00		G	NM_001879		186944249	-1	42		56		tier1	no_errors	ENST00000337774	ensembl	human	known	74_37	missense	42.86		SNP	0.000	A	42	56
C6orf195	154386	genome.wustl.edu	37	6	2623974	2623974	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:2623974C>T	ENST00000296847.3	-	3	606	c.83G>A	c.(82-84)aGg>aAg	p.R28K		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	28										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ATCAAATGCCCTTTCTCCCTC	0.577													ENSG00000164385																																					0													38.0	43.0	42.0					6																	2623974		2011	4164	6175	SO:0001583	missense	0			-	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.83G>A	6.37:g.2623974C>T	ENSP00000296847:p.Arg28Lys		Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Missense_Mutation	SNP	NULL	p.R28K	ENST00000296847.3	37	c.83	CCDS43416.1	6	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978839	0.18812	.	.	ENSG00000164385	ENST00000296847	T	0.37235	1.21	2.92	-1.06	0.10002	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.49451	0.611	T	0.06734	-1.0810	9	0.87932	D	0	.	3.3041	0.06993	0.0:0.393:0.2109:0.3961	.	28	Q96MT4	CF195_HUMAN	K	28	ENSP00000296847:R28K	ENSP00000296847:R28K	R	-	2	0	C6orf195	2568973	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-0.043000	0.12043	-0.257000	0.09459	0.591000	0.81541	AGG	-	C6orf195	-	NULL		0.577	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf195	HGNC	protein_coding	OTTHUMT00000039633.1	0	0		33	33		0.00		C	NM_152554		2623974	-1	23		20		tier1	no_errors	ENST00000296847	ensembl	human	known	74_37	missense	53.49		SNP	0.000	T	23	20
JPH3	57338	genome.wustl.edu	37	16	87734445	87734445	+	IGR	SNP	C	C	T	rs555138102		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:87734445C>T	ENST00000284262.2	+	0	3985				FLJ00104_ENST00000446344.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3						calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ggttggagggcggagggagga	0.662													ENSG00000104731																																					0																																										SO:0001628	intergenic_variant	0			-	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656		16.37:g.87734445C>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	R	SNP	-	NULL	ENST00000284262.2	37	NULL	CCDS10962.1	16																																																																																			-	KLHDC4	-	-		0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC4	HGNC	protein_coding	OTTHUMT00000269108.2	0	0		22	22		0.00		C			87734445	-1	10		17		tier1	no_errors	ENST00000568346	ensembl	human	known	74_37	rna	37.04		SNP	0.004	T	10	17
MUC16	94025	genome.wustl.edu	37	19	9072715	9072715	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9072715C>T	ENST00000397910.4	-	3	14934	c.14731G>A	c.(14731-14733)Gag>Aag	p.E4911K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4913	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						GTGCTTGTCTCTGTGGACGAG	0.507													ENSG00000181143																																					0													216.0	205.0	209.0					19																	9072715		2110	4221	6331	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.14731G>A	19.37:g.9072715C>T	ENSP00000381008:p.Glu4911Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E4911K	ENST00000397910.4	37	c.14731	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	8.315	0.822975	0.16678	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.57	-1.16	0.09678	.	.	.	.	.	T	0.02571	0.0078	L	0.43923	1.385	.	.	.	B	0.32245	0.361	B	0.31812	0.136	T	0.43393	-0.9394	8	0.87932	D	0	.	1.1656	0.01814	0.2292:0.403:0.2245:0.1432	.	4911	B5ME49	.	K	4911	ENSP00000381008:E4911K	ENSP00000381008:E4911K	E	-	1	0	MUC16	8933715	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.014000	0.12656	-0.139000	0.11414	0.298000	0.19748	GAG	-	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0		50	50		0.00		C	NM_024690		9072715	-1	28		42		tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	40.00		SNP	0.000	T	28	42
PCDHGA4	56111	genome.wustl.edu	37	5	140735371	140735371	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140735371C>T	ENST00000571252.1	+	1	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCTAGATCGCGAGGAAGA	0.557													ENSG00000262576																																					0													25.0	28.0	27.0					5																	140735371		2167	4282	6449	SO:0001583	missense	0			-	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.604C>T	5.37:g.140735371C>T	ENSP00000458570:p.Arg202Cys		Q9Y5D3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R202C	ENST00000571252.1	37	c.604	CCDS58979.1	5																																																																																			-	PCDHGA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.557	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	0	0		32	32		0.00		C	NM_018917		140735371	+1	9		48		tier1	no_errors	ENST00000571252	ensembl	human	known	74_37	missense	15.79		SNP	1.000	T	9	48
GNPAT	8443	genome.wustl.edu	37	1	231376911	231376911	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:231376911C>T	ENST00000366647.4	+	0	0				GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000366651.3_5'UTR|C1orf131_ENST00000366649.2_5'UTR|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000318906.2_5'UTR	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ACCCCCGCTTCCGGGTTCCGC	0.697													ENSG00000143633																																					0													46.0	50.0	49.0					1																	231376911		2203	4300	6503	SO:0001631	upstream_gene_variant	0			-	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231376911C>T	Exception_encountered		B4DNM9|Q5TBH7|Q9BWC2	R	SNP	-	NULL	ENST00000366647.4	37	NULL	CCDS1592.1	1																																																																																			-	C1orf131	-	-		0.697	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	0	0		55	55		0.00		C			231376911	-1	40		41		tier1	no_errors	ENST00000471936	ensembl	human	known	74_37	rna	49.38		SNP	0.954	T	40	41
KDM3A	55818	genome.wustl.edu	37	2	86693707	86693707	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:86693707C>T	ENST00000409556.1	+	11	1585	c.1220C>T	c.(1219-1221)cCa>cTa	p.P407L	KDM3A_ENST00000312912.5_Missense_Mutation_p.P407L|KDM3A_ENST00000542128.1_Missense_Mutation_p.P355L|KDM3A_ENST00000409064.1_Missense_Mutation_p.P407L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	407					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGTCTGTTCCACAAGCATTG	0.453													ENSG00000115548																									NSCLC(96;1150 1523 6936 46253 49736)												0													159.0	146.0	151.0					2																	86693707		2203	4300	6503	SO:0001583	missense	0			-	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1220C>T	2.37:g.86693707C>T	ENSP00000386660:p.Pro407Leu		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P407L	ENST00000409556.1	37	c.1220	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613183	0.28712	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.81	1.3	0.21679	.	0.582083	0.16633	N	0.205965	T	0.22322	0.0538	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10474	-1.0628	10	0.21014	T	0.42	.	3.0894	0.06289	0.1912:0.4752:0.0:0.3336	.	355;407	F5H070;Q9Y4C1	.;KDM3A_HUMAN	L	407;407;407;407;355	ENSP00000386660:P407L;ENSP00000323659:P407L;ENSP00000386516:P407L;ENSP00000438324:P355L	ENSP00000323659:P407L	P	+	2	0	KDM3A	86547218	0.005000	0.15991	0.033000	0.17914	0.953000	0.61014	0.347000	0.20014	0.799000	0.34018	0.563000	0.77884	CCA	-	KDM3A	-	NULL		0.453	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	0	0		57	57		0.00		C	NM_018433		86693707	+1	34		69		tier1	no_errors	ENST00000312912	ensembl	human	known	74_37	missense	33.01		SNP	0.000	T	34	69
ZNF155	7711	genome.wustl.edu	37	19	44501414	44501414	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:44501414T>A	ENST00000270014.2	+	5	1533	c.1405T>A	c.(1405-1407)Tca>Aca	p.S469T	RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.S480T|ZNF155_ENST00000590615.1_Missense_Mutation_p.S469T|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	469					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TAGCCGGGCCTCAAGTATTTT	0.438													ENSG00000204920																									NSCLC(61;554 1277 20909 42067 42312)												0													78.0	84.0	82.0					19																	44501414		2203	4300	6503	SO:0001583	missense	0			-	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1405T>A	19.37:g.44501414T>A	ENSP00000270014:p.Ser469Thr		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	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.S469T	ENST00000270014.2	37	c.1405	CCDS12634.1	19	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329444	0.41197	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.36340	1.26;1.26	2.79	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41789	0.1174	L	0.54323	1.7	0.09310	N	1	P;D	0.55385	0.873;0.971	B;P	0.54856	0.41;0.762	T	0.22208	-1.0223	9	0.62326	D	0.03	.	4.4838	0.11780	0.1932:0.0:0.1987:0.6082	.	480;469	B4DM95;Q12901	.;ZN155_HUMAN	T	480;469	ENSP00000385163:S480T;ENSP00000270014:S469T	ENSP00000270014:S469T	S	+	1	0	ZNF155	49193254	0.000000	0.05858	0.002000	0.10522	0.118000	0.20060	-1.923000	0.01567	0.264000	0.21851	0.379000	0.24179	TCA	-	ZNF155	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF155	HGNC	protein_coding	OTTHUMT00000460074.1	0	0		70	70		0.00		T	NM_003445		44501414	+1	14		77		tier1	no_errors	ENST00000270014	ensembl	human	known	74_37	missense	15.38		SNP	0.000	A	14	77
FAM83C	128876	genome.wustl.edu	37	20	33875114	33875114	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:33875114C>T	ENST00000374408.3	-	4	1564	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	490										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCCACTGTCTCCAGGGTTGTG	0.642													ENSG00000125998																																					0													45.0	43.0	44.0					20																	33875114		2161	4254	6415	SO:0001583	missense	0			-	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1468G>A	20.37:g.33875114C>T	ENSP00000363529:p.Glu490Lys		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	pfam_DUF1669	p.E490K	ENST00000374408.3	37	c.1468	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989574	0.35131	.	.	ENSG00000125998	ENST00000374408	T	0.09163	3.01	4.29	2.28	0.28536	.	0.943037	0.08906	N	0.876635	T	0.13798	0.0334	M	0.72353	2.195	0.29895	N	0.824844	B	0.12013	0.005	B	0.09377	0.004	T	0.16512	-1.0400	10	0.39692	T	0.17	0.9428	7.0021	0.24815	0.0:0.7277:0.1749:0.0973	.	490	Q9BQN1	FA83C_HUMAN	K	490	ENSP00000363529:E490K	ENSP00000363529:E490K	E	-	1	0	FAM83C	33338528	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	2.354000	0.44098	0.540000	0.28808	-0.258000	0.10820	GAG	-	FAM83C	-	NULL		0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	0	0		53	53		0.00		C			33875114	-1	18		53		tier1	no_errors	ENST00000374408	ensembl	human	known	74_37	missense	25.00		SNP	0.998	T	18	53
KNDC1	85442	genome.wustl.edu	37	10	135025213	135025213	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:135025213C>T	ENST00000304613.3	+	23	4108	c.4087C>T	c.(4087-4089)Ctg>Ttg	p.L1363L	KNDC1_ENST00000368572.2_Silent_p.L1365L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1363	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGCCAAGCACCTGCTGGGCCT	0.692													ENSG00000171798																																					0													45.0	44.0	45.0					10																	135025213		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4087C>T	10.37:g.135025213C>T			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L1365	ENST00000304613.3	37	c.4093	CCDS7674.1	10																																																																																			-	KNDC1	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N		0.692	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	0	0		43	43		0.00		C	NM_152643		135025213	+1	5		27		tier1	no_errors	ENST00000368572	ensembl	human	known	74_37	silent	15.62		SNP	1.000	T	5	27
LPHN3	23284	genome.wustl.edu	37	4	62929261	62929261	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:62929261C>T	ENST00000506720.1	+	24	3853	c.3853C>T	c.(3853-3855)Cgt>Tgt	p.R1285C	LPHN3_ENST00000506746.1_Missense_Mutation_p.R1276C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1285C|LPHN3_ENST00000545650.1_Intron|LPHN3_ENST00000514591.1_Intron|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1217C|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1217C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1276C|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000509896.1_Intron|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1208C|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1208C|LPHN3_ENST00000512091.2_Intron			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1181					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCTCTGCTTCGTCCGCATGG	0.453													ENSG00000150471																																					0																																										SO:0001583	missense	0			-	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000506720.1:c.3853C>T	4.37:g.62929261C>T	ENSP00000420931:p.Arg1285Cys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.R1285C	ENST00000506720.1	37	c.3853		4	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439736	0.83885	.	.	ENSG00000150471	ENST00000507164;ENST00000508693;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T	0.72942	-0.66;-0.67;-0.65;-0.66;-0.68;-0.69;-0.7;-0.69	5.67	5.67	0.87782	.	.	.	.	.	D	0.83188	0.5200	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.83588	0.0121	6	0.56958	D	0.05	.	19.7863	0.96440	0.0:1.0:0.0:0.0	.	.	.	.	C	1276;1285;1208;1217;1217;1285;1276;1208	ENSP00000421476:R1276C;ENSP00000424030:R1285C;ENSP00000425201:R1208C;ENSP00000423434:R1217C;ENSP00000421627:R1217C;ENSP00000420931:R1285C;ENSP00000425884:R1276C;ENSP00000424258:R1208C	ENSP00000423434:R1217C	R	+	1	0	LPHN3	62611856	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.665000	0.90641	0.655000	0.94253	CGT	-	LPHN3	-	pfam_GPCR_2_latrophilin_rcpt_C		0.453	LPHN3-008	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361770.1	0	0		74	74		0.00		C			62929261	+1	17		95		tier1	no_errors	ENST00000506720	ensembl	human	novel	74_37	missense	15.18		SNP	1.000	T	17	95
SNX29P2	440352	genome.wustl.edu	37	16	29323747	29323747	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:29323747C>T	ENST00000398878.3	+	0	393							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		TCATCCCCTCCGACATGCTGC	0.617													ENSG00000198106																																					0																																												0			-	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29323747C>T				R	SNP	-	NULL	ENST00000398878.3	37	NULL		16																																																																																			-	SNX29P2	-	-		0.617	SNX29P2-202	KNOWN	basic	lincRNA	SNX29P2	HGNC	lincRNA		0	0		37	37		0.00		C	NR_002939		29323747	+1	14		30		tier1	no_errors	ENST00000398878	ensembl	human	known	74_37	rna	31.82		SNP	0.999	T	14	30
PPP1R13L	10848	genome.wustl.edu	37	19	45895455	45895455	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45895455C>T	ENST00000418234.2	-	8	1576	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E500K	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	500	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GACTGTGCCTCCGGTGGCAGT	0.672													ENSG00000104881																									Pancreas(61;1447 1663 31419 50578)												0													21.0	22.0	22.0					19																	45895455		2199	4296	6495	SO:0001583	missense	0			-	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1498G>A	19.37:g.45895455C>T	ENSP00000403902:p.Glu500Lys		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.E500K	ENST00000418234.2	37	c.1498	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618161	0.66787	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58210	0.35;0.35	5.0	5.0	0.66597	.	0.065117	0.64402	D	0.000007	T	0.52677	0.1749	N	0.19112	0.55	0.43000	D	0.994517	D;D	0.61080	0.989;0.978	P;P	0.58331	0.837;0.646	T	0.54022	-0.8355	10	0.42905	T	0.14	.	14.2009	0.65705	0.0:1.0:0.0:0.0	.	500;79	Q8WUF5;A7YME7	IASPP_HUMAN;.	K	500;500;74	ENSP00000403902:E500K;ENSP00000354218:E500K	ENSP00000221478:E74K	E	-	1	0	PPP1R13L	50587295	0.993000	0.37304	0.938000	0.37757	0.906000	0.53458	3.199000	0.51043	2.492000	0.84095	0.555000	0.69702	GAG	-	PPP1R13L	-	NULL		0.672	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	0	0		52	52		0.00		C	NM_006663		45895455	-1	4		42		tier1	no_errors	ENST00000360957	ensembl	human	known	74_37	missense	8.70		SNP	0.986	T	4	42
TTN	7273	genome.wustl.edu	37	2	179615141	179615141	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179615141C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E3996K|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATAGTTTTCCAACGAATGA	0.333													ENSG00000155657																																					0													120.0	119.0	119.0					2																	179615141		2203	4299	6502	SO:0001627	intron_variant	0			-	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2709G>A	2.37:g.179615141C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E3996K	ENST00000591111.1	37	c.11986		2	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908949	0.33721	.	.	ENSG00000155657	ENST00000360870	T	0.42131	0.98	5.55	4.67	0.58626	.	.	.	.	.	T	0.38427	0.1040	L	0.56340	1.77	0.58432	D	0.999996	B	0.13145	0.007	B	0.09377	0.004	T	0.18461	-1.0336	9	0.19590	T	0.45	.	15.0877	0.72167	0.0:0.9312:0.0:0.0688	.	3996	Q8WZ42-6	.	K	3996	ENSP00000354117:E3996K	ENSP00000354117:E3996K	E	-	1	0	TTN	179323386	0.590000	0.26815	0.804000	0.32291	0.184000	0.23303	2.366000	0.44204	1.469000	0.48083	0.655000	0.94253	GAA	-	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		48	48		0.00		C	NM_133378		179615141	-1	26		35		tier1	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	41.94		SNP	0.496	T	26	35
NEK6	10783	genome.wustl.edu	37	9	127088703	127088703	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:127088703G>A	ENST00000320246.5	+	6	645	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	NEK6_ENST00000539416.1_Missense_Mutation_p.R192Q|NEK6_ENST00000540326.1_Missense_Mutation_p.R185Q|NEK6_ENST00000373600.3_Missense_Mutation_p.R201Q|NEK6_ENST00000373603.1_Missense_Mutation_p.R167Q|NEK6_ENST00000394199.2_Missense_Mutation_p.R201Q|NEK6_ENST00000545174.1_Missense_Mutation_p.R167Q|NEK6_ENST00000546191.1_Missense_Mutation_p.R167Q	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CATTCACGCCGGGTGATGCAC	0.622													ENSG00000119408																									NSCLC(122;934 1785 18647 44295 45571)												0													73.0	64.0	67.0					9																	127088703		2203	4300	6503	SO:0001583	missense	0			-	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.500G>A	9.37:g.127088703G>A	ENSP00000319734:p.Arg167Gln		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R201Q	ENST00000320246.5	37	c.602	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.562686	0.96527	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39997	3.12;3.12;3.12;3.12;3.12;1.82;1.05;3.12;1.82;3.12;3.12;1.82;3.12;3.12	5.99	5.99	0.97316	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	L	0.42686	1.345	0.80722	D	1	P;D;D;D	0.58970	0.923;0.984;0.964;0.957	P;P;P;P	0.53722	0.63;0.733;0.73;0.493	T	0.48115	-0.9063	10	0.59425	D	0.04	.	19.4659	0.94939	0.0:0.0:1.0:0.0	.	192;201;167;185	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	Q	167;185;201;167;99;167;167;99;167;167;201;167;167;192;167	ENSP00000362705:R167Q;ENSP00000441469:R185Q;ENSP00000362702:R201Q;ENSP00000319734:R167Q;ENSP00000442636:R167Q;ENSP00000389517:R167Q;ENSP00000405215:R99Q;ENSP00000362698:R167Q;ENSP00000403087:R167Q;ENSP00000377749:R201Q;ENSP00000441426:R167Q;ENSP00000411401:R167Q;ENSP00000439651:R192Q;ENSP00000403414:R167Q	ENSP00000319734:R167Q	R	+	2	0	NEK6	126128524	1.000000	0.71417	0.515000	0.27774	0.869000	0.49853	9.274000	0.95731	2.840000	0.97914	0.655000	0.94253	CGG	-	NEK6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.622	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	0	0		24	24		0.00		G	NM_014397		127088703	+1	20		29		tier1	no_errors	ENST00000373600	ensembl	human	known	74_37	missense	40.82		SNP	1.000	A	20	29
GPR56	9289	genome.wustl.edu	37	16	57697426	57697426	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:57697426C>T	ENST00000388812.4	+	14	2454	c.2014C>T	c.(2014-2016)Ctg>Ttg	p.L672L	GPR56_ENST00000568908.1_Silent_p.L666L|GPR56_ENST00000379696.3_Silent_p.L672L|GPR56_ENST00000456916.1_Silent_p.L672L|GPR56_ENST00000568909.1_Silent_p.L672L|GPR56_ENST00000567835.1_Silent_p.L672L|GPR56_ENST00000562558.1_Silent_p.L666L|GPR56_ENST00000388813.5_Silent_p.L666L|GPR56_ENST00000538815.1_Silent_p.L666L|GPR56_ENST00000562631.1_Silent_p.L666L|GPR56_ENST00000540164.2_Silent_p.L666L|GPR56_ENST00000544297.1_Silent_p.L491L|GPR56_ENST00000379694.4_Silent_p.L502L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	672					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCCCTCCCCTCTGAAGAGCAA	0.662													ENSG00000205336																																					0													56.0	58.0	57.0					16																	57697426		2198	4300	6498	SO:0001819	synonymous_variant	0			-	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.2014C>T	16.37:g.57697426C>T			A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L672	ENST00000388812.4	37	c.2014	CCDS32460.1	16																																																																																			-	GPR56	-	NULL		0.662	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	0	0		92	92		0.00		C			57697426	+1	15		48		tier1	no_errors	ENST00000379696	ensembl	human	known	74_37	silent	23.81		SNP	0.996	T	15	48
JOSD2	126119	genome.wustl.edu	37	19	51009439	51009439	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:51009439C>T	ENST00000598418.1	-	5	811	c.558G>A	c.(556-558)cgG>cgA	p.R186R	JOSD2_ENST00000595669.1_Silent_p.R144R|JOSD2_ENST00000601423.1_Silent_p.R186R|JOSD2_ENST00000391815.3_Silent_p.R186R	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	186	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		GTCAGTCTGTCCGCAGCCAGC	0.677													ENSG00000161677																																					0													64.0	54.0	57.0					19																	51009439		2203	4294	6497	SO:0001819	synonymous_variant	0			-	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.558G>A	19.37:g.51009439C>T			M0QX25	Silent	SNP	pfam_Josephin,prints_Josephin,pfscan_Josephin	p.R186	ENST00000598418.1	37	c.558	CCDS12797.1	19																																																																																			-	JOSD2	-	pfscan_Josephin		0.677	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JOSD2	HGNC	protein_coding	OTTHUMT00000464902.1	0	0		59	59		0.00		C	NM_138334		51009439	-1	41		63		tier1	no_errors	ENST00000391815	ensembl	human	known	74_37	silent	39.42		SNP	0.059	T	41	63
ST6GALNAC5	81849	genome.wustl.edu	37	1	77510053	77510053	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:77510053G>A	ENST00000477717.1	+	3	661	c.426G>A	c.(424-426)agG>agA	p.R142R		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	142					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGCCTGAGGGTCATCGCGC	0.622													ENSG00000117069																																					0													78.0	67.0	71.0					1																	77510053		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.426G>A	1.37:g.77510053G>A			B1AK82	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R142	ENST00000477717.1	37	c.426	CCDS673.1	1																																																																																			-	ST6GALC5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.622	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALC5	HGNC	protein_coding	OTTHUMT00000026692.2	0	0		52	52		0.00		G	NM_030965		77510053	+1	9		50		tier1	no_errors	ENST00000477717	ensembl	human	known	74_37	silent	15.00		SNP	0.994	A	9	50
CEBPZ	10153	genome.wustl.edu	37	2	37455747	37455747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:37455747G>A	ENST00000234170.5	-	2	734	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	197					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCTGAGGCTGGGGTTTCAAA	0.388													ENSG00000115816																																					0													120.0	124.0	123.0					2																	37455747		2203	4300	6503	SO:0001587	stop_gained	0			-	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.589C>T	2.37:g.37455747G>A	ENSP00000234170:p.Gln197*		Q8NE75	Nonsense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.Q197*	ENST00000234170.5	37	c.589	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741215	0.89573	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000234170:Q197X	Q	-	1	0	CEBPZ	37309251	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.344000	0.79328	2.666000	0.90696	0.655000	0.94253	CAG	-	CEBPZ	-	NULL		0.388	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	0	0		38	38		0.00		G	NM_005760		37455747	-1	12		36		tier1	no_errors	ENST00000234170	ensembl	human	known	74_37	nonsense	25.00		SNP	1.000	A	12	36
PCDHGA8	9708	genome.wustl.edu	37	5	140773134	140773134	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140773134C>T	ENST00000398604.2	+	1	754	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	252	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)			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)			AGTGAAAGTCCTTGAGAACAT	0.522													ENSG00000253767																																					0													78.0	84.0	82.0					5																	140773134		1997	4172	6169	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.754C>T	5.37:g.140773134C>T	ENSP00000381605:p.Leu252Phe		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L252F	ENST00000398604.2	37	c.754	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	3.871	-0.027964	0.07589	.	.	ENSG00000253767	ENST00000398604	T	0.52057	0.68	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.335242	0.16209	U	0.224573	T	0.37732	0.1014	L	0.27944	0.81	0.09310	N	1	B;B	0.13594	0.008;0.007	B;B	0.15484	0.013;0.012	T	0.23547	-1.0185	10	0.45353	T	0.12	.	14.5397	0.67984	0.1471:0.8529:0.0:0.0	.	252;252	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	F	252	ENSP00000381605:L252F	ENSP00000381605:L252F	L	+	1	0	PCDHGA8	140753318	0.000000	0.05858	0.945000	0.38365	0.102000	0.19082	-0.510000	0.06328	2.552000	0.86080	0.655000	0.94253	CTT	-	PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.522	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	0	0		31	31		0.00		C	NM_032088		140773134	+1	7		39		tier1	no_errors	ENST00000398604	ensembl	human	known	74_37	missense	15.22		SNP	0.033	T	7	39
ARPP21	10777	genome.wustl.edu	37	3	35763105	35763105	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:35763105G>A	ENST00000187397.4	+	14	1460	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	ARPP21_ENST00000417925.1_Missense_Mutation_p.R301K|ARPP21_ENST00000337271.5_Missense_Mutation_p.R281K|ARPP21_ENST00000458225.1_Missense_Mutation_p.R301K|ARPP21_ENST00000444190.1_Missense_Mutation_p.R281K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	335					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGGGGCAACAGAGATGGCTCA	0.532													ENSG00000172995																																					0													49.0	46.0	47.0					3																	35763105		2203	4300	6503	SO:0001583	missense	0			-	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1004G>A	3.37:g.35763105G>A	ENSP00000187397:p.Arg335Lys		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R301K	ENST00000187397.4	37	c.902	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748398	0.49257	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.91;1.84	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.28274	0.84	0.44871	D	0.997883	D;D;D	0.61080	0.981;0.979;0.989	P;P;D	0.63703	0.854;0.827;0.917	T	0.01711	-1.1290	10	0.07175	T	0.84	-18.4735	12.5944	0.56461	0.0772:0.0:0.9228:0.0	.	301;335;281	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	K	301;281;281;335;301	ENSP00000414351:R301K;ENSP00000337792:R281K;ENSP00000405276:R281K;ENSP00000187397:R335K;ENSP00000412326:R301K	ENSP00000187397:R335K	R	+	2	0	ARPP21	35738109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.815000	0.69215	2.720000	0.93068	0.650000	0.86243	AGA	-	ARPP21	-	NULL		0.532	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	0	0		27	27		0.00		G	NM_198399		35763105	+1	14		31		tier1	no_errors	ENST00000417925	ensembl	human	known	74_37	missense	31.11		SNP	1.000	A	14	31
SMG6	23293	genome.wustl.edu	37	17	2075958	2075958	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:2075958C>T	ENST00000263073.6	-	13	3401	c.3351G>A	c.(3349-3351)tcG>tcA	p.S1117S	SMG6_ENST00000544865.1_Silent_p.S1086S|SMG6_ENST00000354901.4_Silent_p.S209S|SMG6_ENST00000536871.2_Silent_p.S209S	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1117					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGACCTTATCCGAGGTTTTCT	0.527													ENSG00000070366																									Melanoma(59;28 1088 11621 25887 46638 50814)												0													70.0	68.0	68.0					17																	2075958		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3351G>A	17.37:g.2075958C>T			B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	pfam_EST1,smart_PIN_dom	p.S1117	ENST00000263073.6	37	c.3351	CCDS11016.1	17																																																																																			-	SMG6	-	NULL		0.527	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	0	0		95	95		0.00		C			2075958	-1	88		56		tier1	no_errors	ENST00000263073	ensembl	human	known	74_37	silent	61.11		SNP	1.000	T	88	56
DPP6	1804	genome.wustl.edu	37	7	154677386	154677386	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:154677386G>A	ENST00000377770.3	+	22	2318	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	DPP6_ENST00000332007.3_Missense_Mutation_p.G664E|DPP6_ENST00000427557.1_Missense_Mutation_p.G619E|DPP6_ENST00000404039.1_Missense_Mutation_p.G662E			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	726					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAGCAAAGGGAGAAAATCAA	0.517													ENSG00000130226																									NSCLC(125;1384 1783 2490 7422 34254)												0													63.0	68.0	66.0					7																	154677386		2004	4183	6187	SO:0001583	missense	0			-	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2177G>A	7.37:g.154677386G>A	ENSP00000367001:p.Gly726Glu			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G726E	ENST00000377770.3	37	c.2177		7	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.158831	0.01686	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.43	-4.1	0.03940	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.494637	0.22560	N	0.058471	T	0.21227	0.0511	L	0.41632	1.29	0.19300	N	0.999979	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.08086	-1.0739	10	0.25106	T	0.35	-0.1627	0.7419	0.00975	0.2576:0.2933:0.2429:0.2063	.	619;664;726;662	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	662;726;664;619	ENSP00000385578:G662E;ENSP00000367001:G726E;ENSP00000328226:G664E;ENSP00000397303:G619E	ENSP00000328226:G664E	G	+	2	0	DPP6	154308319	0.016000	0.18221	0.007000	0.13788	0.001000	0.01503	0.167000	0.16602	-0.247000	0.09597	-0.282000	0.10007	GGA	-	DPP6	-	pfam_Peptidase_S9		0.517	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	0	0		60	60		0.00		G	NM_130797		154677386	+1	31		48		tier1	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	39.24		SNP	0.000	A	31	48
PTPRG	5793	genome.wustl.edu	37	3	62248344	62248344	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:62248344C>T	ENST00000474889.1	+	17	2936				PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000469148.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Intron|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATAATTATATCCGAAGTTGGG	0.313													ENSG00000241472																																					0																																										SO:0001627	intron_variant	0			-	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2560-129C>T	3.37:g.62248344C>T			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	R	SNP	-	NULL	ENST00000474889.1	37	NULL	CCDS2895.1	3																																																																																			-	PTPRG-AS1	-	-		0.313	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG-AS1	HGNC	protein_coding	OTTHUMT00000351674.1	0	0		23	23		0.00		C	NM_002841		62248344	-1	10		16		tier1	no_errors	ENST00000462497	ensembl	human	known	74_37	rna	38.46		SNP	0.000	T	10	16
PRAMEF10	343071	genome.wustl.edu	37	1	12954572	12954572	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:12954572G>A	ENST00000235347.4	-	3	790	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	237					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(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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)		AGGCTAAAAAGAGTTCACGAA	0.498													ENSG00000187545																																					0													87.0	65.0	72.0					1																	12954572		1877	4036	5913	SO:0001819	synonymous_variant	0			-	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.711C>T	1.37:g.12954572G>A			Q2M1V2	Silent	SNP	NULL	p.L237	ENST00000235347.4	37	c.711	CCDS41255.1	1																																																																																			-	PRAMEF10	-	NULL		0.498	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	0	0		194	194		0.00		G	XM_496342		12954572	-1	40		202		tier1	no_errors	ENST00000235347	ensembl	human	known	74_37	silent	16.46		SNP	0.001	A	40	202
SVOPL	136306	genome.wustl.edu	37	7	138313074	138313074	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:138313074G>A	ENST00000419765.3	-	10	931	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000288513.5_Silent_p.L148L|SVOPL_ENST00000436657.1_Silent_p.L148L|SVOPL_ENST00000421622.1_Silent_p.L180L	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	300						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCACTGGCCAGGATAACCCCA	0.572													ENSG00000157703																																					0													72.0	71.0	71.0					7																	138313074		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.898C>T	7.37:g.138313074G>A				Silent	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L148	ENST00000419765.3	37	c.442	CCDS47721.1	7																																																																																			-	SVOPL	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.572	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	0	0		28	28		0.00		G	NM_174959		138313074	-1	19		38		tier1	no_errors	ENST00000288513	ensembl	human	known	74_37	silent	33.33		SNP	1.000	A	19	38
DCDC1	341019	genome.wustl.edu	37	11	30902755	30902755	+	Missense_Mutation	SNP	C	C	T	rs201047907		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:30902755C>T	ENST00000597505.1	-	35	5173	c.5174G>A	c.(5173-5175)cGa>cAa	p.R1725Q				P59894	DCDC1_HUMAN	doublecortin domain containing 1	231					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)					GACCATATCTCGCTCTATGTC	0.463													ENSG00000170959																																					0								C	GLN/ARG	0,3916		0,0,1958	109.0	106.0	107.0		2495	2.7	0.1	11		107	1,8323		0,1,4161	yes	missense	DCDC5	NM_020869.3	43	0,1,6119	TT,TC,CC		0.012,0.0,0.0082		832/891	30902755	1,12239	1958	4162	6120	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.5174G>A	11.37:g.30902755C>T	ENSP00000472625:p.Arg1725Gln		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.R1725Q	ENST00000597505.1	37	c.5174		11																																																																																			rs201047907	DCDC1	-	smart_Doublecortin_dom		0.463	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	0	0		51	51		0.00		C	NM_181807		30902755	-1	26		63		tier1	no_errors	ENST00000597505	ensembl	human	putative	74_37	missense	29.21		SNP	0.163	T	26	63
KGFLP2	654466	genome.wustl.edu	37	9	41963856	41963856	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:41963856C>T	ENST00000454645.1	-	0	739					NR_003670.1																						TAGAGTTTTCCTTCCTCGTTC	0.363													ENSG00000204837																																					0																																												0			-																													9.37:g.41963856C>T				R	SNP	-	NULL	ENST00000454645.1	37	NULL		9																																																																																			-	RP11-204M4.2	-	-		0.363	RP11-204M4.2-001	KNOWN	basic	lincRNA	KGFLP2	Clone_based_vega_gene	lincRNA	OTTHUMT00000143738.1	0	0		917	917		0.00		C			41963856	-1	138		926		tier1	no_errors	ENST00000454645	ensembl	human	known	74_37	rna	12.93		SNP	1.000	T	138	926
C3orf27	23434	genome.wustl.edu	37	3	128292214	128292214	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:128292214G>A	ENST00000356020.2	-	3	1325	c.359C>T	c.(358-360)tCt>tTt	p.S120F		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	120										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		CTGGAAACCAGAGCTTGATGT	0.572													ENSG00000198685																																					0													62.0	68.0	66.0					3																	128292214		2203	4300	6503	SO:0001583	missense	0			-	AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.359C>T	3.37:g.128292214G>A	ENSP00000348302:p.Ser120Phe			Missense_Mutation	SNP	NULL	p.S120F	ENST00000356020.2	37	c.359	CCDS3050.1	3	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414424	0.11870	.	.	ENSG00000198685	ENST00000356020	.	.	.	2.44	-3.74	0.04385	.	.	.	.	.	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.17433	0.018	T	0.15838	-1.0423	8	0.87932	D	0	.	1.8958	0.03257	0.1239:0.2666:0.3833:0.2262	.	120	O15544	GR6_HUMAN	F	120	.	ENSP00000348302:S120F	S	-	2	0	C3orf27	129774904	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.216000	0.17585	-1.637000	0.01531	-1.961000	0.00478	TCT	-	C3orf27	-	NULL		0.572	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1	0	0		42	42		0.00		G	NM_007354		128292214	-1	27		38		tier1	no_errors	ENST00000356020	ensembl	human	known	74_37	missense	40.91		SNP	0.000	A	27	38
GJA5	2702	genome.wustl.edu	37	1	147230586	147230586	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:147230586G>A	ENST00000271348.2	-	2	922	c.761C>T	c.(760-762)tCt>tTt	p.S254F	GJA5_ENST00000369237.1_Missense_Mutation_p.S254F|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	254					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)			TATGCCCACAGAGGGGCCAGA	0.537													ENSG00000143140																																					0													62.0	67.0	66.0					1																	147230586		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.761C>T	1.37:g.147230586G>A	ENSP00000271348:p.Ser254Phe		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.S254F	ENST00000271348.2	37	c.761	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810979	0.50421	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	D;D	0.97665	-4.48;-4.48	5.68	4.77	0.60923	.	3.650830	0.00794	N	0.001372	D	0.91422	0.7293	L	0.44542	1.39	0.09310	N	1	B	0.18741	0.03	B	0.12837	0.008	T	0.81992	-0.0678	10	0.56958	D	0.05	.	6.7211	0.23330	0.072:0.1193:0.6712:0.1374	.	254	P36382	CXA5_HUMAN	F	254	ENSP00000271348:S254F;ENSP00000358240:S254F	ENSP00000271348:S254F	S	-	2	0	GJA5	145697210	0.507000	0.26146	0.007000	0.13788	0.812000	0.45895	3.151000	0.50670	1.400000	0.46741	0.563000	0.77884	TCT	-	GJA5	-	NULL		0.537	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2	0	0		32	32		0.00		G	NM_181703		147230586	-1	22		24		tier1	no_errors	ENST00000271348	ensembl	human	known	74_37	missense	47.83		SNP	0.019	A	22	24
ENAM	10117	genome.wustl.edu	37	4	71500252	71500252	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:71500252A>G	ENST00000396073.3	+	6	719	c.438A>G	c.(436-438)caA>caG	p.Q146Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	146					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CACATAATCAACCTCAGCCCG	0.488													ENSG00000132464																																					0													99.0	103.0	102.0					4																	71500252		2203	4296	6499	SO:0001819	synonymous_variant	0			-	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.438A>G	4.37:g.71500252A>G			Q17RI5|Q9H3D1	Silent	SNP	NULL	p.Q146	ENST00000396073.3	37	c.438	CCDS3544.2	4																																																																																			-	EM	-	NULL		0.488	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EM	HGNC	protein_coding	OTTHUMT00000252166.3	0	0		41	41		0.00		A	NM_031889		71500252	+1	14		29		tier1	no_errors	ENST00000396073	ensembl	human	known	74_37	silent	32.56		SNP	0.000	G	14	29
TMUB2	79089	genome.wustl.edu	37	17	42271725	42271725	+	IGR	DEL	A	A	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42271725delA	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000389384.4_Frame_Shift_Del_p.L317fs|ATXN7L3_ENST00000454077.2_Frame_Shift_Del_p.L324fs|ATXN7L3_ENST00000593073.1_5'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGTCCCTACCAGGCTCAGATG	0.517													ENSG00000087152																																					0													150.0	154.0	153.0					17																	42271725		2021	4188	6209	SO:0001628	intergenic_variant	0					CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			17.37:g.42271725delA			B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Frame_Shift_Del	DEL	pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.L324fs	ENST00000587989.1	37	c.971	CCDS54134.1	17																																																																																				ATXN7L3	-	NULL		0.517	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	HGNC	protein_coding	OTTHUMT00000457711.1	0	0		59	59		0.00		A	NM_177441		42271725	-1	22		44		tier1	no_errors	ENST00000454077	ensembl	human	known	74_37	frame_shift_del	33.33		DEL	1.000	-	22	44
GIMAP4	55303	genome.wustl.edu	37	7	150269276	150269276	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150269276G>A	ENST00000255945.2	+	3	293	c.118G>A	c.(118-120)Gga>Aga	p.G40R	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.G54R	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	40	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTAAAACCGGAGCAGGAAA	0.453													ENSG00000133574																																					0													74.0	79.0	78.0					7																	150269276		2203	4300	6503	SO:0001583	missense	0			-	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.118G>A	7.37:g.150269276G>A	ENSP00000255945:p.Gly40Arg			Missense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.G40R	ENST00000255945.2	37	c.118	CCDS5904.1	7	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319619	0.60524	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938;ENST00000479232	T;T;T	0.63580	-0.05;-0.05;-0.05	4.61	4.61	0.57282	AIG1 (1);	0.056880	0.64402	D	0.000001	T	0.82029	0.4948	M	0.91872	3.25	0.46849	D	0.99922	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	D	0.85624	0.1266	10	0.72032	D	0.01	.	12.8024	0.57594	0.0:0.0:1.0:0.0	.	54;40	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	R	40;54;40;54	ENSP00000255945:G40R;ENSP00000419545:G54R;ENSP00000418615:G54R	ENSP00000255945:G40R	G	+	1	0	GIMAP4	149900209	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	5.073000	0.64395	2.416000	0.81992	0.655000	0.94253	GGA	-	GIMAP4	-	pfam_AIG1,superfamily_P-loop_NTPase		0.453	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP4	HGNC	protein_coding	OTTHUMT00000348927.1	0	0		47	47		0.00		G	NM_018326		150269276	+1	18		42		tier1	no_errors	ENST00000255945	ensembl	human	known	74_37	missense	29.03		SNP	1.000	A	18	42
FUCA1	2517	genome.wustl.edu	37	1	24191983	24191983	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:24191983C>T	ENST00000374479.3	-	2	529	c.522G>A	c.(520-522)aaG>aaA	p.K174K		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	174					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		ACACTCACCTCTTCCGGAGAG	0.498													ENSG00000179163																																					0													129.0	116.0	120.0					1																	24191983		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.522G>A	1.37:g.24191983C>T			B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Silent	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.K174	ENST00000374479.3	37	c.522	CCDS244.2	1																																																																																			-	FUCA1	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub		0.498	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA1	HGNC	protein_coding	OTTHUMT00000008259.2	0	0		41	41		0.00		C	NM_000147		24191983	-1	19		45		tier1	no_errors	ENST00000374479	ensembl	human	known	74_37	silent	29.69		SNP	0.999	T	19	45
ZNF792	126375	genome.wustl.edu	37	19	35449413	35449413	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:35449413G>A	ENST00000404801.1	-	4	1732	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L	ZNF792_ENST00000605484.1_Missense_Mutation_p.P382L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACACCCGTGAGGCCGCTCGCC	0.502													ENSG00000180884																									GBM(1;7 183 21053 22581 22847)												0													119.0	116.0	117.0					19																	35449413		2203	4300	6503	SO:0001583	missense	0			-	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1346C>T	19.37:g.35449413G>A	ENSP00000385099:p.Pro449Leu		B4E333|Q495L1|Q495L3|Q8N932	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.P449L	ENST00000404801.1	37	c.1346	CCDS12440.2	19	.	.	.	.	.	.	.	.	.	.	g	14.61	2.587584	0.46110	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.27557	1.66	2.77	2.77	0.32553	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54565	0.1866	M	0.80332	2.49	0.51233	D	0.999913	D	0.89917	1.0	D	0.91635	0.999	T	0.61004	-0.7150	9	0.66056	D	0.02	.	11.7133	0.51637	0.0:0.0:1.0:0.0	.	449	Q3KQV3	ZN792_HUMAN	L	449;209	ENSP00000385099:P449L	ENSP00000368487:P209L	P	-	2	0	ZNF792	40141253	1.000000	0.71417	0.020000	0.16555	0.153000	0.21895	3.724000	0.54962	1.854000	0.53819	0.563000	0.77884	CCT	-	ZNF792	-	pfscan_Znf_C2H2		0.502	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF792	HGNC	protein_coding	OTTHUMT00000317673.1	0	0		34	34		0.00		G	NM_175872		35449413	-1	9		35		tier1	no_errors	ENST00000404801	ensembl	human	known	74_37	missense	19.57		SNP	0.965	A	9	35
OR2AG1	144125	genome.wustl.edu	37	11	6807180	6807180	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6807180C>T	ENST00000307401.4	+	1	933	c.912C>T	c.(910-912)gtC>gtT	p.V304V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	304						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(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGGAGGGTCCTGGGAAAAT	0.483													ENSG00000170803																																					0													81.0	74.0	76.0					11																	6807180		2201	4296	6497	SO:0001819	synonymous_variant	0			-	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.912C>T	11.37:g.6807180C>T			B9EKV7|Q6IFG7|Q96R26	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V304	ENST00000307401.4	37	c.912	CCDS31414.1	11																																																																																			-	OR2AG1	-	NULL		0.483	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG1	HGNC	protein_coding	OTTHUMT00000385980.1	0	0		55	55		0.00		C	NM_001004489		6807180	+1	28		47		tier1	no_errors	ENST00000307401	ensembl	human	known	74_37	silent	37.33		SNP	0.006	T	28	47
TCF20	6942	genome.wustl.edu	37	22	42610264	42610264	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:42610264G>A	ENST00000359486.3	-	1	1184	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	TCF20_ENST00000335626.4_Missense_Mutation_p.P350S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGAACCTCAGGCTGGTTGTAC	0.547													ENSG00000100207																																					0													87.0	88.0	88.0					22																	42610264		2203	4300	6503	SO:0001583	missense	0			-	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1048C>T	22.37:g.42610264G>A	ENSP00000352463:p.Pro350Ser		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.P350S	ENST00000359486.3	37	c.1048	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	3.042	-0.197221	0.06259	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.29655	1.56;1.56	5.85	5.85	0.93711	.	0.171296	0.41500	D	0.000867	T	0.14787	0.0357	N	0.12182	0.205	0.80722	D	1	B;B	0.20988	0.05;0.03	B;B	0.17722	0.019;0.009	T	0.21930	-1.0231	10	0.22109	T	0.4	-14.9283	5.3675	0.16121	0.0756:0.1331:0.6352:0.1562	.	350;350	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	S	350	ENSP00000352463:P350S;ENSP00000335561:P350S	ENSP00000335561:P350S	P	-	1	0	TCF20	40940208	0.995000	0.38212	0.998000	0.56505	0.054000	0.15201	0.477000	0.22196	2.767000	0.95098	0.655000	0.94253	CCT	-	TCF20	-	NULL		0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	0	0		74	74		0.00		G	NM_181492		42610264	-1	30		103		tier1	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	22.56		SNP	0.997	A	30	103
CDH4	1002	genome.wustl.edu	37	20	60348068	60348068	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:60348068G>A	ENST00000360469.5	+	4	494	c.406G>A	c.(406-408)Gga>Aga	p.G136R	CDH4_ENST00000543233.1_Missense_Mutation_p.G62R	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	136					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCGCAGAAAGGAAAGAAGGT	0.572													ENSG00000179242																																					0													39.0	40.0	40.0					20																	60348068		2203	4300	6503	SO:0001583	missense	0			-	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.406G>A	20.37:g.60348068G>A	ENSP00000353656:p.Gly136Arg		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.G136R	ENST00000360469.5	37	c.406	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	2.204	-0.382269	0.04966	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.55052	0.54;0.55	4.84	4.84	0.62591	Cadherin-like (1);	1.143940	0.06484	N	0.733313	T	0.36552	0.0971	N	0.08118	0	0.25888	N	0.983515	P	0.45902	0.868	B	0.36666	0.23	T	0.44711	-0.9310	9	.	.	.	.	17.9449	0.89036	0.0:0.0:1.0:0.0	.	136	P55283	CADH4_HUMAN	R	136;44;62	ENSP00000353656:G136R;ENSP00000443301:G62R	.	G	+	1	0	CDH4	59781463	0.999000	0.42202	0.789000	0.31954	0.005000	0.04900	4.894000	0.63206	2.221000	0.72209	0.655000	0.94253	GGA	-	CDH4	-	superfamily_Cadherin-like		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	0	0		43	43		0.00		G	NM_001794		60348068	+1	7		37		tier1	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	15.91		SNP	0.358	A	7	37
HILPDA	29923	genome.wustl.edu	37	7	128096093	128096093	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:128096093G>A	ENST00000257696.4	+	1	133				RP11-212P7.3_ENST00000462662.1_RNA|HILPDA_ENST00000481454.1_3'UTR|HILPDA_ENST00000435296.2_Intron|RP11-155G14.6_ENST00000493710.1_RNA	NM_001098786.1|NM_013332.3	NP_001092256.1|NP_037464.1	Q9Y5L2	HLPDA_HUMAN	hypoxia inducible lipid droplet-associated						autocrine signaling (GO:0035425)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of lipid storage (GO:0010884)|response to stress (GO:0006950)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|secretory granule (GO:0030141)	receptor binding (GO:0005102)										CGGCCCTGTGGGCTTCCCCGG	0.692													ENSG00000135245																																					0																																										SO:0001627	intron_variant	0			-	AF144755	CCDS5802.1	7q32.1	2011-11-02	2011-11-02	2011-11-02	ENSG00000135245	ENSG00000135245			28859	protein-coding gene	gene with protein product	"""hypoxia inducible gene 2"""		"""chromosome 7 open reading frame 68"""	C7orf68		10690527, 15930302	Standard	NM_001098786		Approved	FLJ21076, HIG-2, HIG2	uc010lli.3	Q9Y5L2	OTTHUMG00000157712	ENST00000257696.4:c.-69+16G>A	7.37:g.128096093G>A			A4D0Z5|Q52LY5|Q53HJ7	R	SNP	-	NULL	ENST00000257696.4	37	NULL	CCDS5802.1	7																																																																																			-	HILPDA	-	-		0.692	HILPDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILPDA	HGNC	protein_coding	OTTHUMT00000349450.1	0	0		28	28		0.00		G	NM_013332		128096093	+1	14		30		tier1	no_errors	ENST00000481454	ensembl	human	known	74_37	rna	31.82		SNP	0.008	A	14	30
SHROOM3	57619	genome.wustl.edu	37	4	77631425	77631425	+	Missense_Mutation	SNP	T	T	G	rs3821979	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:77631425T>G	ENST00000296043.6	+	3	1393	c.440T>G	c.(439-441)cTt>cGt	p.L147R	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	147			L -> H (in dbSNP:rs3821979).		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)			GGGGTTAAACTTCGGCTGAAG	0.577													ENSG00000138771																																					0			GRCh37	CM063143	SHROOM3	M	rs3821979						85.0	73.0	77.0					4																	77631425		2203	4300	6503	SO:0001583	missense	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.440T>G	4.37:g.77631425T>G	ENSP00000296043:p.Leu147Arg		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L147R	ENST00000296043.6	37	c.440	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627954	0.46944	.	.	ENSG00000138771	ENST00000296043	T	0.33865	1.39	4.96	3.78	0.43462	.	0.000000	0.36101	N	0.002789	T	0.46580	0.1400	M	0.62723	1.935	0.35594	D	0.807311	D	0.58268	0.982	P	0.55824	0.785	T	0.59241	-0.7491	10	0.87932	D	0	-2.793	7.8964	0.29708	0.0:0.0961:0.0:0.9039	.	147	Q8TF72	SHRM3_HUMAN	R	147	ENSP00000296043:L147R	ENSP00000296043:L147R	L	+	2	0	SHROOM3	77850449	0.921000	0.31238	1.000000	0.80357	0.879000	0.50718	0.142000	0.16096	1.002000	0.39104	0.482000	0.46254	CTT	-	SHROOM3	-	NULL		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	0	0		70	70		0.00		T	NM_020859		77631425	+1	18		84		tier1	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	17.65		SNP	1.000	G	18	84
NOD1	10392	genome.wustl.edu	37	7	30490912	30490912	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:30490912G>A	ENST00000222823.4	-	6	2646	c.2121C>T	c.(2119-2121)gcC>gcT	p.A707A		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	707					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTAGGTCTAGGGCCAGCCGCT	0.622													ENSG00000106100																																					0													94.0	99.0	97.0					7																	30490912		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2121C>T	7.37:g.30490912G>A			B4DTU3|Q549U4|Q8IWF5	Silent	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_CARD	p.A707	ENST00000222823.4	37	c.2121	CCDS5427.1	7																																																																																			-	NOD1	-	NULL		0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	0	0		37	37		0.00		G			30490912	-1	16		55		tier1	no_errors	ENST00000222823	ensembl	human	known	74_37	silent	22.54		SNP	0.974	A	16	55
PYDC2	152138	genome.wustl.edu	37	3	191179057	191179057	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:191179057G>A	ENST00000518817.1	+	1	106	c.106G>A	c.(106-108)Gga>Aga	p.G36R		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	36	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AATCTCCCTGGGAAAGGAGCT	0.532													ENSG00000253548																																					0													77.0	85.0	82.0					3																	191179057		2202	4300	6502	SO:0001583	missense	0			-			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.106G>A	3.37:g.191179057G>A	ENSP00000428325:p.Gly36Arg			Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	p.G36R	ENST00000518817.1	37	c.106		3	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489215	0.26686	.	.	ENSG00000253548	ENST00000518817	T	0.43688	0.94	0.688	-1.06	0.10002	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.29882	0.0747	.	.	.	0.09310	N	1	P	0.49185	0.92	B	0.42462	0.388	T	0.15122	-1.0448	7	0.42905	T	0.14	.	.	.	.	.	36	Q56P42	PYDC2_HUMAN	R	36	ENSP00000428325:G36R	ENSP00000428325:G36R	G	+	1	0	PYDC2	192661751	0.174000	0.23070	0.006000	0.13384	0.281000	0.26958	0.095000	0.15127	-0.369000	0.08028	0.313000	0.20887	GGA	-	PYDC2	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.532	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	PYDC2	HGNC	protein_coding	OTTHUMT00000343231.2	0	0		62	62		0.00		G	NM_001083308		191179057	+1	36		55		tier1	no_errors	ENST00000518817	ensembl	human	known	74_37	missense	39.56		SNP	0.007	A	36	55
GPRIN1	114787	genome.wustl.edu	37	5	176026413	176026413	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:176026413G>A	ENST00000303991.4	-	2	600	c.423C>T	c.(421-423)tcC>tcT	p.S141S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	141					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCATCTGAGGATTTGGGCT	0.522													ENSG00000169258																																					0													113.0	116.0	115.0					5																	176026413		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.423C>T	5.37:g.176026413G>A			C9JM70|Q8ND74|Q96PZ4	Silent	SNP	NULL	p.S141	ENST00000303991.4	37	c.423	CCDS4405.1	5																																																																																			-	GPRIN1	-	NULL		0.522	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	0	0		58	58		0.00		G	NM_052899		176026413	-1	30		53		tier1	no_errors	ENST00000303991	ensembl	human	known	74_37	silent	36.14		SNP	0.005	A	30	53
C10orf120	399814	genome.wustl.edu	37	10	124457606	124457606	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:124457606G>A	ENST00000329446.4	-	3	682	c.651C>T	c.(649-651)acC>acT	p.T217T		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	217										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CACAATTATGGGTGTCATAGT	0.413													ENSG00000183559																																					0													116.0	96.0	103.0					10																	124457606		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.651C>T	10.37:g.124457606G>A			B2RU17	Silent	SNP	NULL	p.T217	ENST00000329446.4	37	c.651	CCDS31302.1	10																																																																																			-	C10orf120	-	NULL		0.413	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	0	0		42	42		0.00		G	NM_001010912		124457606	-1	12		42		tier1	no_errors	ENST00000329446	ensembl	human	known	74_37	silent	22.22		SNP	0.000	A	12	42
TNFRSF19	55504	genome.wustl.edu	37	13	24233222	24233222	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:24233222C>T	ENST00000382258.4	+	6	683	c.479C>T	c.(478-480)tCc>tTc	p.S160F	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.S160F|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.S28F|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.S160F	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	160					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AAGATCGCGTCCACGGCCTCC	0.592													ENSG00000127863																																					0													67.0	62.0	64.0					13																	24233222		2203	4300	6503	SO:0001583	missense	0			-	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.479C>T	13.37:g.24233222C>T	ENSP00000371693:p.Ser160Phe		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.S160F	ENST00000382258.4	37	c.479	CCDS9302.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.149492	0.94645	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.77	5.77	0.91146	.	0.101398	0.64402	D	0.000001	T	0.53834	0.1821	M	0.74258	2.255	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.994	T	0.44772	-0.9306	10	0.36615	T	0.2	-32.2312	19.9837	0.97340	0.0:1.0:0.0:0.0	.	28;160;160	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	F	160;28;160;160	ENSP00000248484:S160F;ENSP00000385408:S28F;ENSP00000371693:S160F;ENSP00000371698:S160F	ENSP00000248484:S160F	S	+	2	0	TNFRSF19	23131222	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	7.441000	0.80485	2.723000	0.93209	0.655000	0.94253	TCC	-	TNFRSF19	-	prints_TNFR_19		0.592	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	0	0		25	25		0.00		C	NM_018647		24233222	+1	4		18		tier1	no_errors	ENST00000382258	ensembl	human	known	74_37	missense	18.18		SNP	1.000	T	4	18
LTBP1	4052	genome.wustl.edu	37	2	33359995	33359995	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:33359995C>T	ENST00000404816.2	+	5	1522	c.1169C>T	c.(1168-1170)gCc>gTc	p.A390V	LTBP1_ENST00000402934.1_Missense_Mutation_p.A64V|LTBP1_ENST00000390003.4_Missense_Mutation_p.A64V|LTBP1_ENST00000354476.3_Missense_Mutation_p.A390V|LTBP1_ENST00000407925.1_Missense_Mutation_p.A64V|LTBP1_ENST00000418533.2_Missense_Mutation_p.A64V|LTBP1_ENST00000404525.1_Missense_Mutation_p.A64V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	390					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGTCATGCTGCCGACACCCTG	0.517													ENSG00000049323																																					0													89.0	74.0	79.0					2																	33359995		2203	4300	6503	SO:0001583	missense	0			-		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1169C>T	2.37:g.33359995C>T	ENSP00000386043:p.Ala390Val		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A390V	ENST00000404816.2	37	c.1169	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442573	0.83993	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;T;T;T;T;T;T	0.81499	-1.5;-1.48;-1.42;-1.39;-1.41;-1.4;-1.39	5.71	5.71	0.89125	.	.	.	.	.	D	0.87704	0.6244	L	0.52573	1.65	0.80722	D	1	D;D;P;D;D;D	0.89917	0.994;1.0;0.93;0.998;1.0;0.997	P;D;P;D;D;D	0.91635	0.888;0.999;0.734;0.93;0.999;0.948	D	0.85928	0.1450	9	0.40728	T	0.16	.	19.854	0.96750	0.0:1.0:0.0:0.0	.	390;64;64;64;64;390	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	V	390;390;79;64;64;64;64;64	ENSP00000386043:A390V;ENSP00000346467:A390V;ENSP00000374653:A64V;ENSP00000393057:A64V;ENSP00000384373:A64V;ENSP00000385359:A64V;ENSP00000384091:A64V	ENSP00000346467:A390V	A	+	2	0	LTBP1	33213499	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.729000	0.84864	2.699000	0.92147	0.462000	0.41574	GCC	-	LTBP1	-	NULL		0.517	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	0	0		33	33		0.00		C	NM_206943		33359995	+1	10		28		tier1	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	26.32		SNP	1.000	T	10	28
CYP4B1	1580	genome.wustl.edu	37	1	47280916	47280916	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:47280916G>A	ENST00000271153.4	+	8	1086	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G	CYP4B1_ENST00000371919.4_Silent_p.G336G|CYP4B1_ENST00000452782.2_Silent_p.G188G|CYP4B1_ENST00000371923.4_Silent_p.G351G			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	350					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	AGATCCTAGGGGACCAGGACT	0.582													ENSG00000142973																																					0													84.0	74.0	77.0					1																	47280916		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1050G>A	1.37:g.47280916G>A			Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	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.G351	ENST00000271153.4	37	c.1053	CCDS542.1	1																																																																																			-	CYP4B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	0	0		22	22		0.00		G	NM_000779		47280916	+1	11		41		tier1	no_errors	ENST00000371923	ensembl	human	known	74_37	silent	21.15		SNP	0.574	A	11	41
WDFY3	23001	genome.wustl.edu	37	4	85701377	85701377	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:85701377G>A	ENST00000295888.4	-	26	4656	c.4249C>T	c.(4249-4251)Ctg>Ttg	p.L1417L	WDFY3_ENST00000322366.6_Silent_p.L1417L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1417					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATGGCCACCAGGCCCAGGATG	0.478													ENSG00000163625																																					0													110.0	102.0	105.0					4																	85701377		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4249C>T	4.37:g.85701377G>A			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1417	ENST00000295888.4	37	c.4249	CCDS3609.1	4																																																																																			-	WDFY3	-	NULL		0.478	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	0	0		56	56		0.00		G	NM_014991		85701377	-1	27		57		tier1	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	32.14		SNP	1.000	A	27	57
RASGRF2	5924	genome.wustl.edu	37	5	80422965	80422965	+	Missense_Mutation	SNP	G	G	A	rs542563671		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:80422965G>A	ENST00000265080.4	+	17	2736	c.2669G>A	c.(2668-2670)gGa>gAa	p.G890E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	890					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCTGCAGCAGGACATGGGAGT	0.498													ENSG00000113319																																					0													54.0	55.0	55.0					5																	80422965		2203	4300	6503	SO:0001583	missense	0			-	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2669G>A	5.37:g.80422965G>A	ENSP00000265080:p.Gly890Glu		B9EG89|Q9UK56	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.G890E	ENST00000265080.4	37	c.2669	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221375	0.79464	.	.	ENSG00000113319	ENST00000265080	T	0.75367	-0.93	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.100083	0.64402	D	0.000001	D	0.82416	0.5032	M	0.65975	2.015	0.53005	D	0.999961	D	0.89917	1.0	D	0.91635	0.999	T	0.76919	-0.2781	10	0.02654	T	1	.	16.9338	0.86198	0.0:0.0:1.0:0.0	.	890	O14827	RGRF2_HUMAN	E	890	ENSP00000265080:G890E	ENSP00000265080:G890E	G	+	2	0	RASGRF2	80458721	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.694000	0.74587	2.732000	0.93576	0.555000	0.69702	GGA	-	RASGRF2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N		0.498	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	0	0		31	31		0.00		G	NM_006909		80422965	+1	6		41		tier1	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	12.77		SNP	1.000	A	6	41
RFX6	222546	genome.wustl.edu	37	6	117203573	117203573	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:117203573G>A	ENST00000332958.2	+	4	564	c.548G>A	c.(547-549)gGa>gAa	p.G183E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	183					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGGCGGCTTGGAACAAGAGGC	0.393													ENSG00000185002																																					0													104.0	89.0	94.0					6																	117203573		2202	4300	6502	SO:0001583	missense	0			-	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.548G>A	6.37:g.117203573G>A	ENSP00000332208:p.Gly183Glu		Q5T6B3	Missense_Mutation	SNP	pfam_D-bd_RFX	p.G183E	ENST00000332958.2	37	c.548	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970633	0.92919	.	.	ENSG00000185002	ENST00000332958	D	0.95103	-3.61	5.67	5.67	0.87782	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.97736	0.9257	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98085	1.0406	10	0.87932	D	0	-15.816	19.7727	0.96373	0.0:0.0:1.0:0.0	.	183	Q8HWS3	RFX6_HUMAN	E	183	ENSP00000332208:G183E	ENSP00000332208:G183E	G	+	2	0	RFX6	117310266	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.588000	0.98232	2.689000	0.91719	0.650000	0.86243	GGA	-	RFX6	-	pfam_D-bd_RFX		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	0	0		72	72		0.00		G	NM_173560		117203573	+1	42		42		tier1	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	50.00		SNP	1.000	A	42	42
KIAA1614	57710	genome.wustl.edu	37	1	180905046	180905046	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:180905046C>T	ENST00000367588.4	+	5	2056	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	KIAA1614_ENST00000367587.1_Silent_p.L288L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	667										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGGCGGAGCTCCCTTGGGGCC	0.652													ENSG00000135835																																					0													43.0	48.0	46.0					1																	180905046		1955	4155	6110	SO:0001819	synonymous_variant	0			-	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2001C>T	1.37:g.180905046C>T			Q5VZ45|Q9HCF8	Silent	SNP	NULL	p.L667	ENST00000367588.4	37	c.2001	CCDS41442.1	1																																																																																			-	KIAA1614	-	NULL		0.652	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	0	0		39	39		0.00		C	XM_046531		180905046	+1	34		46		tier1	no_errors	ENST00000367588	ensembl	human	known	74_37	silent	42.50		SNP	0.001	T	34	46
RYR1	6261	genome.wustl.edu	37	19	38937392	38937392	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38937392G>A	ENST00000359596.3	+	9	784	c.784G>A	c.(784-786)Gag>Aag	p.E262K	RYR1_ENST00000355481.4_Missense_Mutation_p.E262K|RYR1_ENST00000360985.3_Missense_Mutation_p.E262K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	262	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGGAGGCTGGAGCCACTGAG	0.602													ENSG00000196218																																					0													38.0	38.0	38.0					19																	38937392		2203	4300	6503	SO:0001583	missense	0			-	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.784G>A	19.37:g.38937392G>A	ENSP00000352608:p.Glu262Lys		Q16314|Q16368|Q9NPK1|Q9P1U4	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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E262K	ENST00000359596.3	37	c.784	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612075	0.66672	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90844	-2.74;-2.74;-2.74	4.31	4.31	0.51392	MIR motif (2);MIR (2);	0.000000	0.64402	U	0.000004	D	0.95351	0.8491	M	0.85859	2.78	0.50632	D	0.999881	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	D	0.95956	0.8958	10	0.87932	D	0	.	14.3051	0.66380	0.0:0.0:1.0:0.0	.	262;262	P21817-2;P21817	.;RYR1_HUMAN	K	262	ENSP00000352608:E262K;ENSP00000347667:E262K;ENSP00000354254:E262K	ENSP00000347667:E262K	E	+	1	0	RYR1	43629232	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.215000	0.95146	2.242000	0.73789	0.563000	0.77884	GAG	-	RYR1	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	0	0		45	45		0.00		G			38937392	+1	5		35		tier1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	12.50		SNP	1.000	A	5	35
RIT1	6016	genome.wustl.edu	37	1	155874291	155874291	+	Silent	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:155874291T>A	ENST00000368323.3	-	5	444	c.240A>T	c.(238-240)gcA>gcT	p.A80A	RIT1_ENST00000368322.3_Silent_p.A97A|RIT1_ENST00000539040.1_Silent_p.A44A	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	80					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTGTAAACTCTGCCTAGAGGG	0.428													ENSG00000143622																																					0													73.0	62.0	66.0					1																	155874291		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.240A>T	1.37:g.155874291T>A			B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q83L	ENST00000368323.3	37	c.248	CCDS1123.1	1																																																																																			-	RIT1	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.428	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	0	0		51	51		0.00		T	NM_006912		155874291	-1	30		39		tier1	no_errors	ENST00000461050	ensembl	human	known	74_37	missense	43.48		SNP	1.000	A	30	39
ARHGAP19	84986	genome.wustl.edu	37	10	98988928	98988928	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:98988928C>T	ENST00000358531.4	-	11	1478	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.E484K|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.E484K|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.E455K|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.E475K|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.E475K|ARHGAP19_ENST00000487035.1_5'UTR	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	484					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TTCTTCCCTTCAGACCACTTC	0.363													ENSG00000269891																																					0													205.0	184.0	191.0					10																	98988928		2203	4300	6503	SO:0001583	missense	0			-	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1450G>A	10.37:g.98988928C>T	ENSP00000351333:p.Glu484Lys		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E484K	ENST00000358531.4	37	c.1450	CCDS7454.2	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944878	0.73672	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.10763	3.07;3.03;3.04;3.1;3.11;2.84	5.62	4.72	0.59763	.	0.358676	0.21975	U	0.066393	T	0.07818	0.0196	L	0.27053	0.805	0.30695	N	0.750959	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.14117	-1.0484	10	0.21014	T	0.42	-7.1488	10.2917	0.43599	0.0:0.9093:0.0:0.0907	.	455;484;475	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	K	484;484;475;484;475;303;455	ENSP00000414774:E484K;ENSP00000324468:E484K;ENSP00000347526:E475K;ENSP00000351333:E484K;ENSP00000360066:E475K;ENSP00000351058:E455K	ENSP00000324468:E484K	E	-	1	0	ARHGAP19	98978918	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.315000	0.43752	1.371000	0.46172	0.655000	0.94253	GAA	-	ARHGAP19-SLIT1	-	NULL		0.363	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19-SLIT1	HGNC	protein_coding	OTTHUMT00000049647.2	0	0		81	81		0.00		C	NM_032900		98988928	-1	13		60		tier1	no_errors	ENST00000453547	ensembl	human	known	74_37	missense	17.81		SNP	1.000	T	13	60
PLA2G4F	255189	genome.wustl.edu	37	15	42437881	42437881	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:42437881C>T	ENST00000382396.4	-	16	1759		c.e16-1		PLA2G4F_ENST00000397272.3_Splice_Site			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF						arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCCCACATACCTAAGGAGACA	0.642													ENSG00000168907																																					0													52.0	56.0	54.0					15																	42437881		2203	4299	6502	SO:0001630	splice_region_variant	0			-		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1673-1G>A	15.37:g.42437881C>T			Q6ZMC8	Splice_Site	SNP	-	e16-1	ENST00000382396.4	37	c.1679-1	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979374	0.53827	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2G4F	40225173	1.000000	0.71417	0.957000	0.39632	0.083000	0.17756	5.817000	0.69229	2.499000	0.84300	0.484000	0.47621	.	-	PLA2G4F	-	-		0.642	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	0	0		69	69		0.00		C	NM_213600	Intron	42437881	-1	42		33		tier1	no_errors	ENST00000397272	ensembl	human	known	74_37	splice_site	56.00		SNP	1.000	T	42	33
SIRPD	128646	genome.wustl.edu	37	20	1532496	1532496	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1532496C>T	ENST00000381623.3	-	2	1451	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SIRPD_ENST00000381621.1_Missense_Mutation_p.E88K			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	88	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TCTCCAATCTCTTTTACTCTG	0.453													ENSG00000125900																																					0													163.0	161.0	162.0					20																	1532496		2203	4300	6503	SO:0001583	missense	0			-	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.262G>A	20.37:g.1532496C>T	ENSP00000371036:p.Glu88Lys		B3KS88|Q5TFQ6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.E88K	ENST00000381623.3	37	c.262	CCDS13018.1	20	.	.	.	.	.	.	.	.	.	.	.	9.793	1.178534	0.21787	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.40476	4.35;1.03	4.03	-8.07	0.01098	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.566690	0.04258	N	0.339788	T	0.13114	0.0318	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20538	-1.0272	10	0.07030	T	0.85	.	6.4671	0.21987	0.0:0.1933:0.3296:0.4771	.	88	Q9H106	SIRPD_HUMAN	K	88	ENSP00000371036:E88K;ENSP00000371034:E88K	ENSP00000371034:E88K	E	-	1	0	SIRPD	1480496	0.000000	0.05858	0.000000	0.03702	0.532000	0.34746	-2.612000	0.00884	-1.808000	0.01234	-0.252000	0.11476	GAG	-	SIRPD	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.453	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPD	HGNC	protein_coding	OTTHUMT00000077552.1	0	0		79	79		0.00		C	NM_178460		1532496	-1	38		69		tier1	no_errors	ENST00000381623	ensembl	human	known	74_37	missense	35.51		SNP	0.000	T	38	69
KRT14	3861	genome.wustl.edu	37	17	39739349	39739349	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39739349C>T	ENST00000167586.6	-	7	1404	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	440	Interaction with Type I keratins and keratin filaments.|Tail.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTCTTACCATCTCTGGATGAC	0.582													ENSG00000186847																																					0													69.0	77.0	74.0					17																	39739349		2203	4300	6503	SO:0001583	missense	0			-	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1318G>A	17.37:g.39739349C>T	ENSP00000167586:p.Asp440Asn		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.D440N	ENST00000167586.6	37	c.1318	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671751	0.47781	.	.	ENSG00000186847	ENST00000167586	D	0.87809	-2.3	5.61	5.61	0.85477	.	0.380247	0.22426	N	0.060208	T	0.74168	0.3681	N	0.14661	0.345	0.46478	D	0.999068	P	0.40000	0.698	B	0.29862	0.108	T	0.74844	-0.3526	10	0.25106	T	0.35	.	15.499	0.75680	0.0:1.0:0.0:0.0	.	440	P02533	K1C14_HUMAN	N	440	ENSP00000167586:D440N	ENSP00000167586:D440N	D	-	1	0	KRT14	36992875	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	2.959000	0.49153	2.808000	0.96608	0.655000	0.94253	GAT	-	KRT14	-	NULL		0.582	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	0	0		43	43		0.00		C	NM_000526		39739349	-1	33		52		tier1	no_errors	ENST00000167586	ensembl	human	known	74_37	missense	38.82		SNP	1.000	T	33	52
FBXO46	23403	genome.wustl.edu	37	19	46216114	46216114	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:46216114C>T	ENST00000317683.3	-	2	773	c.640G>A	c.(640-642)Gga>Aga	p.G214R		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	214										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGTTCAGATCCCACCCCCTTG	0.692													ENSG00000177051																																					0													20.0	23.0	22.0					19																	46216114		2005	4143	6148	SO:0001583	missense	0			-	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.640G>A	19.37:g.46216114C>T	ENSP00000410007:p.Gly214Arg			Missense_Mutation	SNP	superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.G214R	ENST00000317683.3	37	c.640	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573329	0.28092	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	T	0.19846	0.0477	N	0.08118	0	0.23043	N	0.998387	B	0.27882	0.192	B	0.27076	0.076	T	0.08086	-1.0739	8	0.56958	D	0.05	-13.2192	8.1063	0.30887	0.0:0.8929:0.0:0.1071	.	214	Q6PJ61	FBX46_HUMAN	R	214	.	ENSP00000410007:G214R	G	-	1	0	FBXO46	50907954	0.527000	0.26306	0.951000	0.38953	0.079000	0.17450	2.144000	0.42197	2.278000	0.76064	0.563000	0.77884	GGA	-	FBXO46	-	NULL		0.692	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	0	0		55	55		0.00		C	XM_371179		46216114	-1	14		48		tier1	no_errors	ENST00000317683	ensembl	human	known	74_37	missense	22.58		SNP	0.714	T	14	48
PANX1	24145	genome.wustl.edu	37	11	93912979	93912979	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:93912979C>T	ENST00000227638.3	+	4	1142	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	PANX1_ENST00000436171.2_Silent_p.L253L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	253					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	ATCAGGGATCCTGAGAAACGA	0.478													ENSG00000110218																																					0													217.0	189.0	198.0					11																	93912979		2201	4298	6499	SO:0001819	synonymous_variant	0			-	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.757C>T	11.37:g.93912979C>T			O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Silent	SNP	pfam_Innexin,pfscan_Innexin	p.L253	ENST00000227638.3	37	c.757	CCDS8296.1	11																																																																																			-	PANX1	-	pfscan_Innexin		0.478	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANX1	HGNC	protein_coding	OTTHUMT00000396121.1	0	0		49	49		0.00		C	NM_015368		93912979	+1	13		37		tier1	no_errors	ENST00000227638	ensembl	human	known	74_37	silent	26.00		SNP	1.000	T	13	37
TBPL2	387332	genome.wustl.edu	37	14	55903529	55903529	+	Missense_Mutation	SNP	C	C	T	rs147025657	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:55903529C>T	ENST00000247219.5	-	2	428	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TCTTCAGTTTCGTGTTTGCTA	0.438													ENSG00000182521																																					0								C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	198.0	166.0	177.0		358	4.0	0.1	14	dbSNP_134	177	0,8600		0,0,4300	no	missense	TBPL2	NM_199047.2	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	120/376	55903529	3,13003	2203	4300	6503	SO:0001583	missense	0			-	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.358G>A	14.37:g.55903529C>T	ENSP00000247219:p.Glu120Lys			Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.E120K	ENST00000247219.5	37	c.358	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	C	7.599	0.672433	0.14776	6.81E-4	0.0	ENSG00000182521	ENST00000247219	T	0.44482	0.92	4.89	4.0	0.46444	.	1.866580	0.02113	N	0.054960	T	0.34250	0.0891	L	0.54323	1.7	0.09310	N	1	P	0.39094	0.659	B	0.27076	0.076	T	0.30060	-0.9991	10	0.14252	T	0.57	-1.9673	6.6816	0.23123	0.0:0.7865:0.0:0.2135	.	120	Q6SJ96	TBPL2_HUMAN	K	120	ENSP00000247219:E120K	ENSP00000247219:E120K	E	-	1	0	TBPL2	54973282	0.022000	0.18835	0.071000	0.20095	0.016000	0.09150	1.230000	0.32612	1.287000	0.44583	0.563000	0.77884	GAA	rs147025657	TBPL2	-	NULL		0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1	0	0		83	83		0.00		C	NM_199047		55903529	-1	21		37		tier1	no_errors	ENST00000247219	ensembl	human	known	74_37	missense	36.21		SNP	0.032	T	21	37
SHFM1	7979	genome.wustl.edu	37	7	96339125	96339125	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:96339125C>T	ENST00000248566.2	-	0	78				SHFM1_ENST00000413065.1_5'UTR|SHFM1_ENST00000417009.1_5'UTR|SHFM1_ENST00000444799.1_5'UTR	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1						double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AAGTTGGAACCCTCACTCTTC	0.547								Homologous recombination					ENSG00000127922																																					0													50.0	53.0	52.0					7																	96339125		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.-50G>A	7.37:g.96339125C>T			Q13437|Q61067	R	SNP	-	NULL	ENST00000248566.2	37	NULL	CCDS5646.1	7																																																																																			-	SHFM1	-	-		0.547	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHFM1	HGNC	protein_coding	OTTHUMT00000319595.1	0	0		45	45		0.00		C	NM_006304		96339125	-1	31		51		tier1	no_errors	ENST00000476463	ensembl	human	known	74_37	rna	37.80		SNP	0.000	T	31	51
OR2T6	254879	genome.wustl.edu	37	1	248551773	248551773	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248551773C>T	ENST00000355728.2	+	1	864	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAACCCTCTCATCTACAGTC	0.453													ENSG00000198104																																					0													83.0	82.0	82.0					1																	248551773		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.864C>T	1.37:g.248551773C>T			A6NE36	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L288	ENST00000355728.2	37	c.864	CCDS31114.1	1																																																																																			-	OR2T6	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.453	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	0	0		28	28		0.00		C	NM_001005471		248551773	+1	14		29		tier1	no_errors	ENST00000355728	ensembl	human	known	74_37	silent	31.82		SNP	0.133	T	14	29
TTN	7273	genome.wustl.edu	37	2	179638990	179638990	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179638990C>A	ENST00000591111.1	-	30	7225	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2288V|TTN_ENST00000460472.2_Missense_Mutation_p.G2288V|TTN_ENST00000589042.1_Missense_Mutation_p.G2334V|TTN_ENST00000342992.6_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2334V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2288V			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 12.				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)			GCTGTATTCTCCCTGGTCCTC	0.438													ENSG00000155657																																					0													152.0	139.0	143.0					2																	179638990		2203	4300	6503	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.7001G>T	2.37:g.179638990C>A	ENSP00000465570:p.Gly2334Val		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.G2334V	ENST00000591111.1	37	c.7001		2	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551960	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91375	0.7279	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92903	0.6341	9	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	2288;2288;2288;2334;2334	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2334;2288;2288;2288;2288;2334	ENSP00000343764:G2334V;ENSP00000434586:G2288V;ENSP00000340554:G2288V;ENSP00000352154:G2288V;ENSP00000354117:G2334V	ENSP00000340554:G2288V	G	-	2	0	TTN	179347235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.650000	0.89964	0.557000	0.71058	GGA	-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		27	27		0.00		C	NM_133378		179638990	-1	22		30		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	42.31		SNP	1.000	A	22	30
VAV1	7409	genome.wustl.edu	37	19	6850689	6850689	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6850689T>G	ENST00000602142.1	+	24	2220	c.2138T>G	c.(2137-2139)gTc>gGc	p.V713G	VAV1_ENST00000539284.1_Missense_Mutation_p.V616G|VAV1_ENST00000596764.1_Missense_Mutation_p.V681G|VAV1_ENST00000599806.1_Missense_Mutation_p.V658G|VAV1_ENST00000304076.2_Missense_Mutation_p.V691G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	713	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGATATAACGTCGAGGTCAAG	0.542													ENSG00000141968																																					0													88.0	79.0	82.0					19																	6850689		2203	4300	6503	SO:0001583	missense	0			-		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2138T>G	19.37:g.6850689T>G	ENSP00000472929:p.Val713Gly		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,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_SH3_domain,prints_SH2,prints_SM22_calponin	p.V713G	ENST00000602142.1	37	c.2138	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	T	7.628	0.678226	0.14841	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.58940	0.3	3.92	3.92	0.45320	SH2 motif (4);	0.287844	0.32769	N	0.005680	T	0.20536	0.0494	N	0.00289	-1.7	0.51767	D	0.999937	B;B;B;B	0.32188	0.002;0.359;0.0;0.01	B;B;B;B	0.37047	0.003;0.24;0.009;0.05	T	0.22941	-1.0202	10	0.10377	T	0.69	.	9.3587	0.38182	0.0:0.0:0.0:1.0	.	616;713;658;713	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	G	713;616	ENSP00000443242:V616G	ENSP00000302269:V713G	V	+	2	0	VAV1	6801689	0.999000	0.42202	0.980000	0.43619	0.867000	0.49689	3.216000	0.51176	1.780000	0.52325	0.459000	0.35465	GTC	-	VAV1	-	pfam_SH2,smart_SH2,pfscan_SH2		0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	0	0		34	34		0.00		T			6850689	+1	18		30		tier1	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	37.50		SNP	0.954	G	18	30
USH1C	10083	genome.wustl.edu	37	11	17544370	17544370	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:17544370G>A	ENST00000318024.4	-	12	1088	c.980C>T	c.(979-981)tCc>tTc	p.S327F	USH1C_ENST00000005226.7_Missense_Mutation_p.S327F|USH1C_ENST00000527020.1_Missense_Mutation_p.S308F|USH1C_ENST00000527720.1_Missense_Mutation_p.S296F	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	327					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GATCTTGTTGGACTCCATCGC	0.667													ENSG00000006611																																					0													27.0	31.0	30.0					11																	17544370		2200	4292	6492	SO:0001583	missense	0			-	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.980C>T	11.37:g.17544370G>A	ENSP00000317018:p.Ser327Phe		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S327F	ENST00000318024.4	37	c.980	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135149	0.56828	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.39997	1.72;1.71;1.95;1.05	5.04	4.13	0.48395	.	0.302185	0.35646	N	0.003072	T	0.38852	0.1056	N	0.14661	0.345	0.39148	D	0.962172	D;P;D	0.63880	0.958;0.855;0.993	P;B;P	0.54706	0.563;0.36;0.759	T	0.46693	-0.9173	10	0.87932	D	0	.	12.2594	0.54642	0.0:0.0:0.8295:0.1705	.	308;327;327	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	F	327;296;308;327	ENSP00000317018:S327F;ENSP00000432944:S296F;ENSP00000436934:S308F;ENSP00000005226:S327F	ENSP00000005226:S327F	S	-	2	0	USH1C	17500946	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	6.655000	0.74392	1.139000	0.42245	-0.372000	0.07161	TCC	-	USH1C	-	NULL		0.667	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	0	0		31	31		0.00		G	NM_005709		17544370	-1	23		29		tier1	no_errors	ENST00000005226	ensembl	human	known	74_37	missense	44.23		SNP	1.000	A	23	29
FAM198A	729085	genome.wustl.edu	37	3	43074081	43074081	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:43074081G>A	ENST00000430121.2	+	2	421	c.326G>A	c.(325-327)gGa>gAa	p.G109E	KRBOX1_ENST00000443313.1_Intron	NM_001129908.2	NP_001123380.2	Q9UFP1	F198A_HUMAN	family with sequence similarity 198, member A	109						extracellular region (GO:0005576)				endometrium(1)	1						GAGTCCCCAGGAGGGGACCTC	0.567													ENSG00000144649																																					0													69.0	68.0	68.0					3																	43074081		692	1591	2283	SO:0001583	missense	0			-	AL117530	CCDS46808.1	3p22.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000144649	ENSG00000144649			24485	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 41"""	C3orf41			Standard	NM_001129908		Approved	DKFZP434B172	uc003cmp.4	Q9UFP1	OTTHUMG00000156449	ENST00000430121.2:c.326G>A	3.37:g.43074081G>A	ENSP00000407301:p.Gly109Glu		B3KR48	Missense_Mutation	SNP	NULL	p.G109E	ENST00000430121.2	37	c.326	CCDS46808.1	3	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030536	0.54790	.	.	ENSG00000144649	ENST00000430121	T	0.25912	1.77	4.25	2.41	0.29592	.	0.625618	0.13035	N	0.418976	T	0.14399	0.0348	N	0.24115	0.695	0.09310	N	1	B	0.16802	0.019	B	0.15870	0.014	T	0.31110	-0.9955	9	.	.	.	-8.2633	5.3043	0.15795	0.1089:0.0:0.6904:0.2007	.	109	Q9UFP1	F198A_HUMAN	E	109	ENSP00000407301:G109E	.	G	+	2	0	FAM198A	43049085	0.002000	0.14202	0.000000	0.03702	0.141000	0.21300	0.208000	0.17415	0.351000	0.24027	0.585000	0.79938	GGA	-	FAM198A	-	NULL		0.567	FAM198A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM198A	HGNC	protein_coding	OTTHUMT00000344240.3	0	0		24	24		0.00		G	NM_001129908		43074081	+1	10		33		tier1	no_errors	ENST00000273146	ensembl	human	known	74_37	missense	23.26		SNP	0.000	A	10	33
U2SURP	23350	genome.wustl.edu	37	3	142720353	142720353	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:142720353C>T	ENST00000473835.2	+	0	0				U2SURP_ENST00000397933.2_5'Flank|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-91G21.1_ENST00000597953.1_lincRNA|U2SURP_ENST00000493598.2_5'Flank	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGGTCGCTATCTCGACAGTCG	0.617													ENSG00000241570																																					0																																										SO:0001631	upstream_gene_variant	0			-	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323		3.37:g.142720353C>T	Exception_encountered		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	R	SNP	-	NULL	ENST00000473835.2	37	NULL	CCDS46928.1	3																																																																																			-	RP11-372E1.6	-	-		0.617	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927832	Clone_based_vega_gene	protein_coding	OTTHUMT00000354603.2	0	0		38	38		0.00		C	NM_001080415		142720353	+1	10		37		tier1	no_errors	ENST00000595248	ensembl	human	known	74_37	rna	21.28		SNP	0.146	T	10	37
ATP8B3	148229	genome.wustl.edu	37	19	1787147	1787147	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:1787147G>A	ENST00000310127.6	-	25	3346	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	ATP8B3_ENST00000539485.1_Silent_p.L1046L|ATP8B3_ENST00000525591.1_Silent_p.L999L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1036					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGTACAGGAGGTTGAAAA	0.587													ENSG00000130270																																					0													55.0	59.0	57.0					19																	1787147		1923	4135	6058	SO:0001819	synonymous_variant	0			-	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3108C>T	19.37:g.1787147G>A			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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.L1046	ENST00000310127.6	37	c.3138	CCDS45901.1	19																																																																																			-	ATP8B3	-	NULL		0.587	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	0	0		56	56		0.00		G	NM_138813		1787147	-1	20		38		tier1	no_errors	ENST00000539485	ensembl	human	known	74_37	silent	34.48		SNP	0.057	A	20	38
SCNN1D	6339	genome.wustl.edu	37	1	1222294	1222294	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:1222294G>A	ENST00000338555.2	+	5	1710	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	SCNN1D_ENST00000379116.5_Missense_Mutation_p.R353Q|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R255Q|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R189Q			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	189					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CACCTGGACCGGGAGATCCGT	0.657													ENSG00000162572																																					0													32.0	41.0	38.0					1																	1222294		2191	4293	6484	SO:0001583	missense	0			-	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.566G>A	1.37:g.1222294G>A	ENSP00000339504:p.Arg189Gln		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R353Q	ENST00000338555.2	37	c.1058		1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253717	0.39797	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.69806	-0.43;-0.37;-0.42;-0.37	4.29	1.78	0.24846	.	1.359190	0.05360	U	0.533429	T	0.69015	0.3064	M	0.64260	1.97	0.21020	N	0.999807	P;B	0.47191	0.891;0.031	P;B	0.48921	0.595;0.003	T	0.51284	-0.8725	10	0.23891	T	0.37	.	7.5	0.27511	0.3645:0.0:0.6355:0.0	.	189;353	P51172;A6NNF7	SCNND_HUMAN;.	Q	220;353;189;255;189	ENSP00000368411:R353Q;ENSP00000339504:R189Q;ENSP00000321594:R255Q;ENSP00000383717:R189Q	ENSP00000321594:R255Q	R	+	2	0	SCNN1D	1212157	0.000000	0.05858	0.185000	0.23176	0.353000	0.29299	0.197000	0.17197	0.059000	0.16252	0.313000	0.20887	CGG	-	SCNN1D	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	0	0		35	35		0.00		G	NM_002978		1222294	+1	9		29		tier1	no_errors	ENST00000379116	ensembl	human	known	74_37	missense	23.68		SNP	0.390	A	9	29
SNTB1	6641	genome.wustl.edu	37	8	121706083	121706083	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:121706083C>T	ENST00000395601.3	-	3	1051	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	SNTB1_ENST00000517992.1_Missense_Mutation_p.E213K|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	213	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGAGGTGTTTCCCACCCAATC	0.537													ENSG00000172164																																					0													95.0	98.0	97.0					8																	121706083		2203	4300	6503	SO:0001583	missense	0			-	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.637G>A	8.37:g.121706083C>T	ENSP00000378965:p.Glu213Lys		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.E213K	ENST00000395601.3	37	c.637	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.157941	0.94686	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.56444	0.46;0.46	5.44	5.44	0.79542	Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	L	0.43598	1.365	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.63703	0.917;0.879	T	0.55736	-0.8094	10	0.25106	T	0.35	.	19.443	0.94831	0.0:1.0:0.0:0.0	.	213;213	Q13884;Q13884-2	SNTB1_HUMAN;.	K	213	ENSP00000378965:E213K;ENSP00000431124:E213K	ENSP00000378965:E213K	E	-	1	0	SNTB1	121775264	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.016000	0.76393	2.814000	0.96858	0.655000	0.94253	GAA	-	SNTB1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.537	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	0	0		102	102		0.00		C	NM_021021		121706083	-1	38		82		tier1	no_errors	ENST00000395601	ensembl	human	known	74_37	missense	31.15		SNP	1.000	T	38	82
TMIGD2	126259	genome.wustl.edu	37	19	4292720	4292720	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:4292720G>A	ENST00000301272.2	-	5	770	c.725C>T	c.(724-726)cCc>cTc	p.P242L	TMIGD2_ENST00000600349.1_Missense_Mutation_p.P70L|TMIGD2_ENST00000595645.1_Missense_Mutation_p.P238L|TMIGD2_ENST00000600114.1_Missense_Mutation_p.P122L	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	242	Pro-rich.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		tctcgggctggggcagggTCT	0.682													ENSG00000167664																																					0													28.0	36.0	33.0					19																	4292720		2198	4289	6487	SO:0001583	missense	0			-	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.725C>T	19.37:g.4292720G>A	ENSP00000301272:p.Pro242Leu		Q6UW59	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.P242L	ENST00000301272.2	37	c.725	CCDS12126.1	19	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.210722	0.00289	.	.	ENSG00000167664	ENST00000301272	T	0.32023	1.47	.	.	.	.	.	.	.	.	T	0.33990	0.0882	L	0.32530	0.975	0.09310	N	1	P;P	0.51449	0.945;0.909	P;P	0.59056	0.851;0.713	T	0.17684	-1.0361	7	0.45353	T	0.12	.	.	.	.	.	238;242	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	L	242	ENSP00000301272:P242L	ENSP00000301272:P242L	P	-	2	0	TMIGD2	4243720	0.719000	0.27986	0.079000	0.20413	0.038000	0.13279	0.089000	0.15002	0.088000	0.17205	0.089000	0.15464	CCC	-	TMIGD2	-	NULL		0.682	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMIGD2	HGNC	protein_coding	OTTHUMT00000458088.1	0	0		32	32		0.00		G	NM_144615		4292720	-1	9		33		tier1	no_errors	ENST00000301272	ensembl	human	known	74_37	missense	21.43		SNP	0.195	A	9	33
ATN1	1822	genome.wustl.edu	37	12	7043434	7043434	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:7043434C>T	ENST00000356654.4	+	3	360	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ATN1_ENST00000396684.2_Silent_p.S41S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	41					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCAGCACGTCCAGCAGTGATG	0.612													ENSG00000111676																																					0													59.0	63.0	61.0					12																	7043434		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.123C>T	12.37:g.7043434C>T			Q99495|Q99621|Q9UEK7	Silent	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.S41	ENST00000356654.4	37	c.123	CCDS31734.1	12																																																																																			-	ATN1	-	pfam_Atrophin-like		0.612	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	0	0		14	14		0.00		C	NM_001940		7043434	+1	5		13		tier1	no_errors	ENST00000356654	ensembl	human	known	74_37	silent	27.78		SNP	1.000	T	5	13
PAK3	5063	genome.wustl.edu	37	X	110366498	110366498	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:110366498G>A	ENST00000372010.1	+	5	609	c.167G>A	c.(166-168)gGg>gAg	p.G56E	PAK3_ENST00000262836.4_Missense_Mutation_p.G56E|PAK3_ENST00000417227.1_Missense_Mutation_p.G56E|PAK3_ENST00000519681.1_Missense_Mutation_p.G56E|PAK3_ENST00000372007.5_Missense_Mutation_p.G56E|PAK3_ENST00000518291.1_Missense_Mutation_p.G56E|PAK3_ENST00000360648.4_Missense_Mutation_p.G56E|PAK3_ENST00000425146.1_Missense_Mutation_p.G56E|PAK3_ENST00000446737.1_Missense_Mutation_p.G56E			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	56					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCAGGAGGAGGGGATAAAAGT	0.448										TSP Lung(19;0.15)			ENSG00000077264																																					0													68.0	66.0	67.0					X																	110366498		2203	4300	6503	SO:0001583	missense	0			-	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.167G>A	X.37:g.110366498G>A	ENSP00000361080:p.Gly56Glu		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.G56E	ENST00000372010.1	37	c.167	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831844	0.32421	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.71222	-0.51;-0.51;-0.51;-0.55;-0.51;-0.52;-0.52;-0.55;-0.51	5.39	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	N	0.14661	0.345	0.46631	D	0.999134	B;B;B;B	0.19583	0.018;0.037;0.005;0.036	B;B;B;B	0.28011	0.042;0.085;0.019;0.042	T	0.41520	-0.9504	10	0.06625	T	0.88	.	12.4239	0.55536	0.083:0.0:0.917:0.0	.	56;56;56;56	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	E	56	ENSP00000410853:G56E;ENSP00000401982:G56E;ENSP00000361080:G56E;ENSP00000429113:G56E;ENSP00000361077:G56E;ENSP00000428921:G56E;ENSP00000353864:G56E;ENSP00000389172:G56E;ENSP00000262836:G56E	ENSP00000262836:G56E	G	+	2	0	PAK3	110253154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.862000	0.75484	1.154000	0.42482	0.600000	0.82982	GGG	-	PAK3	-	NULL		0.448	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1	0	0		16	16		0.00		G	NM_002578		110366498	+1	24		13		tier1	no_errors	ENST00000360648	ensembl	human	known	74_37	missense	64.86		SNP	1.000	A	24	13
MCM3AP	8888	genome.wustl.edu	37	21	47669508	47669508	+	Intron	DEL	A	A	-			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47669508delA	ENST00000397708.1	-	21	4545				MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_Intron|MCM3AP_ENST00000291688.1_Intron|MCM3AP-AS1_ENST00000590829.1_RNA|AP001469.9_ENST00000430259.1_RNA|AP001469.7_ENST00000444966.1_RNA|AP001469.9_ENST00000447037.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCTTAAGGTATTTTGTTAAT	0.308													ENSG00000215424																																					0																																										SO:0001627	intron_variant	0				AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4290+1934T>-	21.37:g.47669508delA			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	R	DEL	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																				MCM3AP-AS1	-	-		0.308	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	HGNC	protein_coding	OTTHUMT00000207254.1	0	0		37	37		0.00		A	NM_003906		47669508	+1	15		39		tier1	no_errors	ENST00000414659	ensembl	human	known	74_37	rna	27.78		DEL	0.001	-	15	39
ZFAT	57623	genome.wustl.edu	37	8	135596114	135596114	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:135596114C>A	ENST00000377838.3	-	10	3022	c.2848G>T	c.(2848-2850)Ggg>Tgg	p.G950W	ZFAT_ENST00000520356.1_Missense_Mutation_p.G938W|ZFAT_ENST00000523399.1_Missense_Mutation_p.G888W|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Missense_Mutation_p.G938W|ZFAT_ENST00000429442.2_Missense_Mutation_p.G938W|ZFAT_ENST00000520214.1_Missense_Mutation_p.G938W	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	950					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCAGTGTCCCTTTTGATTTG	0.443													ENSG00000066827																																					0													168.0	151.0	156.0					8																	135596114		1960	4163	6123	SO:0001583	missense	0			-	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2848G>T	8.37:g.135596114C>A	ENSP00000367069:p.Gly950Trp		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G950W	ENST00000377838.3	37	c.2848	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587188	0.66105	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.277534	0.38326	N	0.001739	T	0.26484	0.0647	L	0.45698	1.435	0.34804	D	0.737064	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77557	0.955;0.99;0.936	T	0.13072	-1.0523	10	0.87932	D	0	-34.0567	14.0751	0.64885	0.0:0.9255:0.0:0.0745	.	888;938;950	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	W	938;938;938;950;938;837;888	ENSP00000427879:G938W;ENSP00000427831:G938W;ENSP00000394501:G938W;ENSP00000367069:G950W;ENSP00000428483:G938W;ENSP00000429091:G888W	ENSP00000326997:G837W	G	-	1	0	ZFAT	135665296	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.792000	0.38754	2.669000	0.90835	0.563000	0.77884	GGG	-	ZFAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	0	0		94	94		0.00		C	NM_001029939		135596114	-1	43		74		tier1	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	36.75		SNP	1.000	A	43	74
ZFYVE1	53349	genome.wustl.edu	37	14	73437767	73437767	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:73437767G>A	ENST00000556143.1	-	12	2877	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	ZFYVE1_ENST00000555072.1_Silent_p.L304L|ZFYVE1_ENST00000553891.1_Silent_p.L719L|ZFYVE1_ENST00000318876.5_Silent_p.L705L|ZFYVE1_ENST00000394207.2_Silent_p.L304L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	719					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGTGGCAGTGGAGGATTTCGT	0.612													ENSG00000165861																																					0													83.0	76.0	78.0					14																	73437767		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.2157C>T	14.37:g.73437767G>A			J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L719	ENST00000556143.1	37	c.2157	CCDS9811.1	14																																																																																			-	ZFYVE1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.612	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	0	0		21	21		0.00		G	NM_021260		73437767	-1	10		25		tier1	no_errors	ENST00000553891	ensembl	human	known	74_37	silent	27.78		SNP	0.986	A	10	25
MORN1	79906	genome.wustl.edu	37	1	2282810	2282810	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:2282810C>T	ENST00000378531.3	-	10	1210				RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1											breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCGAGGGTCCCTGGGCTCCTC	0.632													ENSG00000269896																																					0																																										SO:0001627	intron_variant	0			-	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1036+6060G>A	1.37:g.2282810C>T			A6NKZ6|Q8WW30|Q9H852	R	SNP	-	NULL	ENST00000378531.3	37	NULL	CCDS40.1	1																																																																																			-	RP4-740C4.6	-	-		0.632	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100129534	Clone_based_vega_gene	protein_coding	OTTHUMT00000004055.1	0	0		48	48		0.00		C	NM_024848		2282810	-1	8		39		tier1	no_errors	ENST00000602865	ensembl	human	known	74_37	rna	17.02		SNP	0.000	T	8	39
OR2L8	391190	genome.wustl.edu	37	1	248112520	248112520	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248112520C>T	ENST00000357191.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121C(2)|p.R121S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCTATGATCGTTACATTGC	0.443													ENSG00000196936																																					3	Substitution - Missense(3)	lung(3)											303.0	257.0	273.0					1																	248112520		2203	4300	6503	SO:0001583	missense	0			-	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.361C>T	1.37:g.248112520C>T	ENSP00000349719:p.Arg121Cys		Q6IF03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R121C	ENST00000357191.3	37	c.361	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	9.405	1.078897	0.20227	.	.	ENSG00000196936	ENST00000357191	T	0.77358	-1.09	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	N	0.355267	T	0.77363	0.4119	M	0.86343	2.81	0.43360	D	0.995436	B	0.34103	0.437	B	0.27170	0.077	T	0.79555	-0.1755	10	0.72032	D	0.01	.	11.1275	0.48328	0.0:1.0:0.0:0.0	.	121	Q8NGY9	OR2L8_HUMAN	C	121	ENSP00000349719:R121C	ENSP00000349719:R121C	R	+	1	0	OR2L8	246179143	0.522000	0.26266	0.049000	0.19019	0.036000	0.12997	0.737000	0.26144	0.905000	0.36596	0.479000	0.44913	CGT	-	OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	0	0		77	77		0.00		C			248112520	+1	15		87		tier1	no_errors	ENST00000357191	ensembl	human	known	74_37	missense	14.71		SNP	0.996	T	15	87
ACTR5	79913	genome.wustl.edu	37	20	37400343	37400343	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:37400343G>A	ENST00000243903.4	+	9	1745	c.1708G>A	c.(1708-1710)Gct>Act	p.A570T		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	570					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGAGCACTGTGCTTCCAACAT	0.562													ENSG00000101442																																					0													81.0	66.0	72.0					20																	37400343		2203	4300	6503	SO:0001583	missense	0			-	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1708G>A	20.37:g.37400343G>A	ENSP00000243903:p.Ala570Thr		Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.A570T	ENST00000243903.4	37	c.1708	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.135221	0.94517	.	.	ENSG00000101442	ENST00000243903	T	0.08102	3.13	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00036	-1.2253	10	0.33141	T	0.24	-17.857	20.6086	0.99469	0.0:0.0:1.0:0.0	.	570	Q9H9F9	ARP5_HUMAN	T	570	ENSP00000243903:A570T	ENSP00000243903:A570T	A	+	1	0	ACTR5	36833757	1.000000	0.71417	0.428000	0.26697	0.928000	0.56348	6.988000	0.76212	2.880000	0.98712	0.655000	0.94253	GCT	-	ACTR5	-	smart_Actin-related		0.562	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	0	0		21	21		0.00		G	NM_024855		37400343	+1	15		35		tier1	no_errors	ENST00000243903	ensembl	human	known	74_37	missense	30.00		SNP	1.000	A	15	35
TRPM5	29850	genome.wustl.edu	37	11	2443398	2443398	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:2443398C>T	ENST00000155858.6	-	2	279	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	TRPM5_ENST00000452833.1_Missense_Mutation_p.G91R|TRPM5_ENST00000528453.1_Missense_Mutation_p.G91R|TRPM5_ENST00000533060.1_Missense_Mutation_p.G91R	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCACCAGCCCCTTGCGCAGC	0.697													ENSG00000070985																									NSCLC(1;49 61 17205 18850 43201)												0													35.0	34.0	34.0					11																	2443398		2202	4296	6498	SO:0001583	missense	0			-	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.271G>A	11.37:g.2443398C>T	ENSP00000155858:p.Gly91Arg			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.G91R	ENST00000155858.6	37	c.271	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	c	20.4	3.991891	0.74703	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	2.79	2.79	0.32731	.	0.000000	0.64402	U	0.000008	T	0.44912	0.1316	M	0.88906	2.99	0.48975	D	0.999739	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.993;0.993;0.995	T	0.55623	-0.8112	10	0.87932	D	0	-30.1611	11.7816	0.52018	0.0:1.0:0.0:0.0	.	91;91;91	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	R	83;91;91;91;91;91	ENSP00000434383:G83R;ENSP00000155858:G91R;ENSP00000387965:G91R;ENSP00000434121:G91R;ENSP00000436809:G91R	ENSP00000155858:G91R	G	-	1	0	TRPM5	2399974	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.391000	0.66266	1.897000	0.54924	0.586000	0.80456	GGG	-	TRPM5	-	NULL		0.697	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	0	0		35	35		0.00		C	NM_014555		2443398	-1	17		46		tier1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	26.98		SNP	1.000	T	17	46
GNL1	2794	genome.wustl.edu	37	6	30522613	30522613	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:30522613G>A	ENST00000376621.3	-	4	1426	c.456C>T	c.(454-456)ttC>ttT	p.F152F	PRR3_ENST00000376557.3_5'Flank|PRR3_ENST00000376560.3_5'Flank	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	152					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GATAGTCTTGGAAGCTCCGTT	0.488													ENSG00000204590																																					0													114.0	82.0	93.0					6																	30522613		1511	2709	4220	SO:0001819	synonymous_variant	0			-		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.456C>T	6.37:g.30522613G>A			B0S838|Q96CT5	Silent	SNP	pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.F152	ENST00000376621.3	37	c.456	CCDS4680.1	6																																																																																			-	GNL1	-	NULL		0.488	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	HGNC	protein_coding	OTTHUMT00000076241.2	0	0		41	41		0.00		G			30522613	-1	14		25		tier1	no_errors	ENST00000376621	ensembl	human	known	74_37	silent	35.90		SNP	1.000	A	14	25
ENDOV	284131	genome.wustl.edu	37	17	78409984	78409984	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:78409984C>T	ENST00000518137.1	+	0	918				ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000518907.1_Nonsense_Mutation_p.R62*|ENDOV_ENST00000520284.1_Nonsense_Mutation_p.R62*|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000517795.1_3'UTR	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V						DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						cattcctgatcGAACGCGGTG	0.542								Direct reversal of damage					ENSG00000173818																																					0													97.0	80.0	85.0					17																	78409984		1568	3582	5150	SO:0001624	3_prime_UTR_variant	0			-		CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.*41C>T	17.37:g.78409984C>T			I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Nonsense_Mutation	SNP	pfam_Endonuclease-V	p.R62*	ENST00000518137.1	37	c.184	CCDS54172.1	17																																																																																			-	ENDOV	-	NULL		0.542	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENDOV	HGNC	protein_coding	OTTHUMT00000379487.1	0	0		33	33		0.00		C	NM_173627		78409984	+1	9		29		tier1	no_errors	ENST00000518907	ensembl	human	putative	74_37	nonsense	23.68		SNP	0.036	T	9	29
GPRC5A	9052	genome.wustl.edu	37	12	13061396	13061396	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:13061396C>T	ENST00000014914.5	+	2	1103	c.213C>T	c.(211-213)ttC>ttT	p.F71F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	71					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	AGTTTCTCTTCCTCCTGGGTG	0.572													ENSG00000013588																																					0													168.0	151.0	156.0					12																	13061396		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.213C>T	12.37:g.13061396C>T			B3KV45|O95357	Silent	SNP	pfam_GPCR_3_C	p.F71	ENST00000014914.5	37	c.213	CCDS8657.1	12																																																																																			-	GPRC5A	-	pfam_GPCR_3_C		0.572	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	HGNC	protein_coding	OTTHUMT00000400682.1	0	0		31	31		0.00		C			13061396	+1	7		34		tier1	no_errors	ENST00000014914	ensembl	human	known	74_37	silent	17.07		SNP	1.000	T	7	34
TICAM2	353376	genome.wustl.edu	37	5	114916909	114916909	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:114916909G>A	ENST00000427199.2	-	2	486	c.45C>T	c.(43-45)ctC>ctT	p.L15L	TICAM2_ENST00000513729.1_5'Flank|TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Intron|TICAM2_ENST00000408996.4_Intron	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	15					cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		TACCCCAAGAGAGAGAAAGAG	0.393													ENSG00000243414																																					0													89.0	91.0	91.0					5																	114916909		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.45C>T	5.37:g.114916909G>A			B3Y698|Q6JUT2	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,pfscan_TIR_dom	p.L15	ENST00000427199.2	37	c.45	CCDS4119.1	5																																																																																			-	TICAM2	-	NULL		0.393	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM2	HGNC	protein_coding	OTTHUMT00000338755.1	0	0		58	58		0.00		G	NM_021649		114916909	-1	25		49		tier1	no_errors	ENST00000427199	ensembl	human	known	74_37	silent	33.78		SNP	0.000	A	25	49
PPP1R13L	10848	genome.wustl.edu	37	19	45899667	45899667	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:45899667G>A	ENST00000418234.2	-	5	818	c.740C>T	c.(739-741)cCg>cTg	p.P247L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P247L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	247	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCAGGCTTTCGGAGGCCGCCG	0.657													ENSG00000104881																									Pancreas(61;1447 1663 31419 50578)												0													54.0	59.0	57.0					19																	45899667		2203	4300	6503	SO:0001583	missense	0			-	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.740C>T	19.37:g.45899667G>A	ENSP00000403902:p.Pro247Leu		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.P247L	ENST00000418234.2	37	c.740	CCDS33050.1	19	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353894	0.24512	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58210	0.35;0.35	4.31	4.31	0.51392	.	0.272597	0.36591	N	0.002504	T	0.53238	0.1784	N	0.12182	0.205	0.45704	D	0.998612	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.92	T	0.59161	-0.7506	10	0.56958	D	0.05	.	12.1596	0.54098	0.0:0.0:1.0:0.0	.	247;247	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	L	247	ENSP00000403902:P247L;ENSP00000354218:P247L	ENSP00000354218:P247L	P	-	2	0	PPP1R13L	50591507	0.966000	0.33281	0.998000	0.56505	0.116000	0.19942	0.734000	0.26101	2.238000	0.73509	0.561000	0.74099	CCG	-	PPP1R13L	-	NULL		0.657	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	0	0		96	96		0.00		G	NM_006663		45899667	-1	16		105		tier1	no_errors	ENST00000360957	ensembl	human	known	74_37	missense	13.22		SNP	0.996	A	16	105
PCDHGA2	56113	genome.wustl.edu	37	5	140719794	140719794	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140719794A>G	ENST00000394576.2	+	1	1256	c.1256A>G	c.(1255-1257)aAc>aGc	p.N419S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTTTACAACATCACTCTA	0.493													ENSG00000081853																																					0													74.0	74.0	74.0					5																	140719794		2203	4300	6503	SO:0001583	missense	0			-	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1256A>G	5.37:g.140719794A>G	ENSP00000378077:p.Asn419Ser		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N419S	ENST00000394576.2	37	c.1256	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	15.86	2.959220	0.53400	.	.	ENSG00000081853	ENST00000394576	T	0.01613	4.73	5.02	5.02	0.67125	Cadherin (5);Cadherin-like (1);	0.000000	0.44902	U	0.000404	T	0.09335	0.0230	M	0.73217	2.22	0.29605	N	0.847389	D;D	0.76494	0.999;0.997	D;D	0.72982	0.95;0.979	T	0.00487	-1.1710	10	0.66056	D	0.02	.	14.7064	0.69194	1.0:0.0:0.0:0.0	.	419;419	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	S	419	ENSP00000378077:N419S	ENSP00000378077:N419S	N	+	2	0	PCDHGA2	140699978	0.069000	0.21087	0.997000	0.53966	0.634000	0.38068	2.463000	0.45058	2.014000	0.59158	0.459000	0.35465	AAC	-	PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.493	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	0	0		38	38		0.00		A	NM_018915		140719794	+1	20		40		tier1	no_errors	ENST00000394576	ensembl	human	known	74_37	missense	33.33		SNP	1.000	G	20	40
MIR1261	100302228	genome.wustl.edu	37	11	90602360	90602360	+	RNA	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:90602360T>C	ENST00000408659.1	-	0	10					NR_031663.1				microRNA 1261																		gccaaagccttatccatagca	0.423													ENSG00000221586																																					0													107.0	99.0	101.0					11																	90602360		1566	3580	5146			0			-			11	2011-09-12		2008-12-18	ENSG00000221586	ENSG00000221586		"""ncRNAs / Micro RNAs"""	35327	non-coding RNA	RNA, micro				MIRN1261			Standard	NR_031663		Approved	hsa-mir-1261					11.37:g.90602360T>C				R	SNP	-	NULL	ENST00000408659.1	37	NULL		11																																																																																			-	MIR1261	-	-		0.423	MIR1261-201	KNOWN	basic	miRNA	MIR1261	HGNC	miRNA		0	0		42	42		0.00		T	NR_031663		90602360	-1	14		42		tier1	no_errors	ENST00000408659	ensembl	human	known	74_37	rna	25.00		SNP	0.002	C	14	42
BSND	7809	genome.wustl.edu	37	1	55472945	55472945	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55472945G>A	ENST00000371265.4	+	3	802	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	183					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AGCTGGCCCGGGTGAGTGCTT	0.637													ENSG00000162399																									Ovarian(191;1657 2078 22894 42033 48899)												0													57.0	53.0	55.0					1																	55472945		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.548+1G>A	1.37:g.55472945G>A			Q6NT28	Missense_Mutation	SNP	NULL	p.G183D	ENST00000371265.4	37	c.548	CCDS602.1	1	.	.	.	.	.	.	.	.	.	.	G	3.342	-0.134475	0.06711	.	.	ENSG00000162399	ENST00000371265	T	0.64991	-0.13	3.89	2.98	0.34508	.	0.800994	0.10874	N	0.624585	T	0.47192	0.1432	L	0.44542	1.39	0.28450	N	0.916389	B	0.06786	0.001	B	0.11329	0.006	T	0.41378	-0.9512	10	0.05436	T	0.98	-6.1532	7.7692	0.28997	0.1139:0.0:0.8861:0.0	.	183	Q8WZ55	BSND_HUMAN	D	183	ENSP00000360312:G183D	ENSP00000360312:G183D	G	+	2	0	BSND	55245533	0.987000	0.35691	0.782000	0.31804	0.008000	0.06430	2.215000	0.42862	1.223000	0.43536	-0.455000	0.05494	GGC	-	BSND	-	NULL		0.637	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	HGNC	protein_coding	OTTHUMT00000022213.4	0	0		86	86		0.00		G	NM_057176	Missense_Mutation	55472945	+1	36		74		tier1	no_errors	ENST00000371265	ensembl	human	known	74_37	missense	32.73		SNP	0.791	A	36	74
AC114776.3	0	genome.wustl.edu	37	2	111469902	111469902	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:111469902G>A	ENST00000414159.2	-	0	1644																											CAGGAGCTGGGGAAGACCTGT	0.567													ENSG00000235881																																					0													111.0	110.0	110.0					2																	111469902		692	1591	2283			0			-																													2.37:g.111469902G>A				R	SNP	-	NULL	ENST00000414159.2	37	NULL		2																																																																																			-	AC114776.3	-	-		0.567	AC114776.3-001	KNOWN	basic	lincRNA	ENSG00000235881	Clone_based_vega_gene	lincRNA	OTTHUMT00000331943.2	0	0		78	78		0.00		G			111469902	-1	16		76		tier1	no_errors	ENST00000414159	ensembl	human	known	74_37	rna	17.39		SNP	0.000	A	16	76
GABRR1	2569	genome.wustl.edu	37	6	89907897	89907897	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:89907897G>A	ENST00000454853.2	-	5	524	c.414C>T	c.(412-414)acC>acT	p.T138T	GABRR1_ENST00000369451.3_Silent_p.T51T|GABRR1_ENST00000435811.1_Silent_p.T121T	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	138					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGAGGTTGTTGGTGCTTGGAA	0.547													ENSG00000146276																																					0													328.0	301.0	310.0					6																	89907897		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.414C>T	6.37:g.89907897G>A			A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.T138	ENST00000454853.2	37	c.414	CCDS5019.2	6																																																																																			-	GABRR1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.547	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	0	0		72	72		0.00		G			89907897	-1	14		82		tier1	no_errors	ENST00000454853	ensembl	human	known	74_37	silent	14.58		SNP	1.000	A	14	82
SRCAP	10847	genome.wustl.edu	37	16	30740868	30740868	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30740868C>T	ENST00000262518.4	+	27	6487	c.6102C>T	c.(6100-6102)gaC>gaT	p.D2034D	SRCAP_ENST00000344771.4_Silent_p.D1876D|SRCAP_ENST00000395059.2_Silent_p.D1972D	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2034					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTTCCCTGACTTAAGACTCA	0.507													ENSG00000080603																																					0													139.0	124.0	129.0					16																	30740868		2197	4300	6497	SO:0001819	synonymous_variant	0			-	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6102C>T	16.37:g.30740868C>T			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_D-bd_motif,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.D2034	ENST00000262518.4	37	c.6102	CCDS10689.2	16																																																																																			-	SRCAP	-	superfamily_P-loop_NTPase		0.507	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	0	0		48	48		0.00		C	NM_006662		30740868	+1	14		48		tier1	no_errors	ENST00000262518	ensembl	human	known	74_37	silent	22.58		SNP	0.999	T	14	48
SCN10A	6336	genome.wustl.edu	37	3	38768108	38768108	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:38768108G>A	ENST00000449082.2	-	16	3075	c.3076C>T	c.(3076-3078)Ccc>Tcc	p.P1026S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1026					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTCCTTTGGGGATCACTTCC	0.542													ENSG00000185313																																					0													80.0	68.0	72.0					3																	38768108		2203	4300	6503	SO:0001583	missense	0			-	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3076C>T	3.37:g.38768108G>A	ENSP00000390600:p.Pro1026Ser		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.P1026S	ENST00000449082.2	37	c.3076	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	7.798	0.713100	0.15306	.	.	ENSG00000185313	ENST00000449082	D	0.95238	-3.65	3.84	3.84	0.44239	Sodium ion transport-associated (1);	5.141420	0.00166	N	0.000006	T	0.81978	0.4937	N	0.00339	-1.615	0.09310	N	1	B	0.14438	0.01	B	0.18263	0.021	T	0.74057	-0.3787	10	0.20519	T	0.43	.	9.0417	0.36322	0.1139:0.0:0.8861:0.0	.	1026	Q9Y5Y9	SCNAA_HUMAN	S	1026	ENSP00000390600:P1026S	ENSP00000390600:P1026S	P	-	1	0	SCN10A	38743112	0.558000	0.26554	0.013000	0.15412	0.315000	0.28087	3.337000	0.52120	2.449000	0.82847	0.655000	0.94253	CCC	-	SCN10A	-	pfam_Na_trans_assoc		0.542	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	0	0		21	21		0.00		G	NM_006514		38768108	-1	9		18		tier1	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	33.33		SNP	0.004	A	9	18
BATF2	116071	genome.wustl.edu	37	11	64757112	64757112	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:64757112C>T	ENST00000301887.4	-	3	444	c.314G>A	c.(313-315)gGg>gAg	p.G105E	BATF2_ENST00000435842.2_Missense_Mutation_p.G20E|BATF2_ENST00000527716.1_Missense_Mutation_p.G81E	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	105					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GCCCAGGAGCCCCTCAGCCTG	0.677													ENSG00000168062																																					0													19.0	19.0	19.0					11																	64757112		2197	4290	6487	SO:0001583	missense	0			-	AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"""basic leucine zipper proteins"""	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.314G>A	11.37:g.64757112C>T	ENSP00000301887:p.Gly105Glu		D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_D-bd,smart_bZIP,pfscan_bZIP	p.G105E	ENST00000301887.4	37	c.314	CCDS8087.1	11	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015515	0.19355	.	.	ENSG00000168062	ENST00000301887;ENST00000435842;ENST00000527716;ENST00000534177	T;T	0.41758	0.99;1.04	4.34	-5.65	0.02459	.	2.192410	0.02367	N	0.077498	T	0.20088	0.0483	N	0.14661	0.345	0.09310	N	1	B	0.19706	0.038	B	0.14578	0.011	T	0.35101	-0.9802	10	0.02654	T	1	2.5417	7.6366	0.28270	0.0:0.2955:0.119:0.5854	.	105	Q8N1L9	BATF2_HUMAN	E	105;20;81;104	ENSP00000301887:G105E;ENSP00000435640:G104E	ENSP00000301887:G105E	G	-	2	0	BATF2	64513688	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.535000	0.06142	-1.154000	0.02825	-0.300000	0.09419	GGG	-	BATF2	-	NULL		0.677	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF2	HGNC	protein_coding	OTTHUMT00000385478.2	0	0		43	43		0.00		C	NM_138456		64757112	-1	22		75		tier1	no_errors	ENST00000301887	ensembl	human	known	74_37	missense	22.68		SNP	0.000	T	22	75
TET1	80312	genome.wustl.edu	37	10	70405073	70405073	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:70405073C>T	ENST00000373644.4	+	4	2796	c.2587C>T	c.(2587-2589)Cca>Tca	p.P863S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	863					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						TGAGAATATACCAAGTAAAGA	0.388													ENSG00000138336																																					0													107.0	106.0	106.0					10																	70405073		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.2587C>T	10.37:g.70405073C>T	ENSP00000362748:p.Pro863Ser		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.P863S	ENST00000373644.4	37	c.2587	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	0.388	-0.924828	0.02377	.	.	ENSG00000138336	ENST00000373644	T	0.08984	3.03	5.88	0.726	0.18248	.	1.004080	0.08023	N	0.992273	T	0.06142	0.0159	L	0.27053	0.805	0.09310	N	1	B	0.23650	0.089	B	0.18561	0.022	T	0.41502	-0.9505	10	0.49607	T	0.09	.	5.1326	0.14919	0.2564:0.4525:0.2272:0.0639	.	863	Q8NFU7	TET1_HUMAN	S	863	ENSP00000362748:P863S	ENSP00000362748:P863S	P	+	1	0	TET1	70075079	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.397000	0.20883	-0.102000	0.12197	-0.153000	0.13522	CCA	-	TET1	-	NULL		0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	0	0		65	65		0.00		C	NM_030625		70405073	+1	13		29		tier1	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	30.95		SNP	0.010	T	13	29
TPST2	8459	genome.wustl.edu	37	22	26937024	26937024	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:26937024G>A	ENST00000338754.4	-	3	843	c.573C>T	c.(571-573)tcC>tcT	p.S191S	TPST2_ENST00000398110.2_Silent_p.S191S|TPST2_ENST00000403880.1_Silent_p.S191S	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	191					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						GCGTGATCATGGAGTGCACGG	0.597													ENSG00000128294																																					0													95.0	77.0	83.0					22																	26937024		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.573C>T	22.37:g.26937024G>A			B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S191	ENST00000338754.4	37	c.573	CCDS13839.1	22																																																																																			-	TPST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.597	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	0	0		60	60		0.00		G	NM_003595		26937024	-1	42		67		tier1	no_errors	ENST00000338754	ensembl	human	known	74_37	silent	38.53		SNP	1.000	A	42	67
CSMD3	114788	genome.wustl.edu	37	8	113299463	113299463	+	Missense_Mutation	SNP	C	C	T	rs150721502		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113299463C>T	ENST00000297405.5	-	58	9405	c.9161G>A	c.(9160-9162)gGg>gAg	p.G3054E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3014E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2885E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2984E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3054	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3054E(1)		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						GCCACATGTCCCAGTAGCATC	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			ENSG00000164796																																					1	Substitution - Missense(1)	skin(1)											104.0	96.0	99.0					8																	113299463		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.9161G>A	8.37:g.113299463C>T	ENSP00000297405:p.Gly3054Glu		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.G3054E	ENST00000297405.5	37	c.9161	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438590	0.83885	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25414	2.1;2.1;2.12;1.8;2.12	5.32	5.32	0.75619	Complement control module (1);Sushi/SCR/CCP (1);	0.068131	0.64402	D	0.000019	T	0.47525	0.1450	M	0.72894	2.215	0.58432	D	0.999996	P;P;P	0.48589	0.843;0.594;0.912	P;B;P	0.58873	0.487;0.231;0.847	T	0.18116	-1.0347	10	0.21540	T	0.41	.	19.4253	0.94739	0.0:1.0:0.0:0.0	.	2885;3054;3014	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	3014;3054;2324;2885;2984	ENSP00000345799:G3014E;ENSP00000297405:G3054E;ENSP00000341558:G2324E;ENSP00000412263:G2885E;ENSP00000343124:G2984E	ENSP00000297405:G3054E	G	-	2	0	CSMD3	113368639	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.828000	0.69307	2.661000	0.90470	0.644000	0.83932	GGG	rs150721502	CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	0	0		62	62		0.00		C	NM_052900		113299463	-1	18		58		tier1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	23.68		SNP	1.000	T	18	58
CXCR6	10663	genome.wustl.edu	37	3	45988819	45988819	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:45988819C>A	ENST00000458629.1	+	1	2309	c.846C>A	c.(844-846)tgC>tgA	p.C282*	CXCR6_ENST00000304552.4_Nonsense_Mutation_p.C282*|CXCR6_ENST00000438735.1_Nonsense_Mutation_p.C282*|CXCR6_ENST00000457814.1_Nonsense_Mutation_p.C282*|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	282					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGAGGGCCTGCCTTAACCCTG	0.502													ENSG00000172215																									Esophageal Squamous(63;1005 1117 15521 45762 47089)												0													120.0	101.0	107.0					3																	45988819		2203	4300	6503	SO:0001587	stop_gained	0			-	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.846C>A	3.37:g.45988819C>A	ENSP00000395704:p.Cys282*		O00575|Q9HCA5	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.C282*	ENST00000458629.1	37	c.846	CCDS2735.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009921	0.93346	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	.	.	.	5.96	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9544	0.47349	0.0:0.8503:0.0:0.1497	.	.	.	.	X	282	.	ENSP00000304414:C282X	C	+	3	2	CXCR6	45963823	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.542000	0.36137	1.542000	0.49330	-0.136000	0.14681	TGC	-	CXCR6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CXCR6	HGNC	protein_coding	OTTHUMT00000344395.1	0	0		58	58		0.00		C			45988819	+1	14		47		tier1	no_errors	ENST00000304552	ensembl	human	known	74_37	nonsense	22.95		SNP	1.000	A	14	47
SVEP1	79987	genome.wustl.edu	37	9	113209263	113209263	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113209263C>T	ENST00000401783.2	-	25	4514	c.4178G>A	c.(4177-4179)aGa>aAa	p.R1393K	SVEP1_ENST00000374469.1_Missense_Mutation_p.R1370K|SVEP1_ENST00000302728.8_Missense_Mutation_p.R1393K|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1393	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCCTGATTTCTACATGGATT	0.393													ENSG00000165124																																					0													67.0	67.0	67.0					9																	113209263		1835	3960	5795	SO:0001583	missense	0			-	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4178G>A	9.37:g.113209263C>T	ENSP00000384917:p.Arg1393Lys		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.R1393K	ENST00000401783.2	37	c.4178	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	6.376	0.437471	0.12104	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.82344	-1.6;-1.6;-1.6	5.85	-0.223	0.13118	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.363451	0.29948	N	0.010787	T	0.53948	0.1828	N	0.01874	-0.695	0.23336	N	0.997888	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.006	T	0.46925	-0.9156	10	0.25106	T	0.35	.	5.6223	0.17463	0.1784:0.4093:0.0:0.4123	.	1393;1393	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	K	1393;1370;1393	ENSP00000384917:R1393K;ENSP00000363593:R1370K;ENSP00000304118:R1393K	ENSP00000304118:R1393K	R	-	2	0	SVEP1	112249084	0.947000	0.32204	0.964000	0.40570	0.967000	0.64934	1.382000	0.34374	-0.067000	0.12976	-0.794000	0.03295	AGA	-	SVEP1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		0	0		33	33		0.00		C			113209263	-1	30		38		tier1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	44.12		SNP	0.947	T	30	38
SETD1A	9739	genome.wustl.edu	37	16	30978303	30978303	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:30978303G>A	ENST00000262519.8	+	9	3290	c.2604G>A	c.(2602-2604)aaG>aaA	p.K868K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	868					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTGGGCCAAGAGCGGGGGCA	0.597													ENSG00000099381																																					0													32.0	29.0	30.0					16																	30978303		2197	4300	6497	SO:0001819	synonymous_variant	0			-	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2604G>A	16.37:g.30978303G>A			A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.K868	ENST00000262519.8	37	c.2604	CCDS32435.1	16																																																																																			-	SETD1A	-	NULL		0.597	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	0	0		63	63		0.00		G	NM_014712		30978303	+1	34		53		tier1	no_errors	ENST00000262519	ensembl	human	known	74_37	silent	39.08		SNP	1.000	A	34	53
OR6C75	390323	genome.wustl.edu	37	12	55759635	55759635	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:55759635C>T	ENST00000343399.3	+	1	741	c.741C>T	c.(739-741)tcC>tcT	p.S247S		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	247						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(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TAGTTGTCTCCATCTCTTACA	0.418													ENSG00000187857																																					0													104.0	94.0	97.0					12																	55759635		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.741C>T	12.37:g.55759635C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S247	ENST00000343399.3	37	c.741	CCDS31820.1	12																																																																																			-	OR6C75	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	HGNC	protein_coding	OTTHUMT00000406418.1	0	0		35	35		0.00		C			55759635	+1	10		45		tier1	no_errors	ENST00000343399	ensembl	human	known	74_37	silent	18.18		SNP	0.186	T	10	45
PPFIA2	8499	genome.wustl.edu	37	12	81741332	81741332	+	Missense_Mutation	SNP	G	G	A	rs369038632		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:81741332G>A	ENST00000549396.1	-	18	2372	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	PPFIA2_ENST00000443686.3_Missense_Mutation_p.R639W|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R738W|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R738W|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R738W|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R720W|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R305W|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R585W|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R664W|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R720W	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	738					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTCCCATCCGATCCATTTCC	0.493													ENSG00000139220																																					0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,	0,3942		0,0,1971	136.0	137.0	137.0		2212,2158,2212,2212,1990,1915,913,2212,	3.7	1.0	12		137	1,8315		0,1,4157	no	missense,missense,missense,missense,missense,missense,missense,missense,intron	PPFIA2	NM_001220473.1,NM_001220474.1,NM_001220475.1,NM_001220476.1,NM_001220477.1,NM_001220478.1,NM_001220479.1,NM_003625.3,NM_001220480.1	101,101,101,101,101,101,101,101,	0,1,6128	AA,AG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	738/1248,720/1233,738/1237,738/1252,664/1157,639/1153,305/784,738/1258,	81741332	1,12257	1971	4158	6129	SO:0001583	missense	0			-	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2212C>T	12.37:g.81741332G>A	ENSP00000450337:p.Arg738Trp		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R738W	ENST00000549396.1	37	c.2212	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111049	0.77210	0.0	1.2E-4	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.25749	2.11;2.11;1.79;1.79;2.11;2.11;1.78;2.11	5.51	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55302	-0.8162	10	0.72032	D	0.01	-13.4321	14.6998	0.69147	0.0:0.0:0.6051:0.3949	.	738	O75334	LIPA2_HUMAN	W	738;720;305;664;749;720;738;639;738	ENSP00000450337:R738W;ENSP00000450298:R720W;ENSP00000438337:R305W;ENSP00000385093:R664W;ENSP00000327416:R720W;ENSP00000449338:R738W;ENSP00000388373:R639W;ENSP00000447868:R738W	ENSP00000327416:R720W	R	-	1	2	PPFIA2	80265463	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.448000	0.60027	0.771000	0.33359	-0.175000	0.13238	CGG	-	PPFIA2	-	NULL		0.493	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	0	0		59	59		0.00		G			81741332	-1	29		48		tier1	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	37.66		SNP	1.000	A	29	48
EEFSEC	60678	genome.wustl.edu	37	3	127981053	127981053	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:127981053C>T	ENST00000254730.6	+	3	661	c.607C>T	c.(607-609)Cca>Tca	p.P203S	EEFSEC_ENST00000483457.1_Missense_Mutation_p.P203S	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	203	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACAGGGCATTCCAGAGCTCAT	0.577													ENSG00000132394																																					0													82.0	92.0	89.0					3																	127981053		2203	4300	6503	SO:0001583	missense	0			-		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.607C>T	3.37:g.127981053C>T	ENSP00000254730:p.Pro203Ser		Q96HZ6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.P203S	ENST00000254730.6	37	c.607	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	C	6.000	0.368466	0.11352	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.69926	-0.44;-0.44	5.46	-2.79	0.05841	Protein synthesis factor, GTP-binding (1);	0.470827	0.24377	N	0.039060	T	0.38904	0.1058	N	0.12611	0.24	0.28271	N	0.924405	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.004	T	0.33752	-0.9856	10	0.08837	T	0.75	.	10.8203	0.46601	0.0:0.469:0.0:0.531	.	203;203	C9J8T0;P57772	.;SELB_HUMAN	S	203	ENSP00000254730:P203S;ENSP00000417660:P203S	ENSP00000254730:P203S	P	+	1	0	EEFSEC	129463743	0.582000	0.26749	0.777000	0.31699	0.010000	0.07245	0.144000	0.16135	-0.824000	0.04295	-0.302000	0.09304	CCA	-	EEFSEC	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase		0.577	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	HGNC	protein_coding	OTTHUMT00000356738.2	0	0		31	31		0.00		C	NM_021937		127981053	+1	23		32		tier1	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	41.82		SNP	0.532	T	23	32
PRDM15	63977	genome.wustl.edu	37	21	43243717	43243717	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:43243717A>T	ENST00000269844.3	-	21	2926	c.2816T>A	c.(2815-2817)tTc>tAc	p.F939Y	PRDM15_ENST00000398548.1_Missense_Mutation_p.F610Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.F573Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.F593Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.F630Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	939					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ATCCACGCGGAAGAACTTGCG	0.617													ENSG00000141956																																					0													92.0	66.0	74.0					21																	43243717		2203	4298	6501	SO:0001583	missense	0			-	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2816T>A	21.37:g.43243717A>T	ENSP00000269844:p.Phe939Tyr		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.F939Y	ENST00000269844.3	37	c.2816	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	a	23.0	4.366048	0.82463	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.13	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70640	0.3247	N	0.04655	-0.195	0.44323	D	0.997204	P;B;D	0.71674	0.489;0.136;0.998	B;B;D	0.79108	0.176;0.049;0.992	T	0.66232	-0.5975	9	0.17369	T	0.5	-29.1702	10.2714	0.43485	0.9212:0.0:0.0788:0.0	.	939;630;610	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	630;610;593;573;939	ENSP00000408592:F630Y;ENSP00000381556:F610Y;ENSP00000444044:F593Y;ENSP00000390245:F573Y;ENSP00000269844:F939Y	ENSP00000269844:F939Y	F	-	2	0	PRDM15	42116786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.917000	0.75782	0.904000	0.36572	0.454000	0.30748	TTC	-	PRDM15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		0	0		29	29		0.00		A	NM_022115		43243717	-1	14		32		tier1	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	29.79		SNP	1.000	T	14	32
TUNAR	100507043	genome.wustl.edu	37	14	96389202	96389202	+	lincRNA	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:96389202A>G	ENST00000503525.2	+	0	491					NR_038861.1																						AGGTCAAGAAAAAGAAAGTAA	0.413													ENSG00000250366																																					0																																												0			-																													14.37:g.96389202A>G				R	SNP	-	NULL	ENST00000503525.2	37	NULL		14																																																																																			-	LINC00617	-	-		0.413	LINC00617-002	KNOWN	basic	lincRNA	LINC00617	HGNC	lincRNA	OTTHUMT00000413257.1	0	0		66	66		0.00		A			96389202	+1	34		24		tier1	no_errors	ENST00000503525	ensembl	human	known	74_37	rna	58.62		SNP	1.000	G	34	24
MUC5B	727897	genome.wustl.edu	37	11	1256379	1256379	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1256379G>A	ENST00000529681.1	+	22	2753	c.2695G>A	c.(2695-2697)Ggg>Agg	p.G899R	MUC5B_ENST00000447027.1_Missense_Mutation_p.G902R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	899	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		CGTGGCCTACGGGGATGGCCA	0.652													ENSG00000117983																																					0													56.0	66.0	63.0					11																	1256379		2112	4216	6328	SO:0001583	missense	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.2695G>A	11.37:g.1256379G>A	ENSP00000436812:p.Gly899Arg		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	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.G902R	ENST00000529681.1	37	c.2704	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303726	0.40795	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.67523	-0.27;-0.27	4.37	4.37	0.52481	von Willebrand factor, type C (1);von Willebrand factor, type D domain (3);	.	.	.	.	D	0.87529	0.6200	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	1.0;1.0;1.0	D	0.91992	0.5604	9	0.87932	D	0	.	17.164	0.86810	0.0:0.0:1.0:0.0	.	899;1558;902	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	R	899;902;900;935	ENSP00000436812:G899R;ENSP00000415793:G902R	ENSP00000343037:G900R	G	+	1	0	MUC5B	1212955	1.000000	0.71417	0.493000	0.27502	0.359000	0.29487	6.635000	0.74295	2.270000	0.75569	0.555000	0.69702	GGG	-	MUC5B	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	0	0		35	35		0.00		G	XM_001126093		1256379	+1	14		45		tier1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	23.73		SNP	1.000	A	14	45
ZFP69B	65243	genome.wustl.edu	37	1	40928636	40928636	+	Missense_Mutation	SNP	G	G	A	rs137945908		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:40928636G>A	ENST00000411995.2	+	6	1355	c.980G>A	c.(979-981)aGa>aAa	p.R327K	ZFP69B_ENST00000361584.3_Missense_Mutation_p.R225K|ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	327					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)										CCGCATCAGAGAATTCATACT	0.413													ENSG00000187801																																					0													59.0	62.0	61.0					1																	40928636		2203	4300	6503	SO:0001583	missense	0			-	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.980G>A	1.37:g.40928636G>A	ENSP00000399664:p.Arg327Lys		Q5QPL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R327K	ENST00000411995.2	37	c.980	CCDS452.2	1	.	.	.	.	.	.	.	.	.	.	.	16.65	3.183285	0.57800	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.02197	4.4;4.4	3.13	3.13	0.36017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	L	0.33339	1.005	0.29088	N	0.882291	D	0.67145	0.996	D	0.74023	0.982	T	0.18209	-1.0344	9	0.54805	T	0.06	.	12.4855	0.55871	0.0:0.0:1.0:0.0	.	327	Q9UJL9	ZN643_HUMAN	K	258;327;225	ENSP00000399664:R327K;ENSP00000354547:R225K	ENSP00000354547:R225K	R	+	2	0	ZNF643	40701223	0.764000	0.28473	1.000000	0.80357	0.995000	0.86356	2.199000	0.42715	2.047000	0.60756	0.585000	0.79938	AGA	-	ZFP69B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP69B	HGNC	protein_coding	OTTHUMT00000019078.2	0	0		41	41		0.00		G	NM_023070		40928636	+1	20		47		tier1	no_errors	ENST00000411995	ensembl	human	known	74_37	missense	29.41		SNP	1.000	A	20	47
FCGR1A	2209	genome.wustl.edu	37	1	149755507	149755507	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:149755507C>T	ENST00000369168.4	+	3	106				RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|FCGR1A_ENST00000489479.1_3'UTR|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)						antibody-dependent cellular cytotoxicity (GO:0001788)|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)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGAGCCCTCCCCTTTACTC	0.418													ENSG00000150337																																					0													1.0	1.0	1.0					1																	149755507		136	365	501	SO:0001627	intron_variant	0			-	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.53-52C>T	1.37:g.149755507C>T			P12315|Q5QNW7|Q92495|Q92663	R	SNP	-	NULL	ENST00000369168.4	37	NULL	CCDS933.1	1																																																																																			-	FCGR1A	-	-		0.418	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	HGNC	protein_coding	OTTHUMT00000033446.1	0	0		15	15		0.00		C	NM_000566		149755507	+1	15		15		tier1	no_errors	ENST00000489479	ensembl	human	known	74_37	rna	50.00		SNP	0.000	T	15	15
WDR11	55717	genome.wustl.edu	37	10	122659643	122659643	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:122659643C>T	ENST00000263461.6	+	20	2864	c.2618C>T	c.(2617-2619)tCt>tTt	p.S873F	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						TTGGACATTTCTCATGTGTAA	0.428													ENSG00000120008																																					0													175.0	161.0	166.0					10																	122659643		2203	4300	6503	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.2618C>T	10.37:g.122659643C>T	ENSP00000263461:p.Ser873Phe		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S873F	ENST00000263461.6	37	c.2618	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692902	0.30052	.	.	ENSG00000120008	ENST00000263461	D	0.90676	-2.71	5.75	4.85	0.62838	.	0.271190	0.39759	N	0.001276	T	0.79902	0.4526	N	0.08118	0	0.36653	D	0.87752	B;B;B;B	0.29805	0.0;0.0;0.006;0.257	B;B;B;B	0.24541	0.0;0.0;0.005;0.054	T	0.81709	-0.0809	10	0.72032	D	0.01	-11.4123	11.3101	0.49358	0.0:0.8442:0.0:0.1558	.	873;873;164;402	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	F	873	ENSP00000263461:S873F	ENSP00000263461:S873F	S	+	2	0	WDR11	122649633	0.999000	0.42202	0.981000	0.43875	0.347000	0.29111	2.531000	0.45650	1.447000	0.47661	0.644000	0.83932	TCT	-	WDR11	-	NULL		0.428	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	0	0		35	35		0.00		C			122659643	+1	12		26		tier1	no_errors	ENST00000263461	ensembl	human	known	74_37	missense	31.58		SNP	0.963	T	12	26
GUCY1B3	2983	genome.wustl.edu	37	4	156698696	156698696	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:156698696C>T	ENST00000264424.8	+	4	281	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	GUCY1B3_ENST00000507146.1_5'UTR|GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000505154.1_5'UTR|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.L47F|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.L67F|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.L67F	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	67					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TGGAGAAATCCTCCAAATGTT	0.338													ENSG00000061918																																					0													148.0	136.0	140.0					4																	156698696		1823	4076	5899	SO:0001583	missense	0			-	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.199C>T	4.37:g.156698696C>T	ENSP00000264424:p.Leu67Phe		B7Z426|Q86WY5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L67F	ENST00000264424.8	37	c.199	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935572	0.73442	.	.	ENSG00000061918	ENST00000502959;ENST00000505764;ENST00000264424;ENST00000503520	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.11	5.11	0.69529	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.069687	0.64402	D	0.000019	T	0.72153	0.3425	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.991	D;D;D;D	0.97110	1.0;1.0;1.0;0.951	T	0.73717	-0.3895	10	0.44086	T	0.13	.	18.9056	0.92460	0.0:1.0:0.0:0.0	.	47;67;67;67	B7Z426;E9PCN2;Q02153-2;Q02153	.;.;.;GCYB1_HUMAN	F	67;47;67;67	ENSP00000426786:L67F;ENSP00000426319:L47F;ENSP00000264424:L67F;ENSP00000420842:L67F	ENSP00000264424:L67F	L	+	1	0	GUCY1B3	156918146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.603000	0.54074	2.540000	0.85666	0.591000	0.81541	CTC	-	GUCY1B3	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd		0.338	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	0	0		60	60		0.00		C			156698696	+1	23		57		tier1	no_errors	ENST00000264424	ensembl	human	known	74_37	missense	28.75		SNP	1.000	T	23	57
ZNRF2P2	100271874	genome.wustl.edu	37	7	29690807	29690807	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:29690807C>T	ENST00000426767.1	-	0	514					NR_024278.1				zinc and ring finger 2 pseudogene 2																		CCCATTAGTTCTTGTTTTAAA	0.408													ENSG00000225264																																					0																																												0			-			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29690807C>T				R	SNP	-	NULL	ENST00000426767.1	37	NULL		7																																																																																			-	ZNRF2P2	-	-		0.408	ZNRF2P2-003	KNOWN	basic	processed_transcript	ZNRF2P2	HGNC	pseudogene	OTTHUMT00000327679.1	0	0		9	9		0.00		C	NR_027347		29690807	-1	5		6		tier1	no_errors	ENST00000426767	ensembl	human	known	74_37	rna	45.45		SNP	0.122	T	5	6
PLBD1	79887	genome.wustl.edu	37	12	14689593	14689593	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:14689593C>T	ENST00000240617.5	-	5	1262	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	204					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GGAATCAGATCCAATAGATCT	0.438													ENSG00000121316																																					0													155.0	140.0	145.0					12																	14689593		2203	4300	6503	SO:0001583	missense	0			-	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.610G>A	12.37:g.14689593C>T	ENSP00000240617:p.Asp204Asn		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.D204N	ENST00000240617.5	37	c.610	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384203	0.82792	.	.	ENSG00000121316	ENST00000240617	T	0.42131	0.98	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78368	-0.2231	10	0.87932	D	0	-22.6693	17.1314	0.86727	0.0:1.0:0.0:0.0	.	204	Q6P4A8	PLBL1_HUMAN	N	204	ENSP00000240617:D204N	ENSP00000240617:D204N	D	-	1	0	PLBD1	14580860	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	6.734000	0.74801	2.785000	0.95823	0.591000	0.81541	GAT	-	PLBD1	-	pfam_PLipase_B-like		0.438	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	0	0		84	84		0.00		C	NM_024829		14689593	-1	14		70		tier1	no_errors	ENST00000240617	ensembl	human	known	74_37	missense	16.67		SNP	1.000	T	14	70
MYOM3	127294	genome.wustl.edu	37	1	24432456	24432456	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:24432456G>A	ENST00000374434.3	-	5	676	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	MYOM3_ENST00000329601.7_Silent_p.L172L|MYOM3_ENST00000330966.7_Silent_p.L173L|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	172	Ig-like C2-type 1.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAGGTCAGCAGGACCGTGGTG	0.667													ENSG00000142661																																					0													52.0	63.0	60.0					1																	24432456		2074	4201	6275	SO:0001819	synonymous_variant	0			-	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.514C>T	1.37:g.24432456G>A			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	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.L173	ENST00000374434.3	37	c.517	CCDS41281.1	1																																																																																			-	MYOM3	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.667	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	0	0		34	34		0.00		G	NM_152372		24432456	-1	17		37		tier1	no_errors	ENST00000330966	ensembl	human	known	74_37	silent	31.48		SNP	1.000	A	17	37
CHD6	84181	genome.wustl.edu	37	20	40192714	40192714	+	Intron	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:40192714A>T	ENST00000373233.3	-	2	155				CHD6_ENST00000309279.7_Intron|CHD6_ENST00000373222.3_Missense_Mutation_p.I25K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				tgggcaacttatttgatctcc	0.398													ENSG00000124177																																					0													47.0	44.0	45.0					20																	40192714		876	1991	2867	SO:0001627	intron_variant	0			-	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.23-12715T>A	20.37:g.40192714A>T			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	NULL	p.I25K	ENST00000373233.3	37	c.74	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	A	10.59	1.392555	0.25118	.	.	ENSG00000124177	ENST00000373222	D	0.81659	-1.52	3.43	1.06	0.20224	.	.	.	.	.	T	0.68320	0.2988	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58572	-0.7613	8	0.72032	D	0.01	.	4.0576	0.09824	0.5703:0.219:0.0:0.2107	.	25	Q8TD26-2	.	K	25	ENSP00000362319:I25K	ENSP00000362319:I25K	I	-	2	0	CHD6	39626128	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.423000	0.21313	0.187000	0.20147	-0.313000	0.08912	ATA	-	CHD6	-	NULL		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	0	0		88	88		0.00		A			40192714	-1	27		74		tier1	no_errors	ENST00000373222	ensembl	human	known	74_37	missense	26.73		SNP	0.000	T	27	74
XRCC6	2547	genome.wustl.edu	37	22	42018077	42018077	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:42018077C>T	ENST00000359308.4	+	1	724	c.69C>T	c.(67-69)aaC>aaT	p.N23N	XRCC6_ENST00000405506.1_Missense_Mutation_p.T11I|DESI1_ENST00000263256.6_5'Flank|XRCC6_ENST00000402580.3_Silent_p.N23N|XRCC6_ENST00000360079.3_Silent_p.N23N|XRCC6_ENST00000405878.1_Silent_p.N23N|XRCC6_ENST00000428575.2_5'UTR			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	23	Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AAGAAGAGAACCTTGAAGCAA	0.478								Non-homologous end-joining					ENSG00000196419																																					0													214.0	181.0	192.0					22																	42018077		2203	4300	6503	SO:0001819	synonymous_variant	0			-	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.69C>T	22.37:g.42018077C>T			B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70	p.T11I	ENST00000359308.4	37	c.32	CCDS14021.1	22	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838045	0.50951	.	.	ENSG00000196419	ENST00000405506	.	.	.	5.36	3.18	0.36537	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.19300	N	0.999971	B	0.14012	0.009	B	0.19666	0.026	T	0.14755	-1.0461	7	0.35671	T	0.21	-0.5607	3.2962	0.06966	0.1494:0.5356:0.2168:0.0982	.	11	B1AHC9	.	I	11	.	ENSP00000384082:T11I	T	+	2	0	XRCC6	40348023	0.101000	0.21875	0.025000	0.17156	0.338000	0.28826	0.664000	0.25068	1.257000	0.44085	0.655000	0.94253	ACC	-	XRCC6	-	pirsf_Ku70		0.478	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	0	0		77	77		0.00		C	NM_001469		42018077	+1	43		63		tier1	no_errors	ENST00000405506	ensembl	human	putative	74_37	missense	40.57		SNP	0.033	T	43	63
MAN2C1	4123	genome.wustl.edu	37	15	75658862	75658862	+	Splice_Site	SNP	C	C	T	rs138736683	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:75658862C>T	ENST00000267978.5	-	4	469		c.e4+1		MAN2C1_ENST00000563539.1_Splice_Site|MAN2C1_ENST00000563622.1_Splice_Site|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000565683.1_Splice_Site|MAN2C1_ENST00000569482.1_Splice_Site	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1						mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGGGACTCACCTTCGGGGGT	0.577													ENSG00000140400																																					0								C		0,4394		0,0,2197	53.0	42.0	45.0			3.7	1.0	15	dbSNP_134	45	4,8584	3.7+/-12.6	0,4,4290	yes	splice-5	MAN2C1	NM_006715.2		0,4,6487	TT,TC,CC		0.0466,0.0,0.0308			75658862	4,12978	2197	4294	6491	SO:0001630	splice_region_variant	0			-	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.422+1G>A	15.37:g.75658862C>T			H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Splice_Site	SNP	-	e4+1	ENST00000267978.5	37	c.422+1	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154330	0.21371	0.0	4.66E-4	ENSG00000140400	ENST00000267978;ENST00000421803	.	.	.	4.63	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4455	0.50120	0.1805:0.8195:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAN2C1	73445915	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	6.939000	0.75911	0.922000	0.37019	-0.515000	0.04445	.	rs138736683	MAN2C1	-	-		0.577	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	0	0		40	40		0.00		C		Intron	75658862	-1	7		19		tier1	no_errors	ENST00000267978	ensembl	human	known	74_37	splice_site	26.92		SNP	1.000	T	7	19
PRRC2C	23215	genome.wustl.edu	37	1	171511038	171511038	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:171511038C>T	ENST00000338920.4	+	16	4664	c.4427C>T	c.(4426-4428)tCc>tTc	p.S1476F	PRRC2C_ENST00000367742.3_Missense_Mutation_p.S1478F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S1478F|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S1476F	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1476					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.S1478F(1)									GGGGATATTTCCGGGAATAAG	0.423													ENSG00000117523																																					1	Substitution - Missense(1)	large_intestine(1)											65.0	69.0	67.0					1																	171511038		2203	4300	6503	SO:0001583	missense	0			-	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4427C>T	1.37:g.171511038C>T	ENSP00000343629:p.Ser1476Phe		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.S1478F	ENST00000338920.4	37	c.4433	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.66|11.66	1.704975|1.704975	0.30232|0.30232	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.02140	.|4.43;4.43;4.43;4.43	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.46145	.|D	.|0.000316	T|T	0.07143|0.07143	0.0181|0.0181	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999996|0.999996	.|D	.|0.71674	.|0.998	.|D	.|0.64877	.|0.93	T|T	0.12863|0.12863	-1.0531|-1.0531	5|10	.|0.72032	.|D	.|0.01	.|.	19.7924|19.7924	0.96464|0.96464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1476	.|Q9Y520-4	.|.	S|F	24|1478;1477;1476;1478;1476;1233	.|ENSP00000375928:S1478F;ENSP00000410219:S1476F;ENSP00000356716:S1478F;ENSP00000343629:S1476F	.|ENSP00000343629:S1476F	P|S	+|+	1|2	0|0	PRRC2C|PRRC2C	169777662|169777662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	6.728000|6.728000	0.74769|0.74769	2.660000|2.660000	0.90430|0.90430	0.650000|0.650000	0.86243|0.86243	CCG|TCC	-	PRRC2C	-	NULL		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	0	0		22	22		0.00		C	NM_015172		171511038	+1	15		31		tier1	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	32.61		SNP	1.000	T	15	31
ASAP1	50807	genome.wustl.edu	37	8	131129212	131129212	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:131129212C>T	ENST00000518721.1	-	21	2137	c.1910G>A	c.(1909-1911)gGa>gAa	p.G637E	ASAP1_ENST00000357668.1_Missense_Mutation_p.G637E	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	637					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTGTGTTTCCCAGGGCCGT	0.383													ENSG00000153317																																					0													97.0	96.0	97.0					8																	131129212		2203	4300	6503	SO:0001583	missense	0			-	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1910G>A	8.37:g.131129212C>T	ENSP00000429900:p.Gly637Glu		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.G637E	ENST00000518721.1	37	c.1910	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.166732	0.94768	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.73575	-0.76;-0.76	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	0.053704	0.85682	D	0.000000	D	0.88451	0.6440	M	0.87682	2.9	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	0.90092	0.4178	10	0.87932	D	0	.	18.385	0.90464	0.0:1.0:0.0:0.0	.	637;637;640	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	E	640;637;637	ENSP00000350297:G637E;ENSP00000429900:G637E	ENSP00000344591:G640E	G	-	2	0	ASAP1	131198394	1.000000	0.71417	0.965000	0.40720	0.972000	0.66771	7.770000	0.85390	2.587000	0.87381	0.655000	0.94253	GGA	-	ASAP1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.383	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	0	0		59	59		0.00		C	NM_018482		131129212	-1	12		41		tier1	no_errors	ENST00000357668	ensembl	human	known	74_37	missense	22.64		SNP	1.000	T	12	41
CACNA1D	776	genome.wustl.edu	37	3	53845286	53845286	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:53845286C>T	ENST00000350061.5	+	48	6850	c.6339C>T	c.(6337-6339)ccC>ccT	p.P2113P	CACNA1D_ENST00000288139.4_Silent_p.P2133P|CACNA1D_ENST00000422281.2_Silent_p.P2089P|CACNA1D_ENST00000544977.1_3'UTR	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2113					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGTGCGTCCCCGAGCCAACG	0.592													ENSG00000157388																																					0													83.0	80.0	81.0					3																	53845286		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6339C>T	3.37:g.53845286C>T			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.P2133	ENST00000350061.5	37	c.6399	CCDS46848.1	3																																																																																			-	CAC1D	-	NULL		0.592	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAC1D	HGNC	protein_coding	OTTHUMT00000350557.1	0	0		34	34		0.00		C	NM_000720		53845286	+1	6		20		tier1	no_errors	ENST00000288139	ensembl	human	known	74_37	silent	23.08		SNP	0.975	T	6	20
CALHM1	255022	genome.wustl.edu	37	10	105215167	105215167	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:105215167G>A	ENST00000329905.5	-	2	1029	c.893C>T	c.(892-894)aCc>aTc	p.T298I	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	298					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCTGTTCATGGTGCCTTGATC	0.677													ENSG00000185933																																					0													78.0	59.0	65.0					10																	105215167		2203	4300	6503	SO:0001583	missense	0			-	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.893C>T	10.37:g.105215167G>A	ENSP00000329926:p.Thr298Ile		Q5W091	Missense_Mutation	SNP	NULL	p.T298I	ENST00000329905.5	37	c.893	CCDS7550.1	10	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362075	0.41902	.	.	ENSG00000185933	ENST00000329905	T	0.18657	2.2	4.8	3.89	0.44902	.	0.582602	0.19409	N	0.114992	T	0.23611	0.0571	L	0.51422	1.61	0.43750	D	0.996257	B	0.25441	0.126	B	0.26864	0.074	T	0.05370	-1.0889	10	0.59425	D	0.04	-26.8539	15.4806	0.75524	0.0:0.139:0.861:0.0	.	298	Q8IU99	CAHM1_HUMAN	I	298	ENSP00000329926:T298I	ENSP00000329926:T298I	T	-	2	0	CALHM1	105205157	0.997000	0.39634	0.743000	0.31040	0.534000	0.34807	3.818000	0.55678	1.126000	0.42016	0.462000	0.41574	ACC	-	CALHM1	-	NULL		0.677	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM1	HGNC	protein_coding	OTTHUMT00000050165.1	0	0		44	44		0.00		G	NM_001001412		105215167	-1	11		36		tier1	no_errors	ENST00000329905	ensembl	human	known	74_37	missense	22.45		SNP	0.961	A	11	36
LOC101927533	101927533	genome.wustl.edu	37	2	65894475	65894475	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:65894475G>A	ENST00000377977.3	+	0	862				AC007389.4_ENST00000583614.1_RNA																							TGGAGCTGCTGAGATGATGCT	0.552													ENSG00000265899																																					0																																												0			-																													2.37:g.65894475G>A				R	SNP	-	NULL	ENST00000377977.3	37	NULL		2																																																																																			-	AC007389.4	-	-		0.552	AC074391.1-010	KNOWN	basic	lincRNA	ENSG00000265899	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000470883.1	0	0		27	27		0.00		G			65894475	+1	8		32		tier1	no_errors	ENST00000583614	ensembl	human	novel	74_37	rna	20.00		SNP	0.522	A	8	32
AK5	26289	genome.wustl.edu	37	1	77987609	77987609	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:77987609G>A	ENST00000354567.2	+	12	1672	c.1409G>A	c.(1408-1410)gGg>gAg	p.G470E	AK5_ENST00000344720.5_Missense_Mutation_p.G444E	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	470	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GTGAAGCAAGGGGAAGAGTTC	0.547													ENSG00000154027																																					0													53.0	54.0	54.0					1																	77987609		2203	4300	6503	SO:0001583	missense	0			-	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1409G>A	1.37:g.77987609G>A	ENSP00000346577:p.Gly470Glu		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.G470E	ENST00000354567.2	37	c.1409	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949642	0.73787	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.76968	-1.06;-1.06	4.76	3.84	0.44239	.	0.199279	0.32106	N	0.006562	T	0.73249	0.3563	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.77038	-0.2736	10	0.72032	D	0.01	-6.8036	8.4947	0.33121	0.0881:0.1558:0.7561:0.0	.	470	Q9Y6K8	KAD5_HUMAN	E	470;444	ENSP00000346577:G470E;ENSP00000341430:G444E	ENSP00000341430:G444E	G	+	2	0	AK5	77760197	0.994000	0.37717	0.998000	0.56505	0.986000	0.74619	1.799000	0.38824	1.113000	0.41760	0.650000	0.86243	GGG	-	AK5	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenylate_kin1		0.547	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	0	0		62	62		0.00		G	NM_174858		77987609	+1	31		74		tier1	no_errors	ENST00000354567	ensembl	human	known	74_37	missense	29.52		SNP	0.996	A	31	74
CBFA2T3	863	genome.wustl.edu	37	16	89016999	89016999	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:89016999C>T	ENST00000268679.4	-	1	548				CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Intron|CBFA2T3_ENST00000360302.2_Intron|RP11-830F9.6_ENST00000378347.2_Missense_Mutation_p.P158L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3						cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACCTGTCTTCCGGATCTGTTC	0.647			T	RUNX1	AML								ENSG00000205018																												Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0																																										SO:0001627	intron_variant	0			-	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.151+26065G>A	16.37:g.89016999C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	NULL	p.P158L	ENST00000268679.4	37	c.473	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	-	0.520	-0.862553	0.02610	.	.	ENSG00000205018	ENST00000378347	.	.	.	.	.	.	.	.	.	.	.	T	0.18425	0.0442	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	0.19590	T	0.45	.	2.6649	0.05041	0.0:0.5123:0.0:0.4877	.	.	.	.	L	158	.	ENSP00000367598:P158L	P	+	2	0	AC092384.1	87544500	0.443000	0.25641	0.012000	0.15200	0.012000	0.07955	-0.049000	0.11924	0.119000	0.18210	0.121000	0.15741	CCG	-	RP11-830F9.6	-	NULL		0.647	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000205018	Clone_based_vega_gene	protein_coding	OTTHUMT00000269545.2	0	0		207	207		0.00		C	NM_005187		89016999	+1	84		105		tier1	no_errors	ENST00000378347	ensembl	human	putative	74_37	missense	44.44		SNP	0.049	T	84	105
MAP7D1	55700	genome.wustl.edu	37	1	36638986	36638986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36638986C>T	ENST00000373151.2	+	5	862	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	MAP7D1_ENST00000316156.4_Nonsense_Mutation_p.Q216*|MAP7D1_ENST00000373150.4_Nonsense_Mutation_p.Q216*|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	216					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCAGCCATCCAACGGTCAGT	0.572													ENSG00000116871																																					0													95.0	92.0	93.0					1																	36638986		2203	4300	6503	SO:0001587	stop_gained	0			-	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.646C>T	1.37:g.36638986C>T	ENSP00000362244:p.Gln216*		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Nonsense_Mutation	SNP	pfam_MAP7	p.Q216*	ENST00000373151.2	37	c.646	CCDS30673.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.147491	0.97324	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	.	.	.	5.22	5.22	0.72569	.	0.000000	0.39759	N	0.001271	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-28.1781	12.7947	0.57553	0.1637:0.8363:0.0:0.0	.	.	.	.	X	177;216;216;216	.	ENSP00000320228:Q216X	Q	+	1	0	MAP7D1	36411573	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.974000	0.49272	2.620000	0.88729	0.655000	0.94253	CAA	-	MAP7D1	-	NULL		0.572	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	0	0		76	76		0.00		C	NM_018067		36638986	+1	35		81		tier1	no_errors	ENST00000373151	ensembl	human	known	74_37	nonsense	30.17		SNP	1.000	T	35	81
CNNM4	26504	genome.wustl.edu	37	2	97463353	97463353	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:97463353C>T	ENST00000377075.2	+	3	1748	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	CNNM4_ENST00000496186.1_3'UTR|MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000540067.1_Silent_p.L37L	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	550					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						CCCCGCAGCTCCTCCTGGCCG	0.572													ENSG00000158158																																					0													55.0	49.0	51.0					2																	97463353		2203	4300	6503	SO:0001819	synonymous_variant	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.1650C>T	2.37:g.97463353C>T			B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L550	ENST00000377075.2	37	c.1650	CCDS2024.2	2																																																																																			-	CNNM4	-	NULL		0.572	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	0	0		45	45		0.00		C	NM_020184		97463353	+1	44		51		tier1	no_errors	ENST00000377075	ensembl	human	known	74_37	silent	46.32		SNP	0.932	T	44	51
TTN	7273	genome.wustl.edu	37	2	179498051	179498051	+	Nonsense_Mutation	SNP	G	G	A	rs376799532		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:179498051G>A	ENST00000591111.1	-	183	38250	c.38026C>T	c.(38026-38028)Cga>Tga	p.R12676*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R5377*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R5252*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R14317*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R11749*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R5444*			Q8WZ42	TITIN_HUMAN	titin	12676					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)			TTTATTAGTCGAGCTGAAATG	0.393													ENSG00000155657																																					0													110.0	110.0	110.0					2																	179498051		1848	4093	5941	SO:0001587	stop_gained	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.38026C>T	2.37:g.179498051G>A	ENSP00000465570:p.Arg12676*		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	Nonsense_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.R11749*	ENST00000591111.1	37	c.35245		2	.	.	.	.	.	.	.	.	.	.	G	57	28.954122	0.99974	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	11749;5252;5444;5377;5252	.	ENSP00000340554:R5444X	R	-	1	2	TTN	179206296	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.811000	0.86092	2.941000	0.99782	0.655000	0.94253	CGA	-	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		70	70		0.00		G	NM_133378		179498051	-1	16		78		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	17.02		SNP	1.000	A	16	78
TMEM176A	55365	genome.wustl.edu	37	7	150500764	150500764	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150500764C>T	ENST00000484928.1	+	5	980	c.399C>T	c.(397-399)ctC>ctT	p.L133L	TMEM176A_ENST00000004103.3_Silent_p.L133L|TMEM176A_ENST00000461345.1_Silent_p.L74L|TMEM176B_ENST00000447204.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	133					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCTGCCCTCAAACTTTGGA	0.537													ENSG00000002933																																					0													79.0	84.0	82.0					7																	150500764		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.399C>T	7.37:g.150500764C>T			D3DX00|Q9NYC7	Silent	SNP	pfam_CD20-like	p.L133	ENST00000484928.1	37	c.399	CCDS5909.1	7																																																																																			-	TMEM176A	-	pfam_CD20-like		0.537	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM176A	HGNC	protein_coding	OTTHUMT00000350222.1	0	0		73	73		0.00		C	NM_018487		150500764	+1	31		60		tier1	no_errors	ENST00000004103	ensembl	human	known	74_37	silent	34.07		SNP	0.000	T	31	60
EMB	133418	genome.wustl.edu	37	5	49699285	49699285	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:49699285G>A	ENST00000303221.5	-	6	819	c.604C>T	c.(604-606)Cct>Tct	p.P202S	EMB_ENST00000514111.1_Missense_Mutation_p.P152S|EMB_ENST00000508934.1_Missense_Mutation_p.P148S|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	202	Ig-like V-type 2.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ACACCAACAGGAACCTAATAT	0.328													ENSG00000170571																																					0													70.0	67.0	68.0					5																	49699285		2202	4297	6499	SO:0001583	missense	0			-	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.604C>T	5.37:g.49699285G>A	ENSP00000302289:p.Pro202Ser		B7Z6S3|B7Z902	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P202S	ENST00000303221.5	37	c.604	CCDS3953.1	5	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114555	0.56505	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.71341	-0.56;3.16;-0.56	4.79	4.79	0.61399	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387330	0.27966	N	0.017131	T	0.75072	0.3800	M	0.70595	2.14	0.36051	D	0.840781	P;P	0.45126	0.817;0.851	P;P	0.48571	0.556;0.582	T	0.81031	-0.1117	9	.	.	.	-17.0702	13.7478	0.62885	0.0:0.0:1.0:0.0	.	148;202	D6RDX7;Q6PCB8	.;EMB_HUMAN	S	202;174;148;152	ENSP00000302289:P202S;ENSP00000425215:P148S;ENSP00000426404:P152S	.	P	-	1	0	EMB	49735042	1.000000	0.71417	0.987000	0.45799	0.075000	0.17131	1.986000	0.40677	2.392000	0.81423	0.479000	0.44913	CCT	-	EMB	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.328	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	HGNC	protein_coding	OTTHUMT00000253853.1	0	0		125	125		0.00		G	NM_198449		49699285	-1	37		110		tier1	no_errors	ENST00000303221	ensembl	human	known	74_37	missense	25.00		SNP	0.996	A	37	110
FXYD2	486	genome.wustl.edu	37	11	117691207	117691207	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:117691207C>T	ENST00000292079.2	-	6	273				FXYD2_ENST00000514385.1_5'Flank|FXYD6-FXYD2_ENST00000532984.1_Intron|RP11-728F11.3_ENST00000531850.2_RNA|FXYD2_ENST00000260287.2_Intron|FXYD2_ENST00000528014.1_Intron|FXYD2_ENST00000532119.1_Intron|RP11-728F11.3_ENST00000596805.1_RNA	NM_001680.4	NP_001671.2	P54710	ATNG_HUMAN	FXYD domain containing ion transport regulator 2						ion transmembrane transport (GO:0034220)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ion channel activity (GO:0005216)|sodium:potassium-exchanging ATPase activity (GO:0005391)|transporter activity (GO:0005215)			breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	Cyclothiazide(DB00606)	GGCACACACTCCACGCCAGGC	0.542													ENSG00000254844																																					0																																										SO:0001627	intron_variant	0			-	AF241236	CCDS8385.1, CCDS8386.1	11q23	2008-02-05	2003-02-28						4026	protein-coding gene	gene with protein product		601814	"""hypomagnesemia 2, renal"""	ATP1G1, HOMG2		9048881, 9915957	Standard	NM_021603		Approved	MGC12372		P54710		ENST00000292079.2:c.199-120G>A	11.37:g.117691207C>T			Q15332|Q53YC1|Q9GZP3|Q9GZQ7	R	SNP	-	NULL	ENST00000292079.2	37	NULL	CCDS8386.1	11																																																																																			-	RP11-728F11.3	-	-		0.542	FXYD2-002	KNOWN	basic|CCDS	protein_coding	ENSG00000254844	Clone_based_vega_gene	protein_coding	OTTHUMT00000390050.1	0	0		11	11		0.00		C	NM_021603		117691207	+1	4		16		tier1	no_errors	ENST00000531850	ensembl	human	known	74_37	rna	20.00		SNP	0.000	T	4	16
GIMAP2	26157	genome.wustl.edu	37	7	150389535	150389535	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:150389535C>T	ENST00000223293.5	+	3	255	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	54	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCTGGGTTCCCAGACCTTG	0.473													ENSG00000106560																																					0													77.0	73.0	74.0					7																	150389535		2203	4300	6503	SO:0001583	missense	0			-	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.161C>T	7.37:g.150389535C>T	ENSP00000223293:p.Ser54Phe		Q96L25	Missense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.S54F	ENST00000223293.5	37	c.161	CCDS5905.1	7	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995833	0.54147	.	.	ENSG00000106560	ENST00000223293	T	0.60797	0.16	3.8	3.8	0.43715	AIG1 (1);	0.339595	0.27636	N	0.018483	T	0.46425	0.1392	L	0.28556	0.865	0.80722	D	1	P	0.49635	0.926	B	0.43838	0.433	T	0.49688	-0.8913	10	0.51188	T	0.08	.	11.3267	0.49452	0.0:1.0:0.0:0.0	.	54	Q9UG22	GIMA2_HUMAN	F	54	ENSP00000223293:S54F	ENSP00000223293:S54F	S	+	2	0	GIMAP2	150020468	0.000000	0.05858	0.007000	0.13788	0.053000	0.15095	0.722000	0.25925	2.137000	0.66172	0.609000	0.83330	TCC	-	GIMAP2	-	pfam_AIG1,superfamily_P-loop_NTPase		0.473	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	HGNC	protein_coding	OTTHUMT00000348948.1	0	0		59	59		0.00		C	NM_015660		150389535	+1	19		54		tier1	no_errors	ENST00000223293	ensembl	human	known	74_37	missense	26.03		SNP	0.023	T	19	54
CDH12	1010	genome.wustl.edu	37	5	22142675	22142675	+	Intron	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:22142675G>T	ENST00000382254.1	-	5	901				PMCHL1_ENST00000418902.1_RNA|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Intron|RP11-855C21.1_ENST00000524042.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTCCTGTAGGAAGGAGAGAT	0.368										HNSCC(59;0.17)			ENSG00000168967																																					0																																										SO:0001627	intron_variant	0			-	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.186-63704C>A	5.37:g.22142675G>T			B2RBT1|B7Z2U6|Q86UD2	R	SNP	-	NULL	ENST00000382254.1	37	NULL	CCDS3890.1	5																																																																																			-	PMCHL1	-	-		0.368	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMCHL1	HGNC	protein_coding	OTTHUMT00000207139.1	0	0		81	81		0.00		G	NM_004061		22142675	+1	39		65		tier1	no_errors	ENST00000418902	ensembl	human	known	74_37	rna	37.50		SNP	0.998	T	39	65
C6orf89	221477	genome.wustl.edu	37	6	36870121	36870121	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:36870121G>A	ENST00000480824.2	+	4	608	c.314G>A	c.(313-315)aGg>aAg	p.R105K	C6orf89_ENST00000373685.1_Missense_Mutation_p.R105K|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.R112K|C6orf89_ENST00000359359.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	105					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CATCACATTAGGCTGATGTCC	0.488													ENSG00000198663																																					0													140.0	126.0	131.0					6																	36870121		2203	4300	6503	SO:0001583	missense	0			-	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.314G>A	6.37:g.36870121G>A	ENSP00000475947:p.Arg105Lys		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	NULL	p.R112K	ENST00000480824.2	37	c.335		6	.	.	.	.	.	.	.	.	.	.	G	33	5.274068	0.95459	.	.	ENSG00000198663	ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	T;T	0.36520	1.25;1.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.53899	-0.8373	10	0.87932	D	0	-2.6286	17.9106	0.88932	0.0:0.0:1.0:0.0	.	105;112	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	K	112;105;112;111	ENSP00000347322:R112K;ENSP00000362789:R105K	ENSP00000347322:R112K	R	+	2	0	C6orf89	36978099	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.728000	0.84847	2.664000	0.90586	0.591000	0.81541	AGG	-	C6orf89	-	NULL		0.488	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2	0	0		54	54		0.00		G	NM_152734		36870121	+1	23		24		tier1	no_errors	ENST00000355190	ensembl	human	known	74_37	missense	48.94		SNP	1.000	A	23	24
ITIH1	3697	genome.wustl.edu	37	3	52819120	52819120	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52819120G>A	ENST00000273283.2	+	12	1492	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Missense_Mutation_p.D202N|ITIH1_ENST00000542827.1_Missense_Mutation_p.D490N|ITIH1_ENST00000540715.1_Missense_Mutation_p.D348N	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	490	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTACCCCCAGGATGCTGTCTT	0.552													ENSG00000055957																																					0													126.0	117.0	120.0					3																	52819120		2203	4300	6503	SO:0001583	missense	0			-		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1468G>A	3.37:g.52819120G>A	ENSP00000273283:p.Asp490Asn		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D490N	ENST00000273283.2	37	c.1468	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	G	5.475	0.272693	0.10349	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96	4.88	4.88	0.63580	.	0.093312	0.64402	D	0.000001	T	0.05640	0.0148	L	0.27944	0.81	0.33593	D	0.601403	B;B;B	0.12630	0.006;0.005;0.001	B;B;B	0.15052	0.012;0.003;0.004	T	0.26985	-1.0087	10	0.02654	T	1	-19.6978	5.4889	0.16765	0.1308:0.1959:0.6733:0.0	.	348;91;490	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	N	490;490;348;202;43	ENSP00000442584:D490N;ENSP00000273283:D490N;ENSP00000443973:D348N;ENSP00000443847:D202N;ENSP00000395836:D43N	ENSP00000273283:D490N	D	+	1	0	ITIH1	52794160	0.957000	0.32711	0.499000	0.27577	0.937000	0.57800	2.178000	0.42519	2.557000	0.86248	0.543000	0.68304	GAT	-	ITIH1	-	NULL		0.552	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	0	0		79	79		0.00		G	NM_002215		52819120	+1	25		69		tier1	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	26.60		SNP	0.781	A	25	69
FAM110B	90362	genome.wustl.edu	37	8	59059503	59059503	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:59059503C>T	ENST00000361488.3	+	5	1594	c.714C>T	c.(712-714)tcC>tcT	p.S238S	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	238						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCATGAAGTCCCCCGAGGCCG	0.612													ENSG00000169122																																					0													84.0	93.0	90.0					8																	59059503		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.714C>T	8.37:g.59059503C>T			Q5BM08|Q9Y4K2	Silent	SNP	NULL	p.S238	ENST00000361488.3	37	c.714	CCDS6170.1	8																																																																																			-	FAM110B	-	NULL		0.612	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	HGNC	protein_coding	OTTHUMT00000378095.2	0	0		35	35		0.00		C	NM_147189		59059503	+1	10		32		tier1	no_errors	ENST00000361488	ensembl	human	known	74_37	silent	23.81		SNP	0.998	T	10	32
NLRP4	147945	genome.wustl.edu	37	19	56392906	56392906	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:56392906C>T	ENST00000301295.6	+	10	3360	c.2938C>T	c.(2938-2940)Ctg>Ttg	p.L980L	NLRP4_ENST00000346986.5_Silent_p.L924L|NLRP4_ENST00000587891.1_Silent_p.L905L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	980					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAATCCTAACCTGACCATCAC	0.463													ENSG00000160505																																					0													90.0	73.0	79.0					19																	56392906		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2938C>T	19.37:g.56392906C>T			Q86W87|Q96AY6	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.L980	ENST00000301295.6	37	c.2938	CCDS12936.1	19																																																																																			-	NLRP4	-	NULL		0.463	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	0	0		52	52		0.00		C	NM_134444		56392906	+1	14		73		tier1	no_errors	ENST00000301295	ensembl	human	known	74_37	silent	15.91		SNP	0.000	T	14	73
KIT	3815	genome.wustl.edu	37	4	55565855	55565855	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:55565855G>A	ENST00000288135.5	+	4	776	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	227	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGGGAAGGGGAAGAATTCAC	0.413		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				ENSG00000157404																											yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0													171.0	154.0	160.0					4																	55565855		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	-	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.679G>A	4.37:g.55565855G>A	ENSP00000288135:p.Glu227Lys		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E227K	ENST00000288135.5	37	c.679	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056405	0.55325	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.23552	1.9;1.9	5.92	5.08	0.68730	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.088571	0.47852	D	0.000201	T	0.42017	0.1184	M	0.68593	2.085	0.53688	D	0.999973	D;P	0.54397	0.966;0.844	P;P	0.54856	0.762;0.718	T	0.40403	-0.9565	10	0.87932	D	0	.	13.267	0.60139	0.0729:0.0:0.9271:0.0	.	227;227	P10721-2;P10721	.;KIT_HUMAN	K	227	ENSP00000288135:E227K;ENSP00000390987:E227K	ENSP00000288135:E227K	E	+	1	0	KIT	55260612	1.000000	0.71417	0.326000	0.25389	0.031000	0.12232	5.996000	0.70639	1.519000	0.48950	0.557000	0.71058	GAA	-	KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	0	0		83	83		0.00		G			55565855	+1	16		59		tier1	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	21.33		SNP	0.972	A	16	59
CAMTA1	23261	genome.wustl.edu	37	1	7798376	7798376	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:7798376C>A	ENST00000303635.7	+	16	4223	c.4016C>A	c.(4015-4017)cCg>cAg	p.P1339Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P1339Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTGGAAATCCGAAGGGGACC	0.498			T	WWTR1	epitheliod hemangioendothelioma								ENSG00000171735																												Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													73.0	72.0	72.0					1																	7798376		2203	4300	6503	SO:0001583	missense	0			-	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4016C>A	1.37:g.7798376C>A	ENSP00000306522:p.Pro1339Gln		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.P1339Q	ENST00000303635.7	37	c.4016	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	C	8.084	0.773066	0.16051	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.19105	2.18;2.17	4.92	3.87	0.44632	.	0.345747	0.32736	N	0.005702	T	0.10294	0.0252	N	0.10809	0.05	0.27403	N	0.954786	B;B;B;B	0.18968	0.032;0.019;0.011;0.019	B;B;B;B	0.15052	0.012;0.006;0.006;0.006	T	0.14364	-1.0475	10	0.28530	T	0.3	-19.811	9.2075	0.37298	0.2219:0.66:0.1181:0.0	.	1339;426;295;1339	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	Q	1339;1339;426;295	ENSP00000306522:P1339Q;ENSP00000402561:P1339Q	ENSP00000306522:P1339Q	P	+	2	0	CAMTA1	7720963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.790000	0.26900	2.424000	0.82194	0.655000	0.94253	CCG	-	CAMTA1	-	NULL		0.498	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	0	0		27	27		0.00		C	NM_015215		7798376	+1	3		23		tier1	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	11.54		SNP	1.000	A	3	23
SLC8A1	6546	genome.wustl.edu	37	2	40657359	40657359	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:40657359A>T	ENST00000403092.1	-	2	95	c.62T>A	c.(61-63)gTt>gAt	p.V21D	SLC8A1_ENST00000405269.1_Missense_Mutation_p.V21D|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V21D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V21D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V21D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V21D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V21D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V21D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V21D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V21D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	21					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTCACAGTAACTAACAGATG	0.393													ENSG00000183023																																					0													97.0	94.0	95.0					2																	40657359		2203	4300	6503	SO:0001583	missense	0			-		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.62T>A	2.37:g.40657359A>T	ENSP00000384763:p.Val21Asp		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.V21D	ENST00000403092.1	37	c.62	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	A	5.350	0.249912	0.10130	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.30182	1.56;1.58;1.58;1.58;1.56;1.56;1.58;1.54;1.56;1.55	6.04	1.8	0.24995	.	0.702014	0.15079	N	0.281761	T	0.24624	0.0597	L	0.46157	1.445	0.09310	N	1	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.004;0.002	B;B;B;B;B	0.12156	0.0;0.0;0.0;0.005;0.007	T	0.25117	-1.0141	10	0.87932	D	0	.	5.9459	0.19219	0.3569:0.1428:0.5003:0.0	.	21;21;21;21;21	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	D	21	ENSP00000383886:V21D;ENSP00000440727:V21D;ENSP00000384763:V21D;ENSP00000385678:V21D;ENSP00000385188:V21D;ENSP00000385535:V21D;ENSP00000332931:V21D;ENSP00000384908:V21D;ENSP00000385811:V21D;ENSP00000443515:V21D	ENSP00000332931:V21D	V	-	2	0	SLC8A1	40510863	0.488000	0.25996	0.086000	0.20670	0.546000	0.35178	0.745000	0.26259	0.389000	0.25086	0.460000	0.39030	GTT	-	SLC8A1	-	prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex		0.393	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	0	0		39	39		0.00		A	NM_021097		40657359	-1	15		22		tier1	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	40.54		SNP	0.000	T	15	22
SNHG14	104472715	genome.wustl.edu	37	15	25325355	25325355	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:25325355C>T	ENST00000546682.1	+	0	0				SNORD116-14_ENST00000383894.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-13_ENST00000384408.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-15_ENST00000384445.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAACTCTATACCGTCATTCTC	0.448													ENSG00000206621																																					0													276.0	245.0	255.0					15																	25325355		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.25325355C>T				R	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			-	SNORD116-14	-	-		0.448	SNHG14-022	KNOWN	basic	antisense	SNORD116-14	HGNC	processed_transcript	OTTHUMT00000408281.1	0	0		139	139		0.00		C			25325355	+1	51		45		tier1	no_errors	ENST00000383894	ensembl	human	known	74_37	rna	53.12		SNP	0.035	T	51	45
HERC5	51191	genome.wustl.edu	37	4	89385033	89385033	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:89385033G>C	ENST00000264350.3	+	6	961	c.808G>C	c.(808-810)Gga>Cga	p.G270R		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	270					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTCGGTGCTGGAAAACATGG	0.408													ENSG00000138646																									Esophageal Squamous(39;887 1012 34045 50514)												0													176.0	159.0	164.0					4																	89385033		2203	4300	6503	SO:0001583	missense	0			-	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.808G>C	4.37:g.89385033G>C	ENSP00000264350:p.Gly270Arg		B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G270R	ENST00000264350.3	37	c.808	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553906	0.86231	.	.	ENSG00000138646	ENST00000264350	D	0.88124	-2.34	4.75	4.75	0.60458	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.101842	0.42548	D	0.000686	D	0.95752	0.8618	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96950	0.9694	10	0.72032	D	0.01	.	17.8931	0.88878	0.0:0.0:1.0:0.0	.	270	Q9UII4	HERC5_HUMAN	R	270	ENSP00000264350:G270R	ENSP00000264350:G270R	G	+	1	0	HERC5	89604056	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.760000	0.74939	2.625000	0.88918	0.650000	0.86243	GGA	-	HERC5	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.408	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	0	0		106	106		0.00		G	NM_016323		89385033	+1	39		68		tier1	no_errors	ENST00000264350	ensembl	human	known	74_37	missense	36.45		SNP	1.000	C	39	68
COL4A4	1286	genome.wustl.edu	37	2	227892684	227892684	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:227892684G>A	ENST00000396625.3	-	42	4222	c.4015C>T	c.(4015-4017)Cct>Tct	p.P1339S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1339S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1339	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTGGCCCAGGAAATCCATGT	0.478													ENSG00000081052																																					0													41.0	45.0	44.0					2																	227892684		1848	4091	5939	SO:0001583	missense	0			-		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4015C>T	2.37:g.227892684G>A	ENSP00000379866:p.Pro1339Ser		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1339S	ENST00000396625.3	37	c.4015	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353276	0.41700	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94092	-3.35;-3.35	5.43	5.43	0.79202	.	.	.	.	.	D	0.95617	0.8575	M	0.76838	2.35	0.37728	D	0.925184	D	0.63046	0.992	P	0.61070	0.883	D	0.94943	0.8093	9	0.26408	T	0.33	.	15.0885	0.72174	0.0:0.0:1.0:0.0	.	1339	P53420	CO4A4_HUMAN	S	1339	ENSP00000379866:P1339S;ENSP00000328553:P1339S	ENSP00000328553:P1339S	P	-	1	0	COL4A4	227600928	0.978000	0.34361	0.078000	0.20375	0.979000	0.70002	2.343000	0.44001	2.699000	0.92147	0.655000	0.94253	CCT	-	COL4A4	-	pfam_Collagen		0.478	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	0	0		57	57		0.00		G	NM_000092		227892684	-1	12		52		tier1	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	18.75		SNP	0.608	A	12	52
SPSB4	92369	genome.wustl.edu	37	3	140866004	140866004	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:140866004G>A	ENST00000310546.2	+	3	1459	c.715G>A	c.(715-717)Gac>Aac	p.D239N	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	239	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCACTGATGGACCTGTGCCG	0.627													ENSG00000175093																																					0													54.0	54.0	54.0					3																	140866004		2203	4300	6503	SO:0001583	missense	0			-		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.715G>A	3.37:g.140866004G>A	ENSP00000311609:p.Asp239Asn			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.D239N	ENST00000310546.2	37	c.715	CCDS3115.1	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714330	0.89112	.	.	ENSG00000175093	ENST00000310546	T	0.43294	0.95	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.76002	2.32	0.58432	D	0.999999	P	0.52316	0.952	P	0.51453	0.67	T	0.52193	-0.8608	10	0.29301	T	0.29	-49.355	17.2564	0.87057	0.0:0.0:1.0:0.0	.	239	Q96A44	SPSB4_HUMAN	N	239	ENSP00000311609:D239N	ENSP00000311609:D239N	D	+	1	0	SPSB4	142348694	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.363000	0.97131	2.676000	0.91093	0.561000	0.74099	GAC	-	SPSB4	-	pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SOCS_C,pfscan_SOCS_C		0.627	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB4	HGNC	protein_coding	OTTHUMT00000359727.1	0	0		47	47		0.00		G	NM_080862		140866004	+1	24		64		tier1	no_errors	ENST00000310546	ensembl	human	known	74_37	missense	27.27		SNP	1.000	A	24	64
SLC7A2	6542	genome.wustl.edu	37	8	17406327	17406327	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:17406327C>T	ENST00000494857.1	+	5	891	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	SLC7A2_ENST00000398090.3_Missense_Mutation_p.L265F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L225F|SLC7A2_ENST00000470360.1_Missense_Mutation_p.L265F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L265F	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	225					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAAGAGTTTCTCAAAAATAT	0.328													ENSG00000003989																																					0													144.0	153.0	150.0					8																	17406327		2203	4300	6503	SO:0001583	missense	0			-	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.673C>T	8.37:g.17406327C>T	ENSP00000419140:p.Leu225Phe		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.L265F	ENST00000494857.1	37	c.793	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575448	0.45902	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89123	-2.32;-2.32;-2.47;-2.34;-2.47	4.68	4.68	0.58851	Amino acid permease domain (1);	0.107759	0.64402	D	0.000004	D	0.82444	0.5038	N	0.16233	0.39	0.80722	D	1	B;B;B	0.12630	0.001;0.0;0.006	B;B;B	0.22880	0.008;0.012;0.042	T	0.76974	-0.2760	10	0.35671	T	0.21	.	18.542	0.91031	0.0:1.0:0.0:0.0	.	265;265;225	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	F	225;225;265;265;265	ENSP00000419140:L225F;ENSP00000430464:L225F;ENSP00000419873:L265F;ENSP00000004531:L265F;ENSP00000381164:L265F	ENSP00000004531:L265F	L	+	1	0	SLC7A2	17450706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.624000	0.61254	2.538000	0.85594	0.650000	0.86243	CTC	-	SLC7A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease		0.328	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	0	0		173	173		0.00		C	NM_003046		17406327	+1	39		95		tier1	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	29.10		SNP	1.000	T	39	95
TPT1-AS1	100190939	genome.wustl.edu	37	13	45957971	45957971	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:45957971G>A	ENST00000517509.1	+	0	988				TPT1-AS1_ENST00000520585.1_RNA|TPT1-AS1_ENST00000522673.1_RNA|TPT1-AS1_ENST00000523445.1_RNA|TPT1-AS1_ENST00000519454.1_RNA	NR_024458.1				TPT1 antisense RNA 1																		gagtaaatccgaagtaaggta	0.532													ENSG00000170919																																					0																																												0			-	AF318337		13q14.13	2012-10-12	2012-08-15		ENSG00000170919	ENSG00000170919		"""Long non-coding RNAs"""	43686	non-coding RNA	RNA, long non-coding			"""TPT1 antisense RNA 1 (non-protein coding)"""				Standard	NR_024458		Approved		uc021rjh.1		OTTHUMG00000016851		13.37:g.45957971G>A				R	SNP	-	NULL	ENST00000517509.1	37	NULL		13																																																																																			-	TPT1-AS1	-	-		0.532	TPT1-AS1-003	KNOWN	basic	antisense	TPT1-AS1	HGNC	antisense	OTTHUMT00000374919.1	0	0		32	32		0.00		G	NR_024458		45957971	+1	9		13		tier1	no_errors	ENST00000519454	ensembl	human	known	74_37	rna	40.91		SNP	0.014	A	9	13
AGER	177	genome.wustl.edu	37	6	32150476	32150476	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32150476C>T	ENST00000375076.4	-	7	793		c.e7-1		AGER_ENST00000438221.2_Splice_Site|AGER_ENST00000375065.5_Intron|AGER_ENST00000375070.3_Splice_Site|AGER_ENST00000375069.3_Splice_Site|AGER_ENST00000375067.3_Splice_Site|RNF5_ENST00000427134.2_Intron|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375055.2_Splice_Site	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor						cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GGCACAGGCTCTGGGAGTTGG	0.562													ENSG00000204305																																					0													69.0	74.0	72.0					6																	32150476		1510	2709	4219	SO:0001630	splice_region_variant	0			-	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.692-1G>A	6.37:g.32150476C>T			A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Splice_Site	SNP	-	e7-1	ENST00000375076.4	37	c.785-1	CCDS4746.1	6	.	.	.	.	.	.	.	.	.	.	C	5.087	0.201781	0.09652	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000438221;ENST00000375069	.	.	.	4.92	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4101	0.38487	0.0:0.9024:0.0:0.0976	.	.	.	.	.	-1	.	.	.	-	.	.	AGER	32258454	1.000000	0.71417	0.988000	0.46212	0.085000	0.17905	2.088000	0.41663	1.296000	0.44742	0.462000	0.41574	.	-	AGER	-	-		0.562	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGER	HGNC	protein_coding	OTTHUMT00000076200.1	0	0		19	19		0.00		C	NM_001136	Intron	32150476	-1	12		26		tier1	no_errors	ENST00000375070	ensembl	human	known	74_37	splice_site	31.58		SNP	0.992	T	12	26
CFAP57	149465	genome.wustl.edu	37	1	43638024	43638024	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:43638024G>A	ENST00000372492.4	+	0	205				EBNA1BP2_ENST00000236051.2_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank|WDR65_ENST00000528956.1_5'UTR|EBNA1BP2_ENST00000431635.2_Silent_p.S23S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTTGCTATAGGAACCGCTAC	0.542													ENSG00000117395																																					0													76.0	70.0	72.0					1																	43638024		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			-																												ENST00000372492.4:c.-120G>A	1.37:g.43638024G>A			A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	pfam_Ebp2	p.S23	ENST00000372492.4	37	c.69		1																																																																																			-	EB1BP2	-	NULL		0.542	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	EB1BP2	HGNC	protein_coding	OTTHUMT00000384325.1	0	0		38	38		0.00		G			43638024	-1	4		22		tier1	no_errors	ENST00000431635	ensembl	human	known	74_37	silent	14.81		SNP	1.000	A	4	22
PBXIP1	57326	genome.wustl.edu	37	1	154918538	154918538	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154918538G>A	ENST00000368463.3	-	10	1683	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P509S|PBXIP1_ENST00000542459.1_Missense_Mutation_p.P383S|PBXIP1_ENST00000539880.1_Missense_Mutation_p.P365S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	538					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTTCCTTCGGGCCCTGTCGC	0.617													ENSG00000163346																																					0													145.0	151.0	149.0					1																	154918538		2203	4300	6503	SO:0001583	missense	0			-	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1612C>T	1.37:g.154918538G>A	ENSP00000357448:p.Pro538Ser		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	NULL	p.P383S	ENST00000368463.3	37	c.1147	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.191351	0.01607	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.10860	2.83;2.83;2.85;2.84	4.5	0.17	0.15021	.	1.782800	0.02795	N	0.122515	T	0.01558	0.0050	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36601	-0.9741	10	0.10111	T	0.7	-0.7533	4.4173	0.11463	0.3009:0.0:0.5389:0.1601	.	538	Q96AQ6	PBIP1_HUMAN	S	509;538;538;365;314;383	ENSP00000357450:P509S;ENSP00000357448:P538S;ENSP00000440142:P365S;ENSP00000438584:P383S	ENSP00000295523:P538S	P	-	1	0	PBXIP1	153185162	0.000000	0.05858	0.003000	0.11579	0.475000	0.33008	-0.411000	0.07142	0.481000	0.27557	0.313000	0.20887	CCG	-	PBXIP1	-	NULL		0.617	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	0	0		19	19		0.00		G	NM_020524		154918538	-1	10		17		tier1	no_errors	ENST00000542459	ensembl	human	known	74_37	missense	37.04		SNP	0.000	A	10	17
C3	718	genome.wustl.edu	37	19	6697788	6697788	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6697788G>A	ENST00000245907.6	-	20	2550	c.2458C>T	c.(2458-2460)Ccc>Tcc	p.P820S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	820					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACCTCGAAGGGGTCTGCCACA	0.567													ENSG00000125730																																					0													37.0	34.0	35.0					19																	6697788		2203	4300	6503	SO:0001583	missense	0			-	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2458C>T	19.37:g.6697788G>A	ENSP00000245907:p.Pro820Ser		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.P820S	ENST00000245907.6	37	c.2458	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763631	0.49574	.	.	ENSG00000125730	ENST00000245907	T	0.27402	1.67	5.96	5.96	0.96718	Alpha-2-macroglobulin (1);	0.221668	0.47455	D	0.000222	T	0.60843	0.2300	M	0.81112	2.525	0.45490	D	0.998455	D	0.89917	1.0	D	0.97110	1.0	T	0.61053	-0.7140	10	0.56958	D	0.05	.	19.1907	0.93664	0.0:0.0:1.0:0.0	.	820	P01024	CO3_HUMAN	S	820	ENSP00000245907:P820S	ENSP00000245907:P820S	P	-	1	0	C3	6648788	1.000000	0.71417	0.989000	0.46669	0.032000	0.12392	2.458000	0.45014	2.831000	0.97527	0.650000	0.86243	CCC	-	C3	-	pfam_Macroglobln_a2		0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	0	0		43	43		0.00		G	NM_000064		6697788	-1	7		36		tier1	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	16.28		SNP	1.000	A	7	36
HIC1	3090	genome.wustl.edu	37	17	1961396	1961396	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:1961396G>A	ENST00000322941.3	+	2	1469	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Missense_Mutation_p.G471E	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	490					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GGAGGCGGCGGGGACAAGGTC	0.741													ENSG00000177374																																					0													5.0	7.0	6.0					17																	1961396		1853	3927	5780	SO:0001583	missense	0			-		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1469G>A	17.37:g.1961396G>A	ENSP00000314080:p.Gly490Glu		D3DTI4	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.G490E	ENST00000322941.3	37	c.1469	CCDS42229.1	17	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551274	0.27739	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.07216	3.27;3.21	3.52	3.52	0.40303	.	0.851483	0.09562	N	0.785438	T	0.04634	0.0126	N	0.08118	0	0.37995	D	0.934046	B	0.27351	0.176	B	0.19666	0.026	T	0.41233	-0.9520	10	0.21014	T	0.42	.	10.7466	0.46183	0.0:0.0:1.0:0.0	.	490	Q14526	HIC1_HUMAN	E	471;490	ENSP00000382742:G471E;ENSP00000314080:G490E	ENSP00000314080:G490E	G	+	2	0	HIC1	1908146	1.000000	0.71417	0.999000	0.59377	0.145000	0.21501	3.459000	0.53021	1.979000	0.57680	0.407000	0.27541	GGG	-	HIC1	-	NULL		0.741	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC1	HGNC	protein_coding	OTTHUMT00000438878.1	0	0		21	21		0.00		G	NM_006497		1961396	+1	17		32		tier1	no_errors	ENST00000322941	ensembl	human	known	74_37	missense	34.69		SNP	1.000	A	17	32
JAKMIP2	9832	genome.wustl.edu	37	5	146971250	146971250	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:146971250C>T	ENST00000265272.5	-	21	2880		c.e21-1		JAKMIP2_ENST00000507386.1_Splice_Site|JAKMIP2_ENST00000333010.6_Splice_Site	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2							Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTTACTCTGCAAAACAG	0.299													ENSG00000176049																																					0													110.0	100.0	103.0					5																	146971250		2203	4299	6502	SO:0001630	splice_region_variant	0			-	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2413-1G>A	5.37:g.146971250C>T			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Splice_Site	SNP	-	e20-1	ENST00000265272.5	37	c.2413-1	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230395	0.58777	.	.	ENSG00000176049	ENST00000265272	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3689	0.94477	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAKMIP2	146951443	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.359000	0.66074	2.637000	0.89404	0.563000	0.77884	.	-	JAKMIP2	-	-		0.299	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	0	0		40	40		0.00		C	NM_014790	Intron	146971250	-1	17		27		tier1	no_errors	ENST00000265272	ensembl	human	known	74_37	splice_site	38.64		SNP	1.000	T	17	27
RPL7L1	285855	genome.wustl.edu	37	6	42854258	42854258	+	3'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:42854258C>T	ENST00000493763.1	+	0	1100				RPL7L1_ENST00000304734.5_Intron|RPL7L1_ENST00000424341.2_3'UTR|RPL7L1_ENST00000397415.3_3'UTR	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1							ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			ATAGGCCATGCCTTGCCACTT	0.473													ENSG00000146223																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"""L ribosomal proteins"""	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.*56C>T	6.37:g.42854258C>T			A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	R	SNP	-	NULL	ENST00000493763.1	37	NULL	CCDS4873.1	6																																																																																			-	RPL7L1	-	-		0.473	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	0	0		23	23		0.00		C	XM_209769		42854258	+1	9		33		tier1	no_errors	ENST00000397415	ensembl	human	known	74_37	rna	21.43		SNP	0.001	T	9	33
TRPC3	7222	genome.wustl.edu	37	4	122836087	122836087	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:122836087G>A	ENST00000379645.3	-	4	1262	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	TRPC3_ENST00000264811.5_Missense_Mutation_p.P324S|TRPC3_ENST00000513531.1_Intron	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	312					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGCAGTTGGGATGAGCCACA	0.473													ENSG00000138741																																					0													81.0	64.0	70.0					4																	122836087		2203	4300	6503	SO:0001583	missense	0			-	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1189C>T	4.37:g.122836087G>A	ENSP00000368966:p.Pro397Ser		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	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,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P397S	ENST00000379645.3	37	c.1189	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024792	0.93518	.	.	ENSG00000138741	ENST00000264811;ENST00000379645	T;T	0.76709	-1.04;-1.04	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.88089	0.6343	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.927;1.0	D	0.86627	0.1883	10	0.38643	T	0.18	1.5248	19.3937	0.94596	0.0:0.0:1.0:0.0	.	312;397	Q13507;Q5G1L5	TRPC3_HUMAN;.	S	324;397	ENSP00000264811:P324S;ENSP00000368966:P397S	ENSP00000264811:P324S	P	-	1	0	TRPC3	123055537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.753000	0.98904	2.586000	0.87340	0.655000	0.94253	CCC	-	TRPC3	-	tigrfam_TRP_channel		0.473	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	0	0		40	40		0.00		G	NM_003305		122836087	-1	11		59		tier1	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	15.71		SNP	1.000	A	11	59
APOL4	80832	genome.wustl.edu	37	22	36587954	36587954	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:36587954C>T	ENST00000405511.1	-	6	636	c.214G>A	c.(214-216)Gag>Aag	p.E72K	APOL4_ENST00000352371.1_Missense_Mutation_p.E75K|APOL4_ENST00000332987.1_Missense_Mutation_p.E72K|APOL4_ENST00000404685.3_Missense_Mutation_p.E75K|APOL4_ENST00000429038.2_Missense_Mutation_p.E72K|APOL4_ENST00000479929.1_5'UTR	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	75					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						GCATCTGCCTCTTCCCTGTAC	0.398													ENSG00000100336																																					0													67.0	66.0	67.0					22																	36587954		2028	4198	6226	SO:0001583	missense	0			-	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000405511.1:c.214G>A	22.37:g.36587954C>T	ENSP00000384011:p.Glu72Lys		Q9BQ37|Q9BXQ8	Missense_Mutation	SNP	pfam_ApoL	p.E75K	ENST00000405511.1	37	c.223		22	.	.	.	.	.	.	.	.	.	.	c	15.45	2.838326	0.51057	.	.	ENSG00000100336	ENST00000404685;ENST00000405511;ENST00000429038;ENST00000352371;ENST00000332987;ENST00000457630	T;T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69;3.69	2.27	2.27	0.28462	.	0.420710	0.24523	N	0.037790	T	0.14399	0.0348	.	.	.	0.23893	N	0.996545	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.966	T	0.01015	-1.1480	9	0.59425	D	0.04	.	8.1108	0.30914	0.0:1.0:0.0:0.0	.	75;72	Q9BPW4;Q9BPW4-3	APOL4_HUMAN;.	K	75;72;72;75;72;72	ENSP00000385119:E75K;ENSP00000384011:E72K;ENSP00000404366:E72K;ENSP00000338260:E75K;ENSP00000333229:E72K;ENSP00000409085:E72K	ENSP00000333229:E72K	E	-	1	0	APOL4	34917900	0.009000	0.17119	0.020000	0.16555	0.008000	0.06430	0.865000	0.27940	1.583000	0.49898	0.462000	0.41574	GAG	-	APOL4	-	pfam_ApoL		0.398	APOL4-002	PUTATIVE	basic	protein_coding	APOL4	HGNC	protein_coding	OTTHUMT00000319256.2	0	0		49	49		0.00		C	NM_145660		36587954	-1	38		44		tier1	no_errors	ENST00000352371	ensembl	human	known	74_37	missense	45.78		SNP	0.023	T	38	44
PKHD1	5314	genome.wustl.edu	37	6	51890774	51890774	+	Silent	SNP	G	G	A	rs145960781		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:51890774G>A	ENST00000371117.3	-	32	4109	c.3834C>T	c.(3832-3834)ttC>ttT	p.F1278F	PKHD1_ENST00000340994.4_Silent_p.F1278F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1278	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACCACGGGCGAAGAACCTGT	0.587													ENSG00000170927	G|||	1	0.000199681	0.0008	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0																0								G	,	16,4390	24.3+/-50.5	1,14,2188	70.0	64.0	66.0		3834,3834	1.9	0.0	6	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	1,14,6488	AA,AG,GG		0.0,0.3631,0.123	,	1278/4075,1278/3397	51890774	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3834C>T	6.37:g.51890774G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.F1278	ENST00000371117.3	37	c.3834	CCDS4935.1	6																																																																																			rs145960781	PKHD1	-	superfamily_Ig_E-set,smart_IPT		0.587	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	0	0		25	25		0.00		G	NM_138694		51890774	-1	9		22		tier1	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	29.03		SNP	0.000	A	9	22
BAI3	577	genome.wustl.edu	37	6	69665971	69665971	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:69665971G>A	ENST00000370598.1	+	7	2072	c.1251G>A	c.(1249-1251)tcG>tcA	p.S417S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	417	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TAACGTGCTCGAATGGGACTC	0.537													ENSG00000135298																																					0													91.0	80.0	84.0					6																	69665971		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1251G>A	6.37:g.69665971G>A			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.S417	ENST00000370598.1	37	c.1251	CCDS4968.1	6																																																																																			-	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.537	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	0	0		27	27		0.00		G			69665971	+1	8		31		tier1	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	20.51		SNP	0.399	A	8	31
OGDHL	55753	genome.wustl.edu	37	10	50944182	50944182	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:50944182C>T	ENST00000374103.4	-	22	2881	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	OGDHL_ENST00000432695.1_Silent_p.E723E|OGDHL_ENST00000419399.1_Silent_p.E875E|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	932					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTGGGTACTTCTCTGCCTCCT	0.587													ENSG00000197444																																					0													75.0	63.0	67.0					10																	50944182		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2796G>A	10.37:g.50944182C>T			A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.E932	ENST00000374103.4	37	c.2796	CCDS7234.1	10																																																																																			-	OGDHL	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	0	0		25	25		0.00		C	NM_018245		50944182	-1	11		15		tier1	no_errors	ENST00000374103	ensembl	human	known	74_37	silent	42.31		SNP	1.000	T	11	15
PPP1R12B	4660	genome.wustl.edu	37	1	202318211	202318211	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:202318211C>T	ENST00000608999.1	+	1	385	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	PPP1R12B_ENST00000336894.4_Silent_p.L78L|PPP1R12B_ENST00000480184.1_Silent_p.L78L|PPP1R12B_ENST00000356764.2_Silent_p.L78L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	78					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGAAAGCTTCTGGCAAGAGG	0.612													ENSG00000077157																																					0													43.0	39.0	40.0					1																	202318211		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.232C>T	1.37:g.202318211C>T			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L78	ENST00000608999.1	37	c.232	CCDS1426.1	1																																																																																			-	PPP1R12B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt-contain_dom		0.612	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	0	0		12	12		0.00		C	NM_032105		202318211	+1	8		11		tier1	no_errors	ENST00000336894	ensembl	human	known	74_37	silent	42.11		SNP	0.965	T	8	11
MAP3K10	4294	genome.wustl.edu	37	19	40711137	40711137	+	Silent	SNP	C	C	T	rs563640107		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:40711137C>T	ENST00000253055.3	+	4	1410	c.1122C>T	c.(1120-1122)caC>caT	p.H374H	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	374					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGTCCTTCCACTCGCTGCAGG	0.567													ENSG00000130758																																					0													80.0	77.0	78.0					19																	40711137		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1122C>T	19.37:g.40711137C>T			Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.H374	ENST00000253055.3	37	c.1122	CCDS12549.1	19																																																																																			-	MAP3K10	-	pirsf_MAPKKK9/10/11		0.567	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	0	0		20	20		0.00		C	NM_002446		40711137	+1	6		22		tier1	no_errors	ENST00000253055	ensembl	human	known	74_37	silent	21.43		SNP	1.000	T	6	22
ELSPBP1	64100	genome.wustl.edu	37	19	48511991	48511991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:48511991G>T	ENST00000339841.2	+	2	245	c.67G>T	c.(67-69)Gga>Tga	p.G23*	ELSPBP1_ENST00000597519.1_Nonsense_Mutation_p.G23*	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	23					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TGAGTCAAGTGGAGGTAAGGA	0.478													ENSG00000169393																																					0													85.0	67.0	73.0					19																	48511991		2203	4300	6503	SO:0001587	stop_gained	0			-	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.67G>T	19.37:g.48511991G>T	ENSP00000340660:p.Gly23*		Q96RT0|Q9H4C8	Nonsense_Mutation	SNP	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.G23*	ENST00000339841.2	37	c.67	CCDS12708.1	19	.	.	.	.	.	.	.	.	.	.	g	18.15	3.559918	0.65538	.	.	ENSG00000169393	ENST00000339841	.	.	.	2.63	2.63	0.31362	.	0.000000	0.34531	N	0.003894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.9185	0.35596	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000340660:G23X	G	+	1	0	ELSPBP1	53203803	0.309000	0.24518	0.077000	0.20336	0.005000	0.04900	2.552000	0.45828	1.784000	0.52394	0.509000	0.49947	GGA	-	ELSPBP1	-	smart_FN_type2_col-bd		0.478	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ELSPBP1	HGNC	protein_coding	OTTHUMT00000465207.1	0	0		48	48		0.00		G			48511991	+1	4		45		tier1	no_errors	ENST00000339841	ensembl	human	known	74_37	nonsense	8.16		SNP	0.090	T	4	45
ANK1	286	genome.wustl.edu	37	8	41552192	41552192	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:41552192G>A	ENST00000347528.4	-	28	3328	c.3245C>T	c.(3244-3246)tCc>tTc	p.S1082F	ANK1_ENST00000396942.1_Missense_Mutation_p.S1082F|ANK1_ENST00000352337.4_Missense_Mutation_p.S1082F|ANK1_ENST00000289734.7_Missense_Mutation_p.S1082F|ANK1_ENST00000265709.8_Missense_Mutation_p.S1123F|ANK1_ENST00000379758.2_Missense_Mutation_p.S1082F|ANK1_ENST00000396945.1_Missense_Mutation_p.S1082F	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1082	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTCTTCAGGGAGCCCCCTTC	0.607													ENSG00000029534																																					0													105.0	90.0	95.0					8																	41552192		2203	4300	6503	SO:0001583	missense	0			-	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3245C>T	8.37:g.41552192G>A	ENSP00000339620:p.Ser1082Phe		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	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.S1082F	ENST00000347528.4	37	c.3245	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	2.823	-0.244361	0.05906	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.05	2.19	0.27852	.	0.923674	0.09307	N	0.820056	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0;0.001	B;B;B;B;B;B	0.16722	0.003;0.004;0.001;0.002;0.002;0.016	T	0.30995	-0.9959	10	0.46703	T	0.11	.	6.7315	0.23385	0.2365:0.1353:0.6283:0.0	.	1123;1082;1082;1082;1082;398	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	F	1082;1082;1082;1082;1082;1082;1123;1082	ENSP00000339620:S1082F;ENSP00000289734:S1082F;ENSP00000369082:S1082F;ENSP00000380149:S1082F;ENSP00000380147:S1082F;ENSP00000309131:S1082F;ENSP00000265709:S1123F	ENSP00000265709:S1123F	S	-	2	0	ANK1	41671349	0.000000	0.05858	0.001000	0.08648	0.219000	0.24729	0.924000	0.28777	0.214000	0.20742	0.462000	0.41574	TCC	-	ANK1	-	NULL		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	0	0		23	23		0.00		G	NM_020475		41552192	-1	16		18		tier1	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	47.06		SNP	0.000	A	16	18
EDC4	23644	genome.wustl.edu	37	16	67913638	67913638	+	Silent	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:67913638A>C	ENST00000358933.5	+	15	2021	c.1782A>C	c.(1780-1782)acA>acC	p.T594T	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	594					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGTTGATGACACCTGACGCCT	0.607													ENSG00000038358																																					0													147.0	124.0	132.0					16																	67913638		2198	4299	6497	SO:0001819	synonymous_variant	0			-	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1782A>C	16.37:g.67913638A>C			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T594	ENST00000358933.5	37	c.1782	CCDS10849.1	16																																																																																			-	EDC4	-	NULL		0.607	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	0	0		27	27		0.00		A	NM_014329		67913638	+1	11		15		tier1	no_errors	ENST00000358933	ensembl	human	known	74_37	silent	42.31		SNP	0.445	C	11	15
KIAA0513	9764	genome.wustl.edu	37	16	85112039	85112039	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:85112039C>T	ENST00000566428.1	+	7	1432	c.801C>T	c.(799-801)ccC>ccT	p.P267P	KIAA0513_ENST00000567328.1_Silent_p.P267P|KIAA0513_ENST00000258180.3_Silent_p.P267P|KIAA0513_ENST00000538274.1_Silent_p.P267P			O60268	K0513_HUMAN	KIAA0513	267						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		AGAACAAACCCCAGGAGAAGC	0.587													ENSG00000135709																																					0													54.0	52.0	53.0					16																	85112039		2198	4300	6498	SO:0001819	synonymous_variant	0			-	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.801C>T	16.37:g.85112039C>T			B4DSS5|D3DUM2|Q8N6G0	Silent	SNP	pfam_SBF2	p.P267	ENST00000566428.1	37	c.801	CCDS32499.1	16																																																																																			-	KIAA0513	-	NULL		0.587	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	0	0		16	16		0.00		C	NM_014732		85112039	+1	5		4		tier1	no_errors	ENST00000258180	ensembl	human	known	74_37	silent	55.56		SNP	0.999	T	5	4
USP42	84132	genome.wustl.edu	37	7	6193488	6193488	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:6193488G>A	ENST00000306177.5	+	15	2461	c.2303G>A	c.(2302-2304)gGc>gAc	p.G768D		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	768	Pro-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GCGGCCGCCGGCCTCAGCAGC	0.746													ENSG00000106346																																					0													3.0	5.0	4.0					7																	6193488		1483	3522	5005	SO:0001583	missense	0			-	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2303G>A	7.37:g.6193488G>A	ENSP00000301962:p.Gly768Asp		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G768D	ENST00000306177.5	37	c.2303	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373834	0.24857	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.15718	2.4;2.82	5.46	2.66	0.31614	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B;B;B	0.22414	0.041;0.069;0.041	B;B;B	0.21360	0.025;0.034;0.015	T	0.43376	-0.9395	9	0.12766	T	0.61	.	7.2705	0.26254	0.282:0.0:0.718:0.0	.	731;768;768	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	D	768;614	ENSP00000301962:G768D;ENSP00000408217:G614D	ENSP00000301962:G768D	G	+	2	0	USP42	.	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.744000	0.26245	0.266000	0.21894	0.655000	0.94253	GGC	-	USP42	-	NULL		0.746	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	0	0		32	32		0.00		G	XM_166526		6193488	+1	18		51		tier1	no_errors	ENST00000306177	ensembl	human	known	74_37	missense	26.09		SNP	0.001	A	18	51
HELQ	113510	genome.wustl.edu	37	4	84339339	84339339	+	Silent	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:84339339A>T	ENST00000295488.3	-	16	3132	c.2970T>A	c.(2968-2970)gtT>gtA	p.V990V	HELQ_ENST00000510985.1_Silent_p.V923V	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	990					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GGGCTCTGTAAACCCAAAACT	0.368								Other identified genes with known or suspected DNA repair function					ENSG00000163312																																					0													124.0	130.0	128.0					4																	84339339		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2970T>A	4.37:g.84339339A>T			Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V990	ENST00000295488.3	37	c.2970	CCDS3603.1	4																																																																																			-	HELQ	-	NULL		0.368	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	0	0		101	101		0.00		A	NM_133636		84339339	-1	37		84		tier1	no_errors	ENST00000295488	ensembl	human	known	74_37	silent	30.58		SNP	0.997	T	37	84
ELMOD2	255520	genome.wustl.edu	37	4	141446625	141446625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:141446625C>T	ENST00000323570.3	+	2	175	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ELMOD2_ENST00000511887.2_Nonsense_Mutation_p.R15*	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	15					defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GCACTTTTTTCGATTTTGGAT	0.383													ENSG00000179387																																					0													124.0	128.0	126.0					4																	141446625		2203	4300	6503	SO:0001587	stop_gained	0			-	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.43C>T	4.37:g.141446625C>T	ENSP00000326342:p.Arg15*		B2R712|D3DNZ0	Nonsense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.R15*	ENST00000323570.3	37	c.43	CCDS3752.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.869309	0.97049	.	.	ENSG00000179387	ENST00000323570;ENST00000507667;ENST00000502397	.	.	.	5.0	5.0	0.66597	.	0.062815	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2208	17.1017	0.86652	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000326342:R15X	R	+	1	2	ELMOD2	141666075	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	2.652000	0.46682	2.313000	0.78055	0.561000	0.74099	CGA	-	ELMOD2	-	NULL		0.383	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD2	HGNC	protein_coding	OTTHUMT00000257277.2	0	0		74	74		0.00		C	NM_153702		141446625	+1	25		66		tier1	no_errors	ENST00000323570	ensembl	human	known	74_37	nonsense	27.47		SNP	1.000	T	25	66
KRT12	3859	genome.wustl.edu	37	17	39022967	39022967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:39022967G>A	ENST00000251643.4	-	1	495	c.472C>T	c.(472-474)Cga>Tga	p.R158*		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	158	Coil 1A.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TACCATTCTCGAATTTTATTT	0.388													ENSG00000187242																																					0													116.0	118.0	117.0					17																	39022967		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.472C>T	17.37:g.39022967G>A	ENSP00000251643:p.Arg158*		B2R9E0	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R158*	ENST00000251643.4	37	c.472	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.348908	0.95807	.	.	ENSG00000187242	ENST00000251643	.	.	.	5.91	3.84	0.44239	.	0.172038	0.27640	N	0.018465	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1636	0.72803	0.0:0.0:0.6272:0.3728	.	.	.	.	X	158	.	ENSP00000251643:R158X	R	-	1	2	KRT12	36276493	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	1.249000	0.32839	1.488000	0.48433	-0.169000	0.13324	CGA	-	KRT12	-	pfam_IF		0.388	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2	0	0		39	39		0.00		G	NM_000223		39022967	-1	4		29		tier1	no_errors	ENST00000251643	ensembl	human	known	74_37	nonsense	12.12		SNP	0.997	A	4	29
C5orf42	65250	genome.wustl.edu	37	5	37169560	37169560	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:37169560G>A	ENST00000508244.1	-	33	6659	c.6566C>T	c.(6565-6567)cCa>cTa	p.P2189L	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2189L|C5orf42_ENST00000274258.7_Missense_Mutation_p.P1069L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2189						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGCAGGAGCTGGATAAAACGA	0.433													ENSG00000197603																																					0													76.0	78.0	78.0					5																	37169560		2203	4300	6503	SO:0001583	missense	0			-		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6566C>T	5.37:g.37169560G>A	ENSP00000421690:p.Pro2189Leu		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.P2189L	ENST00000508244.1	37	c.6566	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658466	0.47467	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26518	1.77;1.77;1.73;1.75	5.53	2.79	0.32731	.	0.483471	0.17947	N	0.156624	T	0.21841	0.0526	L	0.54323	1.7	0.09310	N	1	B;B	0.27140	0.047;0.169	B;B	0.28553	0.032;0.091	T	0.19877	-1.0292	10	0.33940	T	0.23	.	5.685	0.17797	0.1422:0.0:0.5845:0.2734	.	2189;1069	E9PH94;Q9H799	.;CE042_HUMAN	L	2189;2189;1069;1237;1069	ENSP00000421690:P2189L;ENSP00000389014:P2189L;ENSP00000274258:P1069L;ENSP00000424223:P1237L	ENSP00000274258:P1069L	P	-	2	0	C5orf42	37205317	0.004000	0.15560	0.000000	0.03702	0.030000	0.12068	0.792000	0.26929	0.286000	0.22352	0.655000	0.94253	CCA	-	C5orf42	-	NULL		0.433	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	0	0		59	59		0.00		G	NM_023073		37169560	-1	34		54		tier1	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	38.64		SNP	0.001	A	34	54
ECEL1	9427	genome.wustl.edu	37	2	233345431	233345431	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:233345431G>A	ENST00000304546.1	-	16	2358	c.2148C>T	c.(2146-2148)gcC>gcT	p.A716A	ECEL1_ENST00000409941.1_Silent_p.A714A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	716					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCCCACCTGGGCAAAGGCAA	0.637													ENSG00000171551																																					0													68.0	70.0	69.0					2																	233345431		2203	4300	6503	SO:0001819	synonymous_variant	0			-	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.2148C>T	2.37:g.233345431G>A			Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A716	ENST00000304546.1	37	c.2148	CCDS2493.1	2																																																																																			-	ECEL1	-	pfam_Peptidase_M13_C		0.637	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	0	0		58	58		0.00		G	NM_004826		233345431	-1	37		32		tier1	no_errors	ENST00000304546	ensembl	human	known	74_37	silent	53.62		SNP	0.998	A	37	32
PCID2	55795	genome.wustl.edu	37	13	113845241	113845241	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:113845241A>G	ENST00000337344.4	-	7	488	c.412T>C	c.(412-414)Ttg>Ctg	p.L138L	PCID2_ENST00000375459.1_Silent_p.L136L|PCID2_ENST00000375457.2_Silent_p.L136L|PCID2_ENST00000375477.1_Silent_p.L138L|PCID2_ENST00000375479.2_Silent_p.L138L|PCID2_ENST00000493650.1_5'Flank|PCID2_ENST00000246505.5_Silent_p.L192L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	138					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCTTTTTCCAACATGTCCCCA	0.443													ENSG00000126226																																					0													174.0	138.0	150.0					13																	113845241		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.412T>C	13.37:g.113845241A>G			A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	pfam_PCI_dom,smart_PAM	p.L192	ENST00000337344.4	37	c.574	CCDS9532.2	13																																																																																			-	PCID2	-	NULL		0.443	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	0	0		53	53		0.00		A	NM_018386		113845241	-1	17		50		tier1	no_errors	ENST00000246505	ensembl	human	known	74_37	silent	25.37		SNP	0.988	G	17	50
NYAP2	57624	genome.wustl.edu	37	2	226447297	226447297	+	Silent	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:226447297C>G	ENST00000272907.6	+	4	1577	c.1164C>G	c.(1162-1164)ccC>ccG	p.P388P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	388	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCCACGTCCCCGGCCATGCGA	0.667													ENSG00000144460																																					0													15.0	20.0	18.0					2																	226447297		1968	4128	6096	SO:0001819	synonymous_variant	0			-	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1164C>G	2.37:g.226447297C>G			A2RRN4|Q96NL2	Silent	SNP	NULL	p.P388	ENST00000272907.6	37	c.1164	CCDS46529.1	2																																																																																			-	NYAP2	-	NULL		0.667	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	0	0		44	44		0.00		C	NM_020864		226447297	+1	22		34		tier1	no_errors	ENST00000272907	ensembl	human	known	74_37	silent	39.29		SNP	0.093	G	22	34
SIK1	150094	genome.wustl.edu	37	21	44839293	44839293	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:44839293G>A	ENST00000270162.6	-	10	1317	c.1185C>T	c.(1183-1185)acC>acT	p.T395T		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	395					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	ACTGCACCAAGGTCTGCGGCT	0.667													ENSG00000142178																																					0													45.0	47.0	46.0					21																	44839293		2202	4300	6502	SO:0001819	synonymous_variant	0			-	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1185C>T	21.37:g.44839293G>A			A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T395	ENST00000270162.6	37	c.1185	CCDS33575.1	21																																																																																			-	SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2		0.667	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	0	0		59	59		0.00		G	NM_173354		44839293	-1	26		55		tier1	no_errors	ENST00000270162	ensembl	human	known	74_37	silent	32.10		SNP	0.003	A	26	55
DALRD3	55152	genome.wustl.edu	37	3	49053742	49053742	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49053742G>A	ENST00000341949.4	-	9	1184	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000313778.5_Missense_Mutation_p.S226F|DALRD3_ENST00000440857.1_Missense_Mutation_p.S226F|DALRD3_ENST00000395462.4_Missense_Mutation_p.S226F|DALRD3_ENST00000441576.2_Missense_Mutation_p.S393F	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	393					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCCTTCGTGGAGATACTGCT	0.527													ENSG00000178149																																					0													63.0	62.0	62.0					3																	49053742		2203	4300	6503	SO:0001583	missense	0			-	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1178C>T	3.37:g.49053742G>A	ENSP00000344989:p.Ser393Phe		Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	pfam_DALR_anticod-bd,superfamily_tRsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.S393F	ENST00000341949.4	37	c.1178	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918254	0.73098	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778	T;T;T;T;T	0.54675	0.56;0.64;0.63;0.58;0.63	5.69	5.69	0.88448	.	0.054165	0.85682	D	0.000000	T	0.71375	0.3332	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.999;0.979;0.999;0.956	T	0.72734	-0.4204	10	0.72032	D	0.01	-25.844	17.9955	0.89182	0.0:0.0:1.0:0.0	.	393;226;393;393	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	F	393;393;226;226;226	ENSP00000410623:S393F;ENSP00000344989:S393F;ENSP00000378846:S226F;ENSP00000403770:S226F;ENSP00000323265:S226F	ENSP00000323265:S226F	S	-	2	0	DALRD3	49028746	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	8.043000	0.89432	2.681000	0.91329	0.561000	0.74099	TCC	-	DALRD3	-	NULL		0.527	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	0	0		23	23		0.00		G	NM_018114		49053742	-1	19		37		tier1	no_errors	ENST00000341949	ensembl	human	known	74_37	missense	33.93		SNP	1.000	A	19	37
ACAD9	28976	genome.wustl.edu	37	3	128629615	128629615	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:128629615C>T	ENST00000308982.7	+	17	1805	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_Intron|KIAA1257_ENST00000511438.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	575						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCGTGGAAGCTTACTTGCAG	0.522													ENSG00000177646																																					0													177.0	180.0	179.0					3																	128629615		2203	4300	6503	SO:0001583	missense	0			-	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1724C>T	3.37:g.128629615C>T	ENSP00000312618:p.Ala575Val		D3DNB8|Q8WXX3	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A575V	ENST00000308982.7	37	c.1724	CCDS3053.1	3	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272328	0.59649	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.86627	-2.15	5.31	3.47	0.39725	.	0.147176	0.64402	N	0.000009	D	0.88489	0.6450	M	0.88181	2.935	0.80722	D	1	B	0.31752	0.338	B	0.35727	0.209	D	0.86353	0.1712	10	0.66056	D	0.02	.	8.8908	0.35432	0.0:0.7653:0.151:0.0836	.	575	Q9H845	ACAD9_HUMAN	V	575;442	ENSP00000312618:A575V	ENSP00000312618:A575V	A	+	2	0	ACAD9	130112305	0.991000	0.36638	0.332000	0.25469	0.701000	0.40568	3.826000	0.55738	0.688000	0.31529	0.655000	0.94253	GCT	-	ACAD9	-	superfamily_AcylCo_DH/oxidase_C		0.522	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	0	0		49	49		0.00		C	NM_014049		128629615	+1	20		31		tier1	no_errors	ENST00000308982	ensembl	human	known	74_37	missense	39.22		SNP	0.999	T	20	31
OR8H3	390152	genome.wustl.edu	37	11	55890478	55890478	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:55890478C>T	ENST00000313472.3	+	1	630	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	210						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)					TGATGGTGTCCCTTATCACAA	0.428													ENSG00000181761																																					0													195.0	177.0	183.0					11																	55890478		2201	4296	6497	SO:0001819	synonymous_variant	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.630C>T	11.37:g.55890478C>T			Q6IFB7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S210	ENST00000313472.3	37	c.630	CCDS31519.1	11																																																																																			-	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	0	0		64	64		0.00		C	NM_001005201		55890478	+1	14		58		tier1	no_errors	ENST00000313472	ensembl	human	known	74_37	silent	19.44		SNP	0.000	T	14	58
CDC42BPA	8476	genome.wustl.edu	37	1	227335252	227335252	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:227335252G>A	ENST00000366769.3	-	7	1993	c.702C>T	c.(700-702)tcC>tcT	p.S234S	CDC42BPA_ENST00000535525.1_Silent_p.S234S|CDC42BPA_ENST00000366765.3_Silent_p.S234S|CDC42BPA_ENST00000334218.5_Silent_p.S234S|CDC42BPA_ENST00000366766.2_Silent_p.S234S|CDC42BPA_ENST00000366764.2_Silent_p.S234S|CDC42BPA_ENST00000366767.3_Silent_p.S234S	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CAGCCACTGAGGACTGAACCT	0.333													ENSG00000143776																																					0													56.0	54.0	55.0					1																	227335252		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.702C>T	1.37:g.227335252G>A				Silent	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.S234	ENST00000366769.3	37	c.702	CCDS1558.1	1																																																																																			-	CDC42BPA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.333	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	0	0		35	35		0.00		G	NM_014826		227335252	-1	7		14		tier1	no_errors	ENST00000334218	ensembl	human	known	74_37	silent	33.33		SNP	1.000	A	7	14
HIF3A	64344	genome.wustl.edu	37	19	46832653	46832653	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:46832653G>A	ENST00000377670.4	+	12	1661	c.1630G>A	c.(1630-1632)Ggg>Agg	p.G544R	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.G475R|HIF3A_ENST00000300862.3_Missense_Mutation_p.G542R|HIF3A_ENST00000420102.2_Missense_Mutation_p.G493R|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000244303.6_Missense_Mutation_p.G475R|HIF3A_ENST00000339613.2_Missense_Mutation_p.G488R	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	544	ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACCCCGCTGGGGGAGTGACCC	0.687													ENSG00000124440																																					0													19.0	19.0	19.0					19																	46832653		2202	4296	6498	SO:0001583	missense	0			-	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1630G>A	19.37:g.46832653G>A	ENSP00000366898:p.Gly544Arg		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.G544R	ENST00000377670.4	37	c.1630	CCDS12681.2	19	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843723	0.51164	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.65178	0.61;-0.14;0.49;0.61;-0.14	4.54	4.54	0.55810	.	0.000000	0.41712	D	0.000824	T	0.64227	0.2579	L	0.27053	0.805	0.34631	D	0.719594	D;D;D;D;D;D	0.76494	0.999;0.997;0.998;0.997;0.997;0.997	D;D;D;P;P;P	0.74023	0.982;0.916;0.943;0.879;0.879;0.879	T	0.65162	-0.6235	10	0.15499	T	0.54	.	13.18	0.59649	0.0:0.0:1.0:0.0	.	493;475;542;488;544;544	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	R	544;544;475;488;488;542;493	ENSP00000366898:G544R;ENSP00000244303:G475R;ENSP00000341877:G488R;ENSP00000300862:G542R;ENSP00000407771:G493R	ENSP00000244302:G544R	G	+	1	0	HIF3A	51524493	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.914000	0.56401	2.252000	0.74401	0.655000	0.94253	GGG	-	HIF3A	-	NULL		0.687	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	0	0		48	48		0.00		G			46832653	+1	13		40		tier1	no_errors	ENST00000377670	ensembl	human	known	74_37	missense	24.53		SNP	1.000	A	13	40
MUC4	4585	genome.wustl.edu	37	3	195507565	195507565	+	Missense_Mutation	SNP	T	T	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:195507565T>G	ENST00000463781.3	-	2	11345	c.10886A>C	c.(10885-10887)cAg>cCg	p.Q3629P	MUC4_ENST00000475231.1_Missense_Mutation_p.Q3629P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGGTGGCCTGACCTGTGGA	0.592													ENSG00000145113																																					0													7.0	7.0	7.0					3																	195507565		598	1468	2066	SO:0001583	missense	0			-	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10886A>C	3.37:g.195507565T>G	ENSP00000417498:p.Gln3629Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.Q3629P	ENST00000463781.3	37	c.10886	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	T	1.622	-0.521275	0.04171	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35421	1.44;1.31	0.743	0.743	0.18347	.	.	.	.	.	T	0.19087	0.0458	N	0.19112	0.55	0.09310	N	1	B	0.19200	0.034	B	0.01281	0.0	T	0.24512	-1.0158	8	.	.	.	.	5.3688	0.16129	0.0:1.0E-4:0.0:0.9999	.	3501	E7ESK3	.	P	3629	ENSP00000417498:Q3629P;ENSP00000420243:Q3629P	.	Q	-	2	0	MUC4	196992344	0.008000	0.16893	0.003000	0.11579	0.005000	0.04900	-1.844000	0.01679	0.077000	0.16863	0.076000	0.15429	CAG	-	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	0	0		165	165		0.00		T	NM_018406		195507565	-1	23		221		tier1	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	9.43		SNP	0.332	G	23	221
SPOCK3	50859	genome.wustl.edu	37	4	167675837	167675837	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:167675837G>A	ENST00000357154.3	-	9	899	c.762C>T	c.(760-762)ggC>ggT	p.G254G	SPOCK3_ENST00000511531.1_Silent_p.G254G|SPOCK3_ENST00000511269.1_Silent_p.G251G|SPOCK3_ENST00000502330.1_Silent_p.G254G|SPOCK3_ENST00000504953.1_Silent_p.G251G|SPOCK3_ENST00000541354.1_Silent_p.G134G|SPOCK3_ENST00000534949.1_Silent_p.G158G|SPOCK3_ENST00000510741.1_Silent_p.G211G|SPOCK3_ENST00000421836.2_Silent_p.G203G|SPOCK3_ENST00000535728.1_Silent_p.G122G|SPOCK3_ENST00000357545.4_Silent_p.G251G|SPOCK3_ENST00000506886.1_Silent_p.G254G|SPOCK3_ENST00000512681.1_Silent_p.G156G|SPOCK3_ENST00000512648.1_Silent_p.G251G|SPOCK3_ENST00000541637.1_Silent_p.G156G|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	254					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TAAACATCCAGCCAAGTGAGT	0.378													ENSG00000196104																																					0													151.0	139.0	143.0					4																	167675837		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.762C>T	4.37:g.167675837G>A			B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.G254	ENST00000357154.3	37	c.762	CCDS54817.1	4																																																																																			-	SPOCK3	-	pfam_SPARC/Testican_Ca-bd-dom		0.378	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	0	0		42	42		0.00		G			167675837	-1	17		54		tier1	no_errors	ENST00000357154	ensembl	human	known	74_37	silent	23.94		SNP	0.957	A	17	54
PPEF1	5475	genome.wustl.edu	37	X	18725934	18725934	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:18725934G>A	ENST00000361511.4	+	4	529	c.35G>A	c.(34-36)aGa>aAa	p.R12K	PPEF1_ENST00000544635.1_5'UTR|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.R12K|PPEF1_ENST00000349874.5_Missense_Mutation_p.R12K|PPEF1_ENST00000543630.1_Missense_Mutation_p.R12K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	12					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAAACCAGGAGATCTGACACA	0.418													ENSG00000086717																																					0													144.0	116.0	126.0					X																	18725934		2203	4300	6503	SO:0001583	missense	0			-	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.35G>A	X.37:g.18725934G>A	ENSP00000354871:p.Arg12Lys		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.R12K	ENST00000361511.4	37	c.35	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.387675	0.00202	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.20200	3.43;3.29;3.27;2.09	5.52	-6.27	0.02026	.	1.214210	0.06109	N	0.666764	T	0.03608	0.0103	N	0.00289	-1.7	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.38779	-0.9645	10	0.02654	T	1	1.0476	8.7718	0.34737	0.3353:0.1328:0.5319:0.0	.	12;12;12	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	K	12	ENSP00000354871:R12K;ENSP00000352806:R12K;ENSP00000341892:R12K;ENSP00000437785:R12K	ENSP00000341892:R12K	R	+	2	0	PPEF1	18635855	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.357000	0.07651	-1.640000	0.01525	-1.894000	0.00533	AGA	-	PPEF1	-	pirsf_Ser/Thr-Pase_EF-hand_contain		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	0	0		37	37		0.00		G	NM_006240		18725934	+1	36		14		tier1	no_errors	ENST00000361511	ensembl	human	known	74_37	missense	72.00		SNP	0.000	A	36	14
ASB5	140458	genome.wustl.edu	37	4	177158510	177158510	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:177158510C>T	ENST00000296525.3	-	2	310				ASB5_ENST00000512254.1_Intron|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACTCACTAGCCTTCTTTTCGT	0.418													ENSG00000164122																																					0																																										SO:0001627	intron_variant	0			-	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.197-12018G>A	4.37:g.177158510C>T			Q8N7B5	R	SNP	-	NULL	ENST00000296525.3	37	NULL	CCDS3827.1	4																																																																																			-	ASB5	-	-		0.418	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB5	HGNC	protein_coding	OTTHUMT00000362344.1	0	0		69	69		0.00		C			177158510	-1	40		56		tier1	no_errors	ENST00000511879	ensembl	human	known	74_37	rna	41.67		SNP	1.000	T	40	56
GVINP1	387751	genome.wustl.edu	37	11	6738517	6738517	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6738517C>T	ENST00000526769.3	-	0	4687					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AAGCCAAGTTCCTCCGTGAAT	0.493													ENSG00000254838																																					0																																												0			-	BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6738517C>T			A6NFL2|Q9H8N5	R	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			-	GVINP1	-	-		0.493	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	0	0		31	31		0.00		C	NR_003945		6738517	-1	8		30		tier1	no_errors	ENST00000526769	ensembl	human	known	74_37	rna	21.05		SNP	0.978	T	8	30
DVL3	1857	genome.wustl.edu	37	3	183884038	183884038	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183884038A>G	ENST00000313143.3	+	8	1136	c.888A>G	c.(886-888)ggA>ggG	p.G296G	DVL3_ENST00000431765.1_Silent_p.G296G|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	296	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TCGAGCCAGGAGATATGTTGT	0.582													ENSG00000161202																																					0													82.0	73.0	76.0					3																	183884038		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.888A>G	3.37:g.183884038A>G			B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3	p.G296	ENST00000313143.3	37	c.888	CCDS3253.1	3																																																																																			-	DVL3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.582	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DVL3	HGNC	protein_coding	OTTHUMT00000346184.1	0	0		30	30		0.00		A	NM_004423		183884038	+1	10		33		tier1	no_errors	ENST00000313143	ensembl	human	known	74_37	silent	23.26		SNP	0.936	G	10	33
CPXM1	56265	genome.wustl.edu	37	20	2776316	2776316	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:2776316G>A	ENST00000380605.2	-	11	1713	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	550					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCTGTGGCAGGGTCGGCGGCT	0.627													ENSG00000088882																																					0													59.0	51.0	53.0					20																	2776316		2203	4300	6503	SO:0001583	missense	0			-	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1649C>T	20.37:g.2776316G>A	ENSP00000369979:p.Pro550Leu		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.P550L	ENST00000380605.2	37	c.1649	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557636	0.27827	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	D	0.95588	-3.75	5.15	4.2	0.49525	Peptidase M14, carboxypeptidase A (2);	0.611557	0.17853	N	0.159778	D	0.93099	0.7803	M	0.72894	2.215	0.49299	D	0.999777	B	0.09022	0.002	B	0.12156	0.007	D	0.88715	0.3225	10	0.23891	T	0.37	-12.3612	8.0161	0.30383	0.1804:0.0:0.8196:0.0	.	550	Q96SM3	CPXM1_HUMAN	L	550;246	ENSP00000369979:P550L	ENSP00000369979:P550L	P	-	2	0	CPXM1	2724316	0.000000	0.05858	0.997000	0.53966	0.980000	0.70556	-0.074000	0.11450	1.407000	0.46875	0.563000	0.77884	CCC	-	CPXM1	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.627	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	0	0		56	56		0.00		G	NM_019609		2776316	-1	32		47		tier1	no_errors	ENST00000380605	ensembl	human	known	74_37	missense	40.51		SNP	0.900	A	32	47
ECHDC3	79746	genome.wustl.edu	37	10	11805393	11805393	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:11805393C>T	ENST00000379215.4	+	5	973	c.762C>T	c.(760-762)acC>acT	p.T254T	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	254						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GCAAAGCCACCTTCTACAAGC	0.652													ENSG00000134463																																					0													66.0	55.0	58.0					10																	11805393		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.762C>T	10.37:g.11805393C>T			Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	pfam_Crotonase_core_superfam	p.T254	ENST00000379215.4	37	c.762	CCDS7084.1	10																																																																																			-	ECHDC3	-	NULL		0.652	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC3	HGNC	protein_coding	OTTHUMT00000046771.1	0	0		61	61		0.00		C	NM_024693		11805393	+1	21		66		tier1	no_errors	ENST00000379215	ensembl	human	known	74_37	silent	24.14		SNP	1.000	T	21	66
TNS1	7145	genome.wustl.edu	37	2	218682868	218682868	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:218682868A>T	ENST00000171887.4	-	24	4327	c.3875T>A	c.(3874-3876)aTa>aAa	p.I1292K	TNS1_ENST00000430930.1_Missense_Mutation_p.I1271K|TNS1_ENST00000419504.1_Missense_Mutation_p.I1279K	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1292					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGCTGGCTATTGCATTGCT	0.667													ENSG00000079308																																					0													22.0	22.0	22.0					2																	218682868		2203	4297	6500	SO:0001583	missense	0			-	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3875T>A	2.37:g.218682868A>T	ENSP00000171887:p.Ile1292Lys		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I1292K	ENST00000171887.4	37	c.3875	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	A	5.088	0.201792	0.09652	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91407	-2.82;2.2;-2.84;-2.83	4.83	2.47	0.30058	.	1.695990	0.03138	N	0.166239	T	0.81297	0.4793	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.27068	0.167;0.026;0.028	B;B;B	0.20184	0.028;0.018;0.016	T	0.71593	-0.4546	10	0.42905	T	0.14	.	7.2285	0.26028	0.8206:0.0:0.1794:0.0	.	1292;1271;1279	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	K	1292;430;1279;1271	ENSP00000171887:I1292K;ENSP00000394171:I430K;ENSP00000408724:I1279K;ENSP00000406016:I1271K	ENSP00000171887:I1292K	I	-	2	0	TNS1	218391113	0.010000	0.17322	0.002000	0.10522	0.119000	0.20118	1.648000	0.37271	0.818000	0.34468	0.460000	0.39030	ATA	-	TNS1	-	NULL		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	0	0		61	61		0.00		A	NM_022648		218682868	-1	56		57		tier1	no_errors	ENST00000171887	ensembl	human	known	74_37	missense	49.56		SNP	0.001	T	56	57
DHCR24	1718	genome.wustl.edu	37	1	55340802	55340802	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:55340802C>T	ENST00000371269.3	-	4	674	c.576G>A	c.(574-576)ctG>ctA	p.L192L	DHCR24_ENST00000537443.1_Silent_p.L24L|DHCR24_ENST00000535035.1_Silent_p.L151L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	192	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CAGCCAGGACCAGCTCGTAAG	0.557													ENSG00000116133																									Pancreas(39;516 1021 24601 30715 32780)												0													166.0	116.0	133.0					1																	55340802		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.576G>A	1.37:g.55340802C>T			B7Z817|D3DQ51|Q9HBA8	Silent	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.L192	ENST00000371269.3	37	c.576	CCDS600.1	1																																																																																			-	DHCR24	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2		0.557	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	HGNC	protein_coding	OTTHUMT00000027680.1	0	0		33	33		0.00		C	NM_014762		55340802	-1	19		33		tier1	no_errors	ENST00000371269	ensembl	human	known	74_37	silent	36.54		SNP	1.000	T	19	33
NEDD9	4739	genome.wustl.edu	37	6	11185840	11185840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:11185840C>T	ENST00000379446.5	-	7	2226	c.2060G>A	c.(2059-2061)tGg>tAg	p.W687*	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Nonsense_Mutation_p.W687*	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	687					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AGAGGGCTTCCACTTCGAGAT	0.498													ENSG00000111859																																					0													121.0	111.0	114.0					6																	11185840		2203	4300	6503	SO:0001587	stop_gained	0			-	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2060G>A	6.37:g.11185840C>T	ENSP00000368759:p.Trp687*		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Nonsense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.W687*	ENST00000379446.5	37	c.2060	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	C	42	9.467970	0.99180	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	.	.	.	5.98	5.98	0.97165	.	0.056049	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2982	20.4496	0.99125	0.0:1.0:0.0:0.0	.	.	.	.	X	687	.	ENSP00000368759:W687X	W	-	2	0	NEDD9	11293826	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.378000	0.79679	2.838000	0.97847	0.563000	0.77884	TGG	-	NEDD9	-	pfam_CAS_DUF3513		0.498	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	0	0		41	41		0.00		C	NM_006403		11185840	-1	22		39		tier1	no_errors	ENST00000379446	ensembl	human	known	74_37	nonsense	36.07		SNP	1.000	T	22	39
CDH12	1010	genome.wustl.edu	37	5	21817074	21817074	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:21817074C>T	ENST00000382254.1	-	9	2068	c.982G>A	c.(982-984)Gga>Aga	p.G328R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G288R|CDH12_ENST00000504376.2_Missense_Mutation_p.G328R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGATGACTCCCTCTTGTGTA	0.318										HNSCC(59;0.17)			ENSG00000154162																																					0													143.0	144.0	144.0					5																	21817074		2203	4300	6503	SO:0001583	missense	0			-	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.982G>A	5.37:g.21817074C>T	ENSP00000371689:p.Gly328Arg		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G328R	ENST00000382254.1	37	c.982	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726983	0.89390	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.56941	0.43;0.43;0.43	5.06	5.06	0.68205	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	H	0.99712	4.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92667	0.6146	10	0.87932	D	0	.	18.7892	0.91966	0.0:1.0:0.0:0.0	.	288;328	B7Z2U6;P55289	.;CAD12_HUMAN	R	328;328;288	ENSP00000423577:G328R;ENSP00000371689:G328R;ENSP00000428786:G288R	ENSP00000371689:G328R	G	-	1	0	CDH12	21852831	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.361000	0.79497	2.483000	0.83821	0.650000	0.86243	GGA	-	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.318	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	0	0		43	43		0.00		C	NM_004061		21817074	-1	15		48		tier1	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	23.44		SNP	1.000	T	15	48
NOTCH2	4853	genome.wustl.edu	37	1	120510232	120510232	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:120510232G>A	ENST00000256646.2	-	8	1496	c.1277C>T	c.(1276-1278)cCt>cTt	p.P426L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	426	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGCTCACAAGGATTGCTATT	0.448			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				ENSG00000134250																												Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													124.0	99.0	107.0					1																	120510232		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1277C>T	1.37:g.120510232G>A	ENSP00000256646:p.Pro426Leu		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P426L	ENST00000256646.2	37	c.1277	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.080476	0.94050	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.88586	-2.4	5.86	5.86	0.93980	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.35407	U	0.003239	D	0.94394	0.8197	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92054	0.5651	10	0.26408	T	0.33	.	19.1719	0.93581	0.0:0.0:1.0:0.0	.	387;426;426	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	L	426;387	ENSP00000256646:P426L	ENSP00000256646:P426L	P	-	2	0	NOTCH2	120311755	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.774000	0.95407	0.650000	0.86243	CCT	-	NOTCH2	-	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.448	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	0	0		57	57		0.00		G	NM_024408		120510232	-1	17		28		tier1	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	37.78		SNP	1.000	A	17	28
OR5L1	219437	genome.wustl.edu	37	11	55579651	55579651	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:55579651G>A	ENST00000333973.2	+	1	798	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CAGGCACAAAGCCTTCTCCAC	0.502													ENSG00000186117																																					0													192.0	156.0	169.0					11																	55579651		2200	4296	6496	SO:0001583	missense	0			-	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.709G>A	11.37:g.55579651G>A	ENSP00000335529:p.Ala237Thr		B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237T	ENST00000333973.2	37	c.709	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	g	18.23	3.576897	0.65878	.	.	ENSG00000186117	ENST00000333973	T	0.00357	7.89	4.12	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.00496	0.0016	M	0.72118	2.19	0.38393	D	0.945466	P	0.48589	0.912	P	0.51297	0.665	T	0.77686	-0.2495	10	0.66056	D	0.02	-14.3821	12.7554	0.57333	0.0:0.1663:0.8336:0.0	.	237	Q8NGL2	OR5L1_HUMAN	T	237	ENSP00000335529:A237T	ENSP00000335529:A237T	A	+	1	0	OR5L1	55336227	1.000000	0.71417	0.076000	0.20297	0.834000	0.47266	4.753000	0.62183	0.726000	0.32339	0.428000	0.28381	GCC	-	OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	0	0		58	58		0.00		G	NM_001004738		55579651	+1	10		42		tier1	no_errors	ENST00000333973	ensembl	human	known	74_37	missense	19.23		SNP	1.000	A	10	42
LYPLA1	10434	genome.wustl.edu	37	8	54960518	54960519	+	3'UTR	INS	-	-	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:54960518_54960519insT	ENST00000316963.3	-	0	992_993				RP11-30L15.6_ENST00000565668.2_lincRNA|LYPLA1_ENST00000343231.6_3'UTR	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I						fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TTTGCAAAACATTTTAACACTG	0.337													ENSG00000120992																																					0																																										SO:0001624	3_prime_UTR_variant	0				AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.*107->A	8.37:g.54960522_54960522dupT			O43202|Q9UQF9	R	INS	-	NULL	ENST00000316963.3	37	NULL	CCDS6157.1	8																																																																																				LYPLA1	-	-		0.337	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	HGNC	protein_coding	OTTHUMT00000378238.1	0	0		68	68		0.00		-			54960519	-1	26		68		tier1	no_errors	ENST00000519272	ensembl	human	known	74_37	rna	27.66		INS	0.982:0.984	T	26	68
PNLIPRP1	5407	genome.wustl.edu	37	10	118354011	118354011	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:118354011G>A	ENST00000528052.1	+	5	401				PNLIPRP1_ENST00000534537.1_Intron|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000358834.4_Intron			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GGAAACCAGAGAGTAGCCAGC	0.408													ENSG00000187021																																					0																																										SO:0001627	intron_variant	0			-	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.331-231G>A	10.37:g.118354011G>A			Q68D83|Q68DR6|Q8TAU2|Q9BS82	R	SNP	-	NULL	ENST00000528052.1	37	NULL	CCDS7595.1	10																																																																																			-	PNLIPRP1	-	-		0.408	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	0	0		17	17		0.00		G	NM_006229		118354011	+1	9		21		tier1	no_errors	ENST00000480870	ensembl	human	known	74_37	rna	30.00		SNP	0.000	A	9	21
TCEB2	6923	genome.wustl.edu	37	16	2825483	2825483	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:2825483G>A	ENST00000409906.4	-	3	270	c.213C>T	c.(211-213)gcC>gcT	p.A71A	TCEB2_ENST00000409477.1_Silent_p.A66A|TCEB2_ENST00000262306.7_Silent_p.A71A|TCEB2_ENST00000572954.1_Intron	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	71					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						CTGTGGCTGGGGCCTGTGGCC	0.602													ENSG00000103363																									GBM(141;5215 5962)												0													38.0	41.0	40.0					16																	2825483		2198	4300	6498	SO:0001819	synonymous_variant	0			-	L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"""transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"""			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.213C>T	16.37:g.2825483G>A			B7WPD3	Silent	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.A71	ENST00000409906.4	37	c.213	CCDS45387.1	16																																																																																			-	TCEB2	-	smart_Ubiquitin_dom		0.602	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB2	HGNC	protein_coding	OTTHUMT00000333975.2	0	0		48	48		0.00		G	NM_007108		2825483	-1	8		51		tier1	no_errors	ENST00000262306	ensembl	human	known	74_37	silent	13.33		SNP	0.996	A	8	51
NLRP8	126205	genome.wustl.edu	37	19	56467043	56467043	+	Missense_Mutation	SNP	G	G	C	rs372284254		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:56467043G>C	ENST00000291971.3	+	3	1690	c.1619G>C	c.(1618-1620)cGc>cCc	p.R540P	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R540L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATATCCAGCGCCTGATAGCG	0.463													ENSG00000179709																																					1	Substitution - Missense(1)	kidney(1)											104.0	101.0	102.0					19																	56467043		2203	4300	6503	SO:0001583	missense	0			-	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1619G>C	19.37:g.56467043G>C	ENSP00000291971:p.Arg540Pro		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.R540P	ENST00000291971.3	37	c.1619	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600614	0.13939	.	.	ENSG00000179709	ENST00000291971	D	0.88277	-2.36	2.04	-1.42	0.08913	.	.	.	.	.	D	0.86037	0.5837	L	0.39147	1.195	0.09310	N	1	D;P	0.62365	0.991;0.592	P;B	0.55112	0.769;0.31	T	0.75572	-0.3271	9	0.30854	T	0.27	.	5.0065	0.14291	0.5224:0.0:0.4776:0.0	.	540;540	Q86W28-2;Q86W28	.;NALP8_HUMAN	P	540	ENSP00000291971:R540P	ENSP00000291971:R540P	R	+	2	0	NLRP8	61158855	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.459000	0.06728	-0.281000	0.09141	-0.346000	0.07831	CGC	-	NLRP8	-	NULL		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	0	0		58	58		0.00		G	NM_176811		56467043	+1	9		49		tier1	no_errors	ENST00000291971	ensembl	human	known	74_37	missense	15.52		SNP	0.000	C	9	49
STX17	55014	genome.wustl.edu	37	9	102677427	102677427	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:102677427G>A	ENST00000259400.6	+	2	74				STX17_ENST00000525640.1_Intron|STX17_ENST00000534052.1_Intron|RP11-60I3.4_ENST00000524512.1_RNA	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17						autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AAACAGATTTGAAAACATTCT	0.289													ENSG00000254571																																					0																																										SO:0001627	intron_variant	0			-	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.-62-33G>A	9.37:g.102677427G>A			Q4VXC2	R	SNP	-	NULL	ENST00000259400.6	37	NULL	CCDS6745.1	9																																																																																			-	RP11-60I3.4	-	-		0.289	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000254571	Clone_based_vega_gene	protein_coding	OTTHUMT00000053398.3	0	0		47	47		0.00		G	NM_017919		102677427	-1	15		18		tier1	no_errors	ENST00000524512	ensembl	human	known	74_37	rna	45.45		SNP	0.000	A	15	18
SALL2	6297	genome.wustl.edu	37	14	21993214	21993214	+	Silent	SNP	C	C	T	rs558593053		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:21993214C>T	ENST00000327430.3	-	2	942	c.648G>A	c.(646-648)acG>acA	p.T216T	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	216					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(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGCACCCACCGTCTGGCCTA	0.597													ENSG00000165821																																					0													39.0	40.0	39.0					14																	21993214		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.648G>A	14.37:g.21993214C>T			B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T216	ENST00000327430.3	37	c.648	CCDS32045.1	14																																																																																			-	SALL2	-	NULL		0.597	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1	0	0		66	66		0.00		C	NM_005407		21993214	-1	34		39		tier1	no_errors	ENST00000327430	ensembl	human	known	74_37	silent	46.58		SNP	0.004	T	34	39
PTPN21	11099	genome.wustl.edu	37	14	88945912	88945912	+	Missense_Mutation	SNP	G	G	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:88945912G>C	ENST00000556564.1	-	13	2147	c.1863C>G	c.(1861-1863)agC>agG	p.S621R	PTPN21_ENST00000328736.3_Missense_Mutation_p.S621R	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	621					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						TGAGGGGCTCGCTGACCTCCT	0.706													ENSG00000070778																																					0													20.0	21.0	21.0					14																	88945912		2194	4284	6478	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.1863C>G	14.37:g.88945912G>C	ENSP00000452414:p.Ser621Arg			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.S621R	ENST00000556564.1	37	c.1863	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712575	0.68730	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.79454	-1.27;-1.27	5.17	0.0752	0.14398	.	0.095192	0.64402	D	0.000001	D	0.84951	0.5586	M	0.78637	2.42	0.37664	D	0.922887	D	0.89917	1.0	D	0.83275	0.996	D	0.85064	0.0936	10	0.87932	D	0	.	9.2903	0.37782	0.4934:0.0:0.5066:0.0	.	621	Q16825	PTN21_HUMAN	R	621	ENSP00000330276:S621R;ENSP00000452414:S621R	ENSP00000330276:S621R	S	-	3	2	PTPN21	88015665	0.960000	0.32886	1.000000	0.80357	0.896000	0.52359	0.023000	0.13533	0.184000	0.20083	0.591000	0.81541	AGC	-	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21		0.706	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	0	0		30	30		0.00		G			88945912	-1	24		16		tier1	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	60.00		SNP	0.999	C	24	16
MUC16	94025	genome.wustl.edu	37	19	9061119	9061119	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:9061119G>A	ENST00000397910.4	-	3	26530	c.26327C>T	c.(26326-26328)cCc>cTc	p.P8776L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8778	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						CGTGGTGAGGGGAGTAGAAAT	0.498													ENSG00000181143																																					0													152.0	136.0	141.0					19																	9061119		1967	4158	6125	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.26327C>T	19.37:g.9061119G>A	ENSP00000381008:p.Pro8776Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P8776L	ENST00000397910.4	37	c.26327	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	N	4.982	0.182368	0.09495	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	2.28	-1.76	0.08006	.	.	.	.	.	T	0.02193	0.0068	N	0.19112	0.55	.	.	.	B	0.31174	0.311	B	0.27076	0.076	T	0.43766	-0.9371	8	0.87932	D	0	.	2.4683	0.04558	0.3013:0.0:0.4683:0.2305	.	8776	B5ME49	.	L	8776	ENSP00000381008:P8776L	ENSP00000381008:P8776L	P	-	2	0	MUC16	8922119	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.776000	0.04674	-0.266000	0.09339	0.298000	0.19748	CCC	-	MUC16	-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0		57	57		0.00		G	NM_024690		9061119	-1	13		60		tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	17.81		SNP	0.000	A	13	60
RYR3	6263	genome.wustl.edu	37	15	34147010	34147010	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:34147010G>A	ENST00000389232.4	+	98	13974	c.13904G>A	c.(13903-13905)gGc>gAc	p.G4635D	RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.G4630D|RP11-3D4.3_ENST00000560404.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4635					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)		TCAGTCCTGGGCCACTACAAT	0.443													ENSG00000198838																																					0													251.0	237.0	242.0					15																	34147010		2004	4185	6189	SO:0001583	missense	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.13904G>A	15.37:g.34147010G>A	ENSP00000373884:p.Gly4635Asp		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.G4635D	ENST00000389232.4	37	c.13904	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.100315	0.94245	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98567	-5.0	4.72	4.72	0.59763	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98748	1.0719	10	0.87932	D	0	.	18.2253	0.89915	0.0:0.0:1.0:0.0	.	4630;4635	Q15413-2;Q15413	.;RYR3_HUMAN	D	4635;4631	ENSP00000373884:G4635D	ENSP00000354735:G4631D	G	+	2	0	RYR3	31934302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.441000	0.97557	2.601000	0.87937	0.585000	0.79938	GGC	-	RYR3	-	pfam_Ion_trans_dom		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	0	0		64	64		0.00		G			34147010	+1	25		18		tier1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	58.14		SNP	1.000	A	25	18
KRT5	3852	genome.wustl.edu	37	12	52912820	52912820	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:52912820C>T	ENST00000252242.4	-	2	1070	c.680G>A	c.(679-681)aGg>aAg	p.R227K		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	227	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCTGCCTCCTGAGGTTGTT	0.577													ENSG00000186081																																					0													156.0	146.0	149.0					12																	52912820		2203	4300	6503	SO:0001583	missense	0			-		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.680G>A	12.37:g.52912820C>T	ENSP00000252242:p.Arg227Lys		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R227K	ENST00000252242.4	37	c.680	CCDS8830.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.323257|4.323257	0.81580|0.81580	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000551188|ENST00000252242;ENST00000456000;ENST00000549420	.|D;D	.|0.91740	.|-2.9;-2.9	5.31|5.31	3.47|3.47	0.39725|0.39725	.|Filament (1);	.|0.102804	.|0.37437	.|N	.|0.002081	D|D	0.91503|0.91503	0.7317|0.7317	M|M	0.76328|0.76328	2.33|2.33	0.30351|0.30351	N|N	0.784764|0.784764	.|B	.|0.31581	.|0.329	.|B	.|0.37091	.|0.241	D|D	0.89161|0.89161	0.3530|0.3530	5|10	.|0.62326	.|D	.|0.03	.|.	11.117|11.117	0.48266|0.48266	0.0:0.7914:0.0:0.2086|0.0:0.7914:0.0:0.2086	.|.	.|227	.|P13647	.|K2C5_HUMAN	R|K	28|227;192;117	.|ENSP00000252242:R227K;ENSP00000447209:R117K	.|ENSP00000252242:R227K	G|R	-|-	1|2	0|0	KRT5|KRT5	51199087|51199087	0.001000|0.001000	0.12720|0.12720	0.981000|0.981000	0.43875|0.43875	0.988000|0.988000	0.76386|0.76386	1.533000|1.533000	0.36040|0.36040	0.786000|0.786000	0.33708|0.33708	0.655000|0.655000	0.94253|0.94253	GGA|AGG	-	KRT5	-	pfam_IF		0.577	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	0	0		79	79		0.00		C			52912820	-1	18		80		tier1	no_errors	ENST00000252242	ensembl	human	known	74_37	missense	18.37		SNP	0.997	T	18	80
WDR87	83889	genome.wustl.edu	37	19	38375718	38375718	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38375718G>T	ENST00000303868.5	-	6	8700	c.8476C>A	c.(8476-8478)Ccc>Acc	p.P2826T	WDR87_ENST00000447313.2_Missense_Mutation_p.P2865T	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2826										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						CATGGGAGGGGTACCGCACCC	0.562													ENSG00000171804																																					0													45.0	50.0	48.0					19																	38375718		692	1591	2283	SO:0001583	missense	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.8476C>A	19.37:g.38375718G>T	ENSP00000368025:p.Pro2826Thr		Q9BWV9	Missense_Mutation	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.P2865T	ENST00000303868.5	37	c.8593	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	9.150	1.015918	0.19355	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.57273	0.41;0.41	4.81	-7.02	0.01589	.	.	.	.	.	T	0.28566	0.0707	N	0.24115	0.695	0.09310	N	1	B;B	0.28082	0.2;0.2	B;B	0.24701	0.055;0.055	T	0.25398	-1.0133	9	0.66056	D	0.02	.	2.5961	0.04855	0.4775:0.1208:0.2786:0.1231	.	2826;2865	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	T	2865;2826	ENSP00000405012:P2865T;ENSP00000368025:P2826T	ENSP00000368025:P2826T	P	-	1	0	WDR87	43067558	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.974000	0.03794	-1.205000	0.02645	0.455000	0.32223	CCC	-	WDR87	-	NULL		0.562	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	0	0		33	33		0.00		G	XM_940478		38375718	-1	15		57		tier1	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	20.83		SNP	0.000	T	15	57
MAX	4149	genome.wustl.edu	37	14	65560416	65560416	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:65560416G>A	ENST00000358664.4	-	3	302				MAX_ENST00000246163.2_Intron|RP11-840I19.3_ENST00000555261.1_RNA|RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000284165.6_Intron|MAX_ENST00000556443.1_Intron|MAX_ENST00000557746.1_Intron|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000555932.1_Intron|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000556979.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000555419.1_Intron|MAX_ENST00000358402.4_Intron|MAX_ENST00000555667.1_Intron|MAX_ENST00000557277.1_Intron	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X						cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		AGCTTTCTCAGGAAACTCACC	0.473													ENSG00000259118																																					0													119.0	102.0	108.0					14																	65560416		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.171+9C>T	14.37:g.65560416G>A			A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	R	SNP	-	NULL	ENST00000358664.4	37	NULL	CCDS9771.1	14																																																																																			-	RP11-840I19.3	-	-		0.473	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506321	Clone_based_vega_gene	protein_coding	OTTHUMT00000286386.1	0	0		42	42		0.00		G	NM_197957		65560416	+1	19		25		tier1	no_errors	ENST00000553633	ensembl	human	known	74_37	rna	43.18		SNP	0.414	A	19	25
GABRE	2564	genome.wustl.edu	37	X	151123886	151123886	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:151123886A>C	ENST00000370328.3	-	8	1144	c.1091T>G	c.(1090-1092)cTg>cGg	p.L364R	GABRE_ENST00000483564.1_5'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.L364R	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	364					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTGTAGATCAGGAAGTTGAG	0.498													ENSG00000102287																																					0													116.0	101.0	106.0					X																	151123886		2203	4300	6503	SO:0001583	missense	0			-	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1091T>G	X.37:g.151123886A>C	ENSP00000359353:p.Leu364Arg		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L364R	ENST00000370328.3	37	c.1091	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908337	0.52333	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.85955	-2.05;-2.05	5.78	5.78	0.91487	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.800688	0.10468	N	0.671124	D	0.91439	0.7298	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88321	0.2962	10	0.87932	D	0	.	12.8406	0.57800	1.0:0.0:0.0:0.0	.	364	P78334	GBRE_HUMAN	R	364	ENSP00000359353:L364R;ENSP00000359350:L364R	ENSP00000359350:L364R	L	-	2	0	GABRE	150874542	1.000000	0.71417	0.995000	0.50966	0.187000	0.23431	5.134000	0.64770	1.940000	0.56252	0.486000	0.48141	CTG	-	GABRE	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel		0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	0	0		14	14		0.00		A	NM_004961, NM_021990, NM_021984		151123886	-1	8		14		tier1	no_errors	ENST00000370328	ensembl	human	known	74_37	missense	36.36		SNP	1.000	C	8	14
RABL6	55684	genome.wustl.edu	37	9	139732377	139732377	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139732377A>T	ENST00000311502.7	+	10	1426	c.1190A>T	c.(1189-1191)gAc>gTc	p.D397V	RABL6_ENST00000371675.3_Missense_Mutation_p.D282V|RABL6_ENST00000371663.4_Missense_Mutation_p.D398V|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_Missense_Mutation_p.D359V			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	397					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GTTCCTGACGACCGCCTGGAC	0.652													ENSG00000196642																																					0													25.0	27.0	27.0					9																	139732377		1969	4100	6069	SO:0001583	missense	0			-	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1190A>T	9.37:g.139732377A>T	ENSP00000311134:p.Asp397Val		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.D398V	ENST00000311502.7	37	c.1193	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	.	12.65	2.002556	0.35320	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000432842;ENST00000371675;ENST00000435930	T;T;T;T;T	0.69685	-0.36;-0.36;0.62;-0.37;-0.42	4.29	3.14	0.36123	.	0.133486	0.51477	D	0.000095	T	0.71358	0.3330	L	0.41027	1.25	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.988;0.989;0.975	T	0.69083	-0.5239	10	0.52906	T	0.07	-19.1503	8.9663	0.35879	0.9105:0.0:0.0895:0.0	.	191;398;397	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	V	398;397;359;282;191	ENSP00000360727:D398V;ENSP00000311134:D397V;ENSP00000414081:D359V;ENSP00000360740:D282V;ENSP00000408442:D191V	ENSP00000311134:D397V	D	+	2	0	C9orf86	138852198	1.000000	0.71417	0.058000	0.19502	0.025000	0.11179	6.665000	0.74442	0.522000	0.28464	0.260000	0.18958	GAC	-	RABL6	-	NULL		0.652	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4	0	0		67	67		0.00		A	NM_024718		139732377	+1	29		66		tier1	no_errors	ENST00000371663	ensembl	human	known	74_37	missense	30.21		SNP	0.863	T	29	66
FYN	2534	genome.wustl.edu	37	6	112021423	112021423	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:112021423C>T	ENST00000354650.3	-	9	1352	c.746G>A	c.(745-747)gGg>gAg	p.G249E	FYN_ENST00000368667.2_Missense_Mutation_p.G249E|FYN_ENST00000356013.2_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000368682.3_Intron|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000538466.1_Intron|FYN_ENST00000229470.5_Intron|FYN_ENST00000368678.4_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	249					activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CCTTGGCATCCCTTTGTGACA	0.527													ENSG00000010810																																					0													117.0	109.0	112.0					6																	112021423		2203	4300	6503	SO:0001583	missense	0			-	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.746G>A	6.37:g.112021423C>T	ENSP00000346671:p.Gly249Glu		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.G249E	ENST00000354650.3	37	c.746	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165716	0.21538	.	.	ENSG00000010810	ENST00000354650;ENST00000368667	T;T	0.73152	-0.72;-0.72	5.77	5.77	0.91146	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	N	0.11154	0.105	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48703	-0.9012	10	0.02654	T	1	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	249	P06241	FYN_HUMAN	E	249	ENSP00000346671:G249E;ENSP00000357656:G249E	ENSP00000346671:G249E	G	-	2	0	FYN	112128116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	GGG	-	FYN	-	NULL		0.527	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	0	0		60	60		0.00		C			112021423	-1	14		48		tier1	no_errors	ENST00000354650	ensembl	human	known	74_37	missense	22.58		SNP	1.000	T	14	48
PLIN4	729359	genome.wustl.edu	37	19	4510569	4510569	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:4510569C>T	ENST00000301286.3	-	3	3360	c.3361G>A	c.(3361-3363)Ggg>Agg	p.G1121R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1121						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCAAAAGCCCCGTGTCCTCC	0.662													ENSG00000167676																																					0													37.0	43.0	41.0					19																	4510569		2132	4227	6359	SO:0001583	missense	0			-	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3361G>A	19.37:g.4510569C>T	ENSP00000301286:p.Gly1121Arg		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.G1121R	ENST00000301286.3	37	c.3361	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	4.318	0.058276	0.08339	.	.	ENSG00000167676	ENST00000301286	T	0.04706	3.57	2.37	-1.37	0.09056	.	0.810714	0.09954	N	0.734254	T	0.02610	0.0079	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43861	-0.9365	10	0.52906	T	0.07	.	3.7239	0.08467	0.0:0.5265:0.202:0.2715	.	1121	Q96Q06	PLIN4_HUMAN	R	1121	ENSP00000301286:G1121R	ENSP00000301286:G1121R	G	-	1	0	PLIN4	4461569	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.148000	0.10219	-0.463000	0.06973	-1.943000	0.00494	GGG	-	PLIN4	-	NULL		0.662	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	0	0		83	83		0.00		C	XM_170901		4510569	-1	38		58		tier1	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	39.58		SNP	0.000	T	38	58
SALL2	6297	genome.wustl.edu	37	14	21993213	21993213	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:21993213C>T	ENST00000327430.3	-	2	943	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	217					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(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GGGGCACCCACCGTCTGGCCT	0.602													ENSG00000165821																																					0													40.0	40.0	40.0					14																	21993213		2203	4300	6503	SO:0001583	missense	0			-	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.649G>A	14.37:g.21993213C>T	ENSP00000333537:p.Val217Met		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V217M	ENST00000327430.3	37	c.649	CCDS32045.1	14	.	.	.	.	.	.	.	.	.	.	C	8.528	0.870408	0.17322	.	.	ENSG00000165821	ENST00000327430;ENST00000541876	T	0.04603	3.59	4.46	4.46	0.54185	.	0.466069	0.15749	N	0.246516	T	0.05502	0.0145	L	0.29908	0.895	0.80722	D	1	B;B	0.32693	0.38;0.38	B;B	0.34873	0.191;0.191	T	0.43621	-0.9380	10	0.56958	D	0.05	-41.1915	12.4822	0.55850	0.0:1.0:0.0:0.0	.	215;217	B4DFD9;Q9Y467	.;SALL2_HUMAN	M	217	ENSP00000333537:V217M	ENSP00000333537:V217M	V	-	1	0	SALL2	21063053	0.254000	0.23992	0.774000	0.31636	0.451000	0.32288	4.507000	0.60434	2.330000	0.79161	0.655000	0.94253	GTG	-	SALL2	-	NULL		0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1	0	0		65	65		0.00		C	NM_005407		21993213	-1	33		40		tier1	no_errors	ENST00000327430	ensembl	human	known	74_37	missense	45.21		SNP	0.949	T	33	40
SATB1	6304	genome.wustl.edu	37	3	18392878	18392878	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:18392878C>T	ENST00000338745.6	-	10	3514				SATB1_ENST00000454909.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.G601E|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1						activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCTCCTTTCCCAAGGGTGGT	0.537													ENSG00000182568																																					0													9.0	8.0	8.0					3																	18392878		869	1971	2840	SO:0001627	intron_variant	0			-		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1779+605G>A	3.37:g.18392878C>T			B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.G601E	ENST00000338745.6	37	c.1802	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377962	0.42105	.	.	ENSG00000182568	ENST00000417717	T	0.39592	1.07	5.32	4.36	0.52297	.	0.471514	0.19177	N	0.120794	T	0.44138	0.1279	.	.	.	0.80722	D	1	P	0.45768	0.866	P	0.47573	0.55	T	0.21211	-1.0252	9	0.29301	T	0.29	-7.3252	15.0574	0.71925	0.1511:0.8489:0.0:0.0	.	601	Q01826-2	.	E	601	ENSP00000399518:G601E	ENSP00000399518:G601E	G	-	2	0	SATB1	18367882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.488000	0.35551	2.492000	0.84095	0.561000	0.74099	GGG	-	SATB1	-	NULL		0.537	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	0	0		81	81		0.00		C	NM_001131010		18392878	-1	26		63		tier1	no_errors	ENST00000417717	ensembl	human	known	74_37	missense	29.21		SNP	1.000	T	26	63
TLK1	9874	genome.wustl.edu	37	2	171939308	171939308	+	Missense_Mutation	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:171939308T>C	ENST00000431350.2	-	3	717	c.313A>G	c.(313-315)Agt>Ggt	p.S105G	TLK1_ENST00000360843.3_Missense_Mutation_p.S105G|TLK1_ENST00000521943.1_Missense_Mutation_p.S57G|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000442919.2_Missense_Mutation_p.S57G			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	105					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTTGTCACTTAAAGATCCC	0.289													ENSG00000198586																																					0													98.0	108.0	105.0					2																	171939308		2202	4296	6498	SO:0001583	missense	0			-	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.313A>G	2.37:g.171939308T>C	ENSP00000411099:p.Ser105Gly		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	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.S105G	ENST00000431350.2	37	c.313	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243914	0.79912	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.92880	0.7735	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.989	D	0.93621	0.6948	10	0.87932	D	0	.	13.1066	0.59252	0.0:0.0:0.0:1.0	.	105;105	Q9UKI8-2;Q9UKI8	.;TLK1_HUMAN	G	57;105;105;57	ENSP00000402165:S57G;ENSP00000411099:S105G;ENSP00000354089:S105G;ENSP00000428113:S57G	ENSP00000352810:S105G	S	-	1	0	TLK1	171647554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.103000	0.71492	2.146000	0.66826	0.482000	0.46254	AGT	-	TLK1	-	NULL		0.289	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	0	0		115	115		0.00		T	NM_012290		171939308	-1	53		52		tier1	no_errors	ENST00000431350	ensembl	human	known	74_37	missense	50.48		SNP	1.000	C	53	52
OR2T33	391195	genome.wustl.edu	37	1	248436694	248436694	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248436694C>T	ENST00000318021.2	-	1	444	c.423G>A	c.(421-423)agG>agA	p.R141R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ACATGGTCATCCTCAGGCACA	0.577													ENSG00000177212																																					0													130.0	125.0	126.0					1																	248436694		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.423G>A	1.37:g.248436694C>T			B2RNN0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R141	ENST00000318021.2	37	c.423	CCDS31109.1	1																																																																																			-	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	0	0		107	107		0.00		C	NM_001004695		248436694	-1	51		142		tier1	no_errors	ENST00000318021	ensembl	human	known	74_37	silent	26.29		SNP	0.000	T	51	142
ZMYM3	9203	genome.wustl.edu	37	X	70469918	70469918	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70469918G>A	ENST00000353904.2	-	6	1396	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	ZMYM3_ENST00000373998.1_Silent_p.P403P|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P307L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.P405P|ZMYM3_ENST00000373981.1_Silent_p.P403P|ZMYM3_ENST00000373984.3_Silent_p.P405P|ZMYM3_ENST00000314425.5_Silent_p.P403P|ZMYM3_ENST00000373982.1_Silent_p.P405P	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	403					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TAGCGTCGGCGGGATCCCCAG	0.617													ENSG00000147130																																					0													35.0	32.0	33.0					X																	70469918		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1209C>T	X.37:g.70469918G>A			D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	NULL	p.P307L	ENST00000353904.2	37	c.920	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.390933	0.00200	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.15	-8.3	0.01005	.	0.484198	0.19071	N	0.123506	T	0.06188	0.0160	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.32268	-0.9913	6	0.02654	T	1	-2.1079	1.5611	0.02595	0.2706:0.0846:0.2804:0.3644	.	.	.	.	L	307	.	ENSP00000363090:P307L	P	-	2	0	ZMYM3	70386643	0.001000	0.12720	0.058000	0.19502	0.857000	0.48899	-1.199000	0.03032	-2.817000	0.00345	-0.366000	0.07423	CCG	-	ZMYM3	-	NULL		0.617	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	0	0		26	26		0.00		G	NM_201599		70469918	-1	34		16		tier1	no_errors	ENST00000373978	ensembl	human	known	74_37	missense	68.00		SNP	0.000	A	34	16
PKHD1L1	93035	genome.wustl.edu	37	8	110439312	110439312	+	Missense_Mutation	SNP	G	G	A	rs372146755		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:110439312G>A	ENST00000378402.5	+	25	3031	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	976					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGTTACACGAGAGGGAACC	0.542										HNSCC(38;0.096)			ENSG00000205038																																					0								G	GLN/ARG	0,3910		0,0,1955	72.0	75.0	74.0		2927	5.4	0.8	8		74	1,8347		0,1,4173	no	missense	PKHD1L1	NM_177531.4	43	0,1,6128	AA,AG,GG		0.012,0.0,0.0082	possibly-damaging	976/4244	110439312	1,12257	1955	4174	6129	SO:0001583	missense	0			-	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2927G>A	8.37:g.110439312G>A	ENSP00000367655:p.Arg976Gln		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.R976Q	ENST00000378402.5	37	c.2927	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715833	0.68844	0.0	1.2E-4	ENSG00000205038	ENST00000378402	D	0.88046	-2.33	5.45	5.45	0.79879	.	0.229665	0.33631	N	0.004713	D	0.88876	0.6556	M	0.78801	2.425	0.24072	N	0.995976	D	0.63880	0.993	P	0.46585	0.521	D	0.84763	0.0763	10	0.56958	D	0.05	.	14.7717	0.69684	0.0:0.0:1.0:0.0	.	976	Q86WI1	PKHL1_HUMAN	Q	976	ENSP00000367655:R976Q	ENSP00000367655:R976Q	R	+	2	0	PKHD1L1	110508488	0.990000	0.36364	0.793000	0.32043	0.345000	0.29048	3.693000	0.54735	2.550000	0.86006	0.585000	0.79938	CGA	-	PKHD1L1	-	NULL		0.542	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	0	0		63	63		0.00		G	NM_177531		110439312	+1	17		84		tier1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	16.67		SNP	0.963	A	17	84
GVINP1	387751	genome.wustl.edu	37	11	6742293	6742293	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6742293G>A	ENST00000526769.3	-	0	911					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GGTTTCCTTGGATTCTGGATG	0.458													ENSG00000254838																																					0																																												0			-	BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6742293G>A			A6NFL2|Q9H8N5	R	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			-	GVINP1	-	-		0.458	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	0	0		38	38		0.00		G	NR_003945		6742293	-1	15		33		tier1	no_errors	ENST00000526769	ensembl	human	known	74_37	rna	31.25		SNP	0.994	A	15	33
SERINC5	256987	genome.wustl.edu	37	5	79439606	79439606	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:79439606G>A	ENST00000507668.2	-	11	1389				SERINC5_ENST00000509193.1_Intron|SERINC5_ENST00000512972.2_Intron|SERINC5_ENST00000512721.1_Silent_p.F422F|CTC-458I2.2_ENST00000511484.1_RNA	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5						myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TCCCGCTGAAGAAGCTCTCGA	0.517													ENSG00000164300																																					0																																										SO:0001627	intron_variant	0			-	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.1238+2306C>T	5.37:g.79439606G>A			B4DMH7|Q495A4|Q495A6	Silent	SNP	pfam_TMS_TDE	p.F422	ENST00000507668.2	37	c.1266	CCDS54873.1	5																																																																																			-	SERINC5	-	pfam_TMS_TDE		0.517	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	HGNC	protein_coding		0	0		38	38		0.00		G	NM_178276		79439606	-1	21		34		tier1	no_errors	ENST00000512721	ensembl	human	novel	74_37	silent	38.18		SNP	1.000	A	21	34
C3	718	genome.wustl.edu	37	19	6693028	6693028	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:6693028G>A	ENST00000245907.6	-	26	3389	c.3297C>T	c.(3295-3297)gtC>gtT	p.V1099V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1099					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCCCGCAGAGGACTTGGGAGT	0.572													ENSG00000125730																																					0													112.0	115.0	114.0					19																	6693028		2203	4300	6503	SO:0001819	synonymous_variant	0			-	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3297C>T	19.37:g.6693028G>A			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.V1099	ENST00000245907.6	37	c.3297	CCDS32883.1	19																																																																																			-	C3	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	0	0		53	53		0.00		G	NM_000064		6693028	-1	18		33		tier1	no_errors	ENST00000245907	ensembl	human	known	74_37	silent	35.29		SNP	0.991	A	18	33
IGF2BP2	10644	genome.wustl.edu	37	3	185407306	185407306	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:185407306C>T	ENST00000382199.2	-	6	609	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.G178R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.G172R|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.G115R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	172					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GAGTGGTCCCCACGCTGGGCT	0.602													ENSG00000073792																																					0													52.0	57.0	55.0					3																	185407306		2203	4300	6503	SO:0001583	missense	0			-	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.514G>A	3.37:g.185407306C>T	ENSP00000371634:p.Gly172Arg		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.G172R	ENST00000382199.2	37	c.514	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021808	0.75275	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.48201	2.02;0.82;2.31;2.02	5.09	5.09	0.68999	.	0.155127	0.64402	D	0.000020	T	0.63426	0.2510	L	0.59436	1.845	0.80722	D	1	B;D;D;D;P;D	0.71674	0.373;0.998;0.995;0.998;0.548;0.997	B;D;D;D;B;D	0.74674	0.297;0.984;0.975;0.975;0.384;0.953	T	0.58940	-0.7547	10	0.30078	T	0.28	-11.6841	15.7779	0.78240	0.0:1.0:0.0:0.0	.	109;109;115;178;172;172	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	R	172;115;178;172	ENSP00000371634:G172R;ENSP00000413787:G115R;ENSP00000410242:G178R;ENSP00000320204:G172R	ENSP00000320204:G172R	G	-	1	0	IGF2BP2	186890000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.882000	0.63121	2.515000	0.84797	0.655000	0.94253	GGG	-	IGF2BP2	-	NULL		0.602	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	0	0		28	28		0.00		C	NM_006548		185407306	-1	14		51		tier1	no_errors	ENST00000382199	ensembl	human	known	74_37	missense	21.54		SNP	1.000	T	14	51
FAM71E2	284418	genome.wustl.edu	37	19	55869808	55869808	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55869808C>T	ENST00000424985.3	-	9	2621	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	CTD-2105E13.6_ENST00000591954.3_Silent_p.G359G	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	810										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						GAGATTCCTTCCCTCTTCAGA	0.647													ENSG00000180043																																					0													27.0	30.0	29.0					19																	55869808		692	1591	2283	SO:0001583	missense	0			-	AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2428G>A	19.37:g.55869808C>T	ENSP00000398617:p.Glu810Lys		Q8ND99	Missense_Mutation	SNP	pfam_DUF3699	p.E810K	ENST00000424985.3	37	c.2428		19	.	.	.	.	.	.	.	.	.	.	c	12.36	1.915837	0.33815	.	.	ENSG00000180043	ENST00000424985	T	0.14144	2.53	3.45	-0.605	0.11623	.	.	.	.	.	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.24974	0.057	T	0.39333	-0.9619	9	0.21540	T	0.41	.	1.8025	0.03074	0.2034:0.465:0.1992:0.1324	.	810	Q8N5Q1	F71E2_HUMAN	K	810	ENSP00000398617:E810K	ENSP00000398617:E810K	E	-	1	0	FAM71E2	60561620	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.841000	0.04359	-0.131000	0.11578	0.456000	0.33151	GAA	-	FAM71E2	-	NULL		0.647	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	FAM71E2	HGNC	protein_coding	OTTHUMT00000409063.4	0	0		46	46		0.00		C	NM_001145402		55869808	-1	12		47		tier1	no_errors	ENST00000424985	ensembl	human	novel	74_37	missense	20.34		SNP	0.000	T	12	47
PCOLCE	5118	genome.wustl.edu	37	7	100202811	100202811	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:100202811C>T	ENST00000223061.5	+	4	841	c.561C>T	c.(559-561)tcC>tcT	p.S187S	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	187	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCAGCTGTTCCTGGCACATCA	0.682													ENSG00000106333																																					0													22.0	25.0	24.0					7																	100202811		2202	4298	6500	SO:0001819	synonymous_variant	0			-	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.561C>T	7.37:g.100202811C>T			B2R9E1|O14550	Silent	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.S187	ENST00000223061.5	37	c.561	CCDS5700.1	7																																																																																			-	PCOLCE	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.682	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1	0	0		72	72		0.00		C	NM_002593		100202811	+1	21		66		tier1	no_errors	ENST00000223061	ensembl	human	known	74_37	silent	24.14		SNP	1.000	T	21	66
ARHGAP28	79822	genome.wustl.edu	37	18	6824815	6824815	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:6824815C>T	ENST00000383472.4	+	2	281	c.177C>T	c.(175-177)ctC>ctT	p.L59L	ARHGAP28_ENST00000400091.2_Silent_p.L59L|ARHGAP28_ENST00000262227.3_Silent_p.L7L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	59					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)			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)				ATGAATCCCTCCATCCTCCTG	0.438													ENSG00000088756																																					0																																										SO:0001819	synonymous_variant	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.177C>T	18.37:g.6824815C>T			A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L59	ENST00000383472.4	37	c.177		18																																																																																			-	ARHGAP28	-	NULL		0.438	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	0	0		50	50		0.00		C	XM_371108		6824815	+1	15		28		tier1	no_errors	ENST00000400091	ensembl	human	known	74_37	silent	34.88		SNP	0.000	T	15	28
NTM	50863	genome.wustl.edu	37	11	131530993	131530993	+	Intron	SNP	T	T	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:131530993T>C	ENST00000374791.3	+	2	411				NTM_ENST00000539799.1_Intron|AP003039.3_ENST00000416725.1_lincRNA|NTM_ENST00000427481.2_Intron	NM_001048209.1	NP_001041674.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGGGGGGGTCTTCCCCCTAGA	0.507													ENSG00000182667																																					0																																										SO:0001627	intron_variant	0			-	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374791.3:c.83-250465T>C	11.37:g.131530993T>C			A0MTT2|Q6UXJ3|Q86VJ9	R	SNP	-	NULL	ENST00000374791.3	37	NULL	CCDS41733.1	11																																																																																			-	NTM	-	-		0.507	NTM-002	KNOWN	basic|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141936.2	0	0		39	39		0.00		T	NM_016522		131530993	+1	15		40		tier1	no_errors	ENST00000477098	ensembl	human	putative	74_37	rna	27.27		SNP	0.000	C	15	40
DOC2B	8447	genome.wustl.edu	37	17	11269	11269	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:11269G>A	ENST00000343572.7	-	5	858	c.702C>T	c.(700-702)ccC>ccT	p.P234P	DOC2B_ENST00000609727.1_5'Flank	NM_003585.3	NP_003576	Q14184	DOC2B_HUMAN	double C2-like domains, beta	234					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion (GO:0032024)|positive regulation of vesicle fusion (GO:0031340)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			endometrium(2)|ovary(1)	3						GCTTCTTCAGGGGCACACGTG	0.577													ENSG00000272636																																					0													233.0	216.0	221.0					17																	11269		692	1591	2283	SO:0001819	synonymous_variant	0			-	D70830	CCDS73934.1	17p13.3	2014-07-16			ENSG00000272636	ENSG00000272636		"""Synaptotagmins"""	2986	protein-coding gene	gene with protein product		604568	"""double C2-like domains, beta-like"""	DOC2BL		7826360	Standard	NM_003585		Approved		uc010vpx.1	Q14184	OTTHUMG00000154415	ENST00000343572.7:c.702C>T	17.37:g.11269G>A				Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.P234	ENST00000343572.7	37	c.702		17																																																																																			-	DOC2B	-	superfamily_C2_dom,smart_C2_dom		0.577	DOC2B-001	KNOWN	basic|appris_principal	protein_coding	DOC2B	HGNC	protein_coding	OTTHUMT00000335122.3	0	0		60	60		0.00		G	NM_003585		11269	-1	35		57		tier1	no_errors	ENST00000343572	ensembl	human	known	74_37	silent	38.04		SNP	1.000	A	35	57
KIF21A	55605	genome.wustl.edu	37	12	39757000	39757000	+	Missense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:39757000C>A	ENST00000361418.5	-	7	934	c.919G>T	c.(919-921)Gta>Tta	p.V307L	KIF21A_ENST00000544797.2_Missense_Mutation_p.V307L|KIF21A_ENST00000395670.3_Missense_Mutation_p.V307L|KIF21A_ENST00000541463.2_Missense_Mutation_p.V307L|KIF21A_ENST00000361961.3_Missense_Mutation_p.V307L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	307	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCACTTATTACATTGCCAAGT	0.368													ENSG00000139116																																					0													123.0	121.0	122.0					12																	39757000		2203	4300	6503	SO:0001583	missense	0			-	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.919G>T	12.37:g.39757000C>A	ENSP00000354878:p.Val307Leu		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.V307L	ENST00000361418.5	37	c.919	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348770	0.82132	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	4.87	4.87	0.63330	Kinesin, motor domain (3);	0.000000	0.47093	D	0.000256	D	0.92456	0.7605	M	0.93507	3.425	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.967;1.0;0.998;1.0	D;D;D;D;D	0.91635	0.999;0.97;0.998;0.997;0.998	D	0.94561	0.7762	10	0.87932	D	0	.	18.0307	0.89283	0.0:1.0:0.0:0.0	.	307;307;307;307;307	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	L	307;307;307;307;307;307;130	ENSP00000354851:V307L;ENSP00000379029:V307L;ENSP00000445606:V307L;ENSP00000354878:V307L;ENSP00000438075:V307L;ENSP00000449700:V130L	ENSP00000344501:V307L	V	-	1	0	KIF21A	38043267	1.000000	0.71417	0.988000	0.46212	0.618000	0.37518	7.534000	0.82004	2.245000	0.73994	0.563000	0.77884	GTA	-	KIF21A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom		0.368	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	0	0		56	56		0.00		C	NM_017641		39757000	-1	32		45		tier1	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	41.56		SNP	1.000	A	32	45
TONSL	4796	genome.wustl.edu	37	8	145659074	145659074	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145659074G>A	ENST00000409379.3	-	22	3485	c.3456C>T	c.(3454-3456)ctC>ctT	p.L1152L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1152					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGCGTGCAGGAGGGAGGCCA	0.642													ENSG00000160949																																					0													40.0	46.0	44.0					8																	145659074		2202	4300	6502	SO:0001819	synonymous_variant	0			-		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3456C>T	8.37:g.145659074G>A			B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.L1152	ENST00000409379.3	37	c.3456	CCDS34968.2	8																																																																																			-	TONSL	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	0	0		48	48		0.00		G	NM_013432		145659074	-1	13		40		tier1	no_errors	ENST00000409379	ensembl	human	known	74_37	silent	24.53		SNP	0.973	A	13	40
TTC16	158248	genome.wustl.edu	37	9	130485607	130485607	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:130485607C>T	ENST00000373289.3	+	7	947	c.867C>T	c.(865-867)ctC>ctT	p.L289L	TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_Silent_p.L113L|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	289										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GTCTCTTCCTCTTCCGGTACT	0.607													ENSG00000167094																																					0													77.0	54.0	62.0					9																	130485607		2202	4297	6499	SO:0001819	synonymous_variant	0			-	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.867C>T	9.37:g.130485607C>T			B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L289	ENST00000373289.3	37	c.867	CCDS6875.1	9	.	.	.	.	.	.	.	.	.	.	C	8.891	0.953954	0.18431	.	.	ENSG00000167094	ENST00000373288;ENST00000316259	.	.	.	5.03	2.01	0.26516	.	0.171047	0.37348	N	0.002133	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08576	-1.0715	6	0.18710	T	0.47	-20.0107	4.7708	0.13155	0.0:0.6065:0.1924:0.2011	.	.	.	.	F	115;234	.	ENSP00000319048:L234F	L	+	1	0	TTC16	129525428	0.974000	0.33945	1.000000	0.80357	0.888000	0.51559	-0.049000	0.11924	0.702000	0.31825	0.462000	0.41574	CTT	-	TTC16	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC16	HGNC	protein_coding	OTTHUMT00000054224.1	0	0		46	46		0.00		C	NM_144965		130485607	+1	26		53		tier1	no_errors	ENST00000373289	ensembl	human	known	74_37	silent	32.91		SNP	1.000	T	26	53
KCNK7	10089	genome.wustl.edu	37	11	65363172	65363172	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65363172C>T	ENST00000340313.4	-	1	295	c.72G>A	c.(70-72)ggG>ggA	p.G24G	KCNK7_ENST00000394217.2_Silent_p.G24G|KCNK7_ENST00000342202.4_Silent_p.G24G|KCNK7_ENST00000394216.2_Silent_p.G24G	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	24					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						ACACCACAGCCCCAAGCCCCA	0.682													ENSG00000173338																																					0													11.0	15.0	14.0					11																	65363172		2182	4286	6468	SO:0001819	synonymous_variant	0			-	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.72G>A	11.37:g.65363172C>T			Q3SYI2|Q9Y2U3|Q9Y2U4	Silent	SNP	pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK	p.G24	ENST00000340313.4	37	c.72	CCDS31608.1	11																																																																																			-	KCNK7	-	pirsf_2pore_dom_K_chnl_TASK		0.682	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK7	HGNC	protein_coding	OTTHUMT00000390206.1	0	0		9	9		0.00		C	NM_005714		65363172	-1	10		9		tier1	no_errors	ENST00000340313	ensembl	human	known	74_37	silent	52.63		SNP	1.000	T	10	9
AGTPBP1	23287	genome.wustl.edu	37	9	88204543	88204543	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:88204543C>T	ENST00000357081.3	-	20	2766	c.2622G>A	c.(2620-2622)cgG>cgA	p.R874R	AGTPBP1_ENST00000376083.3_Silent_p.R834R|AGTPBP1_ENST00000376109.3_Silent_p.R886R|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	874					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ACACATCTTTCCGAAAATAGA	0.348													ENSG00000135049																																					0													104.0	99.0	101.0					9																	88204543		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2622G>A	9.37:g.88204543C>T			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.R886	ENST00000357081.3	37	c.2658		9																																																																																			-	AGTPBP1	-	pfam_Peptidase_M14		0.348	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	0	0		103	103		0.00		C	NM_015239		88204543	-1	39		64		tier1	no_errors	ENST00000376109	ensembl	human	known	74_37	silent	37.86		SNP	0.951	T	39	64
MTMR7	9108	genome.wustl.edu	37	8	17206510	17206510	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:17206510C>T	ENST00000180173.5	-	5	583	c.549G>A	c.(547-549)cgG>cgA	p.R183R	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Silent_p.R183R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	183	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GCCGTCTACTCCGGAATTTGG	0.418													ENSG00000003987																																					0													136.0	130.0	132.0					8																	17206510		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.549G>A	8.37:g.17206510C>T			A1L4K9|B4DG87|Q68DX4	Silent	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.R183	ENST00000180173.5	37	c.549	CCDS34851.1	8																																																																																			-	MTMR7	-	pfam_Myotubularin-like_Pase_dom		0.418	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	HGNC	protein_coding	OTTHUMT00000375311.1	0	0		59	59		0.00		C	NM_004686		17206510	-1	11		49		tier1	no_errors	ENST00000180173	ensembl	human	known	74_37	silent	18.33		SNP	1.000	T	11	49
CTB-133G6.1	0	genome.wustl.edu	37	19	7440735	7440735	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:7440735C>T	ENST00000576789.1	+	4	814	c.405C>T	c.(403-405)acC>acT	p.T135T																								GGGGCGGGACCCCCGCAGAGA	0.582													ENSG00000263264																																					0																																										SO:0001819	synonymous_variant	0			-																												ENST00000576789.1:c.405C>T	19.37:g.7440735C>T				Silent	SNP	NULL	p.T135	ENST00000576789.1	37	c.405		19																																																																																			-	CTB-133G6.1	-	NULL		0.582	CTB-133G6.1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	ENSG00000263264	Clone_based_vega_gene	protein_coding	OTTHUMT00000436334.1	0	0		35	35		0.00		C			7440735	+1	22		23		tier1	no_errors	ENST00000576789	ensembl	human	novel	74_37	silent	48.89		SNP	0.011	T	22	23
ZNF71	58491	genome.wustl.edu	37	19	57133647	57133647	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:57133647G>A	ENST00000328070.6	+	3	1226	c.992G>A	c.(991-993)tGc>tAc	p.C331Y		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCGGCGAGTGCGGCAAGGCC	0.637													ENSG00000197951																																					0													87.0	79.0	82.0					19																	57133647		2203	4300	6503	SO:0001583	missense	0			-	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.992G>A	19.37:g.57133647G>A	ENSP00000328245:p.Cys331Tyr		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C331Y	ENST00000328070.6	37	c.992	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757034	0.69648	.	.	ENSG00000197951	ENST00000328070	D	0.85861	-2.04	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94235	0.8149	H	0.96239	3.79	0.39867	D	0.973454	D	0.89917	1.0	D	0.91635	0.999	D	0.95804	0.8835	9	0.72032	D	0.01	.	12.5989	0.56487	0.0:0.0:1.0:0.0	.	331	Q9NQZ8	ZNF71_HUMAN	Y	331	ENSP00000328245:C331Y	ENSP00000328245:C331Y	C	+	2	0	ZNF71	61825459	1.000000	0.71417	0.922000	0.36590	0.806000	0.45545	6.624000	0.74243	1.921000	0.55644	0.561000	0.74099	TGC	-	ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	0	0		40	40		0.00		G	NM_021216		57133647	+1	10		45		tier1	no_errors	ENST00000328070	ensembl	human	known	74_37	missense	18.18		SNP	1.000	A	10	45
CLTC	1213	genome.wustl.edu	37	17	57758360	57758360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:57758360G>T	ENST00000269122.3	+	19	3281	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Nonsense_Mutation_p.E1003*	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1003	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCTTCCTAATGAACTCATTGA	0.413			T	"""ALK, TFE3"""	"""ALCL, renal """								ENSG00000141367																												Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													145.0	140.0	142.0					17																	57758360		2203	4300	6503	SO:0001587	stop_gained	0			-	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3007G>T	17.37:g.57758360G>T	ENSP00000269122:p.Glu1003*		D3DU00|Q6N0A0|Q86TF2	Nonsense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E1003*	ENST00000269122.3	37	c.3007	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	43	10.191121	0.99355	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	.	.	.	5.09	5.09	0.68999	.	0.097989	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4981	0.90872	0.0:0.0:1.0:0.0	.	.	.	.	X	1003	.	ENSP00000269122:E1003X	E	+	1	0	CLTC	55113142	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.374000	0.81015	0.650000	0.86243	GAA	-	CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.413	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	0	0		44	44		0.00		G	NM_004859		57758360	+1	4		44		tier1	no_errors	ENST00000269122	ensembl	human	known	74_37	nonsense	8.33		SNP	1.000	T	4	44
STRA13	201254	genome.wustl.edu	37	17	79977184	79977184	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:79977184C>T	ENST00000392359.3	-	4	272	c.216G>A	c.(214-216)aaG>aaA	p.K72K	STRA13_ENST00000306704.6_Silent_p.K54K|STRA13_ENST00000584347.1_Missense_Mutation_p.R116K|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000580435.1_Splice_Site_p.K54K	NM_001271006.1	NP_001257935.1	A8MT69	CENPX_HUMAN	stimulated by retinoic acid 13	72					DNA repair (GO:0006281)|kinetochore assembly (GO:0051382)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	DNA binding (GO:0003677)					all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGAAGCACCTTCTCCAGCT	0.682													ENSG00000169689																									NSCLC(66;370 1886 11380 28417)												0													24.0	27.0	26.0					17																	79977184		2185	4289	6474	SO:0001819	synonymous_variant	0			-	BC009571	CCDS32772.1, CCDS59303.1, CCDS59302.1	17q25.3	2013-11-05	2012-12-07		ENSG00000169689	ENSG00000169689			11422	protein-coding gene	gene with protein product		615128	"""stimulated by retinoic acid 13 homolog (mouse)"""			8839844	Standard	NM_144998		Approved	MGC14480, MHF2, FAAP10	uc031rey.1	A8MT69	OTTHUMG00000132129	ENST00000392359.3:c.216G>A	17.37:g.79977184C>T			O00281|O00282|Q96DD4|Q96F51	Missense_Mutation	SNP	pfam_CENP-X	p.R116K	ENST00000392359.3	37	c.347	CCDS59303.1	17																																																																																			-	STRA13	-	NULL		0.682	STRA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA13	HGNC	protein_coding	OTTHUMT00000255174.1	0	0		49	49		0.00		C	NM_144998		79977184	-1	33		55		tier1	no_errors	ENST00000584347	ensembl	human	putative	74_37	missense	37.50		SNP	0.999	T	33	55
SRRM3	222183	genome.wustl.edu	37	7	75889235	75889235	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:75889235C>T	ENST00000326382.8	+	4	554	c.347C>T	c.(346-348)aCc>aTc	p.T116I	SRRM3_ENST00000388802.4_Missense_Mutation_p.T116I	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	116										NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GTGGCGGAGACCCCGCGGCTG	0.692													ENSG00000177679																																					0													23.0	28.0	27.0					7																	75889235		1530	3532	5062	SO:0001583	missense	0			-	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.347C>T	7.37:g.75889235C>T	ENSP00000325298:p.Thr116Ile		A6ND75	Missense_Mutation	SNP	pfam_mR_splic_Cwf21	p.T116I	ENST00000326382.8	37	c.347		7	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436972	0.43224	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	.	.	.	3.52	2.54	0.30619	.	0.291449	0.23945	N	0.043013	T	0.28797	0.0714	L	0.50333	1.59	0.24786	N	0.992788	P	0.49185	0.92	B	0.40901	0.343	T	0.26292	-1.0107	9	0.87932	D	0	-16.1351	6.7666	0.23571	0.1914:0.6205:0.1881:0.0	.	116	A6NNA2	SRRM3_HUMAN	I	116	.	ENSP00000325298:T116I	T	+	2	0	SRRM3	75727171	0.995000	0.38212	0.998000	0.56505	0.580000	0.36256	1.476000	0.35420	1.693000	0.51124	0.555000	0.69702	ACC	-	SRRM3	-	NULL		0.692	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	0	0		95	95		0.00		C	NM_001110199		75889235	+1	34		135		tier1	no_errors	ENST00000388802	ensembl	human	known	74_37	missense	20.12		SNP	0.988	T	34	135
FER1L4	80307	genome.wustl.edu	37	20	34164206	34164206	+	IGR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:34164206C>T								ERGIC3 (18801 upstream) : FER1L4 (5834 downstream)																							GGAAGGAGCCCTGAGTTGGGG	0.552													ENSG00000088340																																					0																																										SO:0001628	intergenic_variant	0			-																													20.37:g.34164206C>T				Splice_Site	SNP	-	NULL		37	c.NULL		20																																																																																			-	FER1L4	-	-	0	0.552					FER1L4	HGNC			0	0		95	95		0.00		C			34164206	-1	18		129		tier1	no_errors	ENST00000440443	ensembl	human	known	74_37	splice_site	12.24		SNP	1.000	T	18	129
LRP4	4038	genome.wustl.edu	37	11	46900749	46900749	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:46900749C>T	ENST00000378623.1	-	21	3174	c.2932G>A	c.(2932-2934)Gac>Aac	p.D978N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	978					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCTCCCGGTCCAGCCCTGTC	0.607													ENSG00000134569																																					0													87.0	96.0	93.0					11																	46900749		2201	4299	6500	SO:0001583	missense	0			-	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2932G>A	11.37:g.46900749C>T	ENSP00000367888:p.Asp978Asn		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D978N	ENST00000378623.1	37	c.2932	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	9.266	1.044427	0.19748	.	.	ENSG00000134569	ENST00000378623	D	0.95885	-3.84	5.61	4.7	0.59300	Six-bladed beta-propeller, TolB-like (1);	0.120673	0.56097	D	0.000025	D	0.85720	0.5762	N	0.04275	-0.24	0.33917	D	0.640359	B	0.09022	0.002	B	0.17979	0.02	T	0.80183	-0.1488	10	0.02654	T	1	.	11.262	0.49089	0.1268:0.806:0.0:0.0672	.	978	O75096	LRP4_HUMAN	N	978	ENSP00000367888:D978N	ENSP00000367888:D978N	D	-	1	0	LRP4	46857325	1.000000	0.71417	0.913000	0.36048	0.852000	0.48524	2.635000	0.46537	1.509000	0.48786	0.462000	0.41574	GAC	-	LRP4	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt		0.607	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	0	0		51	51		0.00		C	NM_002334		46900749	-1	27		57		tier1	no_errors	ENST00000378623	ensembl	human	known	74_37	missense	32.14		SNP	0.895	T	27	57
NES	10763	genome.wustl.edu	37	1	156641983	156641983	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:156641983G>A	ENST00000368223.3	-	4	2129	c.1997C>T	c.(1996-1998)tCa>tTa	p.S666L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	666	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCTGTCAATGACTCTAAGTT	0.418													ENSG00000132688																																					0													53.0	49.0	50.0					1																	156641983		2203	4300	6503	SO:0001583	missense	0			-	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1997C>T	1.37:g.156641983G>A	ENSP00000357206:p.Ser666Leu		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.S666L	ENST00000368223.3	37	c.1997	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856500	0.71834	.	.	ENSG00000132688	ENST00000368223	D	0.86432	-2.12	5.28	3.38	0.38709	.	0.689810	0.11216	N	0.587210	T	0.69824	0.3154	L	0.46157	1.445	0.09310	N	1	P	0.43788	0.817	B	0.33454	0.164	T	0.63005	-0.6733	10	0.87932	D	0	.	10.0282	0.42085	0.1697:0.0:0.8303:0.0	.	666	P48681	NEST_HUMAN	L	666	ENSP00000357206:S666L	ENSP00000357206:S666L	S	-	2	0	NES	154908607	0.043000	0.20138	0.008000	0.14137	0.886000	0.51366	2.316000	0.43761	1.223000	0.43536	0.467000	0.42956	TCA	-	NES	-	NULL		0.418	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	0	0		36	36		0.00		G	NM_006617		156641983	-1	9		23		tier1	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	28.12		SNP	0.010	A	9	23
SMYD4	114826	genome.wustl.edu	37	17	1704154	1704154	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:1704154G>A	ENST00000305513.7	-	5	701	c.534C>T	c.(532-534)gcC>gcT	p.A178A		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	178							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CATCTGCTAGGGCTGGTGTGG	0.507													ENSG00000186532																																					0													172.0	165.0	168.0					17																	1704154		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.534C>T	17.37:g.1704154G>A			Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.A178	ENST00000305513.7	37	c.534	CCDS11013.1	17																																																																																			-	SMYD4	-	NULL		0.507	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	0	0		44	44		0.00		G	XM_056082		1704154	-1	11		48		tier1	no_errors	ENST00000305513	ensembl	human	known	74_37	silent	18.33		SNP	0.000	A	11	48
TDRD15	100129278	genome.wustl.edu	37	2	21365616	21365616	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:21365616G>A	ENST00000405799.1	+	4	5607	c.5277G>A	c.(5275-5277)atG>atA	p.M1759I				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1759							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										TTGACATAATGAAATACCTTT	0.353													ENSG00000218819																																					0																																										SO:0001583	missense	0			-			2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.5277G>A	2.37:g.21365616G>A	ENSP00000384376:p.Met1759Ile			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.M1759I	ENST00000405799.1	37	c.5277		2	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783765	0.49891	.	.	ENSG00000218819	ENST00000405799	T	0.08634	3.07	4.87	4.87	0.63330	.	.	.	.	.	T	0.20495	0.0493	.	.	.	.	.	.	.	.	.	.	.	.	T	0.01972	-1.1237	5	0.33141	T	0.24	-1.5305	18.3606	0.90372	0.0:0.0:1.0:0.0	.	.	.	.	I	1759	ENSP00000384376:M1759I	ENSP00000384376:M1759I	M	+	3	0	AC010872.2	21219121	1.000000	0.71417	0.986000	0.45419	0.515000	0.34225	4.503000	0.60407	2.389000	0.81357	0.585000	0.79938	ATG	-	TDRD15	-	pfam_Tudor		0.353	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	0	0		69	69		0.00		G			21365616	+1	8		54		tier1	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	12.90		SNP	0.995	A	8	54
CILP	8483	genome.wustl.edu	37	15	65496613	65496613	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:65496613C>T	ENST00000261883.4	-	6	1078	c.912G>A	c.(910-912)gtG>gtA	p.V304V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	304					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TACCTGCCCTCACAAACTCTG	0.463													ENSG00000138615																																					0													76.0	76.0	76.0					15																	65496613		2201	4299	6500	SO:0001819	synonymous_variant	0			-	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.912G>A	15.37:g.65496613C>T			B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V304	ENST00000261883.4	37	c.912	CCDS10203.1	15																																																																																			-	CILP	-	NULL		0.463	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	0	0		100	100		0.00		C	NM_003613		65496613	-1	30		60		tier1	no_errors	ENST00000261883	ensembl	human	known	74_37	silent	33.33		SNP	0.078	T	30	60
RP1L1	94137	genome.wustl.edu	37	8	10465862	10465862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:10465862G>A	ENST00000382483.3	-	4	5969	c.5746C>T	c.(5746-5748)Cag>Tag	p.Q1916*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1996	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTCTCTGGCTGGGCCTCCTTT	0.612													ENSG00000183638																																					0													128.0	144.0	139.0					8																	10465862		2018	4168	6186	SO:0001587	stop_gained	0			-	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5746C>T	8.37:g.10465862G>A	ENSP00000371923:p.Gln1916*		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1916*	ENST00000382483.3	37	c.5746	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.234838	0.99110	.	.	ENSG00000183638	ENST00000382483	.	.	.	0.718	-0.558	0.11796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	2.353	0.04288	0.2104:0.0:0.2897:0.4999	.	.	.	.	X	1916	.	ENSP00000371923:Q1916X	Q	-	1	0	RP1L1	10503272	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.177000	0.16801	-0.232000	0.09811	-0.516000	0.04426	CAG	-	RP1L1	-	NULL		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	0	0		47	47		0.00		G			10465862	-1	16		40		tier1	no_errors	ENST00000382483	ensembl	human	known	74_37	nonsense	28.57		SNP	0.000	A	16	40
PRKCB	5579	genome.wustl.edu	37	16	24043503	24043503	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:24043503C>T	ENST00000321728.7	+	4	510	c.335C>T	c.(334-336)cCc>cTc	p.P112L	PRKCB_ENST00000303531.7_Missense_Mutation_p.P112L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	112					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P112L(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TACTCCAGCCCCACGTTTTGT	0.527													ENSG00000166501																																					2	Substitution - Missense(2)	large_intestine(2)											115.0	98.0	104.0					16																	24043503		2197	4300	6497	SO:0001583	missense	0			-	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.335C>T	16.37:g.24043503C>T	ENSP00000318315:p.Pro112Leu		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.P112L	ENST00000321728.7	37	c.335	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457646	0.84317	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.93547	-3.24;-3.24	4.91	4.91	0.64330	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.77557	0.948;0.99	D	0.97228	0.9882	10	0.62326	D	0.03	.	16.6542	0.85224	0.0:1.0:0.0:0.0	.	112;112	P05771-2;P05771	.;KPCB_HUMAN	L	112	ENSP00000318315:P112L;ENSP00000305355:P112L	ENSP00000305355:P112L	P	+	2	0	PRKCB	23951004	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.461000	0.80834	2.248000	0.74166	0.462000	0.41574	CCC	-	PRKCB	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.527	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	0	0		36	36		0.00		C	NM_212535		24043503	+1	14		22		tier1	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	37.84		SNP	1.000	T	14	22
DPPA2	151871	genome.wustl.edu	37	3	109027921	109027921	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:109027921G>A	ENST00000478945.1	-	5	594	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	116	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.I116I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAACTTCGATTTTCTTAG	0.408													ENSG00000163530																																					1	Substitution - coding silent(1)	lung(1)											178.0	171.0	173.0					3																	109027921		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.348C>T	3.37:g.109027921G>A			Q8WVF0	Silent	SNP	pfscan_SAP_dom	p.I116	ENST00000478945.1	37	c.348	CCDS2956.1	3																																																																																			-	DPPA2	-	pfscan_SAP_dom		0.408	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	HGNC	protein_coding	OTTHUMT00000353938.1	0	0		46	46		0.00		G	NM_138815		109027921	-1	11		36		tier1	no_errors	ENST00000478945	ensembl	human	known	74_37	silent	23.40		SNP	0.870	A	11	36
DNAH8	1769	genome.wustl.edu	37	6	38690730	38690730	+	5'Flank	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:38690730C>T	ENST00000359357.3	+	0	0				DNAH8_ENST00000449981.2_Missense_Mutation_p.P49S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGTTTCTCTCCTTCCGCAGA	0.557													ENSG00000124721																																					0													36.0	35.0	35.0					6																	38690730		876	1991	2867	SO:0001631	upstream_gene_variant	0			-	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253		6.37:g.38690730C>T	Exception_encountered		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P49S	ENST00000359357.3	37	c.145		6	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273175	0.23221	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	T;T	0.26067	1.76;1.85	5.46	-4.86	0.03132	.	0.839484	0.10419	N	0.676930	T	0.02610	0.0079	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.44922	-0.9296	10	0.17832	T	0.49	.	6.6781	0.23106	0.0:0.2896:0.3395:0.3709	.	49	Q8IU65	.	S	49;37;37	ENSP00000415331:P37S;ENSP00000333363:P37S	ENSP00000333363:P37S	P	+	1	0	DNAH8	38798708	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.364000	0.02590	-0.766000	0.04639	0.491000	0.48974	CCT	-	DH8	-	NULL		0.557	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DH8	HGNC	protein_coding	OTTHUMT00000043574.1	0	0		46	46		0.00		C	NM_001206927		38690730	+1	11		43		tier1	no_errors	ENST00000449981	ensembl	human	known	74_37	missense	20.37		SNP	0.000	T	11	43
TUBA4B	80086	genome.wustl.edu	37	2	220136223	220136223	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220136223C>T	ENST00000490341.1	+	0	693					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										TTGTCTCCTCCATCACAGCTT	0.537													ENSG00000243910																																					0																																												0			-	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136223C>T				R	SNP	-	NULL	ENST00000490341.1	37	NULL		2																																																																																			-	TUBA4B	-	-		0.537	TUBA4B-001	KNOWN	basic	processed_transcript	TUBA4B	HGNC	pseudogene	OTTHUMT00000335637.1	0	0		69	69		0.00		C	NR_003063		220136223	+1	39		40		tier1	no_errors	ENST00000490341	ensembl	human	known	74_37	rna	49.37		SNP	1.000	T	39	40
ZNF469	84627	genome.wustl.edu	37	16	88494374	88494374	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:88494374C>T	ENST00000437464.1	+	1	496	c.496C>T	c.(496-498)Ctc>Ttc	p.L166F	ZNF469_ENST00000565624.1_Missense_Mutation_p.L166F	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	166	Pro-rich.				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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CAGGCCGGGCCTCCCAAGGAC	0.657													ENSG00000225614																																					0													14.0	13.0	14.0					16																	88494374		691	1590	2281	SO:0001583	missense	0			-	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.496C>T	16.37:g.88494374C>T	ENSP00000402343:p.Leu166Phe			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L166F	ENST00000437464.1	37	c.496	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	C	7.552	0.662846	0.14710	.	.	ENSG00000225614	ENST00000437464	T	0.08282	3.11	3.86	-1.11	0.09840	.	.	.	.	.	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	D	0.54772	0.968	P	0.47673	0.554	T	0.29852	-0.9998	9	0.44086	T	0.13	.	2.6214	0.04917	0.3839:0.2718:0.2549:0.0894	.	166	Q96JG9	ZN469_HUMAN	F	166	ENSP00000402343:L166F	ENSP00000402343:L166F	L	+	1	0	ZNF469	87021875	0.015000	0.18098	0.000000	0.03702	0.005000	0.04900	0.068000	0.14531	-0.159000	0.11021	-0.379000	0.06801	CTC	-	ZNF469	-	NULL		0.657	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		0	0		9	9		0.00		C	NG_012236		88494374	+1	5		6		tier1	no_errors	ENST00000437464	ensembl	human	known	74_37	missense	45.45		SNP	0.001	T	5	6
UQCRB	7381	genome.wustl.edu	37	8	97247742	97247742	+	Missense_Mutation	SNP	G	G	A	rs200758329		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:97247742G>A	ENST00000287022.5	-	1	120	c.17C>T	c.(16-18)gCc>gTc	p.A6V	UQCRB_ENST00000523920.1_Missense_Mutation_p.A6V|UQCRB_ENST00000518406.1_Missense_Mutation_p.A6V|UQCRB_ENST00000517523.1_5'Flank|KB-1043D8.6_ENST00000520575.1_RNA	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	6				A -> G (in Ref. 2; AAA60236). {ECO:0000305}.	aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)		p.A6G(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TTACTTACCGGCCTGCTTACC	0.532													ENSG00000156467	G|||	1	0.000199681	0.0008	0.0	5008	,	,		18614	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)											118.0	109.0	112.0					8																	97247742		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.17C>T	8.37:g.97247742G>A	ENSP00000287022:p.Ala6Val		E5RJU0|Q6FGD1	Missense_Mutation	SNP	pfam_QCR7,superfamily_QCR7	p.A6V	ENST00000287022.5	37	c.17	CCDS6269.1	8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.50	2.851706	0.51270	.	.	ENSG00000156467	ENST00000287022;ENST00000518406;ENST00000523920	T;T;T	0.44083	0.93;0.93;0.93	4.2	4.2	0.49525	.	0.544734	0.19684	N	0.108435	T	0.40522	0.1120	M	0.62723	1.935	0.09310	N	1	B	0.21520	0.057	B	0.15052	0.012	T	0.37572	-0.9700	10	0.56958	D	0.05	-11.7994	12.2323	0.54495	0.0:0.0:1.0:0.0	.	6	P14927	QCR7_HUMAN	V	6	ENSP00000287022:A6V;ENSP00000430494:A6V;ENSP00000430560:A6V	ENSP00000287022:A6V	A	-	2	0	UQCRB	97316918	0.018000	0.18449	0.005000	0.12908	0.023000	0.10783	2.217000	0.42880	2.323000	0.78572	0.655000	0.94253	GCC	rs200758329	UQCRB	-	superfamily_QCR7		0.532	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRB	HGNC	protein_coding	OTTHUMT00000379863.1	0	0		71	71		0.00		G	NM_006294		97247742	-1	32		66		tier1	no_errors	ENST00000521036	ensembl	human	known	74_37	missense	32.65		SNP	0.006	A	32	66
GEN1	348654	genome.wustl.edu	37	2	17962840	17962840	+	Silent	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:17962840G>T	ENST00000381254.2	+	14	2575	c.2361G>T	c.(2359-2361)cgG>cgT	p.R787R	GEN1_ENST00000317402.7_Silent_p.R787R|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	787					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAACCACTCGGAAAATTTTAA	0.388								Homologous recombination					ENSG00000178295																																					0													73.0	77.0	76.0					2																	17962840		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2361G>T	2.37:g.17962840G>T			Q17RS9|Q6ZN37	Silent	SNP	pfam_XPG-I_dom,pfam_XPG_D_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_D_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.R787	ENST00000381254.2	37	c.2361	CCDS1691.1	2																																																																																			-	GEN1	-	NULL		0.388	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	0	0		41	41		0.00		G	NM_182625		17962840	+1	5		56		tier1	no_errors	ENST00000317402	ensembl	human	known	74_37	silent	8.20		SNP	0.015	T	5	56
WDR87	83889	genome.wustl.edu	37	19	38378830	38378830	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:38378830C>T	ENST00000303868.5	-	6	5588	c.5364G>A	c.(5362-5364)aaG>aaA	p.K1788K	WDR87_ENST00000447313.2_Silent_p.K1827K	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1788	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						GCATTTTTTCCTTGTGCTGGG	0.468													ENSG00000171804																																					0													153.0	116.0	127.0					19																	38378830		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.5364G>A	19.37:g.38378830C>T			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.K1827	ENST00000303868.5	37	c.5481	CCDS46063.1	19																																																																																			-	WDR87	-	superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C		0.468	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	0	0		37	37		0.00		C	XM_940478		38378830	-1	6		23		tier1	no_errors	ENST00000447313	ensembl	human	known	74_37	silent	20.69		SNP	0.000	T	6	23
CDC5L	988	genome.wustl.edu	37	6	44394440	44394440	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:44394440C>T	ENST00000371477.3	+	13	2171	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	624	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGAAAAGTTCTCCAAAGAAG	0.348													ENSG00000096401																																					0													81.0	81.0	81.0					6																	44394440		2203	4298	6501	SO:0001819	synonymous_variant	0			-	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1872C>T	6.37:g.44394440C>T			Q76N46|Q99974	Silent	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.F624	ENST00000371477.3	37	c.1872	CCDS4912.1	6																																																																																			-	CDC5L	-	pfam_DUF3351		0.348	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	0	0		60	60		0.00		C			44394440	+1	19		56		tier1	no_errors	ENST00000371477	ensembl	human	known	74_37	silent	25.33		SNP	1.000	T	19	56
CTNNA3	29119	genome.wustl.edu	37	10	68979616	68979616	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:68979616G>A	ENST00000433211.2	-	6	766	c.592C>T	c.(592-594)Cca>Tca	p.P198S	CTNNA3_ENST00000545309.1_Missense_Mutation_p.P198S|CTNNA3_ENST00000373744.4_Missense_Mutation_p.P198S	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGATTTGGAGATTTTAAG	0.368													ENSG00000183230																																					0													60.0	64.0	63.0					10																	68979616		2203	4300	6503	SO:0001583	missense	0			-	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.592C>T	10.37:g.68979616G>A	ENSP00000389714:p.Pro198Ser			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.P198S	ENST00000433211.2	37	c.592	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705680	0.30232	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.37411	1.2;1.2;1.2	5.33	3.3	0.37823	.	0.483410	0.17409	N	0.175245	T	0.21801	0.0525	N	0.12961	0.28	0.39623	D	0.970059	B;B;B;B	0.31705	0.166;0.336;0.272;0.336	B;B;B;B	0.37833	0.175;0.259;0.152;0.15	T	0.11397	-1.0589	10	0.54805	T	0.06	-4.2546	3.4624	0.07537	0.0916:0.1725:0.5573:0.1785	.	198;198;198;198	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	S	198	ENSP00000389714:P198S;ENSP00000362849:P198S;ENSP00000441444:P198S	ENSP00000362849:P198S	P	-	1	0	CTNNA3	68649622	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.201000	0.32259	1.191000	0.43056	0.591000	0.81541	CCA	-	CTN3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTN3	HGNC	protein_coding	OTTHUMT00000048282.2	0	0		68	68		0.00		G	NM_013266		68979616	-1	21		45		tier1	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	31.82		SNP	1.000	A	21	45
SLC26A2	1836	genome.wustl.edu	37	5	149360913	149360913	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149360913C>T	ENST00000286298.4	+	3	2025	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	586	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTGTAGCCCCTCTCTACTAC	0.413													ENSG00000155850																																					0													76.0	82.0	80.0					5																	149360913		2203	4300	6503	SO:0001583	missense	0			-	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1757C>T	5.37:g.149360913C>T	ENSP00000286298:p.Pro586Leu		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.P586L	ENST00000286298.4	37	c.1757	CCDS4300.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441186	0.83993	.	.	ENSG00000155850	ENST00000286298	D	0.91124	-2.79	6.07	6.07	0.98685	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.85682	D	0.000000	D	0.96150	0.8745	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95816	0.8845	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	586	P50443	S26A2_HUMAN	L	586	ENSP00000286298:P586L	ENSP00000286298:P586L	P	+	2	0	SLC26A2	149341106	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.739000	0.84976	2.884000	0.98904	0.655000	0.94253	CCT	-	SLC26A2	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt		0.413	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	HGNC	protein_coding	OTTHUMT00000252333.2	0	0		43	43		0.00		C	NM_000112		149360913	+1	19		28		tier1	no_errors	ENST00000286298	ensembl	human	known	74_37	missense	40.43		SNP	1.000	T	19	28
KIFC2	90990	genome.wustl.edu	37	8	145694172	145694172	+	Silent	SNP	C	C	T	rs140291243	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:145694172C>T	ENST00000301332.2	+	10	1445	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	KIFC2_ENST00000301331.5_Silent_p.T104T	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	356					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGTCAGCACCTTTACCCAGA	0.652													ENSG00000167702																																					0													87.0	95.0	92.0					8																	145694172		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1068C>T	8.37:g.145694172C>T			E9PHB2|Q96NN6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.T356	ENST00000301332.2	37	c.1068	CCDS6427.1	8	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576774	0.28092	.	.	ENSG00000167702	ENST00000528415	.	.	.	4.54	2.72	0.32119	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46275	-0.9203	4	.	.	.	-8.3163	7.5692	0.27898	0.1884:0.6298:0.1818:0.0	.	.	.	.	F	177	.	.	L	+	1	0	KIFC2	145664980	0.127000	0.22367	1.000000	0.80357	0.972000	0.66771	0.049000	0.14099	0.363000	0.24346	0.556000	0.70494	CTT	-	KIFC2	-	NULL		0.652	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2	0	0		82	82		0.00		C	NM_145754		145694172	+1	27		63		tier1	no_errors	ENST00000301332	ensembl	human	known	74_37	silent	30.00		SNP	1.000	T	27	63
CIC	23152	genome.wustl.edu	37	19	42794778	42794778	+	Missense_Mutation	SNP	C	C	T	rs138450756	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:42794778C>T	ENST00000575354.2	+	10	1898	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	CIC_ENST00000572681.2_Missense_Mutation_p.P1529S|CIC_ENST00000160740.3_Missense_Mutation_p.P620S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	620	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CATCGCGGCCCCTCCCAGCGG	0.682			"""Mis, F, S"""		oligodendroglioma								ENSG00000079432																												Rec	yes		19	19q13.2	23152	capicua homolog		O	0								C	SER/PRO	0,4406		0,0,2203	41.0	47.0	45.0		1858	3.8	1.0	19	dbSNP_134	45	2,8592		0,2,4295	no	missense	CIC	NM_015125.3	74	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	620/1609	42794778	2,12998	2203	4297	6500	SO:0001583	missense	0			-	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1858C>T	19.37:g.42794778C>T	ENSP00000458663:p.Pro620Ser		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P620S	ENST00000575354.2	37	c.1858	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367477	0.42003	0.0	2.33E-4	ENSG00000079432	ENST00000160740	.	.	.	4.89	3.84	0.44239	.	.	.	.	.	T	0.44561	0.1299	N	0.08118	0	0.34295	D	0.683707	D	0.63880	0.993	D	0.70227	0.968	T	0.56926	-0.7898	8	0.87932	D	0	-8.4078	8.4552	0.32895	0.0:0.8941:0.0:0.1059	.	620	Q96RK0	CIC_HUMAN	S	620	.	ENSP00000160740:P620S	P	+	1	0	CIC	47486618	0.958000	0.32768	0.971000	0.41717	0.925000	0.55904	2.448000	0.44926	2.432000	0.82394	0.491000	0.48974	CCT	rs138450756	CIC	-	NULL		0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	0	0		24	24		0.00		C			42794778	+1	13		21		tier1	no_errors	ENST00000575354	ensembl	human	known	74_37	missense	38.24		SNP	0.955	T	13	21
PER1	5187	genome.wustl.edu	37	17	8046952	8046952	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:8046952G>A	ENST00000317276.4	-	19	2941	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	PER1_ENST00000581082.1_Missense_Mutation_p.P879S|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	902	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACAGATGTGGGAGCAGGGGGA	0.642			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					ENSG00000179094																												Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													6.0	6.0	6.0					17																	8046952		2113	4171	6284	SO:0001583	missense	0			-	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2704C>T	17.37:g.8046952G>A	ENSP00000314420:p.Pro902Ser		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.P902S	ENST00000317276.4	37	c.2704	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334296	0.41297	.	.	ENSG00000179094	ENST00000317276	T	0.13089	2.62	4.77	2.65	0.31530	.	0.273430	0.30419	N	0.009672	T	0.06962	0.0177	N	0.14661	0.345	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	T	0.28267	-1.0049	10	0.38643	T	0.18	-14.342	5.239	0.15462	0.1209:0.2069:0.6722:0.0	.	902	O15534	PER1_HUMAN	S	902	ENSP00000314420:P902S	ENSP00000314420:P902S	P	-	1	0	PER1	7987677	0.880000	0.30214	0.034000	0.17996	0.624000	0.37722	0.858000	0.27845	0.529000	0.28599	0.563000	0.77884	CCC	-	PER1	-	NULL		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	0	0		24	24		0.00		G			8046952	-1	14		19		tier1	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	42.42		SNP	0.956	A	14	19
GLP1R	2740	genome.wustl.edu	37	6	39025329	39025329	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:39025329C>T	ENST00000373256.4	+	3	300	c.257C>T	c.(256-258)cCc>cTc	p.P86L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	86					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GTCAGCTGCCCCTGGTACCTG	0.637													ENSG00000112164																																					0													106.0	85.0	92.0					6																	39025329		2203	4299	6502	SO:0001583	missense	0			-		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.257C>T	6.37:g.39025329C>T	ENSP00000362353:p.Pro86Leu		Q2M229|Q99669	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.P86L	ENST00000373256.4	37	c.257	CCDS4839.1	6	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395669	0.83011	.	.	ENSG00000112164	ENST00000373256	T	0.77098	-1.07	5.35	5.35	0.76521	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	D	0.000007	D	0.90270	0.6957	H	0.95151	3.63	0.53688	D	0.999979	D	0.76494	0.999	D	0.83275	0.996	D	0.92688	0.6164	10	0.87932	D	0	.	14.5516	0.68070	0.0:1.0:0.0:0.0	.	86	P43220	GLP1R_HUMAN	L	86	ENSP00000362353:P86L	ENSP00000362353:P86L	P	+	2	0	GLP1R	39133307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.426000	0.59882	2.504000	0.84457	0.655000	0.94253	CCC	-	GLP1R	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.637	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	0	0		99	99		0.00		C			39025329	+1	22		94		tier1	no_errors	ENST00000373256	ensembl	human	known	74_37	missense	18.97		SNP	1.000	T	22	94
MAGEB10	139422	genome.wustl.edu	37	X	27839441	27839441	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:27839441G>A	ENST00000356790.2	+	3	263	c.18G>A	c.(16-18)aaG>aaA	p.K6K		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	6				K -> E (in Ref. 1; BAB71522). {ECO:0000305}.						NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GAGGTCAGAAGAGTAAACTCC	0.527													ENSG00000177689																																					0													50.0	50.0	50.0					X																	27839441		2202	4300	6502	SO:0001819	synonymous_variant	0			-		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.18G>A	X.37:g.27839441G>A			Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K6	ENST00000356790.2	37	c.18	CCDS35221.1	X																																																																																			-	MAGEB10	-	pfam_Melanoma_ass_antigen_N		0.527	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	0	0		17	17		0.00		G	NM_182506		27839441	+1	11		27		tier1	no_errors	ENST00000356790	ensembl	human	known	74_37	silent	28.95		SNP	0.015	A	11	27
ACTBL2	345651	genome.wustl.edu	37	5	56777818	56777818	+	Silent	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:56777818C>G	ENST00000423391.1	-	1	818	c.717G>C	c.(715-717)cgG>cgC	p.R239R	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	239						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GTTCATAGCTCCGTTCCGGTG	0.547													ENSG00000169067																																					0													91.0	80.0	83.0					5																	56777818		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.717G>C	5.37:g.56777818C>G			B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R239	ENST00000423391.1	37	c.717	CCDS34163.1	5																																																																																			-	ACTBL2	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related		0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	0	0		34	34		0.00		C	NM_001017992		56777818	-1	16		26		tier1	no_errors	ENST00000423391	ensembl	human	known	74_37	silent	38.10		SNP	1.000	G	16	26
PRDM2	7799	genome.wustl.edu	37	1	14108398	14108398	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:14108398C>T	ENST00000235372.7	+	8	4964	c.4108C>T	c.(4108-4110)Cca>Tca	p.P1370S	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P1169S|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1370S|PRDM2_ENST00000413440.1_Missense_Mutation_p.P1169S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1370	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TAAGAAAAACCCAGTACCATT	0.453													ENSG00000116731																																					0													85.0	85.0	85.0					1																	14108398		2203	4300	6503	SO:0001583	missense	0			-	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4108C>T	1.37:g.14108398C>T	ENSP00000235372:p.Pro1370Ser		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.P1370S	ENST00000235372.7	37	c.4108	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216628	0.39201	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.20069	2.18;2.1;2.11;2.11	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.03043	-1.1079	10	0.59425	D	0.04	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	1228;1370;1370	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	S	1370;1370;1370;1169;1169	ENSP00000235372:P1370S;ENSP00000312352:P1370S;ENSP00000411103:P1169S;ENSP00000341621:P1169S	ENSP00000235372:P1370S	P	+	1	0	PRDM2	13980985	1.000000	0.71417	0.631000	0.29282	0.078000	0.17371	6.044000	0.71012	2.941000	0.99782	0.655000	0.94253	CCA	-	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	0	0		74	74		0.00		C	NM_012231		14108398	+1	43		54		tier1	no_errors	ENST00000235372	ensembl	human	known	74_37	missense	44.33		SNP	1.000	T	43	54
C12orf50	160419	genome.wustl.edu	37	12	88379735	88379735	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:88379735C>T	ENST00000298699.2	-	11	1198	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	C12orf50_ENST00000550553.1_Missense_Mutation_p.D301N	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	340										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGACAGCATCTCTTTGAACG	0.478													ENSG00000165805																																					0													216.0	206.0	209.0					12																	88379735		2203	4300	6503	SO:0001583	missense	0			-	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1018G>A	12.37:g.88379735C>T	ENSP00000298699:p.Asp340Asn		Q6P674	Missense_Mutation	SNP	NULL	p.D340N	ENST00000298699.2	37	c.1018	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780415	0.49891	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.34072	1.4;1.38	5.91	5.01	0.66863	.	0.273852	0.33346	N	0.005011	T	0.47581	0.1453	M	0.73962	2.25	0.28516	N	0.913324	P;P	0.45902	0.763;0.868	B;P	0.46758	0.382;0.526	T	0.53816	-0.8385	10	0.87932	D	0	.	14.2196	0.65818	0.0:0.8504:0.1496:0.0	.	355;340	G3V208;Q8NA57	.;CL050_HUMAN	N	340;301;355	ENSP00000298699:D340N;ENSP00000448344:D301N	ENSP00000298699:D340N	D	-	1	0	C12orf50	86903866	0.984000	0.35163	0.995000	0.50966	0.027000	0.11550	2.059000	0.41384	1.469000	0.48083	0.650000	0.86243	GAT	-	C12orf50	-	NULL		0.478	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	0	0		44	44		0.00		C	NM_152589		88379735	-1	12		60		tier1	no_errors	ENST00000298699	ensembl	human	known	74_37	missense	16.67		SNP	0.997	T	12	60
THSD7B	80731	genome.wustl.edu	37	2	137917851	137917851	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:137917851C>T	ENST00000409968.1	+	6	1616	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	THSD7B_ENST00000413152.2_Missense_Mutation_p.P449S|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.P480S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	480	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGCAATATCCCTTGCTCTAC	0.517													ENSG00000144229																																					0													166.0	166.0	166.0					2																	137917851		2049	4186	6235	SO:0001583	missense	0			-			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1438C>T	2.37:g.137917851C>T	ENSP00000387145:p.Pro480Ser			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.P480S	ENST00000409968.1	37	c.1438		2	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277636	0.59758	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62232	0.04;0.04;0.04	5.96	5.96	0.96718	.	0.046747	0.85682	D	0.000000	T	0.79569	0.4468	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.76372	-0.2983	10	0.40728	T	0.16	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	480;449	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	480;480;449	ENSP00000387145:P480S;ENSP00000272643:P480S;ENSP00000413841:P449S	ENSP00000272643:P480S	P	+	1	0	THSD7B	137634321	0.996000	0.38824	0.907000	0.35723	0.043000	0.13939	4.352000	0.59404	2.831000	0.97527	0.650000	0.86243	CCT	-	THSD7B	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.517	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	0	0		61	61		0.00		C	XM_046570.9		137917851	+1	15		47		tier1	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	24.19		SNP	0.996	T	15	47
SCN1A	6323	genome.wustl.edu	37	2	166848835	166848835	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:166848835G>A	ENST00000303395.4	-	26	4949	c.4950C>T	c.(4948-4950)atC>atT	p.I1650I	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Silent_p.I1650I|SCN1A_ENST00000409050.1_Silent_p.I1622I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1639I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1650					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCTCCTTTGATCAGACGTA	0.488													ENSG00000144285																																					0			GRCh37	CI072607	SCN1A	I							116.0	113.0	114.0					2																	166848835		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4950C>T	2.37:g.166848835G>A			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.I1650	ENST00000303395.4	37	c.4950	CCDS54413.1	2																																																																																			-	SCN1A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.488	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	0	0		125	125		0.00		G	NM_006920		166848835	-1	50		133		tier1	no_errors	ENST00000303395	ensembl	human	known	74_37	silent	27.17		SNP	1.000	A	50	133
FAM71B	153745	genome.wustl.edu	37	5	156590528	156590528	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:156590528G>A	ENST00000302938.4	-	2	843	c.748C>T	c.(748-750)Cca>Tca	p.P250S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	250	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCGTGGATGGAGAAGCCGCA	0.582													ENSG00000170613																																					0													84.0	74.0	77.0					5																	156590528		2203	4300	6503	SO:0001583	missense	0			-		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.748C>T	5.37:g.156590528G>A	ENSP00000305596:p.Pro250Ser		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.P250S	ENST00000302938.4	37	c.748	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.955180	0.00470	.	.	ENSG00000170613	ENST00000302938	T	0.03745	3.82	3.66	-7.32	0.01436	.	.	.	.	.	T	0.00998	0.0033	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36016	-0.9765	9	0.05525	T	0.97	8.3223	1.3962	0.02261	0.3141:0.1014:0.3201:0.2644	.	250	Q8TC56	FA71B_HUMAN	S	250	ENSP00000305596:P250S	ENSP00000305596:P250S	P	-	1	0	FAM71B	156523106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.266000	0.00263	-5.094000	0.00022	-1.223000	0.01593	CCA	-	FAM71B	-	NULL		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	0	0		39	39		0.00		G	NM_130899		156590528	-1	25		28		tier1	no_errors	ENST00000302938	ensembl	human	known	74_37	missense	47.17		SNP	0.000	A	25	28
CLK4	57396	genome.wustl.edu	37	5	178039427	178039427	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:178039427C>T	ENST00000316308.4	-	9	1209	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CCAAAATGACCTCGGGAGCTC	0.408													ENSG00000113240																																					0													63.0	62.0	62.0					5																	178039427		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1041G>A	5.37:g.178039427C>T				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.E347	ENST00000316308.4	37	c.1041	CCDS4437.1	5																																																																																			-	CLK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.408	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	0	0		83	83		0.00		C			178039427	-1	26		51		tier1	no_errors	ENST00000316308	ensembl	human	known	74_37	silent	33.77		SNP	1.000	T	26	51
OLFML3	56944	genome.wustl.edu	37	1	114523969	114523969	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:114523969G>A	ENST00000320334.4	+	3	873	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	OLFML3_ENST00000369551.1_Missense_Mutation_p.G247S|OLFML3_ENST00000393300.2_Missense_Mutation_p.G247S|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	267	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CCCCCCCTACGGCTTGACAGC	0.552													ENSG00000116774																																					0													74.0	67.0	69.0					1																	114523969		2203	4300	6503	SO:0001583	missense	0			-	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.799G>A	1.37:g.114523969G>A	ENSP00000322273:p.Gly267Ser		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.G267S	ENST00000320334.4	37	c.799	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	G	3.729	-0.056029	0.07362	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.87887	-2.31;-2.31;-2.31	5.96	2.95	0.34219	Olfactomedin-like (3);	0.236088	0.51477	N	0.000086	T	0.34366	0.0895	N	0.02158	-0.66	0.23445	N	0.997666	P;B	0.43314	0.803;0.094	B;B	0.31290	0.127;0.015	T	0.61569	-0.7036	10	0.05351	T	0.99	.	8.3764	0.32445	0.1312:0.0:0.7426:0.1262	.	247;267	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	S	247;267;247	ENSP00000358564:G247S;ENSP00000322273:G267S;ENSP00000376977:G247S	ENSP00000322273:G267S	G	+	1	0	OLFML3	114325492	0.254000	0.23992	0.620000	0.29132	0.077000	0.17291	1.734000	0.38166	0.859000	0.35456	-0.793000	0.03317	GGC	-	OLFML3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.552	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	0	0		30	30		0.00		G	NM_020190		114523969	+1	11		18		tier1	no_errors	ENST00000320334	ensembl	human	known	74_37	missense	37.93		SNP	0.271	A	11	18
COL6A1	1291	genome.wustl.edu	37	21	47417647	47417647	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47417647C>T	ENST00000361866.3	+	22	1609	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	499	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TGCCGGACCCCCTGGAGACCC	0.701													ENSG00000142156																																					0													20.0	25.0	24.0					21																	47417647		2187	4288	6475	SO:0001583	missense	0			-	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1495C>T	21.37:g.47417647C>T	ENSP00000355180:p.Pro499Ser		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.P499S	ENST00000361866.3	37	c.1495	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962818	0.34659	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93953	-3.32	4.48	2.61	0.31194	.	0.306885	0.30219	N	0.010127	D	0.89777	0.6813	L	0.57536	1.79	0.42178	D	0.991673	B	0.31769	0.339	B	0.33690	0.168	D	0.85404	0.1133	10	0.32370	T	0.25	-27.6034	7.7935	0.29133	0.0:0.8034:0.0:0.1966	.	499	P12109	CO6A1_HUMAN	S	499	ENSP00000355180:P499S	ENSP00000355180:P499S	P	+	1	0	COL6A1	46242075	0.703000	0.27826	0.996000	0.52242	0.254000	0.26022	2.604000	0.46274	1.025000	0.39708	0.447000	0.29281	CCT	-	COL6A1	-	pfam_Collagen		0.701	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	0	0		107	107		0.00		C	NM_001848		47417647	+1	25		118		tier1	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	17.48		SNP	0.992	T	25	118
SNORA11	677799	genome.wustl.edu	37	15	45507195	45507195	+	lincRNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:45507195G>A	ENST00000408163.1	-	0	36									small nucleolar RNA, H/ACA box 11																		GTAAACAGAGGAGCCATTCCT	0.507													ENSG00000261709																																					0																																												0			-	AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				15.37:g.45507195G>A				R	SNP	-	NULL	ENST00000408163.1	37	NULL		15																																																																																			-	SNORA11	-	-		0.507	SNORA11.6-201	NOVEL	basic	snoRNA	ENSG00000261709	RFAM	lincRNA		0	0		155	155		0.00		G	NR_002953		45507195	-1	78		70		tier1	no_errors	ENST00000564565	ensembl	human	known	74_37	rna	52.70		SNP	0.229	A	78	70
IQCH	64799	genome.wustl.edu	37	15	67709268	67709268	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:67709268G>A	ENST00000335894.4	+	15	2163		c.e15-1		IQCH_ENST00000546225.1_Splice_Site|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000358767.3_Splice_Site|IQCH_ENST00000360277.4_Splice_Site	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H											NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGTTTCTGCAGGAGCCAGCTT	0.448													ENSG00000103599																																					0													43.0	41.0	42.0					15																	67709268		2201	4299	6500	SO:0001630	splice_region_variant	0			-	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2098-1G>A	15.37:g.67709268G>A			A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Splice_Site	SNP	-	e15-1	ENST00000335894.4	37	c.2098-1	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817874	0.71028	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	.	.	.	5.2	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7727	0.63036	0.0742:0.0:0.9257:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCH	65496322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.697000	0.84279	1.329000	0.45376	0.561000	0.74099	.	-	IQCH	-	-		0.448	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	0	0		33	33		0.00		G	NM_022784	Intron	67709268	+1	13		11		tier1	no_errors	ENST00000335894	ensembl	human	known	74_37	splice_site	54.17		SNP	1.000	A	13	11
NPAS3	64067	genome.wustl.edu	37	14	34269006	34269006	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:34269006C>T	ENST00000356141.4	+	12	1493	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	NPAS3_ENST00000346562.2_Missense_Mutation_p.P466L|NPAS3_ENST00000548645.1_Missense_Mutation_p.P468L|NPAS3_ENST00000357798.5_Missense_Mutation_p.P485L|NPAS3_ENST00000551492.1_Missense_Mutation_p.P503L			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	498					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GACCCGGAGCCCGACCGGAAG	0.662													ENSG00000151322																																					0													38.0	36.0	36.0					14																	34269006		2202	4294	6496	SO:0001583	missense	0			-	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1493C>T	14.37:g.34269006C>T	ENSP00000348460:p.Pro498Leu		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.P498L	ENST00000356141.4	37	c.1493	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598935	0.66332	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.70986	-0.53;3.4;3.4;3.4;3.4;3.26	5.46	5.46	0.80206	.	0.382407	0.29246	N	0.012707	T	0.58552	0.2130	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.54159	-0.8335	10	0.52906	T	0.07	.	19.2983	0.94132	0.0:1.0:0.0:0.0	.	468;498;466;485	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	L	472;503;466;468;498;485	ENSP00000448373:P472L;ENSP00000450392:P503L;ENSP00000319610:P466L;ENSP00000448916:P468L;ENSP00000348460:P498L;ENSP00000350446:P485L	ENSP00000319610:P466L	P	+	2	0	NPAS3	33338757	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	4.375000	0.59549	2.560000	0.86352	0.555000	0.69702	CCC	-	NPAS3	-	NULL		0.662	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	0	0		101	101		0.00		C			34269006	+1	54		49		tier1	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	52.43		SNP	1.000	T	54	49
RP11-897M7.1	0	genome.wustl.edu	37	12	131953915	131953915	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:131953915C>T	ENST00000535133.1	-	0	433																											GTGAGGAGCTCCCTGGAGCCC	0.637													ENSG00000256209																																					0																																												0			-																													12.37:g.131953915C>T				R	SNP	-	NULL	ENST00000535133.1	37	NULL		12																																																																																			-	RP11-897M7.1	-	-		0.637	RP11-897M7.1-003	KNOWN	basic	lincRNA	ENSG00000256209	Clone_based_vega_gene	lincRNA	OTTHUMT00000399228.1	0	0		16	16		0.00		C			131953915	-1	18		10		tier1	no_errors	ENST00000535133	ensembl	human	known	74_37	rna	64.29		SNP	0.001	T	18	10
SPAG16	79582	genome.wustl.edu	37	2	214161842	214161842	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:214161842C>T	ENST00000331683.5	+	3	278				SPAG16_ENST00000432529.2_Intron|SPAG16_ENST00000413312.1_Intron|SPAG16_ENST00000447990.1_Intron|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000272898.7_Intron|SPAG16_ENST00000414961.2_Intron	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16						cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ATTCATTTTTCATGGATCTTC	0.284													ENSG00000144451																																					0																																										SO:0001627	intron_variant	0			-	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.184-144C>T	2.37:g.214161842C>T			Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	NULL	p.H94Y	ENST00000331683.5	37	c.280	CCDS2396.1	2																																																																																			-	SPAG16	-	NULL		0.284	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	0	0		54	54		0.00		C	NM_024532		214161842	+1	7		39		tier1	no_errors	ENST00000420497	ensembl	human	known	74_37	missense	15.22		SNP	0.030	T	7	39
C6orf47	57827	genome.wustl.edu	37	6	31628398	31628398	+	5'UTR	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31628398C>T	ENST00000375911.1	-	0	151				Y_RNA_ENST00000364337.1_RNA|C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47							cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						ACTAAGATGTCCTCAGAGATC	0.637													ENSG00000227198																																					0																																										SO:0001623	5_prime_UTR_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.-674G>A	6.37:g.31628398C>T			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	R	SNP	-	NULL	ENST00000375911.1	37	NULL	CCDS34399.1	6																																																																																			-	C6orf47-AS1	-	-		0.637	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf47-AS1	HGNC	protein_coding	OTTHUMT00000076324.1	0	0		27	27		0.00		C	NM_021184		31628398	+1	29		22		tier1	no_errors	ENST00000422049	ensembl	human	known	74_37	rna	56.86		SNP	0.324	T	29	22
SLC39A7	7922	genome.wustl.edu	37	6	33171585	33171585	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33171585G>A	ENST00000374677.3	+	7	1778	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.E469K|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	469				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	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						TGCCCACCTTGAGTGAGGGGT	0.597													ENSG00000112473																																					0													52.0	54.0	54.0					6																	33171585		1970	4149	6119	SO:0001583	missense	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.1405G>A	6.37:g.33171585G>A	ENSP00000363809:p.Glu469Lys		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.E469K	ENST00000374677.3	37	c.1405	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475974	0.63737	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.65364	-0.15;-0.15	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	M	0.81112	2.525	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72625	0.971;0.978	T	0.79438	-0.1803	10	0.87932	D	0	-4.943	15.3789	0.74637	0.0:0.0:1.0:0.0	.	450;469	B4DVK8;Q92504	.;S39A7_HUMAN	K	469;450;374;469	ENSP00000363807:E469K;ENSP00000363809:E469K	ENSP00000363807:E469K	E	+	1	0	SLC39A7	33279563	1.000000	0.71417	0.966000	0.40874	0.209000	0.24338	7.164000	0.77533	2.494000	0.84150	0.549000	0.68633	GAG	-	SLC39A7	-	NULL		0.597	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	0	0		25	25		0.00		G	NM_006979		33171585	+1	7		12		tier1	no_errors	ENST00000374675	ensembl	human	known	74_37	missense	36.84		SNP	0.999	A	7	12
PDYN	5173	genome.wustl.edu	37	20	1961227	1961227	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:1961227C>T	ENST00000217305.2	-	4	732	c.507G>A	c.(505-507)aaG>aaA	p.K169K	PDYN_ENST00000539905.1_Silent_p.K169K|PDYN_ENST00000540134.1_Silent_p.K169K|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	169					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACCTGCTCCTTGGGGTCCT	0.597													ENSG00000101327																																					0													106.0	105.0	105.0					20																	1961227		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.507G>A	20.37:g.1961227C>T			A8K0Q3	Silent	SNP	pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept	p.K169	ENST00000217305.2	37	c.507	CCDS13023.1	20																																																																																			-	PDYN	-	NULL		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDYN	HGNC	protein_coding	OTTHUMT00000077569.2	0	0		37	37		0.00		C			1961227	-1	14		68		tier1	no_errors	ENST00000217305	ensembl	human	known	74_37	silent	17.07		SNP	0.932	T	14	68
NUP93	9688	genome.wustl.edu	37	16	56855473	56855473	+	Missense_Mutation	SNP	C	C	T	rs146924670		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:56855473C>T	ENST00000308159.5	+	7	743	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F	NUP93_ENST00000542526.1_Missense_Mutation_p.L85F|NUP93_ENST00000564887.1_Missense_Mutation_p.L85F|NUP93_ENST00000569842.1_Missense_Mutation_p.L208F	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	208					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)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCTGGTGGACCTTTGTGCTTC	0.428													ENSG00000102900																									Colon(33;610 796 1305 1705 38917)												0													84.0	86.0	85.0					16																	56855473		2198	4300	6498	SO:0001583	missense	0			-	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.622C>T	16.37:g.56855473C>T	ENSP00000310668:p.Leu208Phe		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.L208F	ENST00000308159.5	37	c.622	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	14.06	2.424194	0.43020	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.44881	0.91;0.91	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	L	0.28740	0.885	0.58432	D	0.999999	B	0.31077	0.307	B	0.29598	0.104	T	0.06917	-1.0800	10	0.07990	T	0.79	-15.0603	14.0584	0.64784	0.0:0.9284:0.0:0.0716	.	208	Q8N1F7	NUP93_HUMAN	F	208;85	ENSP00000310668:L208F;ENSP00000440235:L85F	ENSP00000310668:L208F	L	+	1	0	NUP93	55412974	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.489000	0.35562	2.687000	0.91594	0.655000	0.94253	CTT	-	NUP93	-	pfam_Nucleoporin_int_Nup93/Nic96		0.428	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	0	0		97	97		0.00		C	NM_014669		56855473	+1	36		47		tier1	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	43.37		SNP	1.000	T	36	47
NMUR2	56923	genome.wustl.edu	37	5	151784535	151784535	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:151784535G>A	ENST00000255262.3	-	1	305	c.140C>T	c.(139-141)cCc>cTc	p.P47L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	47					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CACAGACACGGGGAGGAAGAA	0.552													ENSG00000132911																																					0													98.0	93.0	95.0					5																	151784535		2203	4300	6503	SO:0001583	missense	0			-	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.140C>T	5.37:g.151784535G>A	ENSP00000255262:p.Pro47Leu		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.P47L	ENST00000255262.3	37	c.140	CCDS4321.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509806	0.85282	.	.	ENSG00000132911	ENST00000255262	T	0.32272	1.46	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	T	0.61438	0.2347	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66272	-0.5965	10	0.87932	D	0	-30.0162	18.4906	0.90846	0.0:0.0:1.0:0.0	.	47	Q9GZQ4	NMUR2_HUMAN	L	47	ENSP00000255262:P47L	ENSP00000255262:P47L	P	-	2	0	NMUR2	151764728	1.000000	0.71417	0.918000	0.36340	0.743000	0.42351	9.442000	0.97566	2.607000	0.88179	0.655000	0.94253	CCC	-	NMUR2	-	prints_GPCR_Rhodpsn		0.552	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	HGNC	protein_coding	OTTHUMT00000252439.1	0	0		68	68		0.00		G	NM_020167		151784535	-1	23		48		tier1	no_errors	ENST00000255262	ensembl	human	known	74_37	missense	32.39		SNP	1.000	A	23	48
TOE1	114034	genome.wustl.edu	37	1	45806842	45806842	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:45806842C>T	ENST00000372090.5	+	2	733	c.150C>T	c.(148-150)tcC>tcT	p.S50S	TOE1_ENST00000539779.1_Intron|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000456914.2_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	50						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGTGGCCATCCCTCCTGCTAG	0.537													ENSG00000132773																																					0													125.0	107.0	113.0					1																	45806842		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.150C>T	1.37:g.45806842C>T			B4DEM6|Q6IA35|Q8IWN5|Q9H846	Silent	SNP	pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom	p.S50	ENST00000372090.5	37	c.150	CCDS521.1	1																																																																																			-	TOE1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.537	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	HGNC	protein_coding	OTTHUMT00000020517.1	0	0		69	69		0.00		C	NM_025077		45806842	+1	20		101		tier1	no_errors	ENST00000372090	ensembl	human	known	74_37	silent	16.53		SNP	0.981	T	20	101
ABI3BP	25890	genome.wustl.edu	37	3	100470480	100470480	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:100470480C>T	ENST00000284322.5	-	34	3137	c.3028G>A	c.(3028-3030)Gaa>Aaa	p.E1010K	ABI3BP_ENST00000383691.4_Missense_Mutation_p.E964K|ABI3BP_ENST00000471714.1_Missense_Mutation_p.E1712K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	1010					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGTGATCTTCTCCATGGCCC	0.378													ENSG00000154175																																					0													72.0	67.0	68.0					3																	100470480		1872	4095	5967	SO:0001583	missense	0			-	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.3028G>A	3.37:g.100470480C>T	ENSP00000284322:p.Glu1010Lys		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E1010K	ENST00000284322.5	37	c.3028	CCDS46880.1	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638155	0.87760	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	T;T;T	0.55234	0.53;0.53;0.53	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	L	0.46885	1.475	0.80722	D	1	P;B;B;P	0.40360	0.714;0.042;0.131;0.541	B;B;B;B	0.35039	0.194;0.033;0.132;0.16	T	0.55379	-0.8150	10	0.87932	D	0	-13.9391	20.088	0.97803	0.0:1.0:0.0:0.0	.	964;1010;1712;719	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	K	1712;1010;719;421;964	ENSP00000420524:E1712K;ENSP00000284322:E1010K;ENSP00000373189:E964K	ENSP00000284322:E1010K	E	-	1	0	ABI3BP	101953170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.678000	0.84035	2.739000	0.93911	0.655000	0.94253	GAA	-	ABI3BP	-	NULL		0.378	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	0	0		115	115		0.00		C			100470480	-1	45		64		tier1	no_errors	ENST00000284322	ensembl	human	known	74_37	missense	40.91		SNP	1.000	T	45	64
NCAPD2	9918	genome.wustl.edu	37	12	6637024	6637024	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:6637024C>T	ENST00000315579.5	+	23	3788	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R952C|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	997					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.R997C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493													ENSG00000010292																																					1	Substitution - Missense(1)	endometrium(1)											132.0	132.0	132.0					12																	6637024		2203	4300	6503	SO:0001583	missense	0			-	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2989C>T	12.37:g.6637024C>T	ENSP00000325017:p.Arg997Cys		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.R997C	ENST00000315579.5	37	c.2989	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050528	0.55218	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.14022	2.54;2.54;2.54	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.999	D;P;P	0.68765	0.96;0.677;0.863	T	0.05550	-1.0878	10	0.59425	D	0.04	-16.4149	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	952;958;997	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	C	997;869;952;869	ENSP00000325017:R997C;ENSP00000371895:R869C;ENSP00000444417:R952C	ENSP00000325017:R997C	R	+	1	0	NCAPD2	6507285	1.000000	0.71417	0.954000	0.39281	0.127000	0.20565	3.691000	0.54720	2.824000	0.97209	0.655000	0.94253	CGT	-	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.493	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	0	0		54	54		0.00		C	NM_014865		6637024	+1	15		42		tier1	no_errors	ENST00000315579	ensembl	human	known	74_37	missense	26.32		SNP	1.000	T	15	42
FCRL4	83417	genome.wustl.edu	37	1	157550198	157550198	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:157550198C>T	ENST00000271532.1	-	8	1385				FCRL4_ENST00000448509.2_Intron	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TCAATGACTTCATGTAACAGG	0.423													ENSG00000163518																																					0													86.0	72.0	76.0					1																	157550198		692	1591	2283	SO:0001627	intron_variant	0			-	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1250-60G>A	1.37:g.157550198C>T			Q96PJ3|Q96RE0	R	SNP	-	NULL	ENST00000271532.1	37	NULL	CCDS1166.1	1																																																																																			-	FCRL4	-	-		0.423	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	0	0		41	41		0.00		C	NM_031282		157550198	-1	20		44		tier1	no_errors	ENST00000479869	ensembl	human	known	74_37	rna	31.25		SNP	0.041	T	20	44
GOLGB1	2804	genome.wustl.edu	37	3	121411130	121411130	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:121411130A>T	ENST00000340645.5	-	14	7191	c.7066T>A	c.(7066-7068)Tat>Aat	p.Y2356N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Y2361N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2356					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTTGTTCATAACTGAACTTA	0.368													ENSG00000173230																																					0													83.0	82.0	83.0					3																	121411130		2203	4300	6503	SO:0001583	missense	0			-	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7066T>A	3.37:g.121411130A>T	ENSP00000341848:p.Tyr2356Asn		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Y2356N	ENST00000340645.5	37	c.7066	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648491	0.29336	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.12879	2.64;2.64	6.03	3.63	0.41609	.	0.318365	0.27366	N	0.019698	T	0.18635	0.0447	L	0.44542	1.39	0.25482	N	0.98773	D;B;B	0.63880	0.993;0.01;0.144	P;B;B	0.59487	0.858;0.01;0.053	T	0.07809	-1.0753	10	0.27082	T	0.32	.	4.3319	0.11067	0.6075:0.0:0.0813:0.3112	.	2361;2361;2356	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	N	2356;2361	ENSP00000341848:Y2356N;ENSP00000377275:Y2361N	ENSP00000341848:Y2356N	Y	-	1	0	GOLGB1	122893820	0.972000	0.33761	1.000000	0.80357	0.943000	0.58893	1.971000	0.40530	1.053000	0.40415	0.533000	0.62120	TAT	-	GOLGB1	-	NULL		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	0	0		30	30		0.00		A	NM_004487		121411130	-1	12		25		tier1	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	32.43		SNP	0.996	T	12	25
GTF3C1	2975	genome.wustl.edu	37	16	27503659	27503659	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:27503659C>T	ENST00000356183.4	-	19	3166	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	GTF3C1_ENST00000561623.1_Splice_Site_p.G1051S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1051					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGACACCCACCTAGTGGGGTG	0.552													ENSG00000077235																																					0													55.0	57.0	57.0					16																	27503659		2197	4300	6497	SO:0001630	splice_region_variant	0			-	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3151+1G>A	16.37:g.27503659C>T			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.G1051S	ENST00000356183.4	37	c.3151	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.717933	0.96839	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.41400	1.0	5.81	5.81	0.92471	.	0.059694	0.64402	D	0.000002	T	0.66107	0.2756	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63466	-0.6631	9	.	.	.	-17.711	19.693	0.96009	0.0:1.0:0.0:0.0	.	1051;1051	Q12789;Q12789-3	TF3C1_HUMAN;.	S	1051;1049	ENSP00000348510:G1051S	.	G	-	1	0	GTF3C1	27411160	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.240000	0.78192	2.746000	0.94184	0.655000	0.94253	GGC	-	GTF3C1	-	NULL		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	0	0		50	50		0.00		C	NM_001520	Missense_Mutation	27503659	-1	23		36		tier1	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	38.98		SNP	1.000	T	23	36
CACNA1E	777	genome.wustl.edu	37	1	181701796	181701796	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:181701796G>A	ENST00000367573.2	+	20	2574	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G	CACNA1E_ENST00000367570.1_Silent_p.G858G|CACNA1E_ENST00000526775.1_Silent_p.G839G|CACNA1E_ENST00000360108.3_Silent_p.G839G|CACNA1E_ENST00000367567.4_Silent_p.G465G|CACNA1E_ENST00000358338.5_Silent_p.G790G|CACNA1E_ENST00000357570.5_Silent_p.G809G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	858					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCTCAAGGGGGATGGAGGGG	0.672													ENSG00000198216																																					0													12.0	15.0	14.0					1																	181701796		1922	4108	6030	SO:0001819	synonymous_variant	0			-	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2574G>A	1.37:g.181701796G>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G858	ENST00000367573.2	37	c.2574	CCDS55664.1	1																																																																																			-	CAC1E	-	NULL		0.672	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CAC1E	HGNC	protein_coding	OTTHUMT00000090793.2	0	0		99	99		0.00		G	NM_000721		181701796	+1	49		65		tier1	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	42.98		SNP	0.566	A	49	65
DNAH9	1770	genome.wustl.edu	37	17	11795159	11795159	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:11795159G>A	ENST00000262442.4	+	58	11246	c.11178G>A	c.(11176-11178)cgG>cgA	p.R3726R	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.R3726R|DNAH9_ENST00000608377.1_Silent_p.R38R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3726			R -> Q (in dbSNP:rs16945431).|R -> W (in dbSNP:rs3760436).		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)		TCAGGGAGCGGGTGGCCAACC	0.547													ENSG00000007174																																					0													147.0	142.0	144.0					17																	11795159		2203	4300	6503	SO:0001819	synonymous_variant	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.11178G>A	17.37:g.11795159G>A			A2VCQ8|O15064|O95494|Q9NQ28	Silent	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.R3726	ENST00000262442.4	37	c.11178	CCDS11160.1	17																																																																																			-	DH9	-	NULL		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH9	HGNC	protein_coding	OTTHUMT00000252756.2	0	0		57	57		0.00		G	NM_001372		11795159	+1	24		47		tier1	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	33.33		SNP	0.000	A	24	47
SNAP29	9342	genome.wustl.edu	37	22	21224624	21224624	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:21224624G>A	ENST00000215730.7	+	2	365		c.e2-1			NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GGTTTCCCCAGGAGCTCGCCC	0.537													ENSG00000099940																																					0													76.0	70.0	72.0					22																	21224624		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.238-1G>A	22.37:g.21224624G>A				Splice_Site	SNP	-	e2-1	ENST00000215730.7	37	c.238-1	CCDS13784.1	22	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159827	0.57368	.	.	ENSG00000099940	ENST00000215730	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5775	0.95450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNAP29	19554624	1.000000	0.71417	0.985000	0.45067	0.227000	0.25037	9.776000	0.99001	2.625000	0.88918	0.591000	0.81541	.	-	SP29	-	-		0.537	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP29	HGNC	protein_coding	OTTHUMT00000320000.4	0	0		39	39		0.00		G	NM_004782	Intron	21224624	+1	31		48		tier1	no_errors	ENST00000215730	ensembl	human	known	74_37	splice_site	39.24		SNP	1.000	A	31	48
C6orf165	154313	genome.wustl.edu	37	6	88128033	88128033	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:88128033G>A	ENST00000507897.1	+	7	822	c.739G>A	c.(739-741)Gca>Aca	p.A247T	C6ORF165_ENST00000369562.4_Missense_Mutation_p.A247T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	247										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CCTTGAGAAGGCAGCCAACGA	0.463													ENSG00000272514																																					0													101.0	97.0	98.0					6																	88128033		2203	4300	6503	SO:0001583	missense	0			-	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.739G>A	6.37:g.88128033G>A	ENSP00000426769:p.Ala247Thr		A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	pfam_DUF3508	p.A247T	ENST00000507897.1	37	c.739	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	G	1.125	-0.654055	0.03480	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.31247	1.5;1.53	5.16	3.21	0.36854	.	0.863247	0.10374	N	0.682399	T	0.08537	0.0212	L	0.46157	1.445	0.09310	N	1	B;B	0.32753	0.267;0.383	B;B	0.31101	0.124;0.079	T	0.28808	-1.0032	10	0.16896	T	0.51	.	4.1368	0.10174	0.1697:0.0:0.478:0.3523	.	247;247	Q8IYR0;E1P509	CF165_HUMAN;.	T	247	ENSP00000358575:A247T;ENSP00000422494:A247T	ENSP00000358575:A247T	A	+	1	0	C6orf165	88184752	0.010000	0.17322	0.018000	0.16275	0.051000	0.14879	1.259000	0.32956	1.270000	0.44297	0.591000	0.81541	GCA	-	C6ORF165	-	pfam_DUF3508		0.463	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	Uniprot_gn	protein_coding	OTTHUMT00000470406.1	0	0		88	88		0.00		G	NM_178823		88128033	+1	52		39		tier1	no_errors	ENST00000369562	ensembl	human	known	74_37	missense	57.14		SNP	0.000	A	52	39
POLRMT	5442	genome.wustl.edu	37	19	621793	621793	+	Silent	SNP	C	C	T	rs543996685		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:621793C>T	ENST00000588649.2	-	10	1989	c.1905G>A	c.(1903-1905)gcG>gcA	p.A635A	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	635					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGTGGGCTCCGCGGCCTTCT	0.682													ENSG00000099821	C|||	1	0.000199681	0.0	0.0	5008	,	,		13811	0.001		0.0	False		,,,				2504	0.0																0													30.0	33.0	32.0					19																	621793		2201	4298	6499	SO:0001819	synonymous_variant	0			-		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1905G>A	19.37:g.621793C>T			O60370	Silent	SNP	pfam_D-dir_Rpol_phage-type	p.A635	ENST00000588649.2	37	c.1905	CCDS12036.1	19																																																																																			-	POLRMT	-	NULL		0.682	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	0	0		22	22		0.00		C	NM_005035		621793	-1	8		14		tier1	no_errors	ENST00000588649	ensembl	human	known	74_37	silent	36.36		SNP	0.000	T	8	14
ZNF623	9831	genome.wustl.edu	37	8	144733164	144733164	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144733164C>T	ENST00000501748.2	+	1	1211	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	ZNF623_ENST00000526926.1_Silent_p.L334L|ZNF623_ENST00000458270.2_Silent_p.L334L	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	374					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(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGAGAAACTCTATGAATGTA	0.448													ENSG00000183309																																					0													70.0	68.0	68.0					8																	144733164		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1122C>T	8.37:g.144733164C>T			A4FU80|B4DGP3|E7ENV5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L374	ENST00000501748.2	37	c.1122	CCDS34957.1	8																																																																																			-	ZNF623	-	pfscan_Znf_C2H2		0.448	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3	0	0		61	61		0.00		C	NM_014789		144733164	+1	34		59		tier1	no_errors	ENST00000501748	ensembl	human	known	74_37	silent	36.56		SNP	0.785	T	34	59
OR56B4	196335	genome.wustl.edu	37	11	6129372	6129372	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6129372C>T	ENST00000316529.3	+	1	459	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATCTTTCTCTGCATGGC	0.483													ENSG00000180919																																					0													142.0	130.0	134.0					11																	6129372		2201	4296	6497	SO:0001583	missense	0			-	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.364C>T	11.37:g.6129372C>T	ENSP00000321196:p.Leu122Phe		Q6IFD7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.L122F	ENST00000316529.3	37	c.364	CCDS31406.1	11	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279813	0.10458	.	.	ENSG00000180919	ENST00000316529	T	0.36340	1.26	4.06	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.269330	0.19395	U	0.115314	T	0.43875	0.1267	M	0.83774	2.66	0.09310	N	1	B	0.30664	0.289	B	0.40477	0.33	T	0.48422	-0.9037	10	0.72032	D	0.01	.	4.6796	0.12729	0.1516:0.6154:0.1473:0.0857	.	122	Q8NH76	O56B4_HUMAN	F	122	ENSP00000321196:L122F	ENSP00000321196:L122F	L	+	1	0	OR56B4	6085948	0.000000	0.05858	0.988000	0.46212	0.046000	0.14306	-0.402000	0.07223	0.403000	0.25479	-0.347000	0.07816	CTC	-	OR56B4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.483	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B4	HGNC	protein_coding	OTTHUMT00000384668.1	0	0		22	22		0.00		C	NM_001005181		6129372	+1	4		24		tier1	no_errors	ENST00000316529	ensembl	human	known	74_37	missense	14.29		SNP	0.053	T	4	24
TIE1	7075	genome.wustl.edu	37	1	43775167	43775167	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:43775167G>A	ENST00000372476.3	+	9	1376	c.1297G>A	c.(1297-1299)Ggc>Agc	p.G433S	TIE1_ENST00000433781.2_Missense_Mutation_p.G78S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	433					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACATCTGGCGGCCAAGACAG	0.582													ENSG00000066056																																					0													95.0	83.0	87.0					1																	43775167		2203	4300	6503	SO:0001583	missense	0			-	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1297G>A	1.37:g.43775167G>A	ENSP00000361554:p.Gly433Ser		B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G433S	ENST00000372476.3	37	c.1297	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.640307	0.96693	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.58940	0.3;0.3	4.93	4.93	0.64822	Immunoglobulin-like fold (1);	0.000000	0.41001	D	0.000966	T	0.77452	0.4132	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	T	0.80951	-0.1153	10	0.72032	D	0.01	.	18.1658	0.89724	0.0:0.0:1.0:0.0	.	78;388;433;78;433	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	S	433;78	ENSP00000361554:G433S;ENSP00000411728:G78S	ENSP00000361554:G433S	G	+	1	0	TIE1	43547754	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.188000	0.94921	2.288000	0.76882	0.563000	0.77884	GGC	-	TIE1	-	smart_Ig_sub		0.582	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	0	0		78	78		0.00		G	NM_005424		43775167	+1	19		82		tier1	no_errors	ENST00000372476	ensembl	human	known	74_37	missense	18.81		SNP	1.000	A	19	82
AP2M1	1173	genome.wustl.edu	37	3	183897978	183897978	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:183897978C>T	ENST00000292807.5	+	4	510	c.362C>T	c.(361-363)cCa>cTa	p.P121L	AP2M1_ENST00000411763.2_Missense_Mutation_p.P146L|AP2M1_ENST00000439647.1_Missense_Mutation_p.P121L|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.P121L	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	121					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGGCTACCCACAGAATTCC	0.517													ENSG00000161203																																					0													63.0	63.0	63.0					3																	183897978		1947	4136	6083	SO:0001583	missense	0			-	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.362C>T	3.37:g.183897978C>T	ENSP00000292807:p.Pro121Leu		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.P121L	ENST00000292807.5	37	c.362	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737466	0.89482	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000448139;ENST00000439647;ENST00000432591;ENST00000431779	T;T;T;T	0.71103	-0.42;-0.54;-0.47;-0.42	5.38	5.38	0.77491	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.89121	0.6625	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.996	D	0.91518	0.5232	10	0.87932	D	0	.	19.3311	0.94288	0.0:1.0:0.0:0.0	.	121;146;121	Q96CW1;E9PFW3;Q96CW1-2	AP2M1_HUMAN;.;.	L	121;146;121;61;108;123;121;121;121	ENSP00000371894:P121L;ENSP00000403362:P146L;ENSP00000292807:P121L;ENSP00000409081:P121L	ENSP00000292807:P121L	P	+	2	0	AP2M1	185380672	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.110000	0.77069	2.813000	0.96785	0.655000	0.94253	CCA	-	AP2M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu		0.517	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	0	0		58	58		0.00		C	NM_004068		183897978	+1	21		49		tier1	no_errors	ENST00000292807	ensembl	human	known	74_37	missense	29.58		SNP	1.000	T	21	49
ZSCAN29	146050	genome.wustl.edu	37	15	43658600	43658600	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:43658600C>T	ENST00000396976.2	-	3	1064	c.930G>A	c.(928-930)cgG>cgA	p.R310R	ZSCAN29_ENST00000562072.1_Silent_p.R309R|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	310					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTTGACTTTCCGATAGCTCT	0.567													ENSG00000140265																																					0													80.0	87.0	85.0					15																	43658600		2201	4299	6500	SO:0001819	synonymous_variant	0			-	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.930G>A	15.37:g.43658600C>T			B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R310	ENST00000396976.2	37	c.930	CCDS10095.2	15																																																																																			-	ZSCAN29	-	NULL		0.567	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	0	0		33	33		0.00		C	NM_152455		43658600	-1	11		22		tier1	no_errors	ENST00000396976	ensembl	human	known	74_37	silent	33.33		SNP	0.938	T	11	22
AOX1	316	genome.wustl.edu	37	2	201515794	201515794	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:201515794C>T	ENST00000374700.2	+	26	3186	c.2945C>T	c.(2944-2946)gCc>gTc	p.A982V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	982					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATGTATGGCCATGTCTTCC	0.423													ENSG00000138356																																					0													165.0	154.0	158.0					2																	201515794		2203	4300	6503	SO:0001583	missense	0			-	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2945C>T	2.37:g.201515794C>T	ENSP00000363832:p.Ala982Val		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.A982V	ENST00000374700.2	37	c.2945	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	11.00	1.508880	0.27036	.	.	ENSG00000138356	ENST00000374700	T	0.45668	0.89	5.41	4.47	0.54385	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.999763	0.08090	N	0.999428	T	0.34454	0.0898	L	0.28400	0.85	0.26942	N	0.966235	B	0.10296	0.003	B	0.15870	0.014	T	0.05971	-1.0853	10	0.44086	T	0.13	-20.6211	11.3852	0.49780	0.3442:0.6558:0.0:0.0	.	982	Q06278	ADO_HUMAN	V	982	ENSP00000363832:A982V	ENSP00000363832:A982V	A	+	2	0	AOX1	201224039	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	1.393000	0.34497	2.826000	0.97356	0.655000	0.94253	GCC	-	AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.423	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	0	0		82	82		0.00		C	NM_001159		201515794	+1	43		50		tier1	no_errors	ENST00000374700	ensembl	human	known	74_37	missense	46.24		SNP	1.000	T	43	50
OR5T2	219464	genome.wustl.edu	37	11	56000263	56000263	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:56000263G>A	ENST00000313264.4	-	1	474	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	133						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)					CACATCCAAGGAATGAAATGA	0.388													ENSG00000181718																																					0													133.0	120.0	125.0					11																	56000263		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.399C>T	11.37:g.56000263G>A			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F133	ENST00000313264.4	37	c.399	CCDS31523.1	11																																																																																			-	OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.388	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	0	0		45	45		0.00		G	NM_001004746		56000263	-1	18		33		tier1	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	34.62		SNP	0.000	A	18	33
TINAG	27283	genome.wustl.edu	37	6	54185424	54185424	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:54185424G>A	ENST00000259782.4	+	2	499	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	TINAG_ENST00000370869.3_Missense_Mutation_p.E131K|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.E117K	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	135					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGTAATTAAAGAAAACTGCAA	0.318													ENSG00000137251																																					0													128.0	137.0	134.0					6																	54185424		2203	4298	6501	SO:0001583	missense	0			-	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.403G>A	6.37:g.54185424G>A	ENSP00000259782:p.Glu135Lys		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.E135K	ENST00000259782.4	37	c.403	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155732	0.57259	.	.	ENSG00000137251	ENST00000370869;ENST00000259782;ENST00000370864	T;T;T	0.65364	-0.15;-0.15;-0.15	5.5	5.5	0.81552	.	0.169650	0.41823	N	0.000819	T	0.49133	0.1539	L	0.45698	1.435	0.31148	N	0.70588	P;D	0.53151	0.546;0.958	B;P	0.47528	0.161;0.549	T	0.50625	-0.8806	10	0.34782	T	0.22	.	14.8827	0.70545	0.0:0.0:1.0:0.0	.	135;135	Q9UJW2;Q7Z477	TINAG_HUMAN;.	K	131;135;117	ENSP00000359906:E131K;ENSP00000259782:E135K;ENSP00000359901:E117K	ENSP00000259782:E135K	E	+	1	0	TINAG	54293383	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.896000	0.56266	2.568000	0.86640	0.563000	0.77884	GAA	-	TIG	-	NULL		0.318	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIG	HGNC	protein_coding	OTTHUMT00000040984.1	0	0		72	72		0.00		G	NM_014464		54185424	+1	12		77		tier1	no_errors	ENST00000259782	ensembl	human	known	74_37	missense	13.33		SNP	1.000	A	12	77
PDE4DIP	9659	genome.wustl.edu	37	1	144882558	144882558	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:144882558A>G	ENST00000369354.3	-	24	3650	c.3461T>C	c.(3460-3462)gTt>gCt	p.V1154A	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.V1291A|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V1291A|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V1154A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1154					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)		AGGGGAACCAACCAGTTCTGT	0.512			T	PDGFRB	MPD								ENSG00000178104																												Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													150.0	143.0	146.0					1																	144882558		2203	4296	6499	SO:0001583	missense	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.3461T>C	1.37:g.144882558A>G	ENSP00000358360:p.Val1154Ala		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	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.V1154A	ENST00000369354.3	37	c.3461	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178721	0.21787	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01369	4.99;4.99;4.97;4.97	5.99	-6.74	0.01743	.	.	.	.	.	T	0.00271	0.0008	L	0.31664	0.95	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.47114	-0.9142	9	0.08179	T	0.78	.	4.0769	0.09908	0.2354:0.2175:0.4408:0.1063	.	1154	Q5VU43	MYOME_HUMAN	A	1154;1154;1291;1291	ENSP00000358360:V1154A;ENSP00000358363:V1154A;ENSP00000435654:V1291A;ENSP00000358366:V1291A	ENSP00000358360:V1154A	V	-	2	0	PDE4DIP	143593915	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.491000	0.06474	-1.336000	0.02238	-0.250000	0.11733	GTT	-	PDE4DIP	-	NULL		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	1	1		111	111		0.89		A	NM_022359		144882558	-1	21		128		tier1	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	14.09		SNP	0.000	G	21	128
RIMBP2	23504	genome.wustl.edu	37	12	130926872	130926872	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:130926872C>T	ENST00000261655.4	-	8	1137	c.974G>A	c.(973-975)gGa>gAa	p.G325E	RIMBP2_ENST00000535703.1_Missense_Mutation_p.G233E|RIMBP2_ENST00000536002.1_Missense_Mutation_p.G233E	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	325	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGTTCCCCATCCTGGTGGCAC	0.552													ENSG00000060709																																					0													153.0	146.0	148.0					12																	130926872		2203	4300	6503	SO:0001583	missense	0			-	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.974G>A	12.37:g.130926872C>T	ENSP00000261655:p.Gly325Glu		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.G325E	ENST00000261655.4	37	c.974	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801283	0.31869	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.61274	0.12;0.12;0.12	4.27	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.61510	-0.7048	10	0.05721	T	0.95	-33.8952	16.6931	0.85327	0.0:1.0:0.0:0.0	.	233;325	O15034-2;O15034	.;RIMB2_HUMAN	E	325;233;233;233	ENSP00000261655:G325E;ENSP00000440347:G233E;ENSP00000439159:G233E	ENSP00000261655:G325E	G	-	2	0	RIMBP2	129492825	1.000000	0.71417	0.974000	0.42286	0.445000	0.32107	7.772000	0.85439	1.907000	0.55213	0.431000	0.28591	GGA	-	RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	0	0		92	92		0.00		C	NM_015347		130926872	-1	16		61		tier1	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	20.51		SNP	1.000	T	16	61
ST3GAL6	10402	genome.wustl.edu	37	3	98501056	98501056	+	Intron	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:98501056G>A	ENST00000483910.1	+	6	624				ST3GAL6_ENST00000468553.1_Missense_Mutation_p.R114K|ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000394162.1_Intron|ST3GAL6_ENST00000462152.1_Intron	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						TTTAGAAACAGAGAGCCCAGG	0.438													ENSG00000064225																																					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.336-2733G>A	3.37:g.98501056G>A			B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	NULL	p.R114K	ENST00000483910.1	37	c.341	CCDS2933.1	3	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607494	0.03717	.	.	ENSG00000064225	ENST00000468553	.	.	.	1.55	-3.1	0.05315	.	.	.	.	.	T	0.12347	0.0300	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26430	-1.0103	5	0.07990	T	0.79	.	2.9641	0.05902	0.3711:0.0:0.425:0.2039	.	.	.	.	K	114	.	ENSP00000420474:R114K	R	+	2	0	ST3GAL6	99983746	0.008000	0.16893	0.000000	0.03702	0.030000	0.12068	-1.298000	0.02756	-1.432000	0.01979	-0.482000	0.04802	AGA	-	ST3GAL6	-	NULL		0.438	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	0	0		43	43		0.00		G	NM_006100		98501056	+1	18		39		tier1	no_errors	ENST00000468553	ensembl	human	novel	74_37	missense	31.58		SNP	0.001	A	18	39
CACNA1A	773	genome.wustl.edu	37	19	13346467	13346467	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:13346467G>A	ENST00000360228.5	-	32	5027	c.5028C>T	c.(5026-5028)acC>acT	p.T1676T	CACNA1A_ENST00000573710.2_Silent_p.T1677T|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1677					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GAATGCGGATGGTGTAACCCT	0.567											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000141837																																					0													99.0	111.0	107.0					19																	13346467		2024	4185	6209	SO:0001819	synonymous_variant	0			-	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5028C>T	19.37:g.13346467G>A		686	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.T1676	ENST00000360228.5	37	c.5028	CCDS45998.1	19																																																																																			-	CAC1A	-	pfam_Ion_trans_dom		0.567	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CAC1A	HGNC	protein_coding	OTTHUMT00000104062.2	0	0		53	53		0.00		G	NM_000068		13346467	-1	35		54		tier1	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	39.33		SNP	1.000	A	35	54
PDGFRB	5159	genome.wustl.edu	37	5	149495421	149495421	+	Missense_Mutation	SNP	G	G	A	rs376730887		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:149495421G>A	ENST00000261799.4	-	23	3695	c.3226C>T	c.(3226-3228)Ctt>Ttt	p.L1076F	CSF1R_ENST00000286301.3_5'Flank	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1076					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAGCTCAAGCTGGGGCTCT	0.627			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								ENSG00000113721																												Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0								G	PHE/LEU	0,4404		0,0,2202	29.0	32.0	31.0		3226	3.2	0.0	5		31	1,8597	1.2+/-3.3	0,1,4298	no	missense	PDGFRB	NM_002609.3	22	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	1076/1107	149495421	1,13001	2202	4299	6501	SO:0001583	missense	0			-	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3226C>T	5.37:g.149495421G>A	ENSP00000261799:p.Leu1076Phe		B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L1076F	ENST00000261799.4	37	c.3226	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523814	0.44866	0.0	1.16E-4	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76060	-0.99	4.04	3.15	0.36227	.	0.510600	0.14544	U	0.313129	T	0.53351	0.1791	N	0.08118	0	0.09310	N	1	B;B	0.29085	0.077;0.232	B;B	0.24269	0.032;0.052	T	0.41305	-0.9516	10	0.32370	T	0.25	.	12.5093	0.55999	0.0:0.1676:0.8324:0.0	.	1076;1076	A8KAM8;P09619	.;PGFRB_HUMAN	F	1076;746	ENSP00000261799:L1076F	ENSP00000261799:L1076F	L	-	1	0	PDGFRB	149475614	0.690000	0.27699	0.026000	0.17262	0.301000	0.27625	2.141000	0.42168	1.022000	0.39626	0.462000	0.41574	CTT	-	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt		0.627	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	0	0		70	70		0.00		G	NM_002609		149495421	-1	32		80		tier1	no_errors	ENST00000261799	ensembl	human	known	74_37	missense	28.57		SNP	0.191	A	32	80
ALDOB	229	genome.wustl.edu	37	9	104190751	104190751	+	Splice_Site	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:104190751C>G	ENST00000374855.4	-	4	503	c.379G>C	c.(379-381)Ggg>Cgg	p.G127R	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	127					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ATATCCTTACCTTGAATGGTG	0.398													ENSG00000136872																																					0													278.0	237.0	251.0					9																	104190751		2203	4300	6503	SO:0001630	splice_region_variant	0			-	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.379+1G>C	9.37:g.104190751C>G			Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.G127R	ENST00000374855.4	37	c.379	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	C	31	5.082347	0.94050	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.90563	-2.69	5.87	5.87	0.94306	Aldolase-type TIM barrel (1);	0.044906	0.85682	D	0.000000	D	0.97155	0.9070	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97859	1.0279	9	.	.	.	-9.394	19.1987	0.93701	0.0:1.0:0.0:0.0	.	127	P05062	ALDOB_HUMAN	R	127;54;127	ENSP00000363988:G127R	.	G	-	1	0	ALDOB	103230572	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	GGG	-	ALDOB	-	pfam_Aldolase_I		0.398	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	0	0		44	44		0.00		C		Missense_Mutation	104190751	-1	8		32		tier1	no_errors	ENST00000374855	ensembl	human	known	74_37	missense	20.00		SNP	1.000	G	8	32
KIF9	64147	genome.wustl.edu	37	3	47281506	47281506	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47281506C>T	ENST00000265529.3	-	18	2605				KIF9_ENST00000352910.4_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_Intron|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000335044.2_Intron|KIF9_ENST00000452770.2_Intron			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)		aaatgcaggtcctgggccctg	0.537													ENSG00000227398																									Colon(44;962 1147 15977 24541)												0																																										SO:0001627	intron_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.1924+784G>A	3.37:g.47281506C>T			Q86Z28|Q9H8A4	R	SNP	-	NULL	ENST00000265529.3	37	NULL	CCDS2752.1	3																																																																																			-	KIF9-AS1	-	-		0.537	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9-AS1	HGNC	protein_coding	OTTHUMT00000257475.2	0	0		44	44		0.00		C			47281506	+1	27		37		tier1	no_errors	ENST00000429315	ensembl	human	known	74_37	rna	42.19		SNP	0.000	T	27	37
BPTF	2186	genome.wustl.edu	37	17	65940483	65940483	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:65940483C>T	ENST00000321892.4	+	22	7134	c.7073C>T	c.(7072-7074)gCa>gTa	p.A2358V	BPTF_ENST00000335221.5_Missense_Mutation_p.A2358V|BPTF_ENST00000424123.3_Missense_Mutation_p.A2219V|BPTF_ENST00000306378.6_Missense_Mutation_p.A2232V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2358	Thr-rich.				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)			TCCACGACAGCAGCAGGTAGA	0.512													ENSG00000171634																																					0													67.0	59.0	62.0					17																	65940483		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.7073C>T	17.37:g.65940483C>T	ENSP00000315454:p.Ala2358Val		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.A2358V	ENST00000321892.4	37	c.7073		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.51|13.51	2.257325|2.257325	0.39896|0.39896	.|.	.|.	ENSG00000171634|ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892|ENST00000424123	T;T;T|.	0.62498|.	0.02;0.04;0.06|.	5.4|5.4	4.43|4.43	0.53597|0.53597	.|.	.|.	.|.	.|.	.|.	T|.	0.37544|.	0.1007|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999992|0.999992	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.09377|.	0.001;0.004;0.004|.	T|.	0.21518|.	-1.0243|.	9|.	0.56958|0.21014	D|T	0.05|0.42	-2.4017|-2.4017	14.7153|14.7153	0.69262|0.69262	0.0:0.9299:0.0:0.0701|0.0:0.9299:0.0:0.0701	.|.	36;2232;2358|.	B4DJV8;Q12830-2;Q12830-4|.	.;.;.|.	V|X	2232;2358;2358|30	ENSP00000307208:A2232V;ENSP00000334351:A2358V;ENSP00000315454:A2358V|.	ENSP00000307208:A2232V|ENSP00000388405:Q30X	A|Q	+|+	2|1	0|0	BPTF|BPTF	63370945|63370945	0.997000|0.997000	0.39634|0.39634	0.970000|0.970000	0.41538|0.41538	0.833000|0.833000	0.47200|0.47200	3.400000|3.400000	0.52594|0.52594	1.406000|1.406000	0.46857|0.46857	0.655000|0.655000	0.94253|0.94253	GCA|CAG	-	BPTF	-	NULL		0.512	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		0	0		33	33		0.00		C	NM_182641, NM_004459		65940483	+1	9		20		tier1	no_errors	ENST00000321892	ensembl	human	known	74_37	missense	31.03		SNP	0.974	T	9	20
DNAH8	1769	genome.wustl.edu	37	6	38835890	38835890	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:38835890G>A	ENST00000359357.3	+	46	6349	c.6095G>A	c.(6094-6096)gGa>gAa	p.G2032E	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2249E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1996E			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2032					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGACTCTTGGATCTCAAAAA	0.363													ENSG00000124721																																					0													132.0	128.0	130.0					6																	38835890		2203	4300	6503	SO:0001583	missense	0			-	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6095G>A	6.37:g.38835890G>A	ENSP00000352312:p.Gly2032Glu		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	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.G2032E	ENST00000359357.3	37	c.6095		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.287259|5.287259	0.95517|0.95517	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000394393|ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.|T;T;T;T	.|0.49139	.|0.79;2.29;2.29;1.07	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75796|0.75796	0.3898|0.3898	M|M	0.93808|0.93808	3.46|3.46	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.81189|0.81189	-0.1046|-0.1046	5|10	.|0.87932	.|D	.|0	.|.	20.2699|20.2699	0.98469|0.98469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2032	.|Q96JB1	.|DYH8_HUMAN	N|E	78|2237;2237;2032;1996	.|ENSP00000415331:G2237E;ENSP00000333363:G2237E;ENSP00000352312:G2032E;ENSP00000402294:G1996E	.|ENSP00000333363:G2237E	D|G	+|+	1|2	0|0	DNAH8|DNAH8	38943868|38943868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.775000|9.775000	0.98995|0.98995	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAT|GGA	-	DH8	-	superfamily_P-loop_NTPase		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DH8	HGNC	protein_coding	OTTHUMT00000043574.1	0	0		115	115		0.00		G	NM_001206927		38835890	+1	15		75		tier1	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	16.67		SNP	1.000	A	15	75
HECW2	57520	genome.wustl.edu	37	2	197122601	197122601	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:197122601C>T	ENST00000260983.3	-	18	3547	c.3365G>A	c.(3364-3366)gGg>gAg	p.G1122E	AC020571.3_ENST00000430904.1_RNA|AC020571.3_ENST00000433933.1_RNA|AC020571.3_ENST00000605907.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.G766E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1122					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCTGGAGTCCCTTCAGTTCG	0.423													ENSG00000138411																																					0													123.0	104.0	110.0					2																	197122601		2203	4300	6503	SO:0001583	missense	0			-	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3365G>A	2.37:g.197122601C>T	ENSP00000260983:p.Gly1122Glu		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.G1122E	ENST00000260983.3	37	c.3365	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.064455	0.93898	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85484	-1.99;-1.99	5.55	5.55	0.83447	.	0.113552	0.64402	D	0.000011	D	0.92014	0.7470	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92299	0.5848	10	0.87932	D	0	.	16.5241	0.84326	0.0:1.0:0.0:0.0	.	1122	Q9P2P5	HECW2_HUMAN	E	766;1122	ENSP00000386775:G766E;ENSP00000260983:G1122E	ENSP00000260983:G1122E	G	-	2	0	HECW2	196830846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.857000	0.75455	2.890000	0.99128	0.585000	0.79938	GGG	-	HECW2	-	NULL		0.423	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	0	0		61	61		0.00		C	NM_020760		197122601	-1	8		33		tier1	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	19.51		SNP	1.000	T	8	33
CECR2	27443	genome.wustl.edu	37	22	17978523	17978523	+	Missense_Mutation	SNP	C	C	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:17978523C>G	ENST00000400573.5	+	4	428	c.421C>G	c.(421-423)Cga>Gga	p.R141G	CECR2_ENST00000262608.8_Missense_Mutation_p.R122G|CECR2_ENST00000342247.5_Missense_Mutation_p.R121G|CECR2_ENST00000400585.2_5'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	163					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTATGGAACACGAATGTACAA	0.458													ENSG00000099954																																					0													77.0	74.0	75.0					22																	17978523		1861	4103	5964	SO:0001583	missense	0			-	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.421C>G	22.37:g.17978523C>G	ENSP00000383417:p.Arg141Gly		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R141G	ENST00000400573.5	37	c.421		22	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555987	0.86231	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.53857	0.6;0.6;0.6	5.74	5.74	0.90152	.	0.000000	0.31071	U	0.008315	T	0.77558	0.4148	M	0.85630	2.765	0.51012	D	0.999906	D	0.89917	1.0	D	0.85130	0.997	T	0.80271	-0.1452	10	0.87932	D	0	-8.6768	19.9332	0.97128	0.0:1.0:0.0:0.0	.	163	Q9BXF3	CECR2_HUMAN	G	121;141;122	ENSP00000341219:R121G;ENSP00000383417:R141G;ENSP00000262608:R122G	ENSP00000262608:R122G	R	+	1	2	CECR2	16358523	0.997000	0.39634	0.988000	0.46212	0.997000	0.91878	3.630000	0.54273	2.702000	0.92279	0.655000	0.94253	CGA	-	CECR2	-	NULL		0.458	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316104.5	0	0		62	62		0.00		C	NM_031413		17978523	+1	27		58		tier1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	31.76		SNP	0.997	G	27	58
BST1	683	genome.wustl.edu	37	4	15716984	15716984	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:15716984G>A	ENST00000265016.4	+	5	806	c.611G>A	c.(610-612)gGt>gAt	p.G204D	BST1_ENST00000382346.3_Splice_Site_p.G219D	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	204					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CCCATCAAAGGGTAAGAACAC	0.388													ENSG00000109743																																					0													104.0	97.0	99.0					4																	15716984		2203	4300	6503	SO:0001630	splice_region_variant	0			-	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.611+1G>A	4.37:g.15716984G>A			B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.G204D	ENST00000265016.4	37	c.611	CCDS3416.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.389121|4.389121	0.82902|0.82902	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000514445|ENST00000505785;ENST00000514989	T;T;T|.	0.15139|.	2.45;2.45;2.45|.	6.16|6.16	6.16|6.16	0.99307|0.99307	NAD(P)-binding domain (1);|.	0.049240|.	0.85682|.	D|.	0.000000|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.67953|0.67953	2.075|2.075	0.47949|0.47949	D|D	0.999551|0.999551	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.976|.	T|T	0.70995|0.70995	-0.4720|-0.4720	10|5	0.48119|.	T|.	0.1|.	-13.6785|-13.6785	16.3599|16.3599	0.83257|0.83257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	219;204|.	A6NC48;Q10588|.	.;BST1_HUMAN|.	D|I	204;219;54|100;12	ENSP00000265016:G204D;ENSP00000371783:G219D;ENSP00000420925:G54D|.	ENSP00000265016:G204D|.	G|V	+|+	2|1	0|0	BST1|BST1	15326082|15326082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	5.218000|5.218000	0.65257|0.65257	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|GTT	-	BST1	-	pfam_ADP-ribosyl_cyclase		0.388	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BST1	HGNC	protein_coding	OTTHUMT00000214968.2	0	0		83	83		0.00		G	NM_004334	Missense_Mutation	15716984	+1	42		61		tier1	no_errors	ENST00000265016	ensembl	human	known	74_37	missense	40.78		SNP	1.000	A	42	61
ZGRF1	55345	genome.wustl.edu	37	4	113479385	113479385	+	Missense_Mutation	SNP	G	G	A	rs141009919	byFrequency	TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:113479385G>A	ENST00000505019.1	-	20	5166	c.5041C>T	c.(5041-5043)Ccc>Tcc	p.P1681S		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1681						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CCAATGGTGGGAGCTTCACTC	0.408													ENSG00000138658																																					0								G	SER/PRO	11,4395	16.8+/-37.8	0,11,2192	111.0	115.0	114.0		5041	0.9	0.0	4	dbSNP_134	114	0,8600		0,0,4300	yes	missense	C4orf21	NM_018392.4	74	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	benign	1681/2105	113479385	11,12995	2203	4300	6503	SO:0001583	missense	0			-																												ENST00000505019.1:c.5041C>T	4.37:g.113479385G>A	ENSP00000424737:p.Pro1681Ser		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.P1681S	ENST00000505019.1	37	c.5041		4	.	.	.	.	.	.	.	.	.	.	G	3.333	-0.136263	0.06711	0.002497	0.0	ENSG00000138658	ENST00000505019	D	0.81499	-1.5	5.89	0.862	0.19056	.	1.319920	0.05205	N	0.505653	T	0.66557	0.2801	L	0.28556	0.865	0.09310	N	1	B;B	0.15719	0.014;0.013	B;B	0.11329	0.006;0.005	T	0.43734	-0.9373	10	0.10902	T	0.67	0.1128	4.0579	0.09824	0.138:0.386:0.339:0.137	.	1681;139	G5EA02;B3KQX2	.;.	S	1681	ENSP00000424737:P1681S	ENSP00000404365:P579S	P	-	1	0	C4orf21	113698834	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	0.000000	0.12993	-0.158000	0.11040	0.650000	0.86243	CCC	rs141009919	C4orf21	-	superfamily_P-loop_NTPase		0.408	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	0	0		72	72		0.00		G			113479385	-1	27		64		tier1	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	29.67		SNP	0.000	A	27	64
PCDHB8	56128	genome.wustl.edu	37	5	140558546	140558546	+	Missense_Mutation	SNP	G	G	A	rs148140727		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140558546G>A	ENST00000239444.2	+	1	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	311	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)	p.E311K(2)		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)			ACTTGATTTCGAAAAATTTCA	0.383													ENSG00000120322																																					2	Substitution - Missense(2)	skin(2)											125.0	185.0	164.0					5																	140558546		2203	4300	6503	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.931G>A	5.37:g.140558546G>A	ENSP00000239444:p.Glu311Lys		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E311K	ENST00000239444.2	37	c.931	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054051	0.55218	.	.	ENSG00000120322	ENST00000239444	T	0.72394	-0.65	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88980	0.6585	H	0.96048	3.76	0.45747	D	0.998641	D	0.89917	1.0	D	0.97110	1.0	D	0.92966	0.6393	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	311	Q9UN66	PCDB8_HUMAN	K	311	ENSP00000239444:E311K	ENSP00000239444:E311K	E	+	1	0	PCDHB8	140538730	1.000000	0.71417	0.813000	0.32504	0.035000	0.12851	6.377000	0.73145	1.911000	0.55334	0.585000	0.79938	GAA	rs148140727	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	1	1		107	107		0.93		G	NM_019120		140558546	+1	16		113		tier1	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	12.40		SNP	1.000	A	16	113
THRAP3	9967	genome.wustl.edu	37	1	36752123	36752123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:36752123C>T	ENST00000354618.5	+	4	516	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.Q98*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	98	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCATGGGGCCAATATAACCG	0.502			T	USP6	aneurysmal bone cysts								ENSG00000054118																									Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													96.0	97.0	96.0					1																	36752123		2203	4300	6503	SO:0001587	stop_gained	0			-	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.292C>T	1.37:g.36752123C>T	ENSP00000346634:p.Gln98*		D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	NULL	p.Q98*	ENST00000354618.5	37	c.292	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.536236	0.96460	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-16.514	18.7693	0.91885	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000346634:Q98X	Q	+	1	0	THRAP3	36524710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.118000	0.57884	2.746000	0.94184	0.655000	0.94253	CAA	-	THRAP3	-	NULL		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	0	0		63	63		0.00		C	NM_005119		36752123	+1	24		59		tier1	no_errors	ENST00000354618	ensembl	human	known	74_37	nonsense	28.92		SNP	1.000	T	24	59
MYH15	22989	genome.wustl.edu	37	3	108107885	108107885	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:108107885G>A	ENST00000273353.3	-	39	5583	c.5527C>T	c.(5527-5529)Cgt>Tgt	p.R1843C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1843						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1843C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCACTGCGACGGATTTCACCC	0.537													ENSG00000144821																																					1	Substitution - Missense(1)	skin(1)											115.0	120.0	119.0					3																	108107885		2058	4204	6262	SO:0001583	missense	0			-	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5527C>T	3.37:g.108107885G>A	ENSP00000273353:p.Arg1843Cys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_D-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R1843C	ENST00000273353.3	37	c.5527	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322325	0.81580	.	.	ENSG00000144821	ENST00000273353	D	0.84070	-1.8	5.75	-2.86	0.05717	Myosin tail (1);	.	.	.	.	D	0.89458	0.6721	M	0.89715	3.055	0.19300	N	0.999973	D	0.76494	0.999	D	0.67900	0.954	T	0.79727	-0.1682	9	0.87932	D	0	.	5.7345	0.18059	0.3014:0.0:0.5187:0.1798	.	1843	Q9Y2K3	MYH15_HUMAN	C	1843	ENSP00000273353:R1843C	ENSP00000273353:R1843C	R	-	1	0	MYH15	109590575	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	0.093000	0.15086	-0.151000	0.11176	-0.140000	0.14226	CGT	-	MYH15	-	pfam_Myosin_tail		0.537	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	0	0		29	29		0.00		G	XM_036988		108107885	-1	25		43		tier1	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	35.71		SNP	0.000	A	25	43
C12orf40	283461	genome.wustl.edu	37	12	40076480	40076480	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:40076480G>A	ENST00000324616.5	+	8	908	c.754G>A	c.(754-756)Gat>Aat	p.D252N	C12orf40_ENST00000398716.1_Missense_Mutation_p.D175N|C12orf40_ENST00000405531.3_Missense_Mutation_p.D252N	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	252										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAGAAGCACGGATGAAATAAG	0.328													ENSG00000180116																																					0													123.0	124.0	124.0					12																	40076480		1830	4090	5920	SO:0001583	missense	0			-	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.754G>A	12.37:g.40076480G>A	ENSP00000317671:p.Asp252Asn		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.D252N	ENST00000324616.5	37	c.754	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.450755	0.01080	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.44881	0.91;0.92	5.36	-7.17	0.01511	.	1.097670	0.06972	N	0.818319	T	0.22513	0.0543	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	10	0.10636	T	0.68	.	12.1096	0.53831	0.7725:0.0:0.1238:0.1038	.	252	Q86WS4	CL040_HUMAN	N	252;175;252	ENSP00000383897:D252N;ENSP00000317671:D252N	ENSP00000317671:D252N	D	+	1	0	C12orf40	38362747	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-1.158000	0.03153	-1.429000	0.01987	-0.216000	0.12614	GAT	-	C12orf40	-	NULL		0.328	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	0	0		99	99		0.00		G	NM_173599		40076480	+1	21		93		tier1	no_errors	ENST00000324616	ensembl	human	known	74_37	missense	18.42		SNP	0.000	A	21	93
FMNL1	752	genome.wustl.edu	37	17	43320530	43320530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:43320530C>T	ENST00000331495.3	+	17	2392	c.2056C>T	c.(2056-2058)Caa>Taa	p.Q686*	FMNL1_ENST00000587489.1_Nonsense_Mutation_p.Q264*|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Nonsense_Mutation_p.Q686*|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	686	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GACCAAGTCCCAAGGCCCCAG	0.602													ENSG00000184922																									GBM(164;1247 1997 8702 11086 51972)												0													97.0	103.0	101.0					17																	43320530		2203	4300	6503	SO:0001587	stop_gained	0			-	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2056C>T	17.37:g.43320530C>T	ENSP00000329219:p.Gln686*		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Nonsense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.Q686*	ENST00000331495.3	37	c.2056	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	c	41	8.532884	0.98852	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	.	.	.	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.8088	0.78538	0.0:1.0:0.0:0.0	.	.	.	.	X	686;686;341	.	ENSP00000327442:Q686X	Q	+	1	0	FMNL1	40676313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.607000	0.82883	2.368000	0.80403	0.450000	0.29827	CAA	-	FMNL1	-	pfam_FH2_Formin,smart_FH2_Formin		0.602	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	0	0		59	59		0.00		C	NM_005892		43320530	+1	24		63		tier1	no_errors	ENST00000328118	ensembl	human	known	74_37	nonsense	27.27		SNP	1.000	T	24	63
DACT1	51339	genome.wustl.edu	37	14	59113234	59113234	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:59113234G>A	ENST00000335867.4	+	4	1917	c.1893G>A	c.(1891-1893)ggG>ggA	p.G631G	DACT1_ENST00000541264.2_Silent_p.G350G|DACT1_ENST00000395153.3_Silent_p.G594G|DACT1_ENST00000556859.1_Silent_p.G350G			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	631					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCTCCAAGGGGAGGAAGAGTG	0.672													ENSG00000165617																																					0													10.0	12.0	11.0					14																	59113234		2163	4254	6417	SO:0001819	synonymous_variant	0			-	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1893G>A	14.37:g.59113234G>A			A8MYJ2|Q86TY0	Silent	SNP	NULL	p.G631	ENST00000335867.4	37	c.1893	CCDS9736.1	14																																																																																			-	DACT1	-	NULL		0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	0	0		110	110		0.00		G	NM_016651		59113234	+1	48		49		tier1	no_errors	ENST00000335867	ensembl	human	known	74_37	silent	49.48		SNP	0.002	A	48	49
AGAP2	116986	genome.wustl.edu	37	12	58127883	58127883	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:58127883C>T	ENST00000547588.1	-	5	1474	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	AGAP2_ENST00000257897.3_Missense_Mutation_p.R156H	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	492	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCCATGGAGACGGCTCACAGC	0.597													ENSG00000135439																																					0													63.0	52.0	56.0					12																	58127883		2203	4300	6503	SO:0001583	missense	0			-	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1475G>A	12.37:g.58127883C>T	ENSP00000449241:p.Arg492His		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.R492H	ENST00000547588.1	37	c.1475	CCDS44932.1	12	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934360	0.34096	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.22945	1.93;1.93	5.43	2.56	0.30785	Mitochondrial Rho-like (1);	0.401538	0.26092	N	0.026393	T	0.10423	0.0255	N	0.04705	-0.18	0.28783	N	0.899722	B;B;B	0.22414	0.069;0.019;0.024	B;B;B	0.22152	0.011;0.022;0.038	T	0.25328	-1.0135	10	0.18710	T	0.47	.	7.1402	0.25552	0.0:0.6588:0.0:0.3412	.	156;492;492	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	H	156;492	ENSP00000257897:R156H;ENSP00000449241:R492H	ENSP00000257897:R156H	R	-	2	0	AGAP2	56414150	0.285000	0.24296	1.000000	0.80357	0.959000	0.62525	2.573000	0.46007	0.766000	0.33244	0.561000	0.74099	CGT	-	AGAP2	-	pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.597	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	HGNC	protein_coding	OTTHUMT00000408367.1	0	0		55	55		0.00		C	NM_014770		58127883	-1	28		33		tier1	no_errors	ENST00000547588	ensembl	human	known	74_37	missense	45.90		SNP	0.995	T	28	33
SCAF8	22828	genome.wustl.edu	37	6	155154371	155154371	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:155154371G>A	ENST00000367178.3	+	20	4234	c.3658G>A	c.(3658-3660)Gag>Aag	p.E1220K	SCAF8_ENST00000367186.4_Missense_Mutation_p.E1286K|SCAF8_ENST00000417268.1_Missense_Mutation_p.E1220K|TIAM2_ENST00000461783.3_5'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1220					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TGAAAATACAGAGAGACATGC	0.418													ENSG00000213079																																					0													80.0	78.0	79.0					6																	155154371		2203	4300	6503	SO:0001583	missense	0			-	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3658G>A	6.37:g.155154371G>A	ENSP00000356146:p.Glu1220Lys		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.E1286K	ENST00000367178.3	37	c.3856	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580753	0.65992	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.50548	0.78;0.78;0.74	5.62	5.62	0.85841	.	0.297385	0.27331	U	0.019860	T	0.52533	0.1740	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.73380	0.98;0.98;0.98	T	0.57470	-0.7806	10	0.87932	D	0	.	19.6445	0.95771	0.0:0.0:1.0:0.0	.	1265;1286;1220	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	K	1220;1220;1286;181	ENSP00000356146:E1220K;ENSP00000413098:E1220K;ENSP00000356154:E1286K	ENSP00000356146:E1220K	E	+	1	0	TIAM2;SCAF8	155196063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.544000	0.82117	2.646000	0.89796	0.655000	0.94253	GAG	-	SCAF8	-	NULL		0.418	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	0	0		19	19		0.00		G	NM_014892		155154371	+1	9		19		tier1	no_errors	ENST00000367186	ensembl	human	known	74_37	missense	32.14		SNP	1.000	A	9	19
PTPN21	11099	genome.wustl.edu	37	14	88974314	88974314	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:88974314G>A	ENST00000556564.1	-	4	685	c.401C>T	c.(400-402)cCt>cTt	p.P134L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.P134L|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	134	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						TAAGGTACAAGGAATACTTCC	0.318													ENSG00000070778																																					0													93.0	88.0	90.0					14																	88974314		2202	4296	6498	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.401C>T	14.37:g.88974314G>A	ENSP00000452414:p.Pro134Leu			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.P134L	ENST00000556564.1	37	c.401	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657305	0.29425	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.78595	-1.19;-1.19;-1.19	5.25	5.25	0.73442	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.147225	0.47852	D	0.000209	T	0.80793	0.4691	L	0.41079	1.255	0.80722	D	1	B;P	0.51653	0.002;0.947	B;P	0.54210	0.004;0.745	T	0.82149	-0.0600	10	0.56958	D	0.05	.	18.8511	0.92230	0.0:0.0:1.0:0.0	.	134;134	G3V3S6;Q16825	.;PTN21_HUMAN	L	134	ENSP00000330276:P134L;ENSP00000452414:P134L;ENSP00000451401:P134L	ENSP00000330276:P134L	P	-	2	0	PTPN21	88044067	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.828000	0.99408	2.442000	0.82660	0.591000	0.81541	CCT	-	PTPN21	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,prints_Band_41_fam		0.318	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	0	0		25	25		0.00		G			88974314	-1	14		7		tier1	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	66.67		SNP	1.000	A	14	7
CRHR2	1395	genome.wustl.edu	37	7	30728566	30728566	+	5'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:30728566G>A	ENST00000462882.1	-	0	338				CRHR2_ENST00000341843.4_5'Flank|CRHR2_ENST00000348438.4_Intron			Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATCGTGGGAGCTGGGAATGG	0.582													ENSG00000106113																																					0																																										SO:0001623	5_prime_UTR_variant	0			-		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000462882.1:c.-345C>T	7.37:g.30728566G>A			B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	R	SNP	-	NULL	ENST00000462882.1	37	NULL		7																																																																																			-	CRHR2	-	-		0.582	CRHR2-004	KNOWN	basic	processed_transcript	CRHR2	HGNC	protein_coding	OTTHUMT00000327787.1	0	0		34	34		0.00		G			30728566	-1	7		53		tier1	no_errors	ENST00000462882	ensembl	human	known	74_37	rna	11.67		SNP	0.000	A	7	53
DZIP1L	199221	genome.wustl.edu	37	3	137790632	137790632	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:137790632G>A	ENST00000327532.2	-	12	1830	c.1468C>T	c.(1468-1470)Ctg>Ttg	p.L490L	DZIP1L_ENST00000469243.1_Silent_p.L490L|DZIP1L_ENST00000488595.1_Intron	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	490					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						ACTCTCAGCAGGGATTCCAGG	0.522													ENSG00000158163																																					0													48.0	50.0	49.0					3																	137790632		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1468C>T	3.37:g.137790632G>A			C9JUG5|Q96M38	Silent	SNP	pfscan_Znf_C2H2	p.L490	ENST00000327532.2	37	c.1468	CCDS3096.1	3																																																																																			-	DZIP1L	-	NULL		0.522	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	0	0		34	34		0.00		G	NM_173543		137790632	-1	15		22		tier1	no_errors	ENST00000327532	ensembl	human	known	74_37	silent	40.54		SNP	0.000	A	15	22
CAPN11	11131	genome.wustl.edu	37	6	44137153	44137153	+	Missense_Mutation	SNP	G	G	A	rs190216536|rs70993433		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:44137153G>A	ENST00000398776.1	+	3	262	c.224G>A	c.(223-225)aGa>aAa	p.R75K	CAPN11_ENST00000542245.1_Missense_Mutation_p.R75K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	75					proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCTGTCTAAGAAAGGGGGAG	0.567													ENSG00000137225																																					0													34.0	37.0	36.0					6																	44137153		1888	4129	6017	SO:0001583	missense	0			GMAF=0.0005	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.224G>A	6.37:g.44137153G>A	ENSP00000381758:p.Arg75Lys		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R75K	ENST00000398776.1	37	c.224	CCDS47436.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.278	0.608559	0.14002	.	.	ENSG00000137225	ENST00000398776;ENST00000542245;ENST00000532171	T;T;T	0.49432	0.78;0.78;0.78	4.1	-0.0274	0.13927	Peptidase C2, calpain, catalytic domain (1);	0.672928	0.13610	N	0.375174	T	0.11410	0.0278	N	0.21282	0.65	0.19945	N	0.999948	B	0.06786	0.001	B	0.04013	0.001	T	0.27806	-1.0063	10	0.36615	T	0.2	.	5.2688	0.15613	0.546:0.1611:0.2929:0.0	.	75	Q9UMQ6	CAN11_HUMAN	K	75;75;105	ENSP00000381758:R75K;ENSP00000441078:R75K;ENSP00000432420:R105K	ENSP00000381758:R75K	R	+	2	0	CAPN11	44245131	0.936000	0.31750	0.010000	0.14722	0.052000	0.14988	0.824000	0.27379	-0.021000	0.14009	-0.145000	0.13849	AGA	rs190216536	CAPN11	-	smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.567	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3	0	0		42	42		0.00		G			44137153	+1	13		43		tier1	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	23.21		SNP	0.405	A	13	43
LTBP1	4052	genome.wustl.edu	37	2	33335687	33335687	+	Missense_Mutation	SNP	A	A	T	rs557403804		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:33335687A>T	ENST00000404816.2	+	4	1255	c.902A>T	c.(901-903)cAt>cTt	p.H301L	LTBP1_ENST00000354476.3_Missense_Mutation_p.H301L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	301					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGATTCACCATGGCCAGACC	0.433													ENSG00000049323																																					0													115.0	117.0	117.0					2																	33335687		2203	4300	6503	SO:0001583	missense	0			-		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.902A>T	2.37:g.33335687A>T	ENSP00000386043:p.His301Leu		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.H301L	ENST00000404816.2	37	c.902	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	A	6.947	0.544637	0.13312	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80304	-1.36;-1.34	5.51	-2.58	0.06228	.	.	.	.	.	T	0.68531	0.3011	L	0.36672	1.1	0.80722	D	1	B	0.24043	0.096	B	0.26770	0.073	T	0.51482	-0.8700	9	0.26408	T	0.33	.	11.2158	0.48825	0.5802:0.0:0.4198:0.0	.	301	Q14766-4	.	L	301	ENSP00000386043:H301L;ENSP00000346467:H301L	ENSP00000346467:H301L	H	+	2	0	LTBP1	33189191	0.039000	0.19947	0.901000	0.35422	0.017000	0.09413	0.196000	0.17176	-0.462000	0.06984	-1.266000	0.01441	CAT	-	LTBP1	-	NULL		0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	0	0		55	55		0.00		A	NM_206943		33335687	+1	13		57		tier1	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	18.57		SNP	0.990	T	13	57
GLI1	2735	genome.wustl.edu	37	12	57859445	57859445	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:57859445G>A	ENST00000228682.2	+	6	681	c.590G>A	c.(589-591)gGt>gAt	p.G197D	GLI1_ENST00000546141.1_Missense_Mutation_p.G156D|GLI1_ENST00000543426.1_Missense_Mutation_p.G69D	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	197					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCTTGGAAGGTGATATGTCC	0.557													ENSG00000111087																									Pancreas(157;841 1936 10503 41495 50368)												0													81.0	70.0	74.0					12																	57859445		2203	4300	6503	SO:0001583	missense	0			-		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.590G>A	12.37:g.57859445G>A	ENSP00000228682:p.Gly197Asp		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G197D	ENST00000228682.2	37	c.590	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095406	0.56075	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.74106	-0.81;2.68;2.6;2.67;2.67	4.2	4.2	0.49525	.	0.000000	0.52532	D	0.000080	T	0.66867	0.2833	L	0.48642	1.525	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.62258	-0.6892	10	0.19147	T	0.46	.	15.826	0.78706	0.0:0.0:1.0:0.0	.	197	P08151	GLI1_HUMAN	D	69;69;197;156;156;69	ENSP00000436671:G69D;ENSP00000437607:G69D;ENSP00000228682:G197D;ENSP00000441006:G156D;ENSP00000434408:G156D	ENSP00000228682:G197D	G	+	2	0	GLI1	56145712	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.385000	0.73182	2.344000	0.79699	0.591000	0.81541	GGT	-	GLI1	-	NULL		0.557	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	0	0		28	28		0.00		G	NM_005269		57859445	+1	22		26		tier1	no_errors	ENST00000228682	ensembl	human	known	74_37	missense	45.83		SNP	1.000	A	22	26
NEGR1	257194	genome.wustl.edu	37	1	72163699	72163699	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:72163699A>G	ENST00000357731.5	-	4	898	c.659T>C	c.(658-660)gTt>gCt	p.V220A	NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.V92A	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	220	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACAGTTGACAACAACTTTTAC	0.353													ENSG00000172260																																					0													117.0	108.0	111.0					1																	72163699		2202	4300	6502	SO:0001583	missense	0			-	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.659T>C	1.37:g.72163699A>G	ENSP00000350364:p.Val220Ala		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V220A	ENST00000357731.5	37	c.659	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213054	0.39102	.	.	ENSG00000172260	ENST00000357731;ENST00000306821	T;T	0.54866	0.55;0.71	5.58	4.47	0.54385	Immunoglobulin-like (1);	0.236115	0.41194	D	0.000924	T	0.21921	0.0528	L	0.29908	0.895	0.80722	D	1	B	0.25206	0.12	B	0.29524	0.103	T	0.16512	-1.0400	10	0.39692	T	0.17	-7.5873	4.8676	0.13616	0.7321:0.0:0.2679:0.0	.	220	Q7Z3B1	NEGR1_HUMAN	A	220;92	ENSP00000350364:V220A;ENSP00000305938:V92A	ENSP00000305938:V92A	V	-	2	0	NEGR1	71936287	1.000000	0.71417	0.964000	0.40570	0.096000	0.18686	3.407000	0.52644	2.127000	0.65507	0.482000	0.46254	GTT	-	NEGR1	-	smart_Ig_sub,pfscan_Ig-like_dom		0.353	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	0	0		89	89		0.00		A	NM_173808		72163699	-1	37		47		tier1	no_errors	ENST00000357731	ensembl	human	known	74_37	missense	44.05		SNP	1.000	G	37	47
DNHD1	144132	genome.wustl.edu	37	11	6591239	6591239	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6591239G>A	ENST00000527990.2	+	38	12864	c.12864G>A	c.(12862-12864)tgG>tgA	p.W4288*	DNHD1_ENST00000254579.6_Splice_Site_p.W4288*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4288					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTTCTCTAGGAGTCAAGTGA	0.522													ENSG00000179532																																					0													75.0	73.0	74.0					11																	6591239		1928	4143	6071	SO:0001630	splice_region_variant	0			-	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.12864-1G>A	11.37:g.6591239G>A			Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SRE	p.W4288*	ENST00000527990.2	37	c.12864	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	55	24.964477	0.99963	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	.	.	.	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.473	0.61292	0.0:0.0:1.0:0.0	.	.	.	.	X	4288;4288;556;556	.	.	W	+	3	0	DNHD1	6547815	1.000000	0.71417	0.994000	0.49952	0.511000	0.34104	4.520000	0.60524	2.557000	0.86248	0.655000	0.94253	TGG	-	DNHD1	-	pfam_Dynein_heavy_dom		0.522	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	0	0		56	56		0.00		G	NM_144666	Nonsense_Mutation	6591239	+1	21		41		tier1	no_errors	ENST00000254579	ensembl	human	known	74_37	nonsense	33.87		SNP	0.999	A	21	41
C3P1	388503	genome.wustl.edu	37	19	10163019	10163019	+	RNA	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:10163019G>A	ENST00000495140.1	+	0	1453							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						GCATCGTCCTGGAACCCCAAG	0.517													ENSG00000167798																																					0													80.0	74.0	76.0					19																	10163019		1980	4184	6164			0			-	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10163019G>A				R	SNP	-	NULL	ENST00000495140.1	37	NULL		19																																																																																			-	C3P1	-	-		0.517	C3P1-002	KNOWN	basic	processed_transcript	C3P1	HGNC	pseudogene	OTTHUMT00000351284.1	0	0		42	42		0.00		G	NR_027300		10163019	+1	16		26		tier1	no_errors	ENST00000495140	ensembl	human	known	74_37	rna	38.10		SNP	0.184	A	16	26
NFAT5	10725	genome.wustl.edu	37	16	69726553	69726553	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:69726553G>T	ENST00000354436.2	+	12	3089	c.2771G>T	c.(2770-2772)gGa>gTa	p.G924V	NFAT5_ENST00000432919.1_Missense_Mutation_p.G942V|NFAT5_ENST00000567239.1_Missense_Mutation_p.G941V|NFAT5_ENST00000393742.2_Missense_Mutation_p.G848V|NFAT5_ENST00000349945.1_Missense_Mutation_p.G848V|NFAT5_ENST00000566899.1_Missense_Mutation_p.G848V	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	924					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCAGCAAATGGAAACCTTCAG	0.453													ENSG00000102908																																					0													98.0	90.0	93.0					16																	69726553		2198	4300	6498	SO:0001583	missense	0			-	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2771G>T	16.37:g.69726553G>T	ENSP00000346420:p.Gly924Val		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.G942V	ENST00000354436.2	37	c.2825	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495978	0.44352	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.58210	0.36;0.35;0.35;0.35	5.49	5.49	0.81192	.	0.387908	0.29034	N	0.013353	T	0.58133	0.2101	L	0.54323	1.7	0.80722	D	1	D;D;D	0.60575	0.988;0.987;0.987	P;P;P	0.51016	0.534;0.656;0.656	T	0.56177	-0.8022	10	0.39692	T	0.17	-1.9062	15.2495	0.73532	0.0:0.1399:0.8601:0.0	.	941;924;942	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	V	942;941;848;924;848	ENSP00000396538:G942V;ENSP00000338806:G848V;ENSP00000346420:G924V;ENSP00000377343:G848V	ENSP00000338806:G848V	G	+	2	0	NFAT5	68284054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.151000	0.58105	2.734000	0.93682	0.655000	0.94253	GGA	-	NFAT5	-	NULL		0.453	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	0	0		44	44		0.00		G	NM_138714		69726553	+1	4		46		tier1	no_errors	ENST00000432919	ensembl	human	known	74_37	missense	8.00		SNP	1.000	T	4	46
C14orf93	60686	genome.wustl.edu	37	14	23467848	23467848	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:23467848C>T	ENST00000299088.6	-	2	814	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	C14orf93_ENST00000397379.3_Missense_Mutation_p.E129K|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000341470.4_Missense_Mutation_p.E129K|C14orf93_ENST00000397382.4_Missense_Mutation_p.E129K|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.E129K|C14orf93_ENST00000557513.1_5'Flank	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	129						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCGGGACTTTCCTTGAGAGGC	0.607													ENSG00000100802																																					0													53.0	55.0	54.0					14																	23467848		2203	4300	6503	SO:0001583	missense	0			-	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.385G>A	14.37:g.23467848C>T	ENSP00000299088:p.Glu129Lys		B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	NULL	p.E129K	ENST00000299088.6	37	c.385	CCDS9583.1	14	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880475	0.51801	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.59	5.59	0.84812	.	0.211226	0.33364	N	0.004999	T	0.24928	0.0605	N	0.14661	0.345	0.25804	N	0.984473	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.07908	-1.0748	10	0.46703	T	0.11	-10.352	8.1886	0.31354	0.0:0.7573:0.16:0.0827	.	129;129	Q9H972;Q9H972-2	CN093_HUMAN;.	K	129	ENSP00000299088:E129K;ENSP00000341353:E129K;ENSP00000380535:E129K;ENSP00000380538:E129K;ENSP00000384768:E129K;ENSP00000380536:E129K;ENSP00000450771:E129K;ENSP00000452036:E129K	ENSP00000299088:E129K	E	-	1	0	C14orf93	22537688	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.005000	0.40864	2.644000	0.89710	0.561000	0.74099	GAA	-	C14orf93	-	NULL		0.607	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	0	0		47	47		0.00		C	NM_021944		23467848	-1	8		20		tier1	no_errors	ENST00000299088	ensembl	human	known	74_37	missense	28.57		SNP	1.000	T	8	20
GRAMD2	196996	genome.wustl.edu	37	15	72456010	72456010	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:72456010G>A	ENST00000309731.7	-	9	702	c.689C>T	c.(688-690)cCa>cTa	p.P230L	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	230						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CACGGATGATGGAGGGATACA	0.537													ENSG00000175318																																					0													118.0	100.0	106.0					15																	72456010		2199	4297	6496	SO:0001583	missense	0			-	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.689C>T	15.37:g.72456010G>A	ENSP00000311657:p.Pro230Leu		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.P230L	ENST00000309731.7	37	c.689	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	7.101	0.574039	0.13623	.	.	ENSG00000175318	ENST00000309731	T	0.29655	1.56	5.13	-5.36	0.02689	.	1.521200	0.04110	N	0.314539	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.19614	-1.0300	10	0.25106	T	0.35	.	6.5242	0.22293	0.0:0.4517:0.2163:0.332	.	230	Q8IUY3	GRAM2_HUMAN	L	230	ENSP00000311657:P230L	ENSP00000311657:P230L	P	-	2	0	GRAMD2	70243064	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.766000	0.04725	-1.688000	0.01435	-0.262000	0.10625	CCA	-	GRAMD2	-	NULL		0.537	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	0	0		36	36		0.00		G	NM_001012642		72456010	-1	7		36		tier1	no_errors	ENST00000309731	ensembl	human	known	74_37	missense	16.28		SNP	0.000	A	7	36
DNPEP	23549	genome.wustl.edu	37	2	220246114	220246114	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:220246114G>A	ENST00000273075.4	-	13	1402	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N	DNPEP_ENST00000373972.1_Silent_p.N319N|DNPEP_ENST00000523282.1_Silent_p.N402N|DNPEP_ENST00000490371.1_5'UTR	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	384					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGACACCGCGTTTGAAGCAT	0.597													ENSG00000123992																																					0													189.0	193.0	192.0					2																	220246114		2048	4196	6244	SO:0001819	synonymous_variant	0			-		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1182C>T	2.37:g.220246114G>A			Q9BW44|Q9NUV5	Silent	SNP	pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18	p.N394	ENST00000273075.4	37	c.1182	CCDS42823.1	2																																																																																			-	DNPEP	-	pfam_Peptidase_M18,pfam_Peptidase_M42		0.597	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNPEP	HGNC	protein_coding	OTTHUMT00000130212.1	0	0		35	35		0.00		G	NM_012100		220246114	-1	18		25		tier1	no_errors	ENST00000273075	ensembl	human	known	74_37	silent	40.91		SNP	0.905	A	18	25
OR1A2	26189	genome.wustl.edu	37	17	3101036	3101036	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:3101036C>T	ENST00000381951.1	+	1	224	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	75					positive regulation of cytokinesis (GO:0032467)	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)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ATCTTCTCATCCGTAACCATC	0.488													ENSG00000172150																																					0													230.0	194.0	206.0					17																	3101036		2203	4300	6503	SO:0001583	missense	0			-	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.224C>T	17.37:g.3101036C>T	ENSP00000371377:p.Ser75Phe		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S75F	ENST00000381951.1	37	c.224	CCDS11021.1	17	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219680	0.39201	.	.	ENSG00000172150	ENST00000381951	T	0.00408	7.54	4.09	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000159	T	0.01189	0.0039	M	0.82517	2.595	0.33002	D	0.526424	D	0.89917	1.0	D	0.91635	0.999	T	0.36383	-0.9750	10	0.72032	D	0.01	.	12.744	0.57270	0.0:0.8329:0.167:0.0	.	75	Q9Y585	OR1A2_HUMAN	F	75	ENSP00000371377:S75F	ENSP00000371377:S75F	S	+	2	0	OR1A2	3047786	0.011000	0.17503	0.923000	0.36655	0.016000	0.09150	2.560000	0.45896	1.042000	0.40150	0.603000	0.83216	TCC	-	OR1A2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A2	HGNC	protein_coding	OTTHUMT00000207293.1	0	0		53	53		0.00		C	NM_012352		3101036	+1	24		62		tier1	no_errors	ENST00000381951	ensembl	human	known	74_37	missense	27.59		SNP	0.934	T	24	62
UNC79	57578	genome.wustl.edu	37	14	94088139	94088139	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:94088139G>A	ENST00000393151.2	+	30	4560	c.4560G>A	c.(4558-4560)aaG>aaA	p.K1520K	UNC79_ENST00000553484.1_Silent_p.K1542K|UNC79_ENST00000555664.1_Silent_p.K1520K|UNC79_ENST00000256339.4_Silent_p.K1343K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1520					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCGTAGGAAGTCGTGCATAG	0.438													ENSG00000133958																																					0													100.0	94.0	96.0					14																	94088139		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4560G>A	14.37:g.94088139G>A			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.K1542	ENST00000393151.2	37	c.4626		14																																																																																			-	UNC79	-	superfamily_ARM-type_fold		0.438	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	0	0		57	57		0.00		G	XM_028395		94088139	+1	27		35		tier1	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	42.19		SNP	1.000	A	27	35
CA5BP1	340591	genome.wustl.edu	37	X	15721249	15721249	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:15721249C>T	ENST00000380334.2	+	0	666							Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB pseudogene 1							mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)										CCAAGGCTCCCCTGGCCTACG	0.647													ENSG00000186312																																					0																																												0			-	BC021816		Xp22.2	2012-11-02	2011-02-07	2011-02-07	ENSG00000186312	ENSG00000186312			29544	pseudogene	pseudogene	"""similar to carbonic anhydrase VB, mitochondrial precursor"", ""carbonic dehydratase"""		"""carbonic anhydrase VB-like"", ""carbonic anhydrase VB pseudogene"""	CA5BL, CA5BP		12477932	Standard	NR_026551		Approved	PRO2325	uc011mir.1	Q8WTZ4	OTTHUMG00000021182		X.37:g.15721249C>T			A6NEZ4	R	SNP	-	NULL	ENST00000380334.2	37	NULL		X																																																																																			-	CA5BP1	-	-		0.647	CA5BP1-005	KNOWN	basic	processed_transcript	CA5BP1	HGNC	pseudogene	OTTHUMT00000055884.3	0	0		23	23		0.00		C	NR_026551		15721249	+1	39		11		tier1	no_errors	ENST00000380333	ensembl	human	known	74_37	rna	78.00		SNP	0.000	T	39	11
LMTK3	114783	genome.wustl.edu	37	19	49013395	49013395	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:49013395C>T	ENST00000600059.1	-	3	473	c.246G>A	c.(244-246)ggG>ggA	p.G82G	LMTK3_ENST00000270238.3_Silent_p.G111G			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	82					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GAGTGTACTCCCCGGAGCAGT	0.627													ENSG00000142235																																					0													34.0	39.0	37.0					19																	49013395		1974	4158	6132	SO:0001819	synonymous_variant	0			-	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.246G>A	19.37:g.49013395C>T			Q4G0U1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G111	ENST00000600059.1	37	c.333		19																																																																																			-	LMTK3	-	NULL		0.627	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	0	0		72	72		0.00		C	NM_052895		49013395	-1	20		66		tier1	no_errors	ENST00000270238	ensembl	human	known	74_37	silent	22.99		SNP	0.995	T	20	66
FGF14	2259	genome.wustl.edu	37	13	102375268	102375268	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:102375268C>T	ENST00000376143.4	-	5	656	c.657G>A	c.(655-657)ccG>ccA	p.P219P	FGF14_ENST00000376131.4_Silent_p.P224P|ITGBL1_ENST00000415285.1_3'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	219					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCCAGGCTTCGGGACCGTTT	0.478													ENSG00000102466																																					0													233.0	182.0	199.0					13																	102375268		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.657G>A	13.37:g.102375268C>T			Q86YN7|Q96QX6	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.P224	ENST00000376143.4	37	c.672	CCDS9501.1	13																																																																																			-	FGF14	-	NULL		0.478	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	0	0		107	107		0.00		C			102375268	-1	9		62		tier1	no_errors	ENST00000376131	ensembl	human	known	74_37	silent	12.68		SNP	1.000	T	9	62
ZGRF1	55345	genome.wustl.edu	37	4	113509018	113509018	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr4:113509018C>T	ENST00000505019.1	-	12	3320	c.3195G>A	c.(3193-3195)caG>caA	p.Q1065Q		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1065						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAAGTGGAACCTGGGTTCTAC	0.403													ENSG00000138658																																					0													40.0	37.0	38.0					4																	113509018		692	1591	2283	SO:0001819	synonymous_variant	0			-																												ENST00000505019.1:c.3195G>A	4.37:g.113509018C>T			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.Q1065	ENST00000505019.1	37	c.3195		4																																																																																			-	C4orf21	-	NULL		0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	0	0		37	37		0.00		C			113509018	-1	36		47		tier1	no_errors	ENST00000505019	ensembl	human	known	74_37	silent	43.37		SNP	0.000	T	36	47
CLK4	57396	genome.wustl.edu	37	5	178039426	178039426	+	Missense_Mutation	SNP	C	C	T	rs375302614		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:178039426C>T	ENST00000316308.4	-	9	1210	c.1042G>A	c.(1042-1044)Gtc>Atc	p.V348I		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	348	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CCCAAAATGACCTCGGGAGCT	0.408													ENSG00000113240																																					0								C	ILE/VAL	0,4406		0,0,2203	62.0	61.0	62.0		1042	5.7	1.0	5		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	CLK4	NM_020666.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	348/482	178039426	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1042G>A	5.37:g.178039426C>T	ENSP00000316948:p.Val348Ile			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.V348I	ENST00000316308.4	37	c.1042	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803842	0.90623	0.0	1.16E-4	ENSG00000113240	ENST00000316308	T	0.69040	-0.37	5.68	5.68	0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	N	0.13140	0.3	0.80722	D	1	D;D	0.54601	0.967;0.967	D;D	0.83275	0.996;0.996	T	0.74748	-0.3560	10	0.87932	D	0	.	15.2725	0.73717	0.0:1.0:0.0:0.0	.	348;348	B9EG64;Q9HAZ1	.;CLK4_HUMAN	I	348	ENSP00000316948:V348I	ENSP00000316948:V348I	V	-	1	0	CLK4	177972032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.711000	0.84669	2.664000	0.90586	0.655000	0.94253	GTC	-	CLK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.408	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	0	0		81	81		0.00		C			178039426	-1	27		51		tier1	no_errors	ENST00000316308	ensembl	human	known	74_37	missense	34.62		SNP	1.000	T	27	51
SCAP	22937	genome.wustl.edu	37	3	47461103	47461103	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:47461103G>A	ENST00000265565.5	-	13	2067	c.1655C>T	c.(1654-1656)cCa>cTa	p.P552L	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.P297L|SCAP_ENST00000545718.1_Missense_Mutation_p.P160L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	552					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCACCCAATGGGCTCTGTTC	0.647													ENSG00000114650																									Pancreas(149;978 1908 29304 37806 46700)												0													59.0	60.0	60.0					3																	47461103		2203	4300	6503	SO:0001583	missense	0			-	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1655C>T	3.37:g.47461103G>A	ENSP00000265565:p.Pro552Leu		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P552L	ENST00000265565.5	37	c.1655	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923237	0.92319	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.80214	-1.35;-1.29;0.83	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.929	D	0.89507	0.3768	10	0.87932	D	0	-19.0351	17.2444	0.87023	0.0:0.0:1.0:0.0	.	297;552	F8W921;Q12770	.;SCAP_HUMAN	L	179;552;297;160	ENSP00000265565:P552L;ENSP00000416847:P297L;ENSP00000438956:P160L	ENSP00000265565:P552L	P	-	2	0	SCAP	47436107	1.000000	0.71417	0.944000	0.38274	0.718000	0.41266	9.085000	0.94083	2.405000	0.81733	0.462000	0.41574	CCA	-	SCAP	-	NULL		0.647	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	0	0		51	51		0.00		G	NM_012235		47461103	-1	24		49		tier1	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	32.88		SNP	1.000	A	24	49
IFRD2	7866	genome.wustl.edu	37	3	50329919	50329919	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:50329919G>A	ENST00000429673.2	-	0	0				IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000336089.4_Silent_p.L113L|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2							nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCACATCCACGAGGCTAAAAC	0.667													ENSG00000214706																																					0													24.0	25.0	24.0					3																	50329919		1534	3531	5065	SO:0001631	upstream_gene_variant	0			-	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935		3.37:g.50329919G>A	Exception_encountered		Q9BVB4|Q9UJ88	Silent	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.L113	ENST00000429673.2	37	c.339	CCDS46831.1	3																																																																																			-	IFRD2	-	NULL		0.667	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding		0	0		109	109		0.00		G	NM_006764		50329919	-1	19		146		tier1	no_errors	ENST00000336089	ensembl	human	known	74_37	silent	11.45		SNP	0.011	A	19	146
RYR3	6263	genome.wustl.edu	37	15	34030743	34030743	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:34030743C>T	ENST00000389232.4	+	50	7678	c.7608C>T	c.(7606-7608)caC>caT	p.H2536H	RYR3_ENST00000415757.3_Silent_p.H2536H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2536	4 X approximate repeats.				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)		AAGAGCTGCACCTAACGGAGA	0.493											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000198838																																					0													106.0	115.0	112.0					15																	34030743		1923	4122	6045	SO:0001819	synonymous_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.7608C>T	15.37:g.34030743C>T		844	O15175|Q15412	Silent	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.H2536	ENST00000389232.4	37	c.7608	CCDS45210.1	15																																																																																			-	RYR3	-	superfamily_ARM-type_fold		0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	0	0		48	48		0.00		C			34030743	+1	10		31		tier1	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	24.39		SNP	1.000	T	10	31
KALRN	8997	genome.wustl.edu	37	3	124351510	124351510	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:124351510C>T	ENST00000291478.5	+	2	492	c.329C>T	c.(328-330)cCt>cTt	p.P110L	KALRN_ENST00000428018.2_Missense_Mutation_p.P110L|KALRN_ENST00000393496.1_Missense_Mutation_p.P180L|KALRN_ENST00000360013.3_Missense_Mutation_p.P1807L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1807	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTCCCAAGCCTGGGGATGAA	0.552													ENSG00000160145																																					0													91.0	95.0	93.0					3																	124351510		2203	4300	6503	SO:0001583	missense	0			-	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.329C>T	3.37:g.124351510C>T	ENSP00000291478:p.Pro110Leu		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P1807L	ENST00000291478.5	37	c.5420	CCDS3028.1	3	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309488	0.60414	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018	T;T;T;T	0.60672	0.2;0.66;0.24;0.17	5.01	5.01	0.66863	.	0.246051	0.34046	N	0.004305	T	0.38427	0.1040	N	0.03608	-0.345	0.44366	D	0.997261	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.09377	0.0;0.003;0.004	T	0.31251	-0.9950	10	0.62326	D	0.03	.	18.5089	0.90909	0.0:1.0:0.0:0.0	.	110;180;1807	C9JQ37;O60229-5;O60229	.;.;KALRN_HUMAN	L	1807;180;110;110;110	ENSP00000353109:P1807L;ENSP00000377134:P180L;ENSP00000291478:P110L;ENSP00000402419:P110L	ENSP00000291478:P110L	P	+	2	0	KALRN	125834200	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	2.613000	0.88420	0.511000	0.50034	CCT	-	KALRN	-	NULL		0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	0	0		43	43		0.00		C	NM_003947		124351510	+1	10		66		tier1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	13.16		SNP	1.000	T	10	66
KIAA0513	9764	genome.wustl.edu	37	16	85112038	85112038	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:85112038C>T	ENST00000566428.1	+	7	1431	c.800C>T	c.(799-801)cCc>cTc	p.P267L	KIAA0513_ENST00000567328.1_Missense_Mutation_p.P267L|KIAA0513_ENST00000258180.3_Missense_Mutation_p.P267L|KIAA0513_ENST00000538274.1_Missense_Mutation_p.P267L			O60268	K0513_HUMAN	KIAA0513	267						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GAGAACAAACCCCAGGAGAAG	0.592													ENSG00000135709																																					0													55.0	54.0	54.0					16																	85112038		2198	4300	6498	SO:0001583	missense	0			-	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.800C>T	16.37:g.85112038C>T	ENSP00000457408:p.Pro267Leu		B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	pfam_SBF2	p.P267L	ENST00000566428.1	37	c.800	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822810	0.32237	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.37411	1.2;1.2	4.97	4.97	0.65823	.	0.421176	0.26522	N	0.023902	T	0.28433	0.0703	L	0.27053	0.805	0.49389	D	0.999785	B;B	0.27416	0.178;0.049	B;B	0.24394	0.053;0.024	T	0.11542	-1.0583	10	0.72032	D	0.01	-18.9898	15.3237	0.74144	0.0:1.0:0.0:0.0	.	267;267	B4DSS5;O60268	.;K0513_HUMAN	L	267	ENSP00000446439:P267L;ENSP00000258180:P267L	ENSP00000258180:P267L	P	+	2	0	KIAA0513	83669539	0.005000	0.15991	0.964000	0.40570	0.110000	0.19582	1.209000	0.32357	2.447000	0.82792	0.561000	0.74099	CCC	-	KIAA0513	-	NULL		0.592	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	0	0		17	17		0.00		C	NM_014732		85112038	+1	5		4		tier1	no_errors	ENST00000258180	ensembl	human	known	74_37	missense	55.56		SNP	0.997	T	5	4
NASP	4678	genome.wustl.edu	37	1	46079853	46079853	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:46079853G>A	ENST00000350030.3	+	8	1679	c.1592G>A	c.(1591-1593)aGg>aAg	p.R531K	NASP_ENST00000537798.1_Splice_Site_p.R467K|NASP_ENST00000372052.4_Splice_Site_p.R165K|NASP_ENST00000402363.3_Splice_Site_p.R533K|NASP_ENST00000351223.3_Splice_Site_p.R192K|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	531	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ATTTTTAAAAGGTAAAACTCT	0.388													ENSG00000132780																																					0													76.0	82.0	80.0					1																	46079853		2203	4300	6503	SO:0001630	splice_region_variant	0			-	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1592+1G>A	1.37:g.46079853G>A			A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R533K	ENST00000350030.3	37	c.1598	CCDS524.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.288139|5.288139	0.95517|0.95517	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000437901;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223	.|T;T;T;T;T;T;T	.|0.73469	.|-0.75;1.03;1.03;1.03;1.03;-0.0;-0.75	5.73|5.73	4.81|4.81	0.61882|0.61882	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80428|0.80428	0.4621|0.4621	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;P;P	.|0.76494	.|0.999;0.995;0.534;0.664	.|D;D;P;P	.|0.80764	.|0.994;0.98;0.518;0.711	T|T	0.83194|0.83194	-0.0082|-0.0082	5|10	.|0.87932	.|D	.|0	-8.6789|-8.6789	16.4102|16.4102	0.83708|0.83708	0.0:0.0:0.8672:0.1328|0.0:0.0:0.8672:0.1328	.|.	.|467;192;531;533	.|F5H3J2;Q5T626;P49321;P49321-3	.|.;.;NASP_HUMAN;.	S|K	56|192;467;533;431;128;531;165;192	.|ENSP00000400792:R192K;ENSP00000438871:R467K;ENSP00000384529:R533K;ENSP00000432289:R128K;ENSP00000255120:R531K;ENSP00000361122:R165K;ENSP00000255121:R192K	.|ENSP00000345532:R431K	G|R	+|+	1|2	0|0	NASP|NASP	45852440|45852440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	9.549000|9.549000	0.98106|0.98106	1.539000|1.539000	0.49286|0.49286	-0.181000|-0.181000	0.13052|0.13052	GGC|AGG	-	SP	-	NULL		0.388	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP	HGNC	protein_coding	OTTHUMT00000021533.2	0	0		81	81		0.00		G	NM_002482	Missense_Mutation	46079853	+1	57		82		tier1	no_errors	ENST00000402363	ensembl	human	known	74_37	missense	41.01		SNP	1.000	A	57	82
KIAA1614	57710	genome.wustl.edu	37	1	180905047	180905047	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:180905047C>T	ENST00000367588.4	+	5	2057	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	KIAA1614_ENST00000367587.1_Missense_Mutation_p.P289S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	668										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCGGAGCTCCCTTGGGGCCT	0.647													ENSG00000135835																																					0													44.0	48.0	47.0					1																	180905047		1951	4155	6106	SO:0001583	missense	0			-	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2002C>T	1.37:g.180905047C>T	ENSP00000356560:p.Pro668Ser		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	NULL	p.P668S	ENST00000367588.4	37	c.2002	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	c	14.38	2.518228	0.44763	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25414	2.33;1.8	4.77	1.42	0.22433	.	0.553109	0.17091	N	0.187370	T	0.15825	0.0381	L	0.32530	0.975	0.29149	N	0.878491	B	0.33318	0.408	B	0.27170	0.077	T	0.13388	-1.0511	9	0.66056	D	0.02	-4.3841	6.9467	0.24522	0.1497:0.6777:0.0:0.1726	.	668	Q5VZ46	K1614_HUMAN	S	668;289	ENSP00000356560:P668S;ENSP00000356559:P289S	ENSP00000356559:P289S	P	+	1	0	KIAA1614	179171670	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.518000	0.22847	0.433000	0.26313	0.556000	0.70494	CCT	-	KIAA1614	-	NULL		0.647	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	0	0		40	40		0.00		C	XM_046531		180905047	+1	34		47		tier1	no_errors	ENST00000367588	ensembl	human	known	74_37	missense	41.98		SNP	0.001	T	34	47
PPP1R9B	84687	genome.wustl.edu	37	17	48212145	48212145	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:48212145G>A	ENST00000316878.6	-	0	3001				PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGGGAACAGGGATGGGGGAGG	0.642													ENSG00000108819																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.*551C>T	17.37:g.48212145G>A			Q8TCR9	R	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			-	PPP1R9B	-	-		0.642	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		0	0		47	47		0.00		G	NM_032595		48212145	-1	10		37		tier1	no_errors	ENST00000501501	ensembl	human	known	74_37	rna	21.28		SNP	0.001	A	10	37
DISC1	27185	genome.wustl.edu	37	1	232144551	232144551	+	Missense_Mutation	SNP	G	G	A	rs367543094		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:232144551G>A	ENST00000439617.2	+	11	2116	c.2063G>A	c.(2062-2064)gGg>gAg	p.G688E	DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.G668R|DISC1_ENST00000366637.3_Missense_Mutation_p.G20E	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	688	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CCACTGCTTGGGAAAGTGTGG	0.488													ENSG00000162946																																					0								G	GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,ARG/GLY,,GLU/GLY	3,3929		0,3,1963	84.0	83.0	84.0		2063,2159,2063,1697,2002,,2063	-0.0	0.1	1		84	0,8334		0,0,4167	no	missense,missense,missense,missense,missense,utr-3,missense	DISC1	NM_001012957.1,NM_001164537.1,NM_001164538.1,NM_001164540.1,NM_001164541.1,NM_001164547.1,NM_018662.2	98,98,98,98,125,,98	0,3,6130	AA,AG,GG		0.0,0.0763,0.0245	benign,benign,benign,benign,benign,,benign	688/833,720/887,688/804,566/733,668/696,,688/855	232144551	3,12263	1966	4167	6133	SO:0001583	missense	0			-	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2063G>A	1.37:g.232144551G>A	ENSP00000403888:p.Gly688Glu		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.G688E	ENST00000439617.2	37	c.2063		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.119|0.119	-1.128655|-1.128655	0.01756|0.01756	7.63E-4|7.63E-4	0.0|0.0	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560|ENST00000535983;ENST00000422590	T|T	0.06068|0.12255	3.35|2.7	4.63|4.63	-0.00636|-0.00636	0.14014|0.14014	.|.	0.630007|0.630007	0.15007|0.15007	N|N	0.285807|0.285807	T|T	0.09024|0.09024	0.0223|0.0223	.|.	.|.	.|.	0.21105|0.21105	N|N	0.99979|0.99979	B;B;B;B;B;B;B|B	0.28350|0.12013	0.208;0.041;0.208;0.208;0.004;0.093;0.01|0.005	B;B;B;B;B;B;B|B	0.22152|0.08055	0.038;0.026;0.038;0.038;0.009;0.026;0.026|0.003	T|T	0.26087|0.26087	-1.0113|-1.0113	9|9	0.02654|0.45353	T|T	1|0.12	0.0025|0.0025	7.3585|7.3585	0.26733|0.26733	0.6484:0.0:0.3516:0.0|0.6484:0.0:0.3516:0.0	.|.	720;566;720;688;566;688;688|668	C4P096;C4P094;E2QRA4;C4P098;F5H1F1;Q9NRI5-2;Q9NRI5|C4P0A3	.;.;.;.;.;.;DISC1_HUMAN|.	E|R	688;688;720;566;20|668;91	ENSP00000403888:G688E|ENSP00000443996:G668R	ENSP00000355597:G688E|ENSP00000415147:G91R	G|G	+|+	2|1	0|0	DISC1|DISC1	230211174|230211174	0.007000|0.007000	0.16637|0.16637	0.063000|0.063000	0.19743|0.19743	0.615000|0.615000	0.37417|0.37417	0.981000|0.981000	0.29526|0.29526	-0.135000|-0.135000	0.11495|0.11495	0.650000|0.650000	0.86243|0.86243	GGG|GGA	-	DISC1	-	NULL		0.488	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000092351.2	0	0		19	19		0.00		G	NM_018662		232144551	+1	11		9		tier1	no_errors	ENST00000439617	ensembl	human	known	74_37	missense	55.00		SNP	0.419	A	11	9
OSBPL3	26031	genome.wustl.edu	37	7	24903200	24903200	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:24903200G>A	ENST00000313367.2	-	8	1143	c.692C>T	c.(691-693)gCc>gTc	p.A231V	OSBPL3_ENST00000352860.1_Missense_Mutation_p.A231V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A231V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A231V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A231V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.A231V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A231V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	231					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TACCAGGTAGGCATGACAGTG	0.562													ENSG00000070882																																					0													138.0	117.0	124.0					7																	24903200		2203	4300	6503	SO:0001583	missense	0			-	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.692C>T	7.37:g.24903200G>A	ENSP00000315410:p.Ala231Val		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A231V	ENST00000313367.2	37	c.692	CCDS5390.1	7	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290270	0.40494	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.43688	2.29;0.94;0.95;2.27;0.94;0.95;2.27	5.87	4.99	0.66335	.	0.733633	0.13567	N	0.378377	T	0.43166	0.1235	L	0.54323	1.7	0.09310	N	0.999999	B;B;B;B	0.22983	0.078;0.078;0.078;0.047	B;B;B;B	0.31290	0.127;0.103;0.127;0.089	T	0.40175	-0.9577	10	0.49607	T	0.09	-10.0939	11.3453	0.49556	0.0:0.2503:0.6182:0.1315	.	231;231;231;231	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	V	231	ENSP00000315410:A231V;ENSP00000315331:A231V;ENSP00000315277:A231V;ENSP00000389779:A231V;ENSP00000379708:A231V;ENSP00000379706:A231V;ENSP00000386953:A231V	ENSP00000315410:A231V	A	-	2	0	OSBPL3	24869725	0.992000	0.36948	0.011000	0.14972	0.854000	0.48673	4.433000	0.59929	1.485000	0.48380	0.655000	0.94253	GCC	-	OSBPL3	-	NULL		0.562	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	0	0		43	43		0.00		G			24903200	-1	21		37		tier1	no_errors	ENST00000313367	ensembl	human	known	74_37	missense	36.21		SNP	0.014	A	21	37
CATSPERD	257062	genome.wustl.edu	37	19	5733903	5733903	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:5733903G>A	ENST00000381624.3	+	5	374	c.313G>A	c.(313-315)Ggt>Agt	p.G105S	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	105					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACATTTTGCTGGTTCGTTATT	0.328													ENSG00000174898																																					0													164.0	159.0	161.0					19																	5733903		1884	4107	5991	SO:0001583	missense	0			-	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.313G>A	19.37:g.5733903G>A	ENSP00000371037:p.Gly105Ser		Q6ZRP1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.G105S	ENST00000381624.3	37	c.313	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	g	12.26	1.885033	0.33255	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.22945	1.93	4.37	1.87	0.25490	.	0.664834	0.11611	U	0.546737	T	0.20251	0.0487	L	0.48362	1.52	0.09310	N	0.999996	P	0.36392	0.551	B	0.35727	0.209	T	0.20538	-1.0272	10	0.62326	D	0.03	.	4.3085	0.10958	0.1197:0.0:0.5981:0.2822	.	105	Q86XM0	TM146_HUMAN	S	31;105	ENSP00000371037:G105S	ENSP00000371037:G105S	G	+	1	0	TMEM146	5684903	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.358000	0.20216	0.968000	0.38212	0.651000	0.88453	GGT	-	CATSPERD	-	superfamily_WD40_repeat_dom		0.328	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	0	0		36	36		0.00		G	NM_152784		5733903	+1	13		29		tier1	no_errors	ENST00000381624	ensembl	human	known	74_37	missense	30.95		SNP	0.000	A	13	29
HLA-DRB1	3123	genome.wustl.edu	37	6	32548563	32548563	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:32548563G>A	ENST00000360004.5	-	4	828	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|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)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|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)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CGGCCCCAAGGAAGAGCAGGC	0.547										Multiple Myeloma(14;0.17)			ENSG00000196126																																					0													92.0	106.0	101.0					6																	32548563		1511	2709	4220	SO:0001819	synonymous_variant	0			-	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.723C>T	6.37:g.32548563G>A			P01914|Q9MYF5	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.F241	ENST00000360004.5	37	c.723	CCDS47409.1	6																																																																																			-	HLA-DRB1	-	NULL		0.547	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	0	0		160	160		0.00		G	NM_002124		32548563	-1	32		160		tier1	no_errors	ENST00000360004	ensembl	human	known	74_37	silent	16.67		SNP	0.998	A	32	160
PRPF8	10594	genome.wustl.edu	37	17	1557276	1557276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:1557276G>A	ENST00000572621.1	-	37	6287	c.6022C>T	c.(6022-6024)Cga>Tga	p.R2008*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R2008*|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2008	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGATGTCTCGAATTTCTGAT	0.527													ENSG00000174231																																					0													293.0	245.0	262.0					17																	1557276		2203	4300	6503	SO:0001587	stop_gained	0			-	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6022C>T	17.37:g.1557276G>A	ENSP00000460348:p.Arg2008*		O14547|O75965	Nonsense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snR-bd,pfam_PRO8NT,pfam_Prp8_U5-snR-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.R2008*	ENST00000572621.1	37	c.6022	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	49	15.104720	0.99822	.	.	ENSG00000174231	ENST00000304992	.	.	.	6.17	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.01	13.5788	0.61890	0.0:0.0:0.5917:0.4083	.	.	.	.	X	2008	.	ENSP00000304350:R2008X	R	-	1	2	PRPF8	1504026	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.070000	0.50033	0.865000	0.35603	0.655000	0.94253	CGA	-	PRPF8	-	NULL		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	0	0		37	37		0.00		G			1557276	-1	6		24		tier1	no_errors	ENST00000304992	ensembl	human	known	74_37	nonsense	20.00		SNP	1.000	A	6	24
DIDO1	11083	genome.wustl.edu	37	20	61511108	61511108	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:61511108G>A	ENST00000266070.4	-	16	6525	c.6200C>T	c.(6199-6201)tCg>tTg	p.S2067L	DIDO1_ENST00000395343.1_Missense_Mutation_p.S2067L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2067					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGTCGGCCGATGCCCACTG	0.682													ENSG00000101191																									Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													79.0	90.0	86.0					20																	61511108		2071	4082	6153	SO:0001583	missense	0			-	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6200C>T	20.37:g.61511108G>A	ENSP00000266070:p.Ser2067Leu		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.S2067L	ENST00000266070.4	37	c.6200	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023625	0.19433	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	4.98	4.01	0.46588	.	0.727117	0.11252	U	0.583490	T	0.09642	0.0237	L	0.43152	1.355	0.22911	N	0.998577	B	0.20261	0.043	B	0.15052	0.012	T	0.20940	-1.0260	10	0.59425	D	0.04	-0.0398	10.9111	0.47110	0.0:0.1412:0.7124:0.1464	.	2067	Q9BTC0	DIDO1_HUMAN	L	2067	ENSP00000266070:S2067L;ENSP00000378752:S2067L	ENSP00000266070:S2067L	S	-	2	0	DIDO1	60981553	0.018000	0.18449	0.001000	0.08648	0.001000	0.01503	2.252000	0.43196	1.042000	0.40150	0.655000	0.94253	TCG	-	DIDO1	-	NULL		0.682	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	0	0		58	58		0.00		G	NM_080796		61511108	-1	23		63		tier1	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	26.74		SNP	0.002	A	23	63
OR4B1	119765	genome.wustl.edu	37	11	48238822	48238822	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:48238822C>T	ENST00000309562.2	+	1	479	c.461C>T	c.(460-462)tCc>tTc	p.S154F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTTTGTCACTCCATAATTCAG	0.468													ENSG00000175619																																					0													96.0	95.0	95.0					11																	48238822		2201	4298	6499	SO:0001583	missense	0			-	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.461C>T	11.37:g.48238822C>T	ENSP00000311605:p.Ser154Phe		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S154F	ENST00000309562.2	37	c.461	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292565	0.40594	.	.	ENSG00000175619	ENST00000309562	T	0.44881	0.91	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000057	T	0.76219	0.3957	H	0.95950	3.745	0.43172	D	0.994978	D	0.89917	1.0	D	0.97110	1.0	D	0.84349	0.0531	10	0.87932	D	0	.	16.9799	0.86324	0.0:1.0:0.0:0.0	.	154	Q8NGF8	OR4B1_HUMAN	F	154	ENSP00000311605:S154F	ENSP00000311605:S154F	S	+	2	0	OR4B1	48195398	0.011000	0.17503	0.928000	0.36995	0.002000	0.02628	1.914000	0.39966	2.599000	0.87857	0.508000	0.49915	TCC	-	OR4B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.468	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	0	0		57	57		0.00		C	NM_001005470		48238822	+1	20		50		tier1	no_errors	ENST00000309562	ensembl	human	known	74_37	missense	28.17		SNP	0.993	T	20	50
MUC4	4585	genome.wustl.edu	37	3	195513170	195513170	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:195513170G>A	ENST00000463781.3	-	2	5740	c.5281C>T	c.(5281-5283)Ctt>Ttt	p.L1761F	MUC4_ENST00000475231.1_Missense_Mutation_p.L1761F|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGGGGTGGCC	0.587													ENSG00000145113																																					0													54.0	50.0	51.0					3																	195513170		692	1591	2283	SO:0001583	missense	0			-	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5281C>T	3.37:g.195513170G>A	ENSP00000417498:p.Leu1761Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L1761F	ENST00000463781.3	37	c.5281	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	4.639	0.118780	0.08881	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.45276	1.14;0.9	.	.	.	.	.	.	.	.	T	0.21718	0.0523	N	0.19112	0.55	0.09310	N	1	P	0.47604	0.898	B	0.40165	0.321	T	0.09422	-1.0675	7	.	.	.	.	2.8509	0.05558	3.0E-4:2.0E-4:0.5024:0.497	.	1761	E7ESK3	.	F	1761	ENSP00000417498:L1761F;ENSP00000420243:L1761F	.	L	-	1	0	MUC4	196997565	0.002000	0.14202	0.008000	0.14137	0.008000	0.06430	-0.784000	0.04633	0.088000	0.17205	0.089000	0.15464	CTT	-	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	0	0		283	283		0.00		G	NM_018406		195513170	-1	71		353		tier1	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	16.71		SNP	0.002	A	71	353
EFTUD2	9343	genome.wustl.edu	37	17	42937396	42937396	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:42937396G>A	ENST00000426333.2	-	18	2034	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P	EFTUD2_ENST00000591382.1_Silent_p.P579P|EFTUD2_ENST00000402521.3_Silent_p.P544P|EFTUD2_ENST00000592576.1_Silent_p.P569P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	579					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TGAACTTCAAGGGTCGGAAAA	0.502													ENSG00000108883																									Ovarian(10;65 485 10258 29980 30707)												0													112.0	103.0	106.0					17																	42937396		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1737C>T	17.37:g.42937396G>A			B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.P579	ENST00000426333.2	37	c.1737	CCDS11489.1	17																																																																																			-	EFTUD2	-	NULL		0.502	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	0	0		35	35		0.00		G	NM_004247		42937396	-1	28		57		tier1	no_errors	ENST00000426333	ensembl	human	known	74_37	silent	32.94		SNP	0.951	A	28	57
PASD1	139135	genome.wustl.edu	37	X	150842501	150842501	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:150842501C>T	ENST00000370357.4	+	15	2263	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	673						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGTTTCCCATAACTTCA	0.493													ENSG00000166049																																					0													125.0	111.0	116.0					X																	150842501		2203	4300	6503	SO:0001583	missense	0			-	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2018C>T	X.37:g.150842501C>T	ENSP00000359382:p.Pro673Leu		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.P673L	ENST00000370357.4	37	c.2018	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189192	0.38707	.	.	ENSG00000166049	ENST00000370357	T	0.36157	1.27	3.23	1.45	0.22620	.	.	.	.	.	T	0.21674	0.0522	N	0.24115	0.695	0.09310	N	1	B	0.27882	0.192	B	0.27076	0.076	T	0.25012	-1.0144	9	0.87932	D	0	-0.0015	3.4001	0.07320	0.2519:0.6068:0.0:0.1413	.	673	Q8IV76	PASD1_HUMAN	L	673	ENSP00000359382:P673L	ENSP00000359382:P673L	P	+	2	0	PASD1	150593157	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.091000	0.11146	0.254000	0.21573	0.600000	0.82982	CCC	-	PASD1	-	NULL		0.493	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	0	0		25	25		0.00		C	NM_173493		150842501	+1	26		12		tier1	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	68.42		SNP	0.000	T	26	12
LILRB4	11006	genome.wustl.edu	37	19	55179409	55179409	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:55179409C>T	ENST00000391736.1	+	14	1601	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	LILRB4_ENST00000270452.2_Missense_Mutation_p.P429L|LILRB4_ENST00000391734.3_Missense_Mutation_p.P376L|LILRB4_ENST00000430952.2_Missense_Mutation_p.P428L|LILRB4_ENST00000391733.3_Missense_Mutation_p.P430L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	429					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCTCCTCCATCCCAGGAA	0.617													ENSG00000186818																																					0													95.0	97.0	96.0					19																	55179409		2203	4300	6503	SO:0001583	missense	0			-	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1286C>T	19.37:g.55179409C>T	ENSP00000375616:p.Pro429Leu		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	pfam_Immunoglobulin,pfscan_Ig-like_dom	p.P429L	ENST00000391736.1	37	c.1286	CCDS12902.1	19	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.053071	0.00394	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00538	6.95;6.95;6.95;6.71;6.96	2.07	0.983	0.19767	.	.	.	.	.	T	0.00468	0.0015	L	0.52126	1.63	0.09310	N	1	B;B;B;P	0.44090	0.002;0.004;0.092;0.826	B;B;B;B	0.37780	0.0;0.001;0.059;0.258	T	0.49254	-0.8959	9	0.27082	T	0.32	.	4.686	0.12758	0.0:0.7979:0.0:0.2021	.	376;430;428;429	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	L	429;429;428;376;430	ENSP00000375616:P429L;ENSP00000270452:P429L;ENSP00000408995:P428L;ENSP00000375614:P376L;ENSP00000375613:P430L	ENSP00000270452:P429L	P	+	2	0	LILRB4	59871221	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.054000	0.11826	0.213000	0.20722	-0.481000	0.04817	CCA	-	LILRB4	-	NULL		0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	0	0		95	95		0.00		C			55179409	+1	13		101		tier1	no_errors	ENST00000270452	ensembl	human	known	74_37	missense	11.40		SNP	0.000	T	13	101
STAB1	23166	genome.wustl.edu	37	3	52557974	52557974	+	Missense_Mutation	SNP	G	G	A	rs374499332		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:52557974G>A	ENST00000321725.6	+	67	7559	c.7483G>A	c.(7483-7485)Gga>Aga	p.G2495R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2495					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTGGTGGCCGGAGCTCTCTA	0.652													ENSG00000010327																																					0								G	ARG/GLY	0,4398		0,0,2199	24.0	26.0	25.0		7483	4.4	0.4	3		25	3,8587		0,3,4292	no	missense	STAB1	NM_015136.2	125	0,3,6491	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	2495/2571	52557974	3,12985	2199	4295	6494	SO:0001583	missense	0			-	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7483G>A	3.37:g.52557974G>A	ENSP00000312946:p.Gly2495Arg		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G2495R	ENST00000321725.6	37	c.7483	CCDS33768.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.91|14.91	2.675685|2.675685	0.47781|0.47781	0.0|0.0	3.49E-4|3.49E-4	ENSG00000010327|ENSG00000010327	ENST00000321725|ENST00000469989	D|.	0.85484|.	-1.99|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.163372|.	0.38164|.	N|.	0.001796|.	T|T	0.65333|0.65333	0.2681|0.2681	M|M	0.64997|0.64997	1.995|1.995	0.34505|0.34505	D|D	0.70652|0.70652	D;D|.	0.71674|.	0.998;0.994|.	P;P|.	0.56216|.	0.794;0.636|.	T|T	0.72151|0.72151	-0.4377|-0.4377	10|5	0.54805|.	T|.	0.06|.	.|.	12.767|12.767	0.57396|0.57396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	407;2495|.	B3KSK0;Q9NY15|.	.;STAB1_HUMAN|.	R|Q	2495|101	ENSP00000312946:G2495R|.	ENSP00000312946:G2495R|.	G|R	+|+	1|2	0|0	STAB1|STAB1	52533014|52533014	0.146000|0.146000	0.22672|0.22672	0.405000|0.405000	0.26409|0.26409	0.088000|0.088000	0.18126|0.18126	3.031000|3.031000	0.49728|0.49728	2.733000|2.733000	0.93635|0.93635	0.561000|0.561000	0.74099|0.74099	GGA|CGG	-	STAB1	-	NULL		0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	0	0		29	29		0.00		G	NM_015136		52557974	+1	11		35		tier1	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	23.91		SNP	0.505	A	11	35
RYR2	6262	genome.wustl.edu	37	1	237813397	237813397	+	Splice_Site	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:237813397G>A	ENST00000366574.2	+	50	8050	c.7733G>A	c.(7732-7734)gGa>gAa	p.G2578E	RYR2_ENST00000542537.1_Splice_Site_p.G2562E|RYR2_ENST00000360064.6_Splice_Site_p.G2576E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2578	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)			TCTATTTGTGGGTGAGTGGAT	0.343													ENSG00000198626																																					0													139.0	128.0	132.0					1																	237813397		1831	4096	5927	SO:0001630	splice_region_variant	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.7733+1G>A	1.37:g.237813397G>A			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.G2576E	ENST00000366574.2	37	c.7727	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997344	0.35226	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91686	-2.89;-2.89;-2.89	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000004	D	0.86556	0.5961	N	0.19112	0.55	0.80722	D	1	P	0.44946	0.846	B	0.38842	0.283	D	0.86139	0.1580	10	0.33940	T	0.23	-12.0176	19.9299	0.97115	0.0:0.0:1.0:0.0	.	2578	Q92736	RYR2_HUMAN	E	2578;2576;2562	ENSP00000355533:G2578E;ENSP00000353174:G2576E;ENSP00000443798:G2562E	ENSP00000353174:G2576E	G	+	2	0	RYR2	235880020	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.802000	0.62539	2.769000	0.95229	0.655000	0.94253	GGA	-	RYR2	-	NULL		0.343	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	0	0		59	59		0.00		G	NM_001035	Missense_Mutation	237813397	+1	10		64		tier1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	13.51		SNP	1.000	A	10	64
EYS	346007	genome.wustl.edu	37	6	65327426	65327426	+	Splice_Site	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:65327426C>T	ENST00000370621.3	-	24	4095	c.3569G>A	c.(3568-3570)gGa>gAa	p.G1190E	EYS_ENST00000370616.2_Splice_Site_p.G1190E|EYS_ENST00000503581.1_Splice_Site_p.G1190E			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1190	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCAGACCATCCTGTTCAACA	0.353													ENSG00000188107																																					0													84.0	66.0	71.0					6																	65327426		692	1591	2283	SO:0001630	splice_region_variant	0			-		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3569-1G>A	6.37:g.65327426C>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.G1190E	ENST00000370621.3	37	c.3569		6	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468710	0.63625	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.98135	-4.74;-4.74;-4.74	4.71	3.83	0.44106	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98473	0.9491	M	0.93375	3.41	0.25253	N	0.989655	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94991	0.8134	9	0.66056	D	0.02	.	8.1235	0.30984	0.0:0.8876:0.0:0.1124	.	1190;1190	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	E	1190	ENSP00000424243:G1190E;ENSP00000359655:G1190E;ENSP00000359650:G1190E	ENSP00000359650:G1190E	G	-	2	0	EYS	65384147	0.005000	0.15991	0.122000	0.21767	0.479000	0.33129	1.562000	0.36353	1.315000	0.45114	0.591000	0.81541	GGA	-	EYS	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.353	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	0	0		87	87		0.00		C	XM_294050	Missense_Mutation	65327426	-1	12		66		tier1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	15.38		SNP	0.281	T	12	66
SERPING1	710	genome.wustl.edu	37	11	57381830	57381830	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:57381830C>T	ENST00000278407.4	+	8	1506	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	SERPING1_ENST00000378324.2_Silent_p.L375L|SERPING1_ENST00000340687.6_Silent_p.L390L|SERPING1_ENST00000378323.4_Silent_p.L432L|SERPING1_ENST00000403558.1_Silent_p.L470L	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	427					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGACCTTAACCTGTGTGGGCT	0.517													ENSG00000149131																																					0			GRCh37	CD084223	SERPING1	D							95.0	94.0	94.0					11																	57381830		2201	4296	6497	SO:0001819	synonymous_variant	0			-	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1279C>T	11.37:g.57381830C>T			A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L427	ENST00000278407.4	37	c.1279	CCDS7962.1	11																																																																																			-	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.517	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	0	0		42	42		0.00		C	NM_000062		57381830	+1	17		38		tier1	no_errors	ENST00000278407	ensembl	human	known	74_37	silent	30.91		SNP	1.000	T	17	38
SH2D4B	387694	genome.wustl.edu	37	10	82405963	82405963	+	3'UTR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:82405963G>A	ENST00000470604.2	+	0	3418				SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000339284.2_3'UTR|SH2D4B_ENST00000313455.4_3'UTR			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B											endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			ATGTATCAGGGGATATGATGT	0.393													ENSG00000178217																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.*2122G>A	10.37:g.82405963G>A			Q5SQS5|Q6ZVW9|Q6ZVZ3	R	SNP	-	NULL	ENST00000470604.2	37	NULL		10																																																																																			-	SH2D4B	-	-		0.393	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	HGNC	protein_coding		0	0		66	66		0.00		G	XM_351984		82405963	+1	9		63		tier1	no_errors	ENST00000372150	ensembl	human	known	74_37	rna	12.50		SNP	0.001	A	9	63
LENEP	55891	genome.wustl.edu	37	1	154966129	154966129	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:154966129C>T	ENST00000392487.1	+	1	66	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	16					multicellular organismal development (GO:0007275)		DNA binding (GO:0003677)			lung(2)	2	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)			ACCCTTCTTCCTCGGAGGGGC	0.612													ENSG00000163352																																					0													55.0	55.0	55.0					1																	154966129		2203	4300	6503	SO:0001583	missense	0			-	AF268478	CCDS1080.1	1q22.2	2008-02-05			ENSG00000163352	ENSG00000163352			14429	protein-coding gene	gene with protein product		607377				10655141, 11376938	Standard	NM_018655		Approved	LEP503	uc001fgi.3	Q9Y5L5	OTTHUMG00000037417	ENST00000392487.1:c.46C>T	1.37:g.154966129C>T	ENSP00000376278:p.Leu16Phe		B5BUM1|Q5T1A4	Missense_Mutation	SNP	NULL	p.L16F	ENST00000392487.1	37	c.46	CCDS1080.1	1	.	.	.	.	.	.	.	.	.	.	C	4.209	0.037500	0.08148	.	.	ENSG00000163352	ENST00000392487	.	.	.	5.13	1.14	0.20703	.	0.722427	0.11396	N	0.568299	T	0.14399	0.0348	.	.	.	0.30220	N	0.796897	B	0.09022	0.002	B	0.09377	0.004	T	0.16424	-1.0403	8	0.38643	T	0.18	-3.9922	6.9168	0.24363	0.0:0.6069:0.0:0.3931	.	16	Q9Y5L5	LENEP_HUMAN	F	16	.	ENSP00000357412:L16F	L	+	1	0	LENEP	153232753	0.715000	0.27946	0.626000	0.29213	0.087000	0.18053	0.581000	0.23819	0.049000	0.15920	-0.244000	0.11960	CTC	-	LENEP	-	NULL		0.612	LENEP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LENEP	HGNC	protein_coding	OTTHUMT00000385609.2	0	0		78	78		0.00		C	NM_018655		154966129	+1	66		80		tier1	no_errors	ENST00000368427	ensembl	human	known	74_37	missense	44.90		SNP	0.838	T	66	80
TRAIP	10293	genome.wustl.edu	37	3	49869411	49869411	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:49869411G>A	ENST00000331456.2	-	11	1088	c.975C>T	c.(973-975)ccC>ccT	p.P325P	TRAIP_ENST00000469027.1_Silent_p.P170P	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	325	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCGGGCTGGGGGAGTATCCA	0.552													ENSG00000183763																																					0													82.0	88.0	86.0					3																	49869411		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.975C>T	3.37:g.49869411G>A			B5BU84|B5BUL3|O00467	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.P325	ENST00000331456.2	37	c.975	CCDS2806.1	3																																																																																			-	TRAIP	-	NULL		0.552	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	HGNC	protein_coding	OTTHUMT00000350518.1	0	0		31	31		0.00		G	NM_005879		49869411	-1	15		31		tier1	no_errors	ENST00000331456	ensembl	human	known	74_37	silent	32.61		SNP	0.011	A	15	31
OR5D18	219438	genome.wustl.edu	37	11	55587671	55587671	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:55587671C>T	ENST00000333976.4	+	1	586	c.566C>T	c.(565-567)tCt>tTt	p.S189F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCTCCCTTTCTTGCTCTGAT	0.403													ENSG00000186119																																					0													204.0	183.0	190.0					11																	55587671		2200	4296	6496	SO:0001583	missense	0			-	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.566C>T	11.37:g.55587671C>T	ENSP00000335025:p.Ser189Phe		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S189F	ENST00000333976.4	37	c.566	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631908	0.29068	.	.	ENSG00000186119	ENST00000333976	T	0.00299	8.22	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001757	T	0.00875	0.0029	M	0.92077	3.27	0.20563	N	0.999885	D	0.89917	1.0	D	0.79108	0.992	T	0.23154	-1.0196	10	0.87932	D	0	-31.3399	11.6438	0.51249	0.0:0.9121:0.0:0.0879	.	189	Q8NGL1	OR5DI_HUMAN	F	189	ENSP00000335025:S189F	ENSP00000335025:S189F	S	+	2	0	OR5D18	55344247	0.002000	0.14202	0.545000	0.28153	0.073000	0.16967	1.696000	0.37773	2.462000	0.83206	0.567000	0.79289	TCT	-	OR5D18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.403	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	0	0		51	51		0.00		C	NM_001001952		55587671	+1	15		38		tier1	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	28.30		SNP	0.430	T	15	38
ZNF287	57336	genome.wustl.edu	37	17	16470890	16470890	+	Silent	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:16470890A>G	ENST00000395824.1	-	2	773	c.156T>C	c.(154-156)ttT>ttC	p.F52F	ZNF287_ENST00000461555.1_5'Flank|ZNF287_ENST00000395825.3_Silent_p.F52F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	45	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GAAAATTCCTAAAATTCTGTC	0.483													ENSG00000141040																																					0													78.0	79.0	79.0					17																	16470890		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.156T>C	17.37:g.16470890A>G			Q6IAG1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F52	ENST00000395824.1	37	c.156	CCDS11179.2	17																																																																																			-	ZNF287	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.483	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	0	0		53	53		0.00		A			16470890	-1	14		50		tier1	no_errors	ENST00000395824	ensembl	human	known	74_37	silent	21.88		SNP	0.997	G	14	50
CGRRF1	10668	genome.wustl.edu	37	14	55004467	55004467	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:55004467C>T	ENST00000216420.7	+	5	730	c.598C>T	c.(598-600)Cct>Tct	p.P200S	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	200					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GATTCATATTCCTGATAGGAC	0.303													ENSG00000100532																																					0													77.0	75.0	76.0					14																	55004467		2202	4297	6499	SO:0001583	missense	0			-	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.598C>T	14.37:g.55004467C>T	ENSP00000216420:p.Pro200Ser		Q96BX2	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.P200S	ENST00000216420.7	37	c.598	CCDS9719.1	14	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638361	0.67130	.	.	ENSG00000100532	ENST00000216420	T	0.27402	1.67	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.47315	-0.9127	10	0.44086	T	0.13	-14.6941	20.4324	0.99085	0.0:1.0:0.0:0.0	.	200;200	B2RCX4;Q99675	.;CGRF1_HUMAN	S	200	ENSP00000216420:P200S	ENSP00000216420:P200S	P	+	1	0	CGRRF1	54074217	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.253000	0.78320	2.833000	0.97629	0.585000	0.79938	CCT	-	CGRRF1	-	NULL		0.303	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGRRF1	HGNC	protein_coding	OTTHUMT00000276905.2	0	0		59	59		0.00		C	NM_006568		55004467	+1	8		23		tier1	no_errors	ENST00000216420	ensembl	human	known	74_37	missense	25.81		SNP	1.000	T	8	23
KRBA1	84626	genome.wustl.edu	37	7	149425632	149425632	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149425632C>T	ENST00000485033.2	+	11	1493	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	KRBA1_ENST00000255992.10_Missense_Mutation_p.S498F|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.S498F			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	561										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGAAGCTCCCCACTGCAG	0.577													ENSG00000133619																																					0													127.0	139.0	135.0					7																	149425632		1988	4162	6150	SO:0001583	missense	0			-	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1493C>T	7.37:g.149425632C>T	ENSP00000420112:p.Ser498Phe		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.S498F	ENST00000485033.2	37	c.1493		7	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345072	0.61073	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.52057	0.68;0.92;0.92	4.72	4.72	0.59763	.	0.000000	0.39834	N	0.001242	T	0.57080	0.2029	L	0.34521	1.04	0.37384	D	0.912182	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65183	-0.6230	10	0.72032	D	0.01	-28.8039	13.1958	0.59738	0.0:1.0:0.0:0.0	.	498;498	E7ENE9;A5PL33	.;KRBA1_HUMAN	F	498	ENSP00000255992:S498F;ENSP00000317165:S498F;ENSP00000420112:S498F	ENSP00000255992:S498F	S	+	2	0	KRBA1	149056565	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.409000	0.34680	2.158000	0.67659	0.655000	0.94253	TCC	-	KRBA1	-	NULL		0.577	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	0	0		59	59		0.00		C	NM_032534		149425632	+1	8		58		tier1	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	12.12		SNP	1.000	T	8	58
OR2Z1	284383	genome.wustl.edu	37	19	8842041	8842041	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8842041C>T	ENST00000324060.2	+	1	726	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	217						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						TCGCCACCTCCTACGGCCACG	0.587													ENSG00000181733																																					0													107.0	89.0	95.0					19																	8842041		2203	4300	6503	SO:0001819	synonymous_variant	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.651C>T	19.37:g.8842041C>T			B9EH50|Q6IFK0|Q96R25	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217	ENST00000324060.2	37	c.651	CCDS32895.1	19																																																																																			-	OR2Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.587	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1	0	0		27	27		0.00		C			8842041	+1	11		31		tier1	no_errors	ENST00000324060	ensembl	human	known	74_37	silent	26.19		SNP	1.000	T	11	31
TJP2	9414	genome.wustl.edu	37	9	71844120	71844120	+	Missense_Mutation	SNP	C	C	T	rs267602261		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:71844120C>T	ENST00000377245.4	+	10	1682	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S	TJP2_ENST00000348208.4_Missense_Mutation_p.P492S|TJP2_ENST00000265384.7_Missense_Mutation_p.P492S|TJP2_ENST00000539225.1_Missense_Mutation_p.P523S|TJP2_ENST00000535702.1_Missense_Mutation_p.P496S|TJP2_ENST00000453658.2_Missense_Mutation_p.P469S	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	492					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAAGCAGCCCCGAGAACTTT	0.403													ENSG00000119139																																					0													206.0	192.0	196.0					9																	71844120		2203	4300	6503	SO:0001583	missense	0			-	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1474C>T	9.37:g.71844120C>T	ENSP00000366453:p.Pro492Ser		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens	p.P523S	ENST00000377245.4	37	c.1567	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024865	0.35701	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.10763	2.86;2.84;2.86;2.85;2.86;2.88	5.85	4.94	0.65067	PDZ/DHR/GLGF (1);	0.192462	0.45867	N	0.000339	T	0.07908	0.0198	N	0.21142	0.635	0.50467	D	0.999871	B;B;B;B;B	0.21452	0.01;0.009;0.006;0.056;0.035	B;B;B;B;B	0.20767	0.007;0.02;0.015;0.031;0.023	T	0.28618	-1.0038	10	0.27082	T	0.32	.	11.0386	0.47816	0.1354:0.7956:0.0:0.069	.	523;496;492;492;492	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	S	469;492;492;492;496;523	ENSP00000392178:P469S;ENSP00000366453:P492S;ENSP00000345893:P492S;ENSP00000265384:P492S;ENSP00000442090:P496S;ENSP00000438262:P523S	ENSP00000265384:P492S	P	+	1	0	TJP2	71033940	0.465000	0.25815	0.256000	0.24389	0.965000	0.64279	1.198000	0.32223	1.449000	0.47699	0.557000	0.71058	CCG	-	TJP2	-	superfamily_PDZ		0.403	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	0	0		163	163		0.00		C	NM_201629		71844120	+1	60		86		tier1	no_errors	ENST00000539225	ensembl	human	known	74_37	missense	40.82		SNP	0.896	T	60	86
LRRC56	115399	genome.wustl.edu	37	11	540690	540690	+	Missense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:540690T>A	ENST00000270115.7	+	4	506	c.6T>A	c.(4-6)gaT>gaA	p.D2E		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	2										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGAATGGATCTGGGCTGGG	0.657													ENSG00000161328																																					0													47.0	48.0	48.0					11																	540690		2203	4300	6503	SO:0001583	missense	0			-		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.6T>A	11.37:g.540690T>A	ENSP00000270115:p.Asp2Glu		Q8N3Q4	Missense_Mutation	SNP	NULL	p.D2E	ENST00000270115.7	37	c.6	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	N	8.392	0.840051	0.16891	.	.	ENSG00000161328	ENST00000270115	T	0.13307	2.6	4.88	0.48	0.16804	.	0.111898	0.39475	N	0.001349	T	0.09730	0.0239	L	0.60455	1.87	0.18873	N	0.999981	B	0.33528	0.416	B	0.23018	0.043	T	0.25047	-1.0143	10	0.27785	T	0.31	8.0623	5.8868	0.18886	0.0:0.5026:0.1305:0.3669	.	2	Q8IYG6	LRC56_HUMAN	E	2	ENSP00000270115:D2E	ENSP00000270115:D2E	D	+	3	2	LRRC56	530690	0.001000	0.12720	0.909000	0.35828	0.015000	0.08874	-0.752000	0.04797	-0.093000	0.12396	-0.934000	0.02701	GAT	-	LRRC56	-	NULL		0.657	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	0	0		39	39		0.00		T	NM_198075		540690	+1	38		47		tier1	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	44.71		SNP	0.189	A	38	47
SLC15A5	729025	genome.wustl.edu	37	12	16377443	16377443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:16377443G>T	ENST00000344941.3	-	6	1255	c.1256C>A	c.(1255-1257)tCa>tAa	p.S419*		NM_001170798.1	NP_001164269.1	A6NIM6	S15A5_HUMAN	solute carrier family 15, member 5	419					peptide transport (GO:0015833)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(2)|lung(1)	3						AACTTTTCCTGAAAGGGGCTG	0.463													ENSG00000188991																																					0													68.0	62.0	64.0					12																	16377443		692	1591	2283	SO:0001587	stop_gained	0			-			12p12.3	2013-07-18			ENSG00000188991	ENSG00000188991		"""Solute carriers"""	33455	protein-coding gene	gene with protein product						21044875	Standard	NM_001170798		Approved		uc021qvs.1	A6NIM6	OTTHUMG00000168793	ENST00000344941.3:c.1256C>A	12.37:g.16377443G>T	ENSP00000340402:p.Ser419*			Nonsense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt	p.S419*	ENST00000344941.3	37	c.1256		12	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561159	0.86335	.	.	ENSG00000188991	ENST00000344941	.	.	.	4.94	1.1	0.20463	.	0.203577	0.43416	D	0.000561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	9.5352	0.39218	0.2876:0.0:0.7124:0.0	.	.	.	.	X	419	.	ENSP00000340402:S419X	S	-	2	0	SLC15A5	16268710	1.000000	0.71417	0.579000	0.28588	0.546000	0.35178	3.312000	0.51927	0.031000	0.15407	-0.225000	0.12378	TCA	-	SLC15A5	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt		0.463	SLC15A5-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	SLC15A5	HGNC	protein_coding	OTTHUMT00000401119.2	0	0		51	51		0.00		G	XM_001129090		16377443	-1	32		40		tier1	no_errors	ENST00000344941	ensembl	human	novel	74_37	nonsense	44.44		SNP	0.958	T	32	40
RNASE10	338879	genome.wustl.edu	37	14	20978976	20978976	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr14:20978976G>A	ENST00000328444.5	+	1	365	c.346G>A	c.(346-348)Gat>Aat	p.D116N	RNASE10_ENST00000430083.1_Missense_Mutation_p.D144N	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	116					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TGACCAGACAGATAGAGAATG	0.463													ENSG00000182545																																					0													103.0	84.0	90.0					14																	20978976		2203	4300	6503	SO:0001583	missense	0			-		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"""Ribonucleases, RNase A"""	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.346G>A	14.37:g.20978976G>A	ENSP00000333358:p.Asp116Asn		A2RUQ3|B4DKY4	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.D116N	ENST00000328444.5	37	c.346	CCDS32035.1	14	.	.	.	.	.	.	.	.	.	.	G	1.136	-0.651063	0.03506	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.72394	-0.65;-0.65	4.82	-2.39	0.06602	Ribonuclease A, domain (3);	1.892680	0.02295	N	0.070624	T	0.52354	0.1729	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21449	-1.0245	10	0.21540	T	0.41	-1.1419	4.2778	0.10818	0.2644:0.0:0.3886:0.347	.	116;144	Q5GAN6;B4DKY4	RNS10_HUMAN;.	N	144;116	ENSP00000392996:D144N;ENSP00000333358:D116N	ENSP00000333358:D116N	D	+	1	0	RNASE10	20048816	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	-1.076000	0.03420	-0.250000	0.09555	0.655000	0.94253	GAT	-	RSE10	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.463	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSE10	HGNC	protein_coding	OTTHUMT00000411088.1	0	0		18	18		0.00		G	XM_292225		20978976	+1	9		28		tier1	no_errors	ENST00000328444	ensembl	human	known	74_37	missense	24.32		SNP	0.000	A	9	28
TENM1	10178	genome.wustl.edu	37	X	123699273	123699273	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:123699273C>T	ENST00000371130.3	-	12	2278	c.2215G>A	c.(2215-2217)Gga>Aga	p.G739R	TENM1_ENST00000422452.2_Missense_Mutation_p.G739R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	739	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										TCACATTTTCCATCTTTGCAT	0.458													ENSG00000009694																																					0													176.0	123.0	141.0					X																	123699273		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.2215G>A	X.37:g.123699273C>T	ENSP00000360171:p.Gly739Arg		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.G739R	ENST00000371130.3	37	c.2215	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539278	0.85917	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.25749	1.78;1.78	5.75	5.75	0.90469	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.993	T	0.72666	-0.4224	10	0.87932	D	0	.	19.1633	0.93543	0.0:1.0:0.0:0.0	.	738;739;739	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	739	ENSP00000360171:G739R;ENSP00000403954:G739R	ENSP00000360171:G739R	G	-	1	0	ODZ1	123526954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.562000	0.86427	0.600000	0.82982	GGA	-	TENM1	-	pfam_EGF_extracell,smart_EG-like_dom		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	0	0		32	32		0.00		C	NM_014253		123699273	-1	29		9		tier1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	76.32		SNP	1.000	T	29	9
ITGBL1	9358	genome.wustl.edu	37	13	102227890	102227890	+	Missense_Mutation	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:102227890A>G	ENST00000376180.3	+	4	798	c.579A>G	c.(577-579)atA>atG	p.I193M	ITGBL1_ENST00000376162.3_Missense_Mutation_p.I100M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.I52M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	193	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGAAGAAATATGTGGAGGTA	0.343													ENSG00000198542																																					0													186.0	178.0	181.0					13																	102227890		2203	4300	6503	SO:0001583	missense	0			-	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.579A>G	13.37:g.102227890A>G	ENSP00000365351:p.Ile193Met		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.I193M	ENST00000376180.3	37	c.579	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300716	0.40694	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92911	-3.13;-3.13;-3.13	6.17	2.35	0.29111	EGF, extracellular (1);	0.219650	0.51477	D	0.000094	D	0.90448	0.7009	L	0.35414	1.06	0.39670	D	0.970745	D;B	0.56746	0.977;0.013	D;B	0.70227	0.968;0.091	D	0.86749	0.1959	10	0.52906	T	0.07	.	0.9814	0.01437	0.4278:0.144:0.1116:0.3167	.	52;193	B3KTP1;O95965	.;ITGBL_HUMAN	M	193;101;52;52;100	ENSP00000365351:I193M;ENSP00000439903:I52M;ENSP00000365332:I100M	ENSP00000365332:I100M	I	+	3	3	ITGBL1	101025891	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.332000	0.19751	0.500000	0.27991	0.533000	0.62120	ATA	-	ITGBL1	-	pfam_EGF_extracell,smart_EG-like_dom		0.343	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	0	0		100	100		0.00		A	NM_004791		102227890	+1	29		68		tier1	no_errors	ENST00000376180	ensembl	human	known	74_37	missense	29.90		SNP	1.000	G	29	68
CLCA3P	9629	genome.wustl.edu	37	1	87113082	87113082	+	RNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:87113082C>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							GTGGCAGCATCTCTCAGCAGG	0.323													ENSG00000153923																																					0																																												0			-																													1.37:g.87113082C>T				R	SNP	-	NULL	ENST00000456587.1	37	NULL		1																																																																																			-	CLCA3P	-	-		0.323	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	CLCA3P	HGNC	antisense	OTTHUMT00000028263.1	0	0		113	113		0.00		C			87113082	+1	42		89		tier1	no_errors	ENST00000284054	ensembl	human	known	74_37	rna	31.82		SNP	0.431	T	42	89
CEP70	80321	genome.wustl.edu	37	3	138219583	138219583	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:138219583C>T	ENST00000264982.3	-	14	1628	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	CEP70_ENST00000481834.1_Silent_p.K454K|CEP70_ENST00000542237.1_Silent_p.K434K|CEP70_ENST00000484888.1_Silent_p.K454K|CEP70_ENST00000489254.1_Silent_p.K302K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	454					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTACCTTTTCCTTATTTTCAA	0.308													ENSG00000114107																																					0													113.0	124.0	120.0					3																	138219583		2203	4298	6501	SO:0001819	synonymous_variant	0			-	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1362G>A	3.37:g.138219583C>T			B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K454	ENST00000264982.3	37	c.1362	CCDS3102.1	3																																																																																			-	CEP70	-	NULL		0.308	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	0	0		23	23		0.00		C	NM_024491		138219583	-1	17		27		tier1	no_errors	ENST00000264982	ensembl	human	known	74_37	silent	38.64		SNP	0.981	T	17	27
CSMD3	114788	genome.wustl.edu	37	8	113358374	113358374	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113358374G>A	ENST00000297405.5	-	41	6638	c.6394C>T	c.(6394-6396)Ccc>Tcc	p.P2132S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2092S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2028S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2062S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2132	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						AAACTGCTGGGATAGTTTCCA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			ENSG00000164796																																					0													114.0	116.0	115.0					8																	113358374		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.6394C>T	8.37:g.113358374G>A	ENSP00000297405:p.Pro2132Ser		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.P2132S	ENST00000297405.5	37	c.6394	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.224466	0.95139	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.54	5.54	0.83059	CUB (5);	0.164766	0.41396	D	0.000894	T	0.60431	0.2268	M	0.83118	2.625	0.80722	D	1	P;P;D	0.89917	0.951;0.537;1.0	P;B;D	0.97110	0.767;0.216;1.0	T	0.55711	-0.8098	10	0.30078	T	0.28	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	2028;2132;2092	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2092;2132;1402;2028;2062	ENSP00000345799:P2092S;ENSP00000297405:P2132S;ENSP00000341558:P1402S;ENSP00000412263:P2028S;ENSP00000343124:P2062S	ENSP00000297405:P2132S	P	-	1	0	CSMD3	113427550	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.612000	0.98347	2.880000	0.98712	0.650000	0.86243	CCC	-	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	0	0		48	48		0.00		G	NM_052900		113358374	-1	16		50		tier1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	24.24		SNP	1.000	A	16	50
CCDC125	202243	genome.wustl.edu	37	5	68578736	68578736	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:68578736G>A	ENST00000396496.2	-	12	1463	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Silent_p.F452F|CCDC125_ENST00000383374.2_3'UTR|CCDC125_ENST00000511257.1_Silent_p.F327F			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	452						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGTTGAAAGGGAAATTCTCTT	0.383													ENSG00000183323																																					0													119.0	119.0	119.0					5																	68578736		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1356C>T	5.37:g.68578736G>A			Q86Z19	Silent	SNP	NULL	p.F452	ENST00000396496.2	37	c.1356	CCDS4000.1	5																																																																																			-	CCDC125	-	NULL		0.383	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC125	HGNC	protein_coding	OTTHUMT00000254027.4	0	0		56	56		0.00		G	NM_176816		68578736	-1	29		65		tier1	no_errors	ENST00000396496	ensembl	human	known	74_37	silent	30.53		SNP	0.000	A	29	65
CCKBR	887	genome.wustl.edu	37	11	6291073	6291073	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:6291073C>T	ENST00000334619.2	+	2	519	c.326C>T	c.(325-327)cCc>cTc	p.P109L	CCKBR_ENST00000525014.1_Missense_Mutation_p.P109L|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Missense_Mutation_p.P109L	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	109					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTGCATGCCCTTCACCCTC	0.602													ENSG00000110148																																					0													120.0	93.0	102.0					11																	6291073		2201	4296	6497	SO:0001583	missense	0			-	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.326C>T	11.37:g.6291073C>T	ENSP00000335544:p.Pro109Leu		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.P109L	ENST00000334619.2	37	c.326	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389850	0.82902	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.47177	0.85;0.85;0.85	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80867	-0.1190	10	0.87932	D	0	.	16.6268	0.84972	0.0:1.0:0.0:0.0	.	109;43;109	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	L	109	ENSP00000335544:P109L;ENSP00000437001:P109L;ENSP00000435534:P109L	ENSP00000335544:P109L	P	+	2	0	CCKBR	6247649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.508000	0.84585	0.557000	0.71058	CCC	-	CCKBR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	0	0		21	21		0.00		C	NM_176875		6291073	+1	11		13		tier1	no_errors	ENST00000525462	ensembl	human	known	74_37	missense	45.83		SNP	1.000	T	11	13
ZNF277	11179	genome.wustl.edu	37	7	111927053	111927053	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:111927053G>A	ENST00000361822.3	+	2	346	c.217G>A	c.(217-219)Gac>Aac	p.D73N	RN7SKP187_ENST00000365536.1_RNA|ZNF277_ENST00000450657.1_Missense_Mutation_p.D73N|ZNF277_ENST00000421043.1_Missense_Mutation_p.D73N	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	73					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGCTGAACAAGACAAACTTCT	0.413													ENSG00000198839																																					0													159.0	150.0	153.0					7																	111927053		2203	4300	6503	SO:0001583	missense	0			-	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.217G>A	7.37:g.111927053G>A	ENSP00000354501:p.Asp73Asn		Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D73N	ENST00000361822.3	37	c.217	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231924	0.58777	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	T;T;T	0.44881	0.91;0.91;0.91	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);	0.093034	0.64402	D	0.000001	T	0.32194	0.0821	L	0.41236	1.265	0.53005	D	0.999961	B;B	0.33777	0.026;0.425	B;B	0.30943	0.022;0.122	T	0.08932	-1.0698	10	0.33940	T	0.23	-22.4453	10.7431	0.46164	0.1154:0.0:0.8846:0.0	.	73;73	Q9NRM2;G5E9M4	ZN277_HUMAN;.	N	73	ENSP00000354501:D73N;ENSP00000390359:D73N;ENSP00000402292:D73N	ENSP00000354501:D73N	D	+	1	0	ZNF277	111714289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.358000	0.59442	2.665000	0.90641	0.650000	0.86243	GAC	-	ZNF277	-	smart_Znf_C2H2-like		0.413	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	0	0		73	73		0.00		G	NM_021994		111927053	+1	21		56		tier1	no_errors	ENST00000361822	ensembl	human	known	74_37	missense	27.27		SNP	1.000	A	21	56
SHBG	6462	genome.wustl.edu	37	17	7533563	7533563	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7533563C>T	ENST00000380450.4	+	1	104	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	SHBG_ENST00000416273.3_Missense_Mutation_p.R25C|SHBG_ENST00000572182.1_Intron|SAT2_ENST00000269298.5_5'Flank|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000573566.1_5'Flank|SAT2_ENST00000380466.2_5'Flank|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000441599.2_Missense_Mutation_p.R25C|SHBG_ENST00000575903.1_Missense_Mutation_p.R25C|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000570547.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	25			R -> H (in dbSNP:rs6260). {ECO:0000269|PubMed:10391209}.		primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.R25C(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	gcGTCACACCCGCCAGGGATG	0.627													ENSG00000129214																																					2	Substitution - Missense(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											65.0	52.0	56.0					17																	7533563		2203	4300	6503	SO:0001583	missense	0			-		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.73C>T	17.37:g.7533563C>T	ENSP00000369816:p.Arg25Cys		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.R25C	ENST00000380450.4	37	c.73	CCDS11117.1	17	.	.	.	.	.	.	.	.	.	.	C	8.426	0.847487	0.17034	.	.	ENSG00000129214	ENST00000441599;ENST00000416273;ENST00000441313;ENST00000452698;ENST00000380450	T;T;T	0.78595	-1.19;-1.19;-1.19	4.32	2.18	0.27775	.	0.418679	0.21026	U	0.081427	T	0.51483	0.1677	N	0.08118	0	0.09310	N	0.999999	P;P;P;P;B	0.49447	0.924;0.876;0.733;0.482;0.267	B;B;B;B;B	0.39152	0.292;0.153;0.17;0.011;0.007	T	0.47355	-0.9124	10	0.37606	T	0.19	-0.6594	5.5055	0.16852	0.0:0.7412:0.0:0.2588	.	25;25;25;25;25	F5H5Z8;E9PH59;E9PGW1;E9PGQ3;P04278	.;.;.;.;SHBG_HUMAN	C	25	ENSP00000393426:R25C;ENSP00000388867:R25C;ENSP00000369816:R25C	ENSP00000369816:R25C	R	+	1	0	SHBG	7474288	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.755000	0.26405	1.056000	0.40484	-0.215000	0.12644	CGC	-	SHBG	-	NULL		0.627	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHBG	HGNC	protein_coding	OTTHUMT00000226957.2	0	0		22	22		0.00		C	NM_001040		7533563	+1	17		33		tier1	no_errors	ENST00000380450	ensembl	human	known	74_37	missense	34.00		SNP	0.001	T	17	33
SLC12A8	84561	genome.wustl.edu	37	3	124839624	124839624	+	Intron	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:124839624C>T	ENST00000393469.4	-	6	786				SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Missense_Mutation_p.G16R|RNU6-230P_ENST00000362457.1_RNA|SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Intron	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8						potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						GGACCCTCTCCTGGAAGCTGT	0.622													ENSG00000221955																																					0													49.0	52.0	51.0					3																	124839624		692	1591	2283	SO:0001627	intron_variant	0			-		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.737-94G>A	3.37:g.124839624C>T			C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom	p.G16R	ENST00000393469.4	37	c.46	CCDS43143.1	3	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738599	0.30774	.	.	ENSG00000221955	ENST00000430155	D	0.86030	-2.06	5.3	4.43	0.53597	.	.	.	.	.	T	0.80110	0.4563	.	.	.	0.58432	D	0.999999	B	0.24533	0.105	B	0.23150	0.044	T	0.77616	-0.2521	8	0.66056	D	0.02	.	10.2081	0.43124	0.0:0.9081:0.0:0.0919	.	16	A0AV02-3	.	R	16	ENSP00000415713:G16R	ENSP00000415713:G16R	G	-	1	0	SLC12A8	126322314	0.121000	0.22262	0.887000	0.34795	0.051000	0.14879	0.999000	0.29757	1.374000	0.46228	-0.136000	0.14681	GGA	-	SLC12A8	-	NULL		0.622	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	0	0		48	48		0.00		C	NM_024628		124839624	-1	23		55		tier1	no_errors	ENST00000430155	ensembl	human	known	74_37	missense	29.49		SNP	0.652	T	23	55
SVEP1	79987	genome.wustl.edu	37	9	113244719	113244719	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:113244719C>T	ENST00000401783.2	-	11	2428	c.2092G>A	c.(2092-2094)Ggg>Agg	p.G698R	SVEP1_ENST00000374469.1_Missense_Mutation_p.G675R|SVEP1_ENST00000374461.1_Missense_Mutation_p.G675R|SVEP1_ENST00000302728.8_Missense_Mutation_p.G698R|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	698	HYR 2. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATAGTCTCCCCTTGAGGGAAA	0.423													ENSG00000165124																																					0													104.0	96.0	98.0					9																	113244719		1901	4134	6035	SO:0001583	missense	0			-	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2092G>A	9.37:g.113244719C>T	ENSP00000384917:p.Gly698Arg		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.G698R	ENST00000401783.2	37	c.2092	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989804	0.93106	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.83	5.83	0.93111	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	M	0.93939	3.475	0.50632	D	0.999883	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.85073	0.0941	10	0.72032	D	0.01	.	20.1316	0.98000	0.0:1.0:0.0:0.0	.	698;698;698	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	R	698;675;698;675	ENSP00000384917:G698R;ENSP00000363593:G675R;ENSP00000304118:G698R;ENSP00000363585:G675R	ENSP00000304118:G698R	G	-	1	0	SVEP1	112284540	1.000000	0.71417	0.969000	0.41365	0.953000	0.61014	6.489000	0.73641	2.766000	0.95052	0.650000	0.86243	GGG	-	SVEP1	-	pfam_Hyalin,pfscan_Hyalin		0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		0	0		51	51		0.00		C			113244719	-1	30		64		tier1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	31.91		SNP	0.999	T	30	64
HRNR	388697	genome.wustl.edu	37	1	152185643	152185643	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:152185643C>T	ENST00000368801.2	-	3	8537	c.8462G>A	c.(8461-8463)gGg>gAg	p.G2821E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2821					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)			AGAACTTCCCCCATCATGGTT	0.443													ENSG00000197915																																					0													74.0	77.0	76.0					1																	152185643		2203	4300	6503	SO:0001583	missense	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.8462G>A	1.37:g.152185643C>T	ENSP00000357791:p.Gly2821Glu		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G2821E	ENST00000368801.2	37	c.8462	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	6.089	0.384667	0.11524	.	.	ENSG00000197915	ENST00000368801	T	0.02525	4.26	4.56	0.311	0.15831	.	.	.	.	.	T	0.00552	0.0018	N	0.14661	0.345	0.09310	N	1	B	0.26744	0.158	B	0.22152	0.038	T	0.46205	-0.9208	9	0.35671	T	0.21	.	3.5149	0.07721	0.3627:0.4398:0.0:0.1975	.	2821	Q86YZ3	HORN_HUMAN	E	2821	ENSP00000357791:G2821E	ENSP00000357791:G2821E	G	-	2	0	HRNR	150452267	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.544000	0.06077	-0.033000	0.13736	-0.258000	0.10820	GGG	-	HRNR	-	NULL		0.443	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	0	0		67	67		0.00		C	XM_373868		152185643	-1	20		89		tier1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	18.35		SNP	0.000	T	20	89
TCEAL5	340543	genome.wustl.edu	37	X	102529111	102529111	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:102529111G>A	ENST00000372680.1	-	3	675	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AGTCCTTGGGGGAATCGTCCG	0.562													ENSG00000204065																																					0													162.0	142.0	148.0					X																	102529111		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.381C>T	X.37:g.102529111G>A			A2RUJ4	Silent	SNP	pfam_TF_A-like/BEX-like	p.S127	ENST00000372680.1	37	c.381	CCDS35356.1	X																																																																																			-	TCEAL5	-	pfam_TF_A-like/BEX-like		0.562	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL5	HGNC	protein_coding	OTTHUMT00000057696.1	0	0		45	45		0.00		G	XM_291334		102529111	-1	38		15		tier1	no_errors	ENST00000372680	ensembl	human	known	74_37	silent	71.70		SNP	0.004	A	38	15
ZBBX	79740	genome.wustl.edu	37	3	167068246	167068246	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:167068246T>A	ENST00000392766.2	-	9	830	c.490A>T	c.(490-492)Aaa>Taa	p.K164*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.K135*|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.K164*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.K164*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.K164*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	164						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGTGCCCCTTTCTGGTGAACT	0.308													ENSG00000169064																																					0													179.0	175.0	177.0					3																	167068246		1815	4077	5892	SO:0001587	stop_gained	0			-	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.490A>T	3.37:g.167068246T>A	ENSP00000376519:p.Lys164*		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	pfam_Znf_B-box	p.K164*	ENST00000392766.2	37	c.490	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	T	34	5.378227	0.95945	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	5.54	5.54	0.83059	.	0.000000	0.33457	U	0.004886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1529	13.6397	0.62243	0.0:0.0:0.0:1.0	.	.	.	.	X	164;164;164;164;135	.	ENSP00000305065:K164X	K	-	1	0	ZBBX	168550940	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.233000	0.65337	2.101000	0.63845	0.377000	0.23210	AAA	-	ZBBX	-	pfam_Znf_B-box		0.308	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	0	0		97	97		0.00		T	NM_024687		167068246	-1	48		90		tier1	no_errors	ENST00000307529	ensembl	human	known	74_37	nonsense	34.78		SNP	1.000	A	48	90
WNT2	7472	genome.wustl.edu	37	7	116918431	116918431	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:116918431C>T	ENST00000265441.3	-	5	1160	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	287					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCTGTACCCAGGGAGCCTG	0.582													ENSG00000105989																																					0													36.0	30.0	32.0					7																	116918431		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.861G>A	7.37:g.116918431C>T			A4D0V1|Q75N05|Q9UDP9	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.L287	ENST00000265441.3	37	c.861	CCDS5771.1	7																																																																																			-	WNT2	-	pfam_Wnt,smart_Wnt		0.582	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2	HGNC	protein_coding	OTTHUMT00000059749.3	0	0		18	18		0.00		C	NM_003391		116918431	-1	9		19		tier1	no_errors	ENST00000265441	ensembl	human	known	74_37	silent	32.14		SNP	1.000	T	9	19
SLC3A2	6520	genome.wustl.edu	37	11	62622959	62622959	+	5'Flank	SNP	A	A	G			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:62622959A>G	ENST00000377890.2	+	0	0				SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000384706.1_RNA|SLC3A2_ENST00000377891.2_5'Flank|SLC3A2_ENST00000377892.1_5'Flank|SLC3A2_ENST00000535296.1_5'Flank|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000384756.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000516331.1_RNA|SNHG1_ENST00000383926.1_RNA|SLC3A2_ENST00000377889.2_5'Flank|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000384693.1_RNA	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAGCCCAATAAGACATTAGGT	0.468													ENSG00000255717																																					0																																										SO:0001631	upstream_gene_variant	0			-		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091		11.37:g.62622959A>G	Exception_encountered		Q13543	R	SNP	-	NULL	ENST00000377890.2	37	NULL	CCDS8039.2	11																																																																																			-	SNHG1	-	-		0.468	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SNHG1	HGNC	protein_coding	OTTHUMT00000157306.1	0	0		25	25		0.00		A	NM_001012661		62622959	-1	11		16		tier1	no_errors	ENST00000537925	ensembl	human	known	74_37	rna	40.74		SNP	0.000	G	11	16
KCNK7	10089	genome.wustl.edu	37	11	65363171	65363171	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:65363171C>T	ENST00000340313.4	-	1	296	c.73G>A	c.(73-75)Gct>Act	p.A25T	KCNK7_ENST00000394217.2_Missense_Mutation_p.A25T|KCNK7_ENST00000342202.4_Missense_Mutation_p.A25T|KCNK7_ENST00000394216.2_Missense_Mutation_p.A25T	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	25					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						AACACCACAGCCCCAAGCCCC	0.677													ENSG00000173338																																					0													12.0	15.0	14.0					11																	65363171		2184	4287	6471	SO:0001583	missense	0			-	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.73G>A	11.37:g.65363171C>T	ENSP00000344820:p.Ala25Thr		Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK	p.A25T	ENST00000340313.4	37	c.73	CCDS31608.1	11	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210892	0.79240	.	.	ENSG00000173338	ENST00000342202;ENST00000394217;ENST00000394216;ENST00000340313	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.98	4.98	0.66077	.	0.000000	0.50627	D	0.000112	T	0.56645	0.1999	M	0.76002	2.32	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.61262	-0.7098	10	0.87932	D	0	.	16.1123	0.81271	0.0:1.0:0.0:0.0	.	25;25;25	Q9Y2U2-3;Q9Y2U2;Q9Y2U2-2	.;KCNK7_HUMAN;.	T	25	ENSP00000343923:A25T;ENSP00000377765:A25T;ENSP00000377764:A25T;ENSP00000344820:A25T	ENSP00000344820:A25T	A	-	1	0	KCNK7	65119747	1.000000	0.71417	0.964000	0.40570	0.255000	0.26057	2.201000	0.42734	2.470000	0.83445	0.655000	0.94253	GCT	-	KCNK7	-	pirsf_2pore_dom_K_chnl_TASK		0.677	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK7	HGNC	protein_coding	OTTHUMT00000390206.1	0	0		9	9		0.00		C	NM_005714		65363171	-1	9		9		tier1	no_errors	ENST00000340313	ensembl	human	known	74_37	missense	50.00		SNP	1.000	T	9	9
TACC2	10579	genome.wustl.edu	37	10	123996963	123996963	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:123996963C>T	ENST00000369005.1	+	17	8521	c.8181C>T	c.(8179-8181)tcC>tcT	p.S2727S	TACC2_ENST00000515603.1_Silent_p.S2605S|TACC2_ENST00000360561.3_Silent_p.S775S|TACC2_ENST00000453444.2_Silent_p.S2654S|TACC2_ENST00000368999.1_Silent_p.S817S|TACC2_ENST00000369004.3_Silent_p.S787S|TACC2_ENST00000260733.3_Silent_p.S805S|TACC2_ENST00000334433.3_Silent_p.S2727S|TACC2_ENST00000369001.1_Silent_p.S354S|TACC2_ENST00000358010.1_Silent_p.S873S|TACC2_ENST00000515273.1_Silent_p.S2654S|TACC2_ENST00000369000.1_Silent_p.S350S|TACC2_ENST00000513429.1_Silent_p.S873S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2727					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)				CCTTGTACTCCCGCATCGGGA	0.517													ENSG00000138162																																					0													54.0	54.0	54.0					10																	123996963		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8181C>T	10.37:g.123996963C>T			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.S2727	ENST00000369005.1	37	c.8181	CCDS7626.1	10																																																																																			-	TACC2	-	NULL		0.517	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	0	0		58	58		0.00		C			123996963	+1	10		47		tier1	no_errors	ENST00000334433	ensembl	human	known	74_37	silent	17.54		SNP	1.000	T	10	47
ZNF600	162966	genome.wustl.edu	37	19	53270681	53270681	+	Missense_Mutation	SNP	G	G	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:53270681G>T	ENST00000338230.3	-	3	595	c.328C>A	c.(328-330)Caa>Aaa	p.Q110K		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	110					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)	p.Q110E(1)		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)		TTCTCAAATTGATTACCAATT	0.383													ENSG00000189190																									Esophageal Squamous(196;1235 2112 2375 33339 34207)												1	Substitution - Missense(1)	breast(1)											152.0	152.0	152.0					19																	53270681		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.328C>A	19.37:g.53270681G>T	ENSP00000344791:p.Gln110Lys		Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q110K	ENST00000338230.3	37	c.328	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	11.90	1.776315	0.31411	.	.	ENSG00000189190	ENST00000338230	T	0.07908	3.15	1.71	-1.42	0.08913	.	.	.	.	.	T	0.17831	0.0428	M	0.81802	2.56	0.09310	N	1	P	0.40332	0.713	P	0.51742	0.678	T	0.17349	-1.0372	9	0.59425	D	0.04	.	3.7171	0.08442	0.0:0.2753:0.445:0.2797	.	110	Q6ZNG1	ZN600_HUMAN	K	110	ENSP00000344791:Q110K	ENSP00000344791:Q110K	Q	-	1	0	ZNF600	57962493	0.970000	0.33590	0.000000	0.03702	0.004000	0.04260	0.312000	0.19397	-0.416000	0.07473	0.298000	0.19748	CAA	-	ZNF600	-	NULL		0.383	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	0	0		84	84		0.00		G	NM_198457		53270681	-1	39		58		tier1	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	40.21		SNP	0.002	T	39	58
LOC100287792	100287792	genome.wustl.edu	37	20	36306734	36306734	+	lincRNA	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr20:36306734C>T	ENST00000373508.1	+	0	552					NR_040021.1																						ACAAATATTCCCTTCCAGTTC	0.507													ENSG00000204117																																					0																																												0			-																													20.37:g.36306734C>T				R	SNP	-	NULL	ENST00000373508.1	37	NULL		20																																																																																			-	RP4-640H8.2	-	-		0.507	RP4-640H8.2-001	KNOWN	basic	lincRNA	LOC100287792	Clone_based_vega_gene	lincRNA	OTTHUMT00000276667.1	0	0		22	22		0.00		C			36306734	+1	8		15		tier1	no_errors	ENST00000373508	ensembl	human	known	74_37	rna	34.78		SNP	0.020	T	8	15
AHCTF1	25909	genome.wustl.edu	37	1	247014708	247014708	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:247014708C>T	ENST00000391829.2	-	33	4723	c.4600G>A	c.(4600-4602)Gga>Aga	p.G1534R	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1543R|AHCTF1_ENST00000366508.1_Missense_Mutation_p.G1569R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1534	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCCTCTTCTCCTGAATCTTGA	0.323													ENSG00000153207																									Colon(145;197 1800 4745 15099 26333)												0													28.0	28.0	28.0					1																	247014708		2199	4299	6498	SO:0001583	missense	0			-		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4600G>A	1.37:g.247014708C>T	ENSP00000375705:p.Gly1534Arg		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.G1543R	ENST00000391829.2	37	c.4627		1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500057	0.44455	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.31769	1.48;1.48;1.48	6.08	5.17	0.71159	.	0.417958	0.22825	N	0.055180	T	0.27169	0.0666	L	0.51422	1.61	0.26958	N	0.965873	B;B;B	0.31548	0.328;0.061;0.036	B;B;B	0.25291	0.059;0.023;0.01	T	0.11842	-1.0571	10	0.27082	T	0.32	-3.1679	13.4679	0.61266	0.0:0.9284:0.0:0.0716	.	395;1569;1534	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	R	1569;1543;1534	ENSP00000355464:G1569R;ENSP00000355465:G1543R;ENSP00000375705:G1534R	ENSP00000355465:G1543R	G	-	1	0	AHCTF1	245081331	0.998000	0.40836	0.920000	0.36463	0.753000	0.42808	2.531000	0.45650	1.589000	0.49982	0.591000	0.81541	GGA	-	AHCTF1	-	NULL		0.323	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		0	0		95	95		0.00		C	NM_015446		247014708	-1	28		109		tier1	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	20.44		SNP	0.985	T	28	109
ZBTB11	27107	genome.wustl.edu	37	3	101375072	101375072	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr3:101375072G>A	ENST00000312938.4	-	7	2647	c.2067C>T	c.(2065-2067)atC>atT	p.I689I		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	689					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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CATGCTTATAGATAAAAGTCT	0.358													ENSG00000066422																																					0													80.0	78.0	79.0					3																	101375072		2203	4299	6502	SO:0001819	synonymous_variant	0			-	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2067C>T	3.37:g.101375072G>A			Q2NKP9	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.I689	ENST00000312938.4	37	c.2067	CCDS2943.1	3																																																																																			-	ZBTB11	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	0	0		94	94		0.00		G	NM_014415		101375072	-1	22		71		tier1	no_errors	ENST00000312938	ensembl	human	known	74_37	silent	23.66		SNP	0.999	A	22	71
CDHR1	92211	genome.wustl.edu	37	10	85978855	85978855	+	IGR	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:85978855G>A	ENST00000372117.3	+	0	5428				CDHR1_ENST00000332904.3_Missense_Mutation_p.M687I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1						cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						taaggtacatgaaaaatagta	0.373													ENSG00000148600																																					0																																										SO:0001628	intergenic_variant	0			-	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634		10.37:g.85978855G>A			Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.M687I	ENST00000372117.3	37	c.2061	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	3.360	-0.130606	0.06753	.	.	ENSG00000148600	ENST00000332904	T	0.53206	0.63	1.15	-1.49	0.08718	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	1	B	0.20780	0.048	B	0.13407	0.009	T	0.14868	-1.0457	8	0.36615	T	0.2	.	4.2331	0.10613	0.5238:0.0:0.4762:0.0	.	687	Q96JP9-2	.	I	687	ENSP00000331063:M687I	ENSP00000331063:M687I	M	+	3	0	CDHR1	85968835	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.877000	0.04197	-0.529000	0.06358	-0.367000	0.07326	ATG	-	CDHR1	-	pfscan_Cadherin		0.373	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	0	0		73	73		0.00		G	NM_033100		85978855	+1	20		80		tier1	no_errors	ENST00000332904	ensembl	human	known	74_37	missense	20.00		SNP	0.000	A	20	80
CFAP46	54777	genome.wustl.edu	37	10	134751129	134751129	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr10:134751129C>T	ENST00000368586.5	-	6	687	c.587G>A	c.(586-588)aGg>aAg	p.R196K	TTC40_ENST00000368585.3_Missense_Mutation_p.R196K|TTC40_ENST00000368582.2_Missense_Mutation_p.R196K	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGAGCAGAACCTGGCAGCCTC	0.468													ENSG00000171811																																					0													89.0	93.0	91.0					10																	134751129		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000368586.5:c.587G>A	10.37:g.134751129C>T	ENSP00000357575:p.Arg196Lys			Missense_Mutation	SNP	NULL	p.R196K	ENST00000368586.5	37	c.587	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.658842	0.00772	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.82619	-1.63;-1.63;-1.63	4.74	-0.825	0.10809	.	1.136450	0.06573	N	0.748840	T	0.50309	0.1608	N	0.00801	-1.175	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.50634	-0.8805	10	0.02654	T	1	.	5.7641	0.18217	0.0:0.2271:0.1301:0.6428	.	196;196	Q5SR76-2;Q5SR76-1	.;.	K	196	ENSP00000357575:R196K;ENSP00000357571:R196K;ENSP00000357574:R196K	ENSP00000357571:R196K	R	-	2	0	C10orf93	134601119	0.000000	0.05858	0.007000	0.13788	0.085000	0.17905	0.066000	0.14489	-0.349000	0.08274	-0.781000	0.03364	AGG	-	TTC40	-	NULL		0.468	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	0	0		37	37		0.00		C			134751129	-1	24		27		tier1	no_errors	ENST00000368582	ensembl	human	known	74_37	missense	47.06		SNP	0.093	T	24	27
M1AP	130951	genome.wustl.edu	37	2	74808946	74808946	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:74808946G>A	ENST00000290536.5	-	5	740	c.624C>T	c.(622-624)gaC>gaT	p.D208D	M1AP_ENST00000536235.1_Silent_p.D208D|M1AP_ENST00000409585.1_Silent_p.D208D|M1AP_ENST00000358434.2_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	208					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TAGTCTGAAGGTCAATGTCAG	0.348													ENSG00000159374																																					0													149.0	138.0	141.0					2																	74808946		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.624C>T	2.37:g.74808946G>A			B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	NULL	p.T152I	ENST00000290536.5	37	c.455	CCDS33229.1	2																																																																																			-	M1AP	-	NULL		0.348	M1AP-001	KNOWN	basic|CCDS	protein_coding	M1AP	HGNC	protein_coding	OTTHUMT00000328569.1	0	0		61	61		0.00		G	NM_138804		74808946	-1	36		63		tier1	no_errors	ENST00000422394	ensembl	human	known	74_37	missense	36.36		SNP	0.997	A	36	63
SAMD9	54809	genome.wustl.edu	37	7	92734957	92734957	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:92734957C>T	ENST00000379958.2	-	3	723	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	152						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTGCCTTTCCTTTGTATAA	0.368													ENSG00000205413																																					0													133.0	142.0	139.0					7																	92734957		2203	4300	6503	SO:0001583	missense	0			-	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.454G>A	7.37:g.92734957C>T	ENSP00000369292:p.Glu152Lys		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.E152K	ENST00000379958.2	37	c.454	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436523	0.12104	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14766	2.48;2.48	4.48	1.67	0.24075	.	0.801566	0.10679	N	0.646571	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45440	-0.9261	10	0.10111	T	0.7	.	4.3413	0.11112	0.0:0.4743:0.1606:0.3651	.	152	Q5K651	SAMD9_HUMAN	K	152	ENSP00000369292:E152K;ENSP00000414529:E152K	ENSP00000369292:E152K	E	-	1	0	SAMD9	92572893	0.000000	0.05858	0.001000	0.08648	0.221000	0.24807	-0.189000	0.09629	0.252000	0.21531	0.603000	0.83216	GAA	-	SAMD9	-	NULL		0.368	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	0	0		67	67		0.00		C	NM_017654		92734957	-1	41		46		tier1	no_errors	ENST00000379958	ensembl	human	known	74_37	missense	46.59		SNP	0.002	T	41	46
COL11A2	1302	genome.wustl.edu	37	6	33144520	33144520	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:33144520G>A	ENST00000374708.4	-	24	2093	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	COL11A2_ENST00000374714.1_Missense_Mutation_p.P672L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P617L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.P591L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P677L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P638L|COL11A2_ENST00000341947.2_Missense_Mutation_p.P698L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P651L	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	698	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTTCCAGGGGGACCTTCCTT	0.547													ENSG00000204248																									Melanoma(1;90 116 3946 5341 17093)												0													95.0	98.0	97.0					6																	33144520		2203	4300	6503	SO:0001583	missense	0			-	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1835C>T	6.37:g.33144520G>A	ENSP00000363840:p.Pro612Leu		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P698L	ENST00000374708.4	37	c.2093	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946839	0.73672	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96885	-4.16;-3.19;-4.16;-3.19;-4.16;-4.16;-4.16;-4.16	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.39633	1.23	0.80722	D	1	D;P;D	0.76494	0.967;0.672;0.999	D;P;D	0.68765	0.943;0.579;0.96	D	0.95070	0.8203	10	0.41790	T	0.15	.	13.0062	0.58705	0.0:0.0:1.0:0.0	.	591;612;698	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	L	612;698;677;672;651;638;617;591	ENSP00000363840:P612L;ENSP00000339915:P698L;ENSP00000350079:P677L;ENSP00000363846:P672L;ENSP00000363845:P651L;ENSP00000378623:P638L;ENSP00000363844:P617L;ENSP00000355123:P591L	ENSP00000339915:P698L	P	-	2	0	COL11A2	33252498	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.510000	0.67018	2.459000	0.83118	0.549000	0.68633	CCC	-	COL11A2	-	NULL		0.547	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	0	0		71	71		0.00		G			33144520	-1	31		70		tier1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	30.69		SNP	0.999	A	31	70
PTPN7	5778	genome.wustl.edu	37	1	202127347	202127347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:202127347C>A	ENST00000308986.5	-	3	335	c.205G>T	c.(205-207)Gag>Tag	p.E69*	PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000309017.3_Nonsense_Mutation_p.E174*|PTPN7_ENST00000367279.4_Nonsense_Mutation_p.E108*|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000543735.1_Intron			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	69					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AGGGTGACCTCCCGGGGTGTG	0.627													ENSG00000143851																																					0													59.0	60.0	60.0					1																	202127347		2203	4300	6503	SO:0001587	stop_gained	0			-	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.205G>T	1.37:g.202127347C>A	ENSP00000311133:p.Glu69*		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Nonsense_Mutation	SNP	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.E174*	ENST00000308986.5	37	c.520		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.784124|5.784124	0.96937|0.96937	.|.	.|.	ENSG00000143851|ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000486116;ENST00000492451|ENST00000435759	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.092788|.	0.46758|.	D|.	0.000267|.	.|T	.|0.77432	.|0.4129	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80661	.|-0.1283	.|5	0.24483|0.72032	T|D	0.36|0.01	.|.	18.3525|18.3525	0.90343|0.90343	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	108;174;69;150;68;69;69;69;69|75	.|.	ENSP00000311133:E69X|ENSP00000406042:G75V	E|G	-|-	1|2	0|0	PTPN7|PTPN7	200393970|200393970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.559000|0.559000	0.35586|0.35586	6.801000|6.801000	0.75170|0.75170	2.330000|2.330000	0.79161|0.79161	0.462000|0.462000	0.41574|0.41574	GAG|GGA	-	PTPN7	-	prints_Tyr_Pase_KIM-con		0.627	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	PTPN7	HGNC	protein_coding		0	0		83	83		0.00		C	NM_002832		202127347	-1	52		76		tier1	no_errors	ENST00000309017	ensembl	human	known	74_37	nonsense	40.31		SNP	1.000	A	52	76
NCR3LG1	374383	genome.wustl.edu	37	11	17378328	17378328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:17378328G>A	ENST00000338965.4	+	2	445	c.201G>A	c.(199-201)tgG>tgA	p.W67*		NM_001202439.1	NP_001189368.1	Q68D85	NR3L1_HUMAN	natural killer cell cytotoxicity receptor 3 ligand 1	67	Ig-like V-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral capsid (GO:0019028)	structural molecule activity (GO:0005198)										CCTGGTTTTGGAAGAGTCTGA	0.448													ENSG00000188211																																					0																																										SO:0001587	stop_gained	0			-		CCDS55748.1	11p15.1	2014-01-30			ENSG00000188211	ENSG00000188211		"""Immunoglobulin superfamily / C1-set domain containing"", ""Endogenous ligands"""	42400	protein-coding gene	gene with protein product	"""B7 homolog 6"""	613714				19528259	Standard	XR_242803		Approved	DKFZp686O24166, B7-H6	uc001mmz.4	Q68D85	OTTHUMG00000165913	ENST00000338965.4:c.201G>A	11.37:g.17378328G>A	ENSP00000341637:p.Trp67*		Q7Z3M6	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.W67*	ENST00000338965.4	37	c.201	CCDS55748.1	11	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815385	0.50527	.	.	ENSG00000188211	ENST00000338965	.	.	.	4.35	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	1.7879	7.1174	0.25424	0.0:0.1908:0.6118:0.1974	.	.	.	.	X	67	.	ENSP00000341637:W67X	W	+	3	0	RP1-239B22.1	17334904	0.005000	0.15991	0.002000	0.10522	0.009000	0.06853	0.091000	0.15046	0.520000	0.28426	0.467000	0.42956	TGG	-	NCR3LG1	-	smart_Ig_sub,pfscan_Ig-like_dom		0.448	NCR3LG1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NCR3LG1	HGNC	protein_coding	OTTHUMT00000387035.2	0	0		78	78		0.00		G	NM_001202439		17378328	+1	19		106		tier1	no_errors	ENST00000530403	ensembl	human	known	74_37	nonsense	14.96		SNP	0.001	A	19	106
CCDC183	84960	genome.wustl.edu	37	9	139701265	139701265	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:139701265G>A	ENST00000338005.6	+	12	1370	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000357466.2_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000371671.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		445										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CGTACTGCGAGGGGAAGCTCA	0.627													ENSG00000213213																																					0													43.0	49.0	47.0					9																	139701265		2148	4253	6401	SO:0001819	synonymous_variant	0			-																												ENST00000338005.6:c.1335G>A	9.37:g.139701265G>A			B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	NULL	p.E445	ENST00000338005.6	37	c.1335	CCDS43906.1	9																																																																																			-	KIAA1984	-	NULL		0.627	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	0	0		51	51		0.00		G			139701265	+1	26		40		tier1	no_errors	ENST00000338005	ensembl	human	known	74_37	silent	39.39		SNP	0.524	A	26	40
MYO1F	4542	genome.wustl.edu	37	19	8586453	8586453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:8586453G>A	ENST00000338257.8	-	28	3523	c.3256C>T	c.(3256-3258)Cag>Tag	p.Q1086*		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1086	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGGCCCTCCTGGCCGTGAAGC	0.627													ENSG00000142347																																					0													39.0	45.0	43.0					19																	8586453		1902	4123	6025	SO:0001587	stop_gained	0			-	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3256C>T	19.37:g.8586453G>A	ENSP00000344871:p.Gln1086*		Q8WWN7	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.Q1086*	ENST00000338257.8	37	c.3256	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.053554	0.98629	.	.	ENSG00000142347	ENST00000338257	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.52099	D	0.999948	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3225	0.49430	0.0:0.0:0.7082:0.2918	.	.	.	.	X	1086	.	ENSP00000344871:Q1086X	Q	-	1	0	MYO1F	8492453	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.718000	0.61930	2.339000	0.79563	0.561000	0.74099	CAG	-	MYO1F	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	0	0		89	89		0.00		G			8586453	-1	35		115		tier1	no_errors	ENST00000338257	ensembl	human	known	74_37	nonsense	23.33		SNP	1.000	A	35	115
TG	7038	genome.wustl.edu	37	8	133923744	133923744	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:133923744C>T	ENST00000220616.4	+	19	4165	c.4125C>T	c.(4123-4125)atC>atT	p.I1375I	TG_ENST00000377869.1_Silent_p.I1375I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1375					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGAGGACATCCCAGTGGCTT	0.463													ENSG00000042832																																					0													216.0	193.0	201.0					8																	133923744		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4125C>T	8.37:g.133923744C>T			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.I1375	ENST00000220616.4	37	c.4125	CCDS34944.1	8																																																																																			-	TG	-	pirsf_Thyroglobulin		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	0	0		52	52		0.00		C	NM_003235		133923744	+1	26		73		tier1	no_errors	ENST00000220616	ensembl	human	known	74_37	silent	26.26		SNP	0.026	T	26	73
RASGEF1C	255426	genome.wustl.edu	37	5	179564927	179564927	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:179564927G>A	ENST00000393371.2	-	1	422	c.126C>T	c.(124-126)tcC>tcT	p.S42S	RASGEF1C_ENST00000522500.1_5'Flank|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Silent_p.S42S			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	42	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTTTCCAGGGAGGCTGAGG	0.672													ENSG00000146090																																					0													59.0	54.0	55.0					5																	179564927		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.126C>T	5.37:g.179564927G>A			D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S42	ENST00000393371.2	37	c.126	CCDS4452.1	5																																																																																			-	RASGEF1C	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N		0.672	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	0	0		39	39		0.00		G	NM_175062		179564927	-1	21		26		tier1	no_errors	ENST00000361132	ensembl	human	known	74_37	silent	44.68		SNP	0.996	A	21	26
PDIA3	2923	genome.wustl.edu	37	15	44036389	44036389	+	5'Flank	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr15:44036389G>A	ENST00000300289.5	+	0	0				CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000538521.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AAAAGATCAGGAAGATGATGA	0.413													ENSG00000205771																																					0																																										SO:0001631	upstream_gene_variant	0			-		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444		15.37:g.44036389G>A	Exception_encountered		Q13453|Q14255|Q8IYF8|Q9UMU7	R	SNP	-	NULL	ENST00000300289.5	37	NULL	CCDS10101.1	15																																																																																			-	CATSPER2P1	-	-		0.413	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER2P1	HGNC	protein_coding	OTTHUMT00000103532.3	0	0		92	92		0.00		G	NM_005313		44036389	-1	30		26		tier1	no_errors	ENST00000429276	ensembl	human	known	74_37	rna	53.57		SNP	1.000	A	30	26
OR2G6	391211	genome.wustl.edu	37	1	248685894	248685894	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:248685894A>T	ENST00000343414.4	+	1	979	c.947A>T	c.(946-948)gAc>gTc	p.D316V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCCACAAGGACTAGGAAACA	0.488													ENSG00000188558																																					0													33.0	31.0	32.0					1																	248685894		2201	4291	6492	SO:0001583	missense	0			-		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.947A>T	1.37:g.248685894A>T	ENSP00000341291:p.Asp316Val		B2RP33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D316V	ENST00000343414.4	37	c.947	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	9.545	1.114404	0.20795	.	.	ENSG00000188558	ENST00000343414	T	0.08634	3.07	0.84	-0.542	0.11854	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.41645	-0.9497	9	0.66056	D	0.02	.	1.3352	0.02143	0.4088:0.0:0.2507:0.3404	.	316	Q5TZ20	OR2G6_HUMAN	V	316	ENSP00000341291:D316V	ENSP00000341291:D316V	D	+	2	0	OR2G6	246752517	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.153000	0.03169	-0.227000	0.09884	0.329000	0.21502	GAC	-	OR2G6	-	NULL		0.488	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	0	0		94	94		0.00		A	XM_372842		248685894	+1	28		93		tier1	no_errors	ENST00000343414	ensembl	human	known	74_37	missense	22.95		SNP	0.000	T	28	93
MFAP3	4238	genome.wustl.edu	37	5	153433060	153433060	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:153433060G>A	ENST00000436816.1	+	3	1095	c.876G>A	c.(874-876)cgG>cgA	p.R292R	MFAP3_ENST00000322602.5_Silent_p.R292R|MFAP3_ENST00000439768.2_Silent_p.R146R	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	292					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGATGGGACGGAGTAATTCAC	0.473													ENSG00000037749																																					0													92.0	94.0	93.0					5																	153433060		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.876G>A	5.37:g.153433060G>A			B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R292	ENST00000436816.1	37	c.876	CCDS4324.1	5																																																																																			-	MFAP3	-	NULL		0.473	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2	0	0		42	42		0.00		G	NM_005927		153433060	+1	14		52		tier1	no_errors	ENST00000322602	ensembl	human	known	74_37	silent	21.21		SNP	1.000	A	14	52
FGD3	89846	genome.wustl.edu	37	9	95797779	95797779	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:95797779G>A	ENST00000375482.3	+	18	2582	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	FGD3_ENST00000337352.6_Missense_Mutation_p.E696K|FGD3_ENST00000416701.2_Missense_Mutation_p.E695K|FGD3_ENST00000538555.1_Missense_Mutation_p.E299K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	696	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCAGTGGCTGGAAACCCTAAG	0.662													ENSG00000127084																																					0													31.0	39.0	36.0					9																	95797779		2156	4244	6400	SO:0001583	missense	0			-	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.2086G>A	9.37:g.95797779G>A	ENSP00000364631:p.Glu696Lys		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E696K	ENST00000375482.3	37	c.2086	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	G	0.317	-0.963975	0.02249	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.71817	-0.49;-0.49;-0.49;-0.6	4.52	1.45	0.22620	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.665976	0.12414	N	0.471007	T	0.50973	0.1647	L	0.31578	0.945	0.23082	N	0.998329	B;B	0.25272	0.122;0.001	B;B	0.27608	0.081;0.005	T	0.37526	-0.9702	10	0.02654	T	1	.	7.3066	0.26451	0.094:0.3209:0.5851:0.0	.	695;696	F8W7P2;Q5JSP0	.;FGD3_HUMAN	K	696;695;696;299	ENSP00000364631:E696K;ENSP00000413833:E695K;ENSP00000336914:E696K;ENSP00000442560:E299K	ENSP00000336914:E696K	E	+	1	0	FGD3	94837600	0.775000	0.28604	0.402000	0.26371	0.173000	0.22820	0.288000	0.18939	0.182000	0.20032	0.561000	0.74099	GAA	-	FGD3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.662	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	0	0		40	40		0.00		G	NM_033086		95797779	+1	22		42		tier1	no_errors	ENST00000337352	ensembl	human	known	74_37	missense	34.38		SNP	0.621	A	22	42
DLGAP2	9228	genome.wustl.edu	37	8	1497302	1497302	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:1497302G>A	ENST00000421627.2	+	2	577	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	227					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCCCCGGGCGGATCCGCCAC	0.677													ENSG00000198010																																					0													10.0	13.0	12.0					8																	1497302		2103	4222	6325	SO:0001583	missense	0			-	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.443G>A	8.37:g.1497302G>A	ENSP00000400258:p.Arg148Gln		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.R148Q	ENST00000421627.2	37	c.443	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.281186|4.281186	0.80692|0.80692	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.19532	.|2.14	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57257|0.57257	0.2041|0.2041	M|M	0.89601|0.89601	3.045|3.045	0.44694|0.44694	D|D	0.997683|0.997683	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.65899|0.65899	-0.6056|-0.6056	5|10	.|0.87932	.|D	.|0	-13.1539|-13.1539	19.5381|19.5381	0.95262|0.95262	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|227;227	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	R|Q	165|193;148	.|ENSP00000400258:R148Q	.|ENSP00000348366:R193Q	G|R	+|+	1|2	0|0	DLGAP2|DLGAP2	1484709|1484709	0.998000|0.998000	0.40836|0.40836	0.008000|0.008000	0.14137|0.14137	0.156000|0.156000	0.22039|0.22039	7.538000|7.538000	0.82048|0.82048	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	GGA|CGG	-	DLGAP2	-	NULL		0.677	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	0	0		11	11		0.00		G	NM_004745		1497302	+1	8		9		tier1	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	47.06		SNP	0.991	A	8	9
TP53	7157	genome.wustl.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr17:7577082C>T	ENST00000269305.4	-	8	1045	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E286K|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E286K	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	AGATTCTCTTCCTCTGTGCGC	0.557		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)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	GRCh37	CM076567	TP53	M							95.0	81.0	86.0					17																	7577082		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.856G>A	17.37:g.7577082C>T	ENSP00000269305:p.Glu286Lys		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_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E286K	ENST00000269305.4	37	c.856	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310731	0.81358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.99	4.99	0.66335	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	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.983;0.985;0.982;0.99	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	286;286;286;286;286;275;154	ENSP00000352610:E286K;ENSP00000269305:E286K;ENSP00000398846:E286K;ENSP00000391127:E286K;ENSP00000391478:E286K;ENSP00000425104:E154K	ENSP00000269305:E286K	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA	-	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0		29	29		0.00		C	NM_000546		7577082	-1	21		20		tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	51.22		SNP	1.000	T	21	20
PROM2	150696	genome.wustl.edu	37	2	95940496	95940496	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr2:95940496C>T	ENST00000317620.9	+	1	296	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PROM2_ENST00000317668.4_Missense_Mutation_p.R55C|PROM2_ENST00000403131.2_Missense_Mutation_p.R55C|PROM2_ENST00000542147.1_Missense_Mutation_p.R55C|PROM2_ENST00000463580.1_3'UTR	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	55					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCTCGAGTTCGTGCGCCAGG	0.662													ENSG00000155066																																					0													74.0	84.0	81.0					2																	95940496		2203	4300	6503	SO:0001583	missense	0			-	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.163C>T	2.37:g.95940496C>T	ENSP00000318270:p.Arg55Cys		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.R55C	ENST00000317620.9	37	c.163	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496276	0.44352	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.01	5.01	0.66863	.	0.127754	0.36268	N	0.002691	T	0.63920	0.2552	M	0.72118	2.19	0.09310	N	0.999998	D	0.89917	1.0	D	0.63957	0.92	T	0.57871	-0.7736	10	0.39692	T	0.17	-15.9539	13.8035	0.63216	0.0:1.0:0.0:0.0	.	55	Q8N271	PROM2_HUMAN	C	55	ENSP00000385716:R55C;ENSP00000318520:R55C;ENSP00000318270:R55C;ENSP00000442542:R55C	ENSP00000318270:R55C	R	+	1	0	PROM2	95304223	0.135000	0.22499	0.023000	0.16930	0.088000	0.18126	2.800000	0.47900	2.339000	0.79563	0.491000	0.48974	CGT	-	PROM2	-	pfam_Prominin		0.662	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	0	0		10	10		0.00		C	NM_144707		95940496	+1	8		21		tier1	no_errors	ENST00000317620	ensembl	human	known	74_37	missense	27.59		SNP	0.037	T	8	21
PLEC	5339	genome.wustl.edu	37	8	144991329	144991329	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:144991329G>A	ENST00000322810.4	-	32	13240	c.13071C>T	c.(13069-13071)gaC>gaT	p.D4357D	PLEC_ENST00000357649.2_Silent_p.D4224D|PLEC_ENST00000398774.2_Silent_p.D4188D|PLEC_ENST00000354589.3_Silent_p.D4220D|PLEC_ENST00000345136.3_Silent_p.D4220D|PLEC_ENST00000356346.3_Silent_p.D4206D|PLEC_ENST00000527096.1_Silent_p.D4243D|PLEC_ENST00000354958.2_Silent_p.D4198D|PLEC_ENST00000436759.2_Silent_p.D4247D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4357	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGGTACTGGTCCAGTGCCG	0.647													ENSG00000178209																																					0													50.0	64.0	59.0					8																	144991329		2133	4229	6362	SO:0001819	synonymous_variant	0			-	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13071C>T	8.37:g.144991329G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.D4357	ENST00000322810.4	37	c.13071	CCDS43772.1	8																																																																																			-	PLEC	-	NULL		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	0	0		19	19		0.00		G	NM_000445		144991329	-1	4		18		tier1	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	18.18		SNP	1.000	A	4	18
PCDHB12	56124	genome.wustl.edu	37	5	140590363	140590363	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:140590363G>A	ENST00000239450.2	+	1	2073	c.1884G>A	c.(1882-1884)agG>agA	p.R628R	PCDHB12_ENST00000541609.1_Silent_p.R291R	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCGCCAGGCTGCTGAGCG	0.701													ENSG00000120328																																					0													7.0	10.0	9.0					5																	140590363		1606	3264	4870	SO:0001819	synonymous_variant	0			-	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1884G>A	5.37:g.140590363G>A			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R628	ENST00000239450.2	37	c.1884	CCDS4254.1	5																																																																																			-	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	0	0		54	54		0.00		G	NM_018932		140590363	+1	12		64		tier1	no_errors	ENST00000239450	ensembl	human	known	74_37	silent	15.79		SNP	0.082	A	12	64
ABCA13	154664	genome.wustl.edu	37	7	48414002	48414002	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:48414002G>A	ENST00000435803.1	+	34	11216	c.11192G>A	c.(11191-11193)gGa>gAa	p.G3731E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3731					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCTGGAAGGACAAGAGACA	0.403													ENSG00000179869																																					0													84.0	79.0	80.0					7																	48414002		1898	4113	6011	SO:0001583	missense	0			-	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11192G>A	7.37:g.48414002G>A	ENSP00000411096:p.Gly3731Glu		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G3731E	ENST00000435803.1	37	c.11192	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936589	0.52972	.	.	ENSG00000179869	ENST00000435803	T	0.81415	-1.49	5.51	4.62	0.57501	.	0.000000	0.49916	D	0.000121	T	0.79776	0.4504	N	0.16166	0.38	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71414	0.944;0.973	T	0.78254	-0.2275	10	0.26408	T	0.33	.	14.2489	0.66007	0.0:0.1484:0.8516:0.0	.	1433;3731	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	E	3731	ENSP00000411096:G3731E	ENSP00000411096:G3731E	G	+	2	0	ABCA13	48384548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.143000	0.50608	1.444000	0.47605	0.655000	0.94253	GGA	-	ABCA13	-	NULL		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	0	0		65	65		0.00		G	NM_152701		48414002	+1	10		79		tier1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	11.24		SNP	1.000	A	10	79
OGT	8473	genome.wustl.edu	37	X	70787568	70787568	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chrX:70787568C>T	ENST00000373719.3	+	20	3025	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	OGT_ENST00000373701.3_Silent_p.V926V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	936					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGATGGATGTCCTCTGGGCAG	0.522													ENSG00000147162																																					0													71.0	52.0	59.0					X																	70787568		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2808C>T	X.37:g.70787568C>T			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V936	ENST00000373719.3	37	c.2808	CCDS14414.1	X																																																																																			-	OGT	-	NULL		0.522	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	0	0		20	20		0.00		C	NM_003605, NM_181672		70787568	+1	17		16		tier1	no_errors	ENST00000373719	ensembl	human	known	74_37	silent	51.52		SNP	1.000	T	17	16
PGM1	5236	genome.wustl.edu	37	1	64095223	64095223	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:64095223G>A	ENST00000371084.3	+	2	587	c.374G>A	c.(373-375)gGa>gAa	p.G125E	PGM1_ENST00000371083.4_Missense_Mutation_p.G143E|PGM1_ENST00000540265.1_5'UTR	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	125					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCCCCAATGGAGATTTTGGA	0.438													ENSG00000079739																																					0													88.0	102.0	97.0					1																	64095223		2203	4300	6503	SO:0001583	missense	0			-	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.374G>A	1.37:g.64095223G>A	ENSP00000360125:p.Gly125Glu		B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.G143E	ENST00000371084.3	37	c.428	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548294	0.65311	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000371083	T;T	0.72942	-0.7;-0.7	5.48	5.48	0.80851	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	L	0.28274	0.84	0.80722	D	1	P;D	0.76494	0.693;0.999	B;D	0.74674	0.359;0.984	T	0.62077	-0.6930	10	0.15952	T	0.53	-30.1472	19.7462	0.96252	0.0:0.0:1.0:0.0	.	143;125	P36871-2;P36871	.;PGM1_HUMAN	E	101;125;143	ENSP00000360125:G125E;ENSP00000360124:G143E	ENSP00000360124:G143E	G	+	2	0	PGM1	63867811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.736000	0.93811	0.655000	0.94253	GGA	-	PGM1	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.438	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	0	0		60	60		0.00		G	NM_002633		64095223	+1	29		65		tier1	no_errors	ENST00000371083	ensembl	human	known	74_37	missense	30.85		SNP	1.000	A	29	65
SPATC1L	84221	genome.wustl.edu	37	21	47588307	47588307	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr21:47588307C>T	ENST00000291672.5	-	3	1520	c.459G>A	c.(457-459)agG>agA	p.R153R	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	153																	GGACCATCTCCCTGGGCTCCA	0.637													ENSG00000160284																																					0													45.0	40.0	42.0					21																	47588307		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"""speriolin-like protein"""	612412	"""chromosome 21 open reading frame 56"""	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.459G>A	21.37:g.47588307C>T			B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Silent	SNP	NULL	p.R153	ENST00000291672.5	37	c.459	CCDS46653.1	21																																																																																			-	SPATC1L	-	NULL		0.637	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATC1L	HGNC	protein_coding	OTTHUMT00000376654.1	0	0		53	53		0.00		C	NM_032261		47588307	-1	23		47		tier1	no_errors	ENST00000291672	ensembl	human	known	74_37	silent	32.86		SNP	1.000	T	23	47
MEF2B	100271849	genome.wustl.edu	37	19	19257570	19257570	+	Missense_Mutation	SNP	C	C	T	rs368120349		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:19257570C>T	ENST00000602424.2	-	8	1382	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	MEF2B_ENST00000409447.2_Intron|MEF2B_ENST00000162023.5_Missense_Mutation_p.R219Q|MEF2B_ENST00000410050.1_Missense_Mutation_p.R219Q|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R219Q|MEF2B_ENST00000409224.1_Missense_Mutation_p.R222Q|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R236Q|MEF2B_ENST00000424583.2_Missense_Mutation_p.R219Q|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	219					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TAGTCCCCCTCGGGGCCCAGC	0.662													ENSG00000213999																																					0													51.0	51.0	51.0					19																	19257570		2203	4300	6503	SO:0001583	missense	0			-	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.656G>A	19.37:g.19257570C>T	ENSP00000473308:p.Arg219Gln		A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.R219Q	ENST00000602424.2	37	c.656	CCDS12394.1	19	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181433	0.38511	.	.	ENSG00000213999	ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000162023	D;D;D;D;D	0.87571	-2.27;-2.21;-2.24;-2.16;-2.21	4.58	4.58	0.56647	.	0.397256	0.22917	N	0.054072	D	0.86715	0.5999	L	0.32530	0.975	0.24227	N	0.995417	D;D;D;P	0.71674	0.998;0.99;0.998;0.772	P;P;P;B	0.58780	0.689;0.516;0.845;0.198	T	0.78023	-0.2366	10	0.25106	T	0.35	-1.7888	12.8877	0.58053	0.0:1.0:0.0:0.0	.	219;219;219;222	Q02080;C9J4J4;G5E9M1;B3KQ23	MEF2B_HUMAN;.;.;.	Q	222;219;219;219;219	ENSP00000386480:R222Q;ENSP00000402154:R219Q;ENSP00000386374:R219Q;ENSP00000390762:R219Q;ENSP00000162023:R219Q	ENSP00000162023:R219Q	R	-	2	0	MEF2B	19118570	0.064000	0.20934	0.968000	0.41197	0.260000	0.26232	1.133000	0.31430	2.123000	0.65237	0.561000	0.74099	CGA	-	MEF2B	-	NULL		0.662	MEF2B-202	KNOWN	basic|CCDS	protein_coding	MEF2B	HGNC	protein_coding		0	0		14	14		0.00		C	NM_005919		19257570	-1	10		7		tier1	no_errors	ENST00000162023	ensembl	human	known	74_37	missense	58.82		SNP	0.631	T	10	7
CD101	9398	genome.wustl.edu	37	1	117556218	117556218	+	Missense_Mutation	SNP	A	A	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:117556218A>T	ENST00000256652.4	+	4	1090	c.1032A>T	c.(1030-1032)agA>agT	p.R344S	CD101_ENST00000369470.1_Missense_Mutation_p.R344S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	344	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAAAGAGAGAGCAAGTCAAG	0.502													ENSG00000134256																																					0													105.0	104.0	104.0					1																	117556218		2203	4300	6503	SO:0001583	missense	0			-	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1032A>T	1.37:g.117556218A>T	ENSP00000256652:p.Arg344Ser		Q15856	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R344S	ENST00000256652.4	37	c.1032	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126942	0.37533	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.02552	4.25;4.25	5.7	2.17	0.27698	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.088111	0.49305	D	0.000145	T	0.06280	0.0162	M	0.85630	2.765	0.29936	N	0.821513	D	0.71674	0.998	D	0.71870	0.975	T	0.05068	-1.0908	10	0.87932	D	0	-10.082	6.7672	0.23573	0.7366:0.0:0.2634:0.0	.	344	Q93033	IGSF2_HUMAN	S	344	ENSP00000256652:R344S;ENSP00000358482:R344S	ENSP00000256652:R344S	R	+	3	2	CD101	117357741	1.000000	0.71417	0.773000	0.31616	0.009000	0.06853	1.790000	0.38734	0.439000	0.26476	-0.912000	0.02778	AGA	-	CD101	-	smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like_dom		0.502	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	0	0		35	35		0.00		A	NM_004258		117556218	+1	9		52		tier1	no_errors	ENST00000256652	ensembl	human	known	74_37	missense	14.75		SNP	0.754	T	9	52
ABCC8	6833	genome.wustl.edu	37	11	17483346	17483346	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:17483346C>T	ENST00000389817.3	-	5	674	c.606G>A	c.(604-606)agG>agA	p.R202R	ABCC8_ENST00000302539.4_Silent_p.R202R			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	202					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCTTCACCTCCCTCGGTGTCT	0.577													ENSG00000006071																																					0													77.0	71.0	73.0					11																	17483346		2200	4293	6493	SO:0001819	synonymous_variant	0			-	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.606G>A	11.37:g.17483346C>T			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R202	ENST00000389817.3	37	c.606	CCDS31437.1	11																																																																																			-	ABCC8	-	NULL		0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	0	0		71	71		0.00		C	NM_000352		17483346	-1	39		59		tier1	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	39.80		SNP	0.028	T	39	59
NBEA	26960	genome.wustl.edu	37	13	36223811	36223811	+	Missense_Mutation	SNP	C	C	T	rs368659677		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:36223811C>T	ENST00000400445.3	+	51	8261	c.7727C>T	c.(7726-7728)cCg>cTg	p.P2576L	NBEA_ENST00000310336.4_Missense_Mutation_p.P2576L|NBEA_ENST00000540320.1_Missense_Mutation_p.P2576L|NBEA_ENST00000537702.1_Missense_Mutation_p.P369L|NBEA_ENST00000379922.3_Missense_Mutation_p.P154L|NBEA_ENST00000379939.2_Missense_Mutation_p.P2573L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2576					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCACAGAGTCCGCTCATGTTT	0.433													ENSG00000172915																																					0								C	LEU/PRO,LEU/PRO	0,3934		0,0,1967	206.0	199.0	201.0		1106,7727	5.4	1.0	13		201	1,8293		0,1,4146	no	missense,missense	NBEA	NM_001204197.1,NM_015678.4	98,98	0,1,6113	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	369/740,2576/2947	36223811	1,12227	1967	4147	6114	SO:0001583	missense	0			-	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7727C>T	13.37:g.36223811C>T	ENSP00000383295:p.Pro2576Leu		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.P2576L	ENST00000400445.3	37	c.7727	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683242	0.88542	0.0	1.21E-4	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.71206	2.165	0.80722	D	1	B;D;B	0.63046	0.293;0.992;0.414	B;P;B	0.53861	0.081;0.736;0.112	T	0.80677	-0.1276	10	0.48119	T	0.1	.	19.1733	0.93590	0.0:1.0:0.0:0.0	.	2576;154;2573	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	L	2576;2576;2573;2576;1203;154;369;154	ENSP00000440951:P2576L;ENSP00000383295:P2576L;ENSP00000369271:P2573L;ENSP00000308534:P2576L;ENSP00000440233:P369L;ENSP00000369254:P154L	ENSP00000308534:P2576L	P	+	2	0	NBEA	35121811	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.683000	0.84093	2.541000	0.85698	0.563000	0.77884	CCG	-	NBEA	-	NULL		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		0	0		56	56		0.00		C	NM_015678		36223811	+1	9		41		tier1	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	18.00		SNP	1.000	T	9	41
SEPT5	5413	genome.wustl.edu	37	22	19707965	19707965	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr22:19707965C>T	ENST00000455784.2	+	6	610	c.485C>T	c.(484-486)cCc>cTc	p.P162L	SEPT5_ENST00000406395.1_Missense_Mutation_p.P162L|SEPT5_ENST00000438754.2_Missense_Mutation_p.P171L|SEPT5_ENST00000383045.3_Missense_Mutation_p.P171L|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	162	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTCATCTCCCCCTTCGGGCAT	0.597													ENSG00000184702																																					0													104.0	100.0	101.0					22																	19707965		2203	4298	6501	SO:0001583	missense	0			-	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.485C>T	22.37:g.19707965C>T	ENSP00000391311:p.Pro162Leu		O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.P171L	ENST00000455784.2	37	c.512	CCDS13764.1	22	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871921	0.91587	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	3.6	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.87362	0.6158	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90365	0.4376	10	0.87932	D	0	.	15.7839	0.78286	0.0:1.0:0.0:0.0	.	162	Q99719	SEPT5_HUMAN	L	162;162;133;115;200;171;171;115	ENSP00000391311:P162L;ENSP00000384535:P162L;ENSP00000408678:P115L;ENSP00000414488:P200L;ENSP00000372515:P171L;ENSP00000394541:P171L;ENSP00000378541:P115L	ENSP00000372515:P171L	P	+	2	0	SEPT5	18087965	1.000000	0.71417	0.861000	0.33841	0.953000	0.61014	7.541000	0.82084	2.010000	0.58986	0.313000	0.20887	CCC	-	SEPT5	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	0	0		51	51		0.00		C	NM_002688		19707965	+1	28		61		tier1	no_errors	ENST00000383045	ensembl	human	known	74_37	missense	31.46		SNP	1.000	T	28	61
VWA7	80737	genome.wustl.edu	37	6	31735445	31735445	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:31735445G>A	ENST00000375688.4	-	11	1790	c.1590C>T	c.(1588-1590)gtC>gtT	p.V530V	VWA7_ENST00000375686.3_Silent_p.V530V|VWA7_ENST00000447450.1_Silent_p.V530V|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	530						extracellular region (GO:0005576)											CGTGGATCCGGACTGTGATCT	0.582													ENSG00000204396																																					0													136.0	136.0	136.0					6																	31735445		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1590C>T	6.37:g.31735445G>A			A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	NULL	p.V530	ENST00000375688.4	37	c.1590	CCDS4721.2	6																																																																																			-	VWA7	-	NULL		0.582	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	0	0		35	35		0.00		G	NM_025258		31735445	-1	7		31		tier1	no_errors	ENST00000375686	ensembl	human	known	74_37	silent	18.42		SNP	0.135	A	7	31
ZNF862	643641	genome.wustl.edu	37	7	149558298	149558298	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr7:149558298C>T	ENST00000223210.4	+	7	2294	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	683					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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGCTGGACATCCCCTTCCGGA	0.582													ENSG00000106479																																					0													24.0	26.0	26.0					7																	149558298		2062	4189	6251	SO:0001819	synonymous_variant	0			-	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2049C>T	7.37:g.149558298C>T			A0AUL8	Silent	SNP	pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box	p.I683	ENST00000223210.4	37	c.2049	CCDS47741.1	7																																																																																			-	ZNF862	-	superfamily_RNaseH-like_dom		0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF862	HGNC	protein_coding	OTTHUMT00000350165.1	0	0		46	46		0.00		C	NM_001099220		149558298	+1	20		45		tier1	no_errors	ENST00000223210	ensembl	human	known	74_37	silent	30.77		SNP	1.000	T	20	45
ASXL3	80816	genome.wustl.edu	37	18	31323276	31323276	+	Missense_Mutation	SNP	C	C	T	rs377619533		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr18:31323276C>T	ENST00000269197.5	+	12	3464	c.3464C>T	c.(3463-3465)tCg>tTg	p.S1155L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1155					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGGAAGGTTCGACTGGTGTC	0.498													ENSG00000141431																																					0													40.0	40.0	40.0					18																	31323276		1888	4121	6009	SO:0001583	missense	0			-	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3464C>T	18.37:g.31323276C>T	ENSP00000269197:p.Ser1155Leu		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S1155L	ENST00000269197.5	37	c.3464	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236795	0.79800	.	.	ENSG00000141431	ENST00000269197	T	0.52057	0.68	5.91	5.91	0.95273	.	0.646750	0.14260	N	0.330853	T	0.65739	0.2720	L	0.44542	1.39	0.48135	D	0.999597	D	0.89917	1.0	D	0.80764	0.994	T	0.64179	-0.6468	10	0.72032	D	0.01	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1155	Q9C0F0	ASXL3_HUMAN	L	1155	ENSP00000269197:S1155L	ENSP00000269197:S1155L	S	+	2	0	ASXL3	29577274	0.994000	0.37717	0.909000	0.35828	0.905000	0.53344	3.223000	0.51231	2.802000	0.96397	0.655000	0.94253	TCG	-	ASXL3	-	NULL		0.498	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	0	0		31	31		0.00		C			31323276	+1	18		11		tier1	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	62.07		SNP	0.995	T	18	11
DBH	1621	genome.wustl.edu	37	9	136507497	136507497	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr9:136507497C>T	ENST00000393056.2	+	3	667	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	219					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GGTCCAAGCTCCCAATATCCA	0.592													ENSG00000123454																																					0													69.0	63.0	65.0					9																	136507497		2203	4300	6503	SO:0001583	missense	0			-	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.655C>T	9.37:g.136507497C>T	ENSP00000376776:p.Pro219Ser		Q5T381|Q96AG2	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.P219S	ENST00000393056.2	37	c.655	CCDS6977.2	9	.	.	.	.	.	.	.	.	.	.	C	6.519	0.463915	0.12402	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.37235	1.21;1.21	4.67	3.76	0.43208	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.050806	0.85682	D	0.000000	T	0.33411	0.0862	L	0.60067	1.865	0.54753	D	0.999984	B	0.12630	0.006	B	0.18871	0.023	T	0.11299	-1.0593	10	0.15952	T	0.53	-32.2293	13.4129	0.60952	0.0:0.9217:0.0:0.0783	.	219	P09172	DOPO_HUMAN	S	219;156;156	ENSP00000376776:P219S;ENSP00000263611:P156S	ENSP00000263611:P156S	P	+	1	0	DBH	135497318	0.996000	0.38824	0.005000	0.12908	0.003000	0.03518	4.455000	0.60075	1.076000	0.40961	0.491000	0.48974	CCC	-	DBH	-	pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom		0.592	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	0	0		86	86		0.00		C	NM_000787		136507497	+1	39		108		tier1	no_errors	ENST00000393056	ensembl	human	known	74_37	missense	26.53		SNP	0.988	T	39	108
TMC7	79905	genome.wustl.edu	37	16	19049227	19049227	+	Missense_Mutation	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr16:19049227A>C	ENST00000304381.5	+	8	1167	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	TMC7_ENST00000421369.3_Missense_Mutation_p.K236T|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.K346T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	346					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATGCGGCAGAAAATAGCAGAA	0.398													ENSG00000170537																																					0													154.0	137.0	143.0					16																	19049227		2197	4300	6497	SO:0001583	missense	0			-	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1037A>C	16.37:g.19049227A>C	ENSP00000304710:p.Lys346Thr		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.K346T	ENST00000304381.5	37	c.1037	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076858	0.76415	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.55234	0.53;0.53	5.5	5.5	0.81552	.	0.052090	0.85682	D	0.000000	T	0.60301	0.2258	M	0.74647	2.275	0.42139	D	0.991509	P;B	0.39831	0.69;0.389	P;B	0.47075	0.536;0.317	T	0.65109	-0.6248	10	0.59425	D	0.04	.	9.4809	0.38900	0.921:0.0:0.079:0.0	.	346;346	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	346;236	ENSP00000304710:K346T;ENSP00000397081:K236T	ENSP00000304710:K346T	K	+	2	0	TMC7	18956728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.678000	0.61641	2.094000	0.63399	0.528000	0.53228	AAA	-	TMC7	-	NULL		0.398	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	0	0		55	55		0.00		A	NM_024847		19049227	+1	18		56		tier1	no_errors	ENST00000304381	ensembl	human	known	74_37	missense	24.32		SNP	1.000	C	18	56
MLXIP	22877	genome.wustl.edu	37	12	122617972	122617972	+	Silent	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr12:122617972C>T	ENST00000319080.7	+	9	1302	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S	MLXIP_ENST00000377037.2_5'Flank|MLXIP_ENST00000538698.1_5'UTR					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCGCCCCATCCCTGGCTCACA	0.622													ENSG00000175727																									Esophageal Squamous(105;787 1493 16200 18566 52466)												0													36.0	40.0	39.0					12																	122617972		2016	4172	6188	SO:0001819	synonymous_variant	0			-	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1170C>T	12.37:g.122617972C>T				Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S390	ENST00000319080.7	37	c.1170		12																																																																																			-	MLXIP	-	NULL		0.622	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2	0	0		81	81		0.00		C	NM_014938		122617972	+1	16		70		tier1	no_errors	ENST00000319080	ensembl	human	known	74_37	silent	18.60		SNP	0.545	T	16	70
NPHS2	7827	genome.wustl.edu	37	1	179533899	179533899	+	Missense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:179533899C>T	ENST00000367615.4	-	2	372	c.304G>A	c.(304-306)Gag>Aag	p.E102K	NPHS2_ENST00000367616.4_Missense_Mutation_p.E102K	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	102					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGAAGCCACTCACAGGCCCCT	0.413													ENSG00000116218																																					0			GRCh37	CM044692	NPHS2	M							66.0	70.0	68.0					1																	179533899		2203	4300	6503	SO:0001583	missense	0			-	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.304G>A	1.37:g.179533899C>T	ENSP00000356587:p.Glu102Lys		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.E102K	ENST00000367615.4	37	c.304	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548386	0.45383	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99803	-6.82;-6.82	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	M	0.71871	2.18	0.58432	D	0.999997	D;D	0.76494	0.969;0.999	P;D	0.72625	0.766;0.978	D	0.99605	1.0979	10	0.28530	T	0.3	-20.118	17.8888	0.88865	0.0:1.0:0.0:0.0	.	102;102	Q9NP85-2;Q9NP85	.;PODO_HUMAN	K	102	ENSP00000356587:E102K;ENSP00000356588:E102K	ENSP00000356587:E102K	E	-	1	0	NPHS2	177800522	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	5.568000	0.67385	2.567000	0.86603	0.561000	0.74099	GAG	-	NPHS2	-	NULL		0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	HGNC	protein_coding	OTTHUMT00000085283.1	0	0		63	63		0.00		C			179533899	-1	39		74		tier1	no_errors	ENST00000367615	ensembl	human	known	74_37	missense	34.21		SNP	1.000	T	39	74
MUC5B	727897	genome.wustl.edu	37	11	1264738	1264738	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr11:1264738G>A	ENST00000529681.1	+	31	6686	c.6628G>A	c.(6628-6630)Gtg>Atg	p.V2210M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V2213M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2210	7 X Cys-rich subdomain repeats.|Thr-rich.				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)		TCCCCACACGGTGCGCACAGC	0.667													ENSG00000117983																																					0													73.0	81.0	79.0					11																	1264738		2035	4161	6196	SO:0001583	missense	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.6628G>A	11.37:g.1264738G>A	ENSP00000436812:p.Val2210Met		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	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.V2213M	ENST00000529681.1	37	c.6637	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	7.372	0.626962	0.14257	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21734	1.99;2.17	1.83	-1.65	0.08291	.	.	.	.	.	T	0.20129	0.0484	L	0.50333	1.59	0.09310	N	1	P;P	0.50156	0.932;0.932	P;P	0.47528	0.549;0.549	T	0.13255	-1.0516	9	0.87932	D	0	.	2.7904	0.05386	0.3297:0.0:0.4527:0.2177	.	2848;2213	A7Y9J9;E9PBJ0	.;.	M	2210;2213;2211;2225	ENSP00000436812:V2210M;ENSP00000415793:V2213M	ENSP00000343037:V2211M	V	+	1	0	MUC5B	1221314	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-5.337000	0.00130	-0.468000	0.06922	0.305000	0.20034	GTG	-	MUC5B	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	0	0		68	68		0.00		G	XM_001126093		1264738	+1	22		68		tier1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	24.44		SNP	0.000	A	22	68
CHI3L2	1117	genome.wustl.edu	37	1	111778738	111778738	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:111778738G>A	ENST00000445067.2	+	9	1469	c.698G>A	c.(697-699)gGg>gAg	p.G233E	CHI3L2_ENST00000369748.4_Missense_Mutation_p.G233E|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G154E|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G223E|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G154E			Q15782	CH3L2_HUMAN	chitinase 3-like 2	233					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CTGAGCAAGGGGTGGCAGGAC	0.577													ENSG00000064886																																					0													77.0	78.0	77.0					1																	111778738		2203	4300	6503	SO:0001583	missense	0			-	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.698G>A	1.37:g.111778738G>A	ENSP00000437082:p.Gly233Glu		A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.G233E	ENST00000445067.2	37	c.698	CCDS30802.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.715241|2.715241	0.48622|0.48622	.|.	.|.	ENSG00000064886|ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000467038;ENST00000524472;ENST00000497220|ENST00000533831	T;T;T;T;T;T;T;T|.	0.33216|.	3.46;3.46;3.46;3.46;3.46;1.42;3.46;3.46|.	3.02|3.02	3.02|3.02	0.34903|0.34903	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|0.000000	0.37955|0.37955	N|N	0.001866|0.001866	T|T	0.60932|0.60932	0.2307|0.2307	M|M	0.77313|0.77313	2.365|2.365	0.38344|0.38344	D|D	0.944153|0.944153	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.61367|0.61367	-0.7077|-0.7077	10|7	0.28530|0.25751	T|T	0.3|0.34	-7.7559|-7.7559	11.8355|11.8355	0.52321|0.52321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	154;223;233|.	B4DPR7;A6NNY3;Q15782|.	.;.;CH3L2_HUMAN|.	E|S	233;223;233;214;154;154;135;154;87|110	ENSP00000437082:G233E;ENSP00000358759:G223E;ENSP00000358763:G233E;ENSP00000437086:G154E;ENSP00000436272:G154E;ENSP00000431978:G135E;ENSP00000432049:G154E;ENSP00000435250:G87E|.	ENSP00000358759:G223E|ENSP00000433176:G110S	G|G	+|+	2|1	0|0	CHI3L2|CHI3L2	111580261|111580261	0.962000|0.962000	0.33011|0.33011	0.851000|0.851000	0.33527|0.33527	0.412000|0.412000	0.31113|0.31113	4.465000|4.465000	0.60141|0.60141	1.649000|1.649000	0.50652|0.50652	0.561000|0.561000	0.74099|0.74099	GGG|GGT	-	CHI3L2	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.577	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L2	HGNC	protein_coding	OTTHUMT00000033669.4	0	0		49	49		0.00		G	NM_004000		111778738	+1	27		47		tier1	no_errors	ENST00000369748	ensembl	human	known	74_37	missense	36.00		SNP	0.994	A	27	47
VCAN	1462	genome.wustl.edu	37	5	82789387	82789387	+	Silent	SNP	G	G	A	rs142013663		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr5:82789387G>A	ENST00000265077.3	+	4	1033	c.468G>A	c.(466-468)gcG>gcA	p.A156A	VCAN_ENST00000343200.5_Silent_p.A156A|VCAN_ENST00000513984.1_Silent_p.A156A|VCAN_ENST00000502527.2_Silent_p.A156A|VCAN_ENST00000342785.4_Silent_p.A156A|VCAN_ENST00000512590.2_Silent_p.A108A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	156	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACTACAGGGCGGCAACCAGCA	0.488													ENSG00000038427																																					0								G	,,,	0,4406		0,0,2203	96.0	87.0	90.0		468,468,468,468	-11.6	0.0	5	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	156/656,156/2410,156/1643,156/3397	82789387	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.468G>A	5.37:g.82789387G>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.A156	ENST00000265077.3	37	c.468	CCDS4060.1	5																																																																																			rs142013663	VCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.488	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	0	0		73	73		0.00		G	NM_004385		82789387	+1	21		67		tier1	no_errors	ENST00000265077	ensembl	human	known	74_37	silent	23.86		SNP	0.000	A	21	67
KIAA1244	57221	genome.wustl.edu	37	6	138531092	138531092	+	Missense_Mutation	SNP	G	G	A	rs141094520		TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr6:138531092G>A	ENST00000251691.4	+	4	431	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AACAGATTCTGATGAGAAGCA	0.493													ENSG00000112379																																					0													162.0	145.0	151.0					6																	138531092		2203	4300	6503	SO:0001583	missense	0			-	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.265G>A	6.37:g.138531092G>A	ENSP00000251691:p.Asp89Asn			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.D89N	ENST00000251691.4	37	c.265	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217037	0.79352	.	.	ENSG00000112379	ENST00000251691	T	0.19669	2.13	5.71	5.71	0.89125	.	0.355643	0.31301	N	0.007892	T	0.18551	0.0445	L	0.42245	1.32	0.43988	D	0.996689	P	0.46784	0.884	P	0.46419	0.516	T	0.00529	-1.1687	10	0.40728	T	0.16	-21.3602	19.8533	0.96747	0.0:0.0:1.0:0.0	.	89	Q5TH69	BIG3_HUMAN	N	89	ENSP00000251691:D89N	ENSP00000251691:D89N	D	+	1	0	KIAA1244	138572785	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	5.478000	0.66806	2.695000	0.91970	0.555000	0.69702	GAT	-	KIAA1244	-	superfamily_ARM-type_fold		0.493	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	0	0		74	74		0.00		G	NM_020340		138531092	+1	27		61		tier1	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	30.68		SNP	0.998	A	27	61
LRRC41	10489	genome.wustl.edu	37	1	46744895	46744895	+	Silent	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr1:46744895G>A	ENST00000343304.6	-	9	2463	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	726					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AATCCTCTGAGAAAACATCTG	0.547													ENSG00000132128																																					0													60.0	57.0	58.0					1																	46744895		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2178C>T	1.37:g.46744895G>A			A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.F726	ENST00000343304.6	37	c.2178	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	G	4.793	0.147376	0.09134	.	.	ENSG00000132128	ENST00000371972	.	.	.	5.21	3.34	0.38264	.	.	.	.	.	T	0.57695	0.2071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51434	-0.8706	4	.	.	.	-13.9366	8.1625	0.31207	0.2377:0.0:0.7623:0.0	.	.	.	.	F	556	.	.	S	-	2	0	LRRC41	46517482	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.422000	0.34826	0.597000	0.29811	0.561000	0.74099	TCT	-	LRRC41	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.547	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	0	0		29	29		0.00		G	NM_006369		46744895	-1	25		51		tier1	no_errors	ENST00000343304	ensembl	human	known	74_37	silent	32.89		SNP	0.894	A	25	51
TEX29	121793	genome.wustl.edu	37	13	111995198	111995198	+	Missense_Mutation	SNP	G	G	A			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr13:111995198G>A	ENST00000283547.1	+	5	464	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	112						integral component of membrane (GO:0016021)											TCATCCAGCAGCAAGTTAGGG	0.552													ENSG00000153495																																					0													84.0	75.0	78.0					13																	111995198		2203	4300	6503	SO:0001583	missense	0			-	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.335G>A	13.37:g.111995198G>A	ENSP00000283547:p.Ser112Asn			Missense_Mutation	SNP	NULL	p.S112N	ENST00000283547.1	37	c.335	CCDS9522.1	13	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339654	0.24339	.	.	ENSG00000153495	ENST00000283547	.	.	.	2.07	-2.69	0.06022	.	.	.	.	.	T	0.18299	0.0439	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.19224	-1.0312	8	0.36615	T	0.2	0.957	3.2505	0.06812	0.3746:0.2261:0.3993:0.0	.	112	Q8N6K0	CM016_HUMAN	N	112	.	ENSP00000283547:S112N	S	+	2	0	C13orf16	110793199	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.498000	0.02287	-0.682000	0.05197	-0.379000	0.06801	AGC	-	TEX29	-	NULL		0.552	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX29	HGNC	protein_coding	OTTHUMT00000045812.2	0	0		70	70		0.00		G	NM_152324		111995198	+1	8		36		tier1	no_errors	ENST00000283547	ensembl	human	known	74_37	missense	18.18		SNP	0.000	A	8	36
CSMD3	114788	genome.wustl.edu	37	8	113655780	113655780	+	Intron	SNP	A	A	C			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr8:113655780A>C	ENST00000297405.5	-	20	3555				MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000343508.3_Intron|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						GCAAAACTTTAAGTGTTAATT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			ENSG00000238399																																					0													62.0	63.0	63.0					8																	113655780		692	1591	2283	SO:0001627	intron_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.3310+1557T>G	8.37:g.113655780A>C			Q96PZ3	R	SNP	-	NULL	ENST00000297405.5	37	NULL	CCDS6315.1	8																																																																																			-	MIR2053	-	-		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR2053	HGNC	protein_coding	OTTHUMT00000347141.1	0	0		102	102		0.00		A	NM_052900		113655780	+1	46		90		tier1	no_errors	ENST00000459295	ensembl	human	known	74_37	rna	33.82		SNP	1.000	C	46	90
NLRP13	126204	genome.wustl.edu	37	19	56443432	56443432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QC-A7B5-01A-11D-A33E-09	TCGA-QC-A7B5-11A-11D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	fe0d50c5-33b2-4e05-b833-13a1f919cc85	02ddd768-a8f5-4d78-9327-e0664a10a269	g.chr19:56443432C>T	ENST00000342929.3	-	1	245	c.246G>A	c.(244-246)tgG>tgA	p.W82*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.W82*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	82	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			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)		GGACCACTTTCCATGCCTGAC	0.517													ENSG00000173572																																					0													68.0	64.0	65.0					19																	56443432		2203	4300	6503	SO:0001587	stop_gained	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.246G>A	19.37:g.56443432C>T	ENSP00000343891:p.Trp82*		Q7RTR5	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.W82*	ENST00000342929.3	37	c.246	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940270	0.52972	.	.	ENSG00000173572	ENST00000342929	.	.	.	1.97	1.97	0.26223	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4755	0.27374	0.0:1.0:0.0:0.0	.	.	.	.	X	82	.	ENSP00000343891:W82X	W	-	3	0	NLRP13	61135244	0.031000	0.19500	0.012000	0.15200	0.003000	0.03518	1.391000	0.34475	1.422000	0.47177	0.591000	0.81541	TGG	-	NLRP13	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.517	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	0	0		57	57		0.00		C	NM_176810		56443432	-1	15		65		tier1	no_errors	ENST00000342929	ensembl	human	known	74_37	nonsense	18.75		SNP	0.013	T	15	65
