#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADCY7	113	genome.wustl.edu	37	16	50334759	50334759	+	Missense_Mutation	SNP	C	C	T	rs200808995		TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr16:50334759C>T	ENST00000394697.2	+	9	1550	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	ADCY7_ENST00000537579.1_Missense_Mutation_p.R404W|ADCY7_ENST00000566433.2_Missense_Mutation_p.R404W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R404W|ADCY7_ENST00000254235.3_Missense_Mutation_p.R404W			P51828	ADCY7_HUMAN	adenylate cyclase 7	404	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCTGGCCAACCGGATGGAGGC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16578	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													95.0	77.0	83.0					16																	50334759		2168	4242	6410	-	-	-	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1210C>T	16.37:g.50334759C>T	ENSP00000378187:p.Arg404Trp		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R404W	ENST00000394697.2	37	c.1210	CCDS10741.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.8	4.044723	0.75732	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.83	0.701	0.18104	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.44483	U	0.000456	D	0.94311	0.8172	M	0.92412	3.305	0.41330	D	0.987232	D;D	0.89917	0.999;1.0	D;D	0.79108	0.959;0.992	D	0.94672	0.7857	10	0.54805	T	0.06	.	16.0632	0.80853	0.2103:0.7897:0.0:0.0	.	404;404	P51828;F5H4D1	ADCY7_HUMAN;.	W	404	ENSP00000445046:R404W;ENSP00000378187:R404W;ENSP00000437788:R404W;ENSP00000254235:R404W	ENSP00000254235:R404W	R	+	1	2	ADCY7	48892260	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	2.422000	0.44696	0.095000	0.17434	0.313000	0.20887	CGG	ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000121281		0.667	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	279	0.36	1	C			50334759	50334759	+1	no_errors	ENST00000254235	ensembl	human	known	69_37n	missense	304	24.75	100	SNP	1.000	T
AKAP6	9472	genome.wustl.edu	37	14	33290718	33290718	+	Silent	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr14:33290718G>A	ENST00000280979.4	+	13	3869	c.3699G>A	c.(3697-3699)gaG>gaA	p.E1233E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1233					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTTGAATGAGGAATCAAATG	0.428																																					Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													134.0	122.0	126.0					14																	33290718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3699G>A	14.37:g.33290718G>A			A7E242|A7E2D4|O15028	Silent	SNP	smart_Spectrin/alpha-actinin	p.E1233	ENST00000280979.4	37	c.3699	CCDS9644.1	14																																																																																			AKAP6	-	NULL	ENSG00000151320		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	140	0.00	0	G	NM_004274		33290718	33290718	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	1.000	A
AKNA	80709	genome.wustl.edu	37	9	117106081	117106081	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr9:117106081G>A	ENST00000307564.4	-	19	3825	c.3664C>T	c.(3664-3666)Cac>Tac	p.H1222Y	AKNA_ENST00000374088.3_Missense_Mutation_p.H1222Y|AKNA_ENST00000374075.5_Missense_Mutation_p.H1141Y|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.H682Y|AKNA_ENST00000374079.4_Missense_Mutation_p.H167Y	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1222					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGGTATTCGTGGCCTGGGGAA	0.517																																						dbGAP											0													73.0	73.0	73.0					9																	117106081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3664C>T	9.37:g.117106081G>A	ENSP00000303769:p.His1222Tyr		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.H1222Y	ENST00000307564.4	37	c.3664	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	G	10.27	1.305082	0.23736	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000320310;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.17528	2.76;2.27;2.76;2.53;2.75	4.1	3.17	0.36434	.	0.243896	0.29073	N	0.013233	T	0.12092	0.0294	L	0.36672	1.1	0.25424	N	0.988241	B;B	0.31485	0.325;0.105	B;B	0.25614	0.062;0.04	T	0.16335	-1.0406	10	0.48119	T	0.1	-8.2518	9.1437	0.36919	0.0:0.0:0.7829:0.2171	.	1222;1141	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Y	1222;167;234;1222;682;1141	ENSP00000303769:H1222Y;ENSP00000363192:H167Y;ENSP00000363201:H1222Y;ENSP00000223791:H682Y;ENSP00000363188:H1141Y	ENSP00000223791:H682Y	H	-	1	0	AKNA	116145902	1.000000	0.71417	0.999000	0.59377	0.396000	0.30629	1.539000	0.36104	1.270000	0.44297	0.655000	0.94253	CAC	AKNA	-	NULL	ENSG00000106948		0.517	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	204	0.97	2	G	NM_030767		117106081	117106081	-1	no_errors	ENST00000307564	ensembl	human	known	69_37n	missense	161	16.58	32	SNP	0.999	A
ANO6	196527	genome.wustl.edu	37	12	45810499	45810499	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr12:45810499G>A	ENST00000320560.8	+	17	2231	c.2029G>A	c.(2029-2031)Gtc>Atc	p.V677I	ANO6_ENST00000441606.2_Missense_Mutation_p.V659I|ANO6_ENST00000435642.1_Missense_Mutation_p.V677I|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.V677I|ANO6_ENST00000423947.3_Missense_Mutation_p.V698I	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	677					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTTTGGGTTCGTCACCTTATT	0.448																																						dbGAP											0													182.0	148.0	160.0					12																	45810499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2029G>A	12.37:g.45810499G>A	ENSP00000320087:p.Val677Ile		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.V677I	ENST00000320560.8	37	c.2029	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842512	0.71488	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.72	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	L	0.37630	1.12	0.53005	D	0.999962	P;P;D;D	0.67145	0.914;0.547;0.996;0.96	P;B;D;P	0.63793	0.572;0.416;0.918;0.887	T	0.61317	-0.7087	10	0.21014	T	0.42	.	13.4228	0.61007	0.1343:0.0:0.8657:0.0	.	659;698;677;677	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	I	677;698;677;677;659	ENSP00000391417:V677I;ENSP00000409126:V698I;ENSP00000413840:V677I;ENSP00000320087:V677I;ENSP00000413137:V659I	ENSP00000320087:V677I	V	+	1	0	ANO6	44096766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.656000	0.67988	1.581000	0.49865	0.650000	0.86243	GTC	ANO6	-	pfam_Anoctamin	ENSG00000177119		0.448	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	490	0.00	0	G	XM_113743		45810499	45810499	+1	no_errors	ENST00000425752	ensembl	human	known	69_37n	missense	112	34.12	58	SNP	1.000	A
ARHGEF10L	55160	genome.wustl.edu	37	1	17964425	17964425	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:17964425A>G	ENST00000361221.3	+	19	2129	c.1970A>G	c.(1969-1971)cAg>cGg	p.Q657R	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.Q652R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.Q360R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.Q618R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.Q618R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.Q430R|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.Q415R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	657						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)		CAGGAGCTGCAGGACCTGCAG	0.602																																						dbGAP											0													55.0	40.0	45.0					1																	17964425		2199	4299	6498	-	-	-	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.1970A>G	1.37:g.17964425A>G	ENSP00000355060:p.Gln657Arg		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.Q657R	ENST00000361221.3	37	c.1970	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479296	0.84747	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.62498	0.31;0.36;0.15;0.36;0.02;0.08;2.34	5.72	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	M	0.76170	2.325	0.43494	D	0.995739	D;P;D;D;P;D;D;D	0.89917	0.992;0.895;1.0;0.996;0.935;0.995;0.992;0.986	P;P;D;D;P;D;D;D	0.72982	0.889;0.552;0.979;0.956;0.622;0.962;0.956;0.926	T	0.75363	-0.3344	10	0.44086	T	0.13	-16.798	11.0316	0.47776	0.8437:0.1563:0.0:0.0	.	430;415;652;360;418;613;618;657	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	R	657;618;652;618;415;430;430;360	ENSP00000355060:Q657R;ENSP00000399401:Q618R;ENSP00000394621:Q652R;ENSP00000364564:Q618R;ENSP00000364569:Q415R;ENSP00000364557:Q430R;ENSP00000167825:Q360R	ENSP00000167825:Q360R	Q	+	2	0	ARHGEF10L	17837012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.030000	0.88816	0.957000	0.37930	0.533000	0.62120	CAG	ARHGEF10L	-	NULL	ENSG00000074964		0.602	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	191	0.00	0	A	NM_018125		17964425	17964425	+1	no_errors	ENST00000361221	ensembl	human	known	69_37n	missense	156	25.00	52	SNP	1.000	G
ASPM	259266	genome.wustl.edu	37	1	197073453	197073454	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:197073453_197073454insC	ENST00000367409.4	-	18	5183_5184	c.4927_4928insG	c.(4927-4929)tatfs	p.Y1643fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1643	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCCCTCTATATGCAGACTGC	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4927_4928insG	1.37:g.197073453_197073454insC	ENSP00000356379:p.Tyr1643fs		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.Y1643fs	ENST00000367409.4	37	c.4928_4927	CCDS1389.1	1																																																																																			ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.356	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	78	0.00	0	-	NM_018136		197073453	197073454	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	frame_shift_ins	3	50.00	3	INS	0.017:0.050	C
ATP10B	23120	genome.wustl.edu	37	5	159992485	159992485	+	Missense_Mutation	SNP	C	C	A	rs534112987		TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr5:159992485C>A	ENST00000327245.5	-	26	5207	c.4361G>T	c.(4360-4362)cGa>cTa	p.R1454L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|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)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532																																						dbGAP											0													132.0	126.0	128.0					5																	159992485		2026	4198	6224	-	-	-	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4361G>T	5.37:g.159992485C>A	ENSP00000313600:p.Arg1454Leu		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R1454L	ENST00000327245.5	37	c.4361	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085699	0.76642	.	.	ENSG00000118322	ENST00000327245	T	0.49432	0.78	5.46	5.46	0.80206	.	0.000000	0.50627	D	0.000102	T	0.65101	0.2659	M	0.62723	1.935	0.35614	D	0.808904	D	0.76494	0.999	D	0.79784	0.993	T	0.71457	-0.4587	9	.	.	.	.	14.7921	0.69851	0.0:1.0:0.0:0.0	.	1454	O94823	AT10B_HUMAN	L	1454	ENSP00000313600:R1454L	.	R	-	2	0	ATP10B	159925063	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	4.086000	0.57664	2.559000	0.86315	0.563000	0.77884	CGA	ATP10B	-	NULL	ENSG00000118322		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	236	0.00	0	C	NM_025153		159992485	159992485	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	missense	21	55.32	26	SNP	0.996	A
BCORL1	63035	genome.wustl.edu	37	X	129171506	129171506	+	Silent	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:129171506G>A	ENST00000218147.7	+	9	4667	c.4470G>A	c.(4468-4470)acG>acA	p.T1490T	BCORL1_ENST00000540052.1_Silent_p.T1490T|BCORL1_ENST00000359304.2_Silent_p.T1360T|BCORL1_ENST00000303743.5_Silent_p.T1564T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1490					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						AGGACGGCACGAGGCAAGAGG	0.647																																						dbGAP											0													78.0	58.0	65.0					X																	129171506		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.4470G>A	X.37:g.129171506G>A			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.T1564	ENST00000218147.7	37	c.4692	CCDS14616.1	X																																																																																			BCORL1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000085185		0.647	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	75	0.00	0	G	NM_021946		129171506	129171506	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	silent	108	35.71	60	SNP	0.014	A
C1orf194	127003	genome.wustl.edu	37	1	109649741	109649741	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:109649741G>T	ENST00000369948.3	-	3	277	c.202C>A	c.(202-204)Cca>Aca	p.P68T	C1orf194_ENST00000369949.4_Missense_Mutation_p.P56T|C1orf194_ENST00000369945.3_Missense_Mutation_p.P29T			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	68										large_intestine(2)|lung(2)|ovary(2)	6						TCATCCTTTGGTATCTACAGA	0.478																																						dbGAP											0													179.0	152.0	161.0					1																	109649741		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.202C>A	1.37:g.109649741G>T	ENSP00000358964:p.Pro68Thr		Q5T5A3	Missense_Mutation	SNP	pfam_DUF3695	p.P68T	ENST00000369948.3	37	c.202		1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453863	0.63290	.	.	ENSG00000179902	ENST00000369949;ENST00000369948;ENST00000369945	.	.	.	5.02	5.02	0.67125	.	0.082208	0.47852	D	0.000208	T	0.75932	0.3917	M	0.84082	2.675	0.44085	D	0.996849	D;D	0.89917	0.999;1.0	D;D	0.91635	0.932;0.999	T	0.80002	-0.1565	9	0.72032	D	0.01	1.0446	13.8924	0.63747	0.0:0.0:1.0:0.0	.	56;68	Q5T5A4-2;Q5T5A4	.;CA194_HUMAN	T	56;68;29	.	ENSP00000358961:P29T	P	-	1	0	C1orf194	109451264	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.351000	0.66022	2.341000	0.79615	0.306000	0.20318	CCA	C1orf194	-	pfam_DUF3695	ENSG00000179902		0.478	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	C1orf194	HGNC	protein_coding	OTTHUMT00000032416.2	261	0.00	0	G	NM_001122961		109649741	109649741	-1	no_errors	ENST00000369948	ensembl	human	known	69_37n	missense	218	22.97	65	SNP	1.000	T
C1orf226	400793	genome.wustl.edu	37	1	162351928	162351929	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:162351928_162351929delGA	ENST00000458626.2	+	1	409_410	c.237_238delGA	c.(235-240)gtgacafs	p.T80fs	C1orf226_ENST00000426197.2_Frame_Shift_Del_p.T123fs	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	80										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						GTGTGGGTGTGACAGAGATCAA	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.237_238delGA	1.37:g.162351928_162351929delGA	ENSP00000437071:p.Thr80fs		B4DF31	Frame_Shift_Del	DEL	NULL	p.T123fs	ENST00000458626.2	37	c.366_367	CCDS53422.1	1																																																																																			C1orf226	-	NULL	ENSG00000239887		0.604	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf226	HGNC	protein_coding	OTTHUMT00000076793.2	21	0.00	0	GA	NM_001085375		162351928	162351929	+1	no_errors	ENST00000426197	ensembl	human	known	69_37n	frame_shift_del	41	30.00	18	DEL	0.913:0.931	-
CDK18	5129	genome.wustl.edu	37	1	205492722	205492722	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:205492722G>A	ENST00000360066.2	+	3	543	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	CDK18_ENST00000506784.1_Missense_Mutation_p.R81Q|CDK18_ENST00000429964.2_Missense_Mutation_p.R81Q|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	79							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGTTCCAGCGGCGGCAGAAC	0.682																																					Pancreas(180;489 2072 28461 40831 44265)	dbGAP											0													11.0	14.0	12.0					1																	205492722		2191	4287	6478	-	-	-	SO:0001583	missense	0			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.242G>A	1.37:g.205492722G>A	ENSP00000353176:p.Arg81Gln		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	pfam_Prot_kinase_cat_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_cat_dom	p.R81Q	ENST00000360066.2	37	c.242	CCDS44300.1	1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963731	0.53507	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.69561	-0.38;-0.41;-0.38;1.57;1.57	5.49	2.61	0.31194	.	0.298246	0.35555	N	0.003121	T	0.56848	0.2013	L	0.50333	1.59	0.18873	N	0.999989	B;B	0.24092	0.097;0.011	B;B	0.21151	0.033;0.013	T	0.52193	-0.8608	10	0.62326	D	0.03	-17.6639	8.4801	0.33038	0.2591:0.0:0.7409:0.0	.	81;81	Q07002-3;Q07002-2	.;.	Q	81;81;81;60;81	ENSP00000399082:R81Q;ENSP00000423665:R81Q;ENSP00000353176:R81Q;ENSP00000397831:R60Q;ENSP00000391324:R81Q	ENSP00000353176:R81Q	R	+	2	0	CDK18	203759345	0.794000	0.28838	0.483000	0.27378	0.928000	0.56348	1.991000	0.40727	0.283000	0.22279	-0.137000	0.14449	CGG	CDK18	-	NULL	ENSG00000117266		0.682	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	20	0.00	0	G	NM_002596		205492722	205492722	+1	no_errors	ENST00000506784	ensembl	human	known	69_37n	missense	29	42.00	21	SNP	0.244	A
CHD6	84181	genome.wustl.edu	37	20	40127957	40127957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr20:40127957delA	ENST00000373233.3	-	6	1070	c.893delT	c.(892-894)ctgfs	p.L298fs	CHD6_ENST00000373222.3_Frame_Shift_Del_p.L333fs|CHD6_ENST00000309279.7_Frame_Shift_Del_p.L298fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	298	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				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)				CTTAGATGCCAGGATCTTCTC	0.393																																						dbGAP											0													79.0	65.0	70.0					20																	40127957		2203	4300	6503	-	-	-	SO:0001589	frameshift_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.893delT	20.37:g.40127957delA	ENSP00000362330:p.Leu298fs		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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.L298fs	ENST00000373233.3	37	c.893	CCDS13317.1	20																																																																																			CHD6	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	ENSG00000124177		0.393	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	103	0.00	0	A			40127957	40127957	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	1.000	-
CHKB	1120	genome.wustl.edu	37	22	51018482	51018482	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr22:51018482T>G	ENST00000406938.2	-	8	1065	c.848A>C	c.(847-849)gAg>gCg	p.E283A	CPT1B_ENST00000405237.3_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000434492.2_5'Flank|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000395650.2_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	283					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	ATAAACCCACTCACAAAAATG	0.517																																						dbGAP											0													84.0	90.0	88.0					22																	51018482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.848A>C	22.37:g.51018482T>G	ENSP00000384400:p.Glu283Ala		A0PJM6|Q13388	Missense_Mutation	SNP	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.E283A	ENST00000406938.2	37	c.848	CCDS14099.1	22	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495658	0.85069	.	.	ENSG00000100288	ENST00000406938	T	0.72505	-0.66	5.11	5.11	0.69529	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92010	0.5617	10	0.87932	D	0	-11.6549	12.8586	0.57901	0.0:0.0:0.0:1.0	.	283	Q9Y259	CHKB_HUMAN	A	283	ENSP00000384400:E283A	ENSP00000384400:E283A	E	-	2	0	CHKB	49365348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.547000	0.82146	1.923000	0.55706	0.533000	0.62120	GAG	CHKB	-	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000100288		0.517	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3	96	0.00	0	T	NM_005198		51018482	51018482	-1	no_errors	ENST00000406938	ensembl	human	known	69_37n	missense	79	13.19	12	SNP	1.000	G
CHORDC1	26973	genome.wustl.edu	37	11	89938668	89938668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr11:89938668delC	ENST00000320585.6	-	8	1038	c.629delG	c.(628-630)ggcfs	p.G210fs	CHORDC1_ENST00000529726.1_Frame_Shift_Del_p.G22fs|CHORDC1_ENST00000457199.2_Frame_Shift_Del_p.G191fs|CHORDC1_ENST00000529987.1_Frame_Shift_Del_p.G22fs	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	210	CHORD 2. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTTTGTACAGCCCTCTTGGGC	0.318																																						dbGAP											0													80.0	81.0	81.0					11																	89938668		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.629delG	11.37:g.89938668delC	ENSP00000319255:p.Gly210fs		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Frame_Shift_Del	DEL	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.G210fs	ENST00000320585.6	37	c.629	CCDS8289.1	11																																																																																			CHORDC1	-	pfam_CHORD	ENSG00000110172		0.318	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHORDC1	HGNC	protein_coding	OTTHUMT00000394111.1	70	0.00	0	C	NM_012124		89938668	89938668	-1	no_errors	ENST00000320585	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
COL4A6	1288	genome.wustl.edu	37	X	107418928	107418928	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:107418928C>A	ENST00000372216.4	-	29	2889	c.2789G>T	c.(2788-2790)gGa>gTa	p.G930V	COL4A6_ENST00000545689.1_Missense_Mutation_p.G929V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G930V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G929V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G929V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	930	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	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(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCCATTTTTCCAGTTGATCC	0.458									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													117.0	99.0	105.0					X																	107418928		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2789G>T	X.37:g.107418928C>A	ENSP00000361290:p.Gly930Val		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G930V	ENST00000372216.4	37	c.2789	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651094	0.47362	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.53;-5.53	5.21	5.21	0.72293	.	0.000000	0.41605	D	0.000853	D	0.99677	0.9879	H	0.98111	4.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97370	0.9975	10	0.87932	D	0	.	17.1289	0.86722	0.0:1.0:0.0:0.0	.	929;929;930;929	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	930;929;930;929;929;929	ENSP00000361290:G930V;ENSP00000334733:G929V;ENSP00000378340:G930V;ENSP00000443707:G929V;ENSP00000445236:G929V	ENSP00000334733:G929V	G	-	2	0	COL4A6	107305584	0.996000	0.38824	0.112000	0.21494	0.013000	0.08279	5.708000	0.68377	2.510000	0.84645	0.513000	0.50165	GGA	COL4A6	-	pfam_Collagen	ENSG00000197565		0.458	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	185	0.00	0	C			107418928	107418928	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	missense	68	39.29	44	SNP	0.959	A
CSDE1	7812	genome.wustl.edu	37	1	115276687	115276687	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:115276687G>C	ENST00000358528.4	-	8	1060	c.634C>G	c.(634-636)Cac>Gac	p.H212D	CSDE1_ENST00000261443.5_Missense_Mutation_p.H181D|CSDE1_ENST00000369530.1_Missense_Mutation_p.H227D|CSDE1_ENST00000534699.1_Missense_Mutation_p.H212D|CSDE1_ENST00000339438.6_Missense_Mutation_p.H181D|CSDE1_ENST00000438362.2_Missense_Mutation_p.H258D|CSDE1_ENST00000530886.1_Missense_Mutation_p.H82D	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	212	CSD 3.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		TCACTATAGTGAAAGAATATC	0.348																																						dbGAP											0													63.0	61.0	62.0					1																	115276687		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.634C>G	1.37:g.115276687G>C	ENSP00000351329:p.His212Asp		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	p.H227D	ENST00000358528.4	37	c.679	CCDS30812.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506580	0.85282	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699;ENST00000529046	.	.	.	6.07	5.15	0.70609	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88138	0.6356	H	0.96970	3.915	0.80722	D	1	D;B;D	0.76494	0.999;0.0;0.96	D;B;D	0.85130	0.997;0.004;0.948	D	0.92561	0.6058	9	0.72032	D	0.01	-13.2056	17.2984	0.87175	0.0:0.1254:0.8746:0.0	.	227;212;258	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	D	181;258;212;181;82;227;212;82	.	ENSP00000261443:H181D	H	-	1	0	CSDE1	115078210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	1.538000	0.49270	0.655000	0.94253	CAC	CSDE1	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	ENSG00000009307		0.348	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1	111	0.00	0	G	NM_007158		115276687	115276687	-1	no_errors	ENST00000369530	ensembl	human	known	69_37n	missense	21	52.27	23	SNP	1.000	C
CUBN	8029	genome.wustl.edu	37	10	16878371	16878371	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr10:16878371T>A	ENST00000377833.4	-	63	10108	c.10043A>T	c.(10042-10044)aAt>aTt	p.N3348I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3348	CUB 25. {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)	AAATCTTGAATTTCCGTGACC	0.383																																						dbGAP											0													67.0	67.0	67.0					10																	16878371		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.10043A>T	10.37:g.16878371T>A	ENSP00000367064:p.Asn3348Ile		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.N3348I	ENST00000377833.4	37	c.10043	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	14.57	2.576145	0.45902	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.34275	1.37	5.03	0.12	0.14691	CUB (5);	0.177592	0.26453	N	0.024283	T	0.47021	0.1423	M	0.76002	2.32	0.09310	N	1	D	0.56746	0.977	P	0.58721	0.844	T	0.31024	-0.9958	10	0.36615	T	0.2	.	7.378	0.26839	0.0:0.4749:0.0:0.5251	.	3348	O60494	CUBN_HUMAN	I	3348;189	ENSP00000367064:N3348I	ENSP00000367064:N3348I	N	-	2	0	CUBN	16918377	0.001000	0.12720	0.002000	0.10522	0.021000	0.10359	0.775000	0.26689	0.252000	0.21531	0.459000	0.35465	AAT	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	63	0.00	0	T	NM_001081		16878371	16878371	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	0.001	A
CXorf57	55086	genome.wustl.edu	37	X	105868340	105868340	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:105868340C>G	ENST00000372548.4	+	3	916	c.807C>G	c.(805-807)gaC>gaG	p.D269E	CXorf57_ENST00000372544.2_Missense_Mutation_p.D269E	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	269							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTTGCTGACAGTTCAGGCA	0.363																																						dbGAP											0													172.0	143.0	153.0					X																	105868340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.807C>G	X.37:g.105868340C>G	ENSP00000361628:p.Asp269Glu		H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.D269E	ENST00000372548.4	37	c.807	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803234	0.50315	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.69040	-0.32;-0.37;-0.16	3.99	2.18	0.27775	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.052550	0.64402	D	0.000001	T	0.74321	0.3701	M	0.66939	2.045	0.28515	N	0.913331	D;D;D	0.76494	0.994;0.999;0.994	D;D;P	0.67103	0.915;0.949;0.888	T	0.66732	-0.5849	10	0.72032	D	0.01	-13.0599	6.4805	0.22060	0.0:0.5536:0.0:0.4464	.	269;269;269	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	E	269;269;77	ENSP00000361623:D269E;ENSP00000361628:D269E;ENSP00000405866:D77E	ENSP00000361623:D269E	D	+	3	2	CXorf57	105754996	0.994000	0.37717	0.729000	0.30791	0.982000	0.71751	1.268000	0.33062	0.279000	0.22186	-0.199000	0.12753	GAC	CXorf57	-	superfamily_NA-bd_OB-fold-like	ENSG00000147231		0.363	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	318	0.00	0	C	NM_018015		105868340	105868340	+1	no_errors	ENST00000372548	ensembl	human	known	69_37n	missense	49	43.68	38	SNP	0.594	G
DHX30	22907	genome.wustl.edu	37	3	47891166	47891166	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:47891166G>C	ENST00000445061.1	+	21	3645	c.3238G>C	c.(3238-3240)Gtc>Ctc	p.V1080L	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.V1041L|DHX30_ENST00000348968.4_Missense_Mutation_p.V1052L|DHX30_ENST00000457607.1_Missense_Mutation_p.V1108L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1080						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTTCATGGCAGTCAAGTCCAA	0.627																																						dbGAP											0													92.0	83.0	86.0					3																	47891166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3238G>C	3.37:g.47891166G>C	ENSP00000405620:p.Val1080Leu		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1080L	ENST00000445061.1	37	c.3238	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833318	0.50951	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03635	3.87;3.86;3.87;3.86	5.03	5.03	0.67393	Domain of unknown function DUF1605 (1);	0.068851	0.56097	D	0.000022	T	0.07773	0.0195	M	0.69248	2.105	0.53688	D	0.999976	B;B	0.26258	0.145;0.057	B;B	0.26416	0.069;0.032	T	0.08659	-1.0711	10	0.52906	T	0.07	.	17.3489	0.87317	0.0:0.0:1.0:0.0	.	1080;1041	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	L	1041;1080;1052;1108	ENSP00000392601:V1041L;ENSP00000405620:V1080L;ENSP00000343442:V1052L;ENSP00000394682:V1108L	ENSP00000343442:V1052L	V	+	1	0	DHX30	47866170	1.000000	0.71417	0.986000	0.45419	0.964000	0.63967	4.555000	0.60767	2.315000	0.78130	0.561000	0.74099	GTC	DHX30	-	pfam_DUF1605	ENSG00000132153		0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	164	0.00	0	G	NM_138615		47891166	47891166	+1	no_errors	ENST00000445061	ensembl	human	known	69_37n	missense	158	40.60	108	SNP	0.994	C
DIRAS2	54769	genome.wustl.edu	37	9	93375798	93375798	+	Silent	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr9:93375798G>A	ENST00000375765.3	-	2	700	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	104					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TGATCTCGCAGATTTGTTCGT	0.592																																						dbGAP											0													109.0	93.0	98.0					9																	93375798		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.312C>T	9.37:g.93375798G>A			B3KVM2	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I104	ENST00000375765.3	37	c.312	CCDS6687.1	9																																																																																			DIRAS2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000165023		0.592	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS2	HGNC	protein_coding	OTTHUMT00000053012.1	88	0.00	0	G			93375798	93375798	-1	no_errors	ENST00000375765	ensembl	human	known	69_37n	silent	89	23.28	27	SNP	1.000	A
DMD	1756	genome.wustl.edu	37	X	32305754	32305754	+	Missense_Mutation	SNP	G	G	T	rs398124005		TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:32305754G>T	ENST00000357033.4	-	43	6388	c.6182C>A	c.(6181-6183)gCa>gAa	p.A2061E	DMD_ENST00000378677.2_Missense_Mutation_p.A2057E	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	2061					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)				TTGCAATGCTGCTGTCTTCTT	0.363																																						dbGAP											0													127.0	101.0	110.0					X																	32305754		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6182C>A	X.37:g.32305754G>T	ENSP00000354923:p.Ala2061Glu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.A2061E	ENST00000357033.4	37	c.6182	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.647295	0.00792	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.43688	0.94;0.94	4.36	3.48	0.39840	.	0.221622	0.22311	U	0.061724	T	0.32823	0.0842	L	0.38175	1.15	0.80722	D	1	B;B;P;B;B	0.35468	0.447;0.01;0.503;0.004;0.004	B;B;B;B;B	0.39971	0.21;0.005;0.315;0.004;0.003	T	0.07046	-1.0793	10	0.02654	T	1	.	13.7931	0.63155	0.0:0.1506:0.8494:0.0	.	2053;2061;2057;720;717	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	E	2053;720;717;2057;2061;2061;1938	ENSP00000367948:A2057E;ENSP00000354923:A2061E	ENSP00000354923:A2061E	A	-	2	0	DMD	32215675	1.000000	0.71417	0.406000	0.26421	0.184000	0.23303	3.059000	0.49947	0.950000	0.37743	-0.217000	0.12591	GCA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	205	0.00	0	G	NM_004006		32305754	32305754	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	44	13.73	7	SNP	0.998	T
ECE1	1889	genome.wustl.edu	37	1	21585236	21585238	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:21585236_21585238delAGA	ENST00000374893.6	-	6	784_786	c.710_712delTCT	c.(709-714)ttctct>tct	p.F237del	ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000436918.2_In_Frame_Del_p.F237del|ECE1_ENST00000415912.2_In_Frame_Del_p.F221del|ECE1_ENST00000264205.6_In_Frame_Del_p.F234del|ECE1_ENST00000357071.4_In_Frame_Del_p.F225del	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	237					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ACATAGACAGAGAAGAAGGGTGA	0.606																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.710_712delTCT	1.37:g.21585239_21585241delAGA	ENSP00000364028:p.Phe237del		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	In_Frame_Del	DEL	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.F237in_frame_del	ENST00000374893.6	37	c.712_710	CCDS215.1	1																																																																																			ECE1	-	pfam_Peptidase_M13_N	ENSG00000117298		0.606	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	390	0.00	0	AGA	NM_001397		21585236	21585238	-1	no_errors	ENST00000374893	ensembl	human	known	69_37n	in_frame_del	281	45.19	235	DEL	1.000:1.000:1.000	-
EFEMP1	2202	genome.wustl.edu	37	2	56149540	56149540	+	Silent	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr2:56149540C>T	ENST00000394555.2	-	2	471	c.36G>A	c.(34-36)ctG>ctA	p.L12L	EFEMP1_ENST00000424836.2_5'UTR|EFEMP1_ENST00000394554.1_Silent_p.L12L|EFEMP1_ENST00000497698.1_5'Flank|EFEMP1_ENST00000355426.3_Silent_p.L12L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	12					epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGACCAGCGCCAGAGTCAGCA	0.428																																					GBM(92;934 1319 7714 28760 40110)	dbGAP											0													165.0	151.0	156.0					2																	56149540		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.36G>A	2.37:g.56149540C>T			A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.L12	ENST00000394555.2	37	c.36	CCDS1857.1	2																																																																																			EFEMP1	-	NULL	ENSG00000115380		0.428	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	287	0.00	0	C			56149540	56149540	-1	no_errors	ENST00000355426	ensembl	human	known	69_37n	silent	333	14.18	55	SNP	1.000	T
ELP3	55140	genome.wustl.edu	37	8	27995267	27995267	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr8:27995267delC	ENST00000256398.8	+	10	1336	c.959delC	c.(958-960)accfs	p.T320fs	ELP3_ENST00000521015.1_Frame_Shift_Del_p.T306fs|ELP3_ENST00000380353.4_Frame_Shift_Del_p.T228fs|ELP3_ENST00000524103.1_Frame_Shift_Del_p.T248fs|ELP3_ENST00000542181.1_Frame_Shift_Del_p.T191fs|ELP3_ENST00000537665.1_Frame_Shift_Del_p.T201fs	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	320					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CTCTATCCTACCCTGGTGATT	0.448																																						dbGAP											0													113.0	111.0	111.0					8																	27995267		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.959delC	8.37:g.27995267delC	ENSP00000256398:p.Thr320fs		B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Frame_Shift_Del	DEL	pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	p.L321fs	ENST00000256398.8	37	c.959	CCDS6065.1	8																																																																																			ELP3	-	smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,tigrfam_Hist_AcTrfase_ELP3	ENSG00000134014		0.448	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP3	HGNC	protein_coding	OTTHUMT00000219963.2	115	0.00	0	C	NM_018091		27995267	27995267	+1	no_errors	ENST00000256398	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
FRG1B	284802	genome.wustl.edu	37	20	29632638	29632638	+	Missense_Mutation	SNP	C	C	A	rs9647043	byFrequency	TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr20:29632638C>A	ENST00000278882.3	+	8	833	c.453C>A	c.(451-453)caC>caA	p.H151Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.H151Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	151										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCCAAGACCACAAACTTAAAA	0.294																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.453C>A	20.37:g.29632638C>A	ENSP00000278882:p.His151Gln		C4AME5	Missense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.H151Q	ENST00000278882.3	37	c.453		20	.	.	.	.	.	.	.	.	.	.	c	7.065	0.567065	0.13560	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.44	0.459	0.16678	.	0.391955	0.28360	N	0.015622	T	0.23370	0.0565	.	.	.	0.19945	N	0.99994	B	0.19331	0.035	B	0.14578	0.011	T	0.11012	-1.0605	8	0.30078	T	0.28	.	5.6181	0.17442	0.0:0.799:0.0:0.201	rs9647043;rs57196803	151	Q9BZ01	FRG1B_HUMAN	Q	151	.	ENSP00000278882:H151Q	H	+	3	2	FRG1B	28246299	0.988000	0.35896	0.998000	0.56505	0.964000	0.63967	0.124000	0.15728	0.179000	0.19938	0.398000	0.26397	CAC	FRG1B	-	pfam_FRG1	ENSG00000149531		0.294	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	26	0.00	0	C	NR_003579		29632638	29632638	+1	no_errors	ENST00000278882	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.999	A
HAVCR1	26762	genome.wustl.edu	37	5	156456795	156456795	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr5:156456795G>A	ENST00000522693.1	-	8	1341	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	HAVCR1_ENST00000425854.1_Missense_Mutation_p.S337F|HAVCR1_ENST00000523175.1_Silent_p.V348V|HAVCR1_ENST00000544197.1_Silent_p.V348V|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000339252.3_Silent_p.V348V			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCTGCTTGGACTTCCTTTT	0.383																																						dbGAP											0													152.0	133.0	139.0					5																	156456795		1870	4086	5956	-	-	-	SO:0001583	missense	0			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000522693.1:c.1010C>T	5.37:g.156456795G>A	ENSP00000428524:p.Ser337Phe		O43656	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S337F	ENST00000522693.1	37	c.1010		5	.	.	.	.	.	.	.	.	.	.	G	1.227	-0.625261	0.03610	.	.	ENSG00000113249	ENST00000522693;ENST00000425854	T;T	0.25250	1.81;1.81	3.94	2.14	0.27477	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	P	0.50943	0.94	P	0.48952	0.596	T	0.12604	-1.0541	8	0.72032	D	0.01	0.0145	4.7529	0.13070	0.1099:0.0:0.6768:0.2133	.	337	E9PFX0	.	F	337	ENSP00000428524:S337F;ENSP00000403333:S337F	ENSP00000403333:S337F	S	-	2	0	HAVCR1	156389373	0.048000	0.20356	0.001000	0.08648	0.001000	0.01503	1.413000	0.34725	0.630000	0.30394	0.655000	0.94253	TCC	HAVCR1	-	NULL	ENSG00000113249		0.383	HAVCR1-002	PUTATIVE	basic	protein_coding	HAVCR1	HGNC	protein_coding	OTTHUMT00000373697.1	300	0.33	1	G			156456795	156456795	-1	no_errors	ENST00000425854	ensembl	human	known	69_37n	missense	124	10.14	14	SNP	0.001	A
HTR3D	200909	genome.wustl.edu	37	3	183756031	183756031	+	Intron	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:183756031C>T	ENST00000382489.3	+	6	879				HTR3D_ENST00000428798.2_Missense_Mutation_p.R247C|HTR3D_ENST00000334128.2_Missense_Mutation_p.R122C|HTR3D_ENST00000453435.1_Missense_Mutation_p.R76C	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TTCACTAGTACGTCCTCATCC	0.507																																						dbGAP											0													119.0	105.0	110.0					3																	183756031		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.879+4C>T	3.37:g.183756031C>T			C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.R247C	ENST00000382489.3	37	c.739	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	c	13.15	2.151365	0.38021	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000453435	T;T;T	0.76060	-0.8;-0.99;-0.71	3.35	-3.4	0.04853	.	.	.	.	.	T	0.47544	0.1451	N	0.08118	0	0.24522	N	0.994156	B;B;B	0.17465	0.022;0.022;0.022	B;B;B	0.14578	0.011;0.011;0.011	T	0.25363	-1.0134	9	0.45353	T	0.12	.	3.9951	0.09554	0.1582:0.2135:0.0:0.6283	.	122;76;122	Q70Z44-2;Q70Z44-3;F6WC43	.;.;.	C	122;247;76	ENSP00000334315:R122C;ENSP00000405409:R247C;ENSP00000389268:R76C	ENSP00000334315:R122C	R	+	1	0	HTR3D	185238725	0.270000	0.24152	0.539000	0.28077	0.012000	0.07955	-0.688000	0.05150	-0.659000	0.05359	-1.380000	0.01176	CGT	HTR3D	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000186090		0.507	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	398	0.00	0	C	NM_182537		183756031	183756031	+1	no_errors	ENST00000428798	ensembl	human	known	69_37n	missense	488	19.07	115	SNP	0.702	T
IFT74	80173	genome.wustl.edu	37	9	26984316	26984316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr9:26984316delA	ENST00000443698.1	+	5	538	c.367delA	c.(367-369)aatfs	p.N123fs	IFT74_ENST00000380062.5_Frame_Shift_Del_p.N123fs|IFT74_ENST00000429045.2_Frame_Shift_Del_p.N123fs|IFT74_ENST00000433700.1_Frame_Shift_Del_p.N123fs	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	123					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGAAATGTACAATCAAGAGAA	0.264																																						dbGAP											0													38.0	40.0	39.0					9																	26984316		1796	4034	5830	-	-	-	SO:0001589	frameshift_variant	0			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.367delA	9.37:g.26984316delA	ENSP00000404122:p.Asn123fs		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Frame_Shift_Del	DEL	NULL	p.N123fs	ENST00000443698.1	37	c.367	CCDS43793.1	9																																																																																			IFT74	-	NULL	ENSG00000096872		0.264	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2	44	0.00	0	A	NM_025103		26984316	26984316	+1	no_errors	ENST00000380062	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	1.000	-
ITSN2	50618	genome.wustl.edu	37	2	24494778	24494779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr2:24494778_24494779insA	ENST00000355123.4	-	19	2556_2557	c.2113_2114insT	c.(2113-2115)aaafs	p.K705fs	ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.K678fs|ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.K705fs|SCARNA21_ENST00000515996.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	705					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					aagattttctttccataagttt	0.302																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2113_2114insT	2.37:g.24494778_24494779insA	ENSP00000347244:p.Lys705fs		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.K705fs	ENST00000355123.4	37	c.2114_2113	CCDS1710.2	2																																																																																			ITSN2	-	NULL	ENSG00000198399		0.302	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	66	0.00	0	-	NM_006277		24494778	24494779	-1	no_errors	ENST00000355123	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.829:0.981	A
ITSN2	50618	genome.wustl.edu	37	2	24494798	24494799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr2:24494798_24494799insC	ENST00000355123.4	-	19	2536_2537	c.2093_2094insG	c.(2092-2094)caafs	p.Q698fs	ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.Q671fs|ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.Q698fs|SCARNA21_ENST00000515996.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	698					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tttcttttccttgctttgcttt	0.307																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2093_2094insG	2.37:g.24494798_24494799insC	ENSP00000347244:p.Gln698fs		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.G699fs	ENST00000355123.4	37	c.2094_2093	CCDS1710.2	2																																																																																			ITSN2	-	NULL	ENSG00000198399		0.307	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	52	0.00	0	-	NM_006277		24494798	24494799	-1	no_errors	ENST00000355123	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	1.000:1.000	C
KCP	375616	genome.wustl.edu	37	7	128542848	128542848	+	RNA	SNP	G	G	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr7:128542848G>T	ENST00000476647.2	-	0	856							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						GGCAGATTCGGCAGGGGTCCC	0.597																																						dbGAP											0													68.0	88.0	82.0					7																	128542848		692	1591	2283	-	-	-			0			AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128542848G>T			Q8NBE0	RNA	SNP	-	NULL	ENST00000476647.2	37	NULL		7																																																																																			KCP	-	-	ENSG00000135253		0.597	KCP-006	KNOWN	basic	processed_transcript	KCP	HGNC	processed_transcript	OTTHUMT00000403051.1	172	0.00	0	G	NM_199349		128542848	128542848	-1	no_errors	ENST00000257704	ensembl	human	known	69_37n	rna	137	17.37	29	SNP	0.994	T
KIAA2022	340533	genome.wustl.edu	37	X	73961157	73961157	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:73961157G>T	ENST00000055682.6	-	3	3846	c.3235C>A	c.(3235-3237)Ctt>Att	p.L1079I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1079					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGAGGGGAAAGACTAGGGGTG	0.488																																						dbGAP											0													86.0	83.0	84.0					X																	73961157		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3235C>A	X.37:g.73961157G>T	ENSP00000055682:p.Leu1079Ile		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.L1079I	ENST00000055682.6	37	c.3235	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109309	0.37242	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.38401	1.14;1.14	5.28	4.4	0.53042	.	0.206935	0.41938	N	0.000798	T	0.31263	0.0791	L	0.32530	0.975	0.53005	D	0.999966	D	0.55605	0.972	B	0.42771	0.397	T	0.10405	-1.0631	10	0.72032	D	0.01	-5.0271	14.4752	0.67541	0.0:0.0:0.8519:0.1481	.	1079	Q5QGS0	K2022_HUMAN	I	1079	ENSP00000362567:L1079I;ENSP00000055682:L1079I	ENSP00000055682:L1079I	L	-	1	0	KIAA2022	73877882	1.000000	0.71417	0.905000	0.35620	0.994000	0.84299	5.172000	0.65003	0.979000	0.38497	0.600000	0.82982	CTT	KIAA2022	-	NULL	ENSG00000050030		0.488	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	80	0.00	0	G	NM_001008537		73961157	73961157	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	T
KIAA1210	57481	genome.wustl.edu	37	X	118239020	118239020	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:118239020C>A	ENST00000402510.2	-	7	1002	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	335										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GACTCATCATCGAGAGAGATT	0.463																																						dbGAP											0													148.0	144.0	145.0					X																	118239020		1919	4132	6051	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1003G>T	X.37:g.118239020C>A	ENSP00000384670:p.Asp335Tyr		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.D335Y	ENST00000402510.2	37	c.1003	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024334	0.35701	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.16457	2.34	4.55	1.74	0.24563	.	.	.	.	.	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.70935	0.971	T	0.15178	-1.0446	9	0.87932	D	0	.	6.4613	0.21958	0.0:0.6462:0.0:0.3538	.	335	Q9ULL0	K1210_HUMAN	Y	335;171	ENSP00000384670:D335Y	ENSP00000396164:D171Y	D	-	1	0	RP13-347D8.5;RP13-347D8.6	118123048	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.213000	0.17521	0.095000	0.17434	0.506000	0.49869	GAT	KIAA1210	-	NULL	ENSG00000250423		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	137	0.00	0	C	NM_020721		118239020	118239020	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	0.000	A
KLF15	28999	genome.wustl.edu	37	3	126062722	126062722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:126062722C>A	ENST00000296233.3	-	3	1329	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	367					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CGCGACAGCTCGTCAGAGCGC	0.672																																						dbGAP											0													32.0	28.0	29.0					3																	126062722		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1099G>T	3.37:g.126062722C>A	ENSP00000296233:p.Glu367*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E367*	ENST00000296233.3	37	c.1099	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.090179	0.98648	.	.	ENSG00000163884	ENST00000296233	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.8427	0.78861	0.0:1.0:0.0:0.0	.	.	.	.	X	367	.	ENSP00000296233:E367X	E	-	1	0	KLF15	127545412	1.000000	0.71417	0.976000	0.42696	0.946000	0.59487	7.761000	0.85260	2.327000	0.79052	0.491000	0.48974	GAG	KLF15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000163884		0.672	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	28	0.00	0	C	NM_014079		126062722	126062722	-1	no_errors	ENST00000296233	ensembl	human	known	69_37n	nonsense	34	49.25	33	SNP	1.000	A
LAMA1	284217	genome.wustl.edu	37	18	7033069	7033069	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr18:7033069C>A	ENST00000389658.3	-	15	2170	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	693	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTAGAGCTGGCTATGTCCAGA	0.517																																						dbGAP											0													104.0	77.0	86.0					18																	7033069		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2077G>T	18.37:g.7033069C>A	ENSP00000374309:p.Ala693Ser			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.A693S	ENST00000389658.3	37	c.2077	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994831	0.74703	.	.	ENSG00000101680	ENST00000389658	T	0.54279	0.58	6.07	6.07	0.98685	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.73855	-0.3851	10	0.40728	T	0.16	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	693	P25391	LAMA1_HUMAN	S	693	ENSP00000374309:A693S	ENSP00000374309:A693S	A	-	1	0	LAMA1	7023069	1.000000	0.71417	0.344000	0.25628	0.081000	0.17604	7.642000	0.83385	2.884000	0.98904	0.655000	0.94253	GCC	LAMA1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000101680		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	174	0.00	0	C	NM_005559		7033069	7033069	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	missense	102	31.54	47	SNP	0.996	A
LEPREL1	55214	genome.wustl.edu	37	3	189681772	189681772	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:189681772G>C	ENST00000319332.5	-	14	2206	c.2009C>G	c.(2008-2010)aCc>aGc	p.T670S	LEPREL1_ENST00000427335.2_Missense_Mutation_p.T489S	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	670	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGTCCAAGGTGAACCACAG	0.483																																						dbGAP											0													120.0	115.0	117.0					3																	189681772		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.2009C>G	3.37:g.189681772G>C	ENSP00000316881:p.Thr670Ser		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.T670S	ENST00000319332.5	37	c.2009	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982068	0.74474	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.59772	0.24;0.24	5.91	5.03	0.67393	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.088438	0.85682	D	0.000000	T	0.75413	0.3846	M	0.73598	2.24	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	T	0.76995	-0.2752	9	.	.	.	-24.0324	15.567	0.76300	0.0:0.0:0.8612:0.1388	.	670	Q8IVL5	P3H2_HUMAN	S	670;489	ENSP00000316881:T670S;ENSP00000408947:T489S	.	T	-	2	0	LEPREL1	191164466	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	9.430000	0.97488	1.479000	0.48272	-0.182000	0.12963	ACC	LEPREL1	-	smart_Pro_4_hyd_alph	ENSG00000090530		0.483	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	92	0.00	0	G	NM_018192		189681772	189681772	-1	no_errors	ENST00000319332	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	1.000	C
LPHN3	23284	genome.wustl.edu	37	4	62936207	62936207	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr4:62936207C>A	ENST00000514591.1	+	25	4320	c.3991C>A	c.(3991-3993)Ccc>Acc	p.P1331T	RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000507625.1_Missense_Mutation_p.P1390T|LPHN3_ENST00000508946.1_Missense_Mutation_p.P1374T|LPHN3_ENST00000506700.1_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000512091.2_3'UTR|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000514996.1_Missense_Mutation_p.P1365T|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.P1442T|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.P1433T|LPHN3_ENST00000545650.1_Missense_Mutation_p.P1331T|LPHN3_ENST00000511324.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1309					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						TCCTTTGCTGCCCCCAAGAGT	0.512																																						dbGAP											0													74.0	67.0	69.0					4																	62936207		692	1591	2283	-	-	-	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		ENST00000514591.1:c.3991C>A	4.37:g.62936207C>A	ENSP00000422533:p.Pro1331Thr		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.P1390T	ENST00000514591.1	37	c.4168	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.528878|3.528878	0.64860|0.64860	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T	.|0.79940	.|-1.26;-1.26;-1.32;-0.93;-0.96;-0.98;-0.95	5.53|5.53	5.53|5.53	0.82687|0.82687	.|GPCR, family 2, latrophilin, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89511|0.89511	0.6736|0.6736	M|M	0.71581|0.71581	2.175|2.175	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	0.89111|0.89111	0.3496|0.3496	5|10	.|0.51188	.|T	.|0.08	.|.	19.4474|19.4474	0.94852|0.94852	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1331;1309	.|E9PE04;Q9HAR2	.|.;LPHN3_HUMAN	D|T	779|1331;1331;1309;1390;1374;1442;1433;1365	.|ENSP00000422533:P1331T;ENSP00000439831:P1331T;ENSP00000421372:P1390T;ENSP00000421627:P1374T;ENSP00000420931:P1442T;ENSP00000425884:P1433T;ENSP00000424258:P1365T	.|ENSP00000295349:P1309T	A|P	+|+	2|1	0|0	LPHN3|LPHN3	62618802|62618802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.487000|7.487000	0.81328|0.81328	2.614000|2.614000	0.88457|0.88457	0.591000|0.591000	0.81541|0.81541	GCC|CCC	LPHN3	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000150471		0.512	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	106	0.00	0	C			62936207	62936207	+1	no_errors	ENST00000507625	ensembl	human	known	69_37n	missense	39	26.42	14	SNP	1.000	A
MAGEB1	4112	genome.wustl.edu	37	X	30269554	30269555	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:30269554_30269555CC>AA	ENST00000378981.3	+	4	1265_1266	c.944_945CC>AA	c.(943-945)gCC>gAA	p.A315E	MAGEB1_ENST00000397550.1_Missense_Mutation_p.A315E|MAGEB1_ENST00000397548.2_Missense_Mutation_p.A315E	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	315										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GAAGAGAGAGCCCAAGTCCGAT	0.535																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	Exception_encountered	X.37:g.30269554_30269555delinsAA	ENSP00000368264:p.Ala315Glu		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation|Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A315D|p.A315	ENST00000378981.3	37	c.944|c.945	CCDS14222.1	X																																																																																			MAGEB1	-	NULL	ENSG00000214107		0.535	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	105|100	0.00	0	C	NM_002363		30269554|30269555	30269554|30269555	+1	no_errors	ENST00000378981	ensembl	human	known	69_37n	missense|silent	51	43.96	40	SNP	0.001|0.000	A
MAPRE2	10982	genome.wustl.edu	37	18	32720267	32720267	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr18:32720267C>A	ENST00000300249.5	+	7	1098	c.918C>A	c.(916-918)caC>caA	p.H306Q	MAPRE2_ENST00000413393.1_Missense_Mutation_p.H263Q|MAPRE2_ENST00000436190.2_Missense_Mutation_p.H294Q|MAPRE2_ENST00000538170.2_Missense_Mutation_p.H253Q|MAPRE2_ENST00000589699.1_Missense_Mutation_p.H263Q	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	306	DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGGAGGGCCACACAGAAGAGC	0.602																																						dbGAP											0													76.0	83.0	80.0					18																	32720267		2201	4300	6501	-	-	-	SO:0001583	missense	0			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.918C>A	18.37:g.32720267C>A	ENSP00000300249:p.His306Gln		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.H306Q	ENST00000300249.5	37	c.918	CCDS11910.1	18	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327755	0.24080	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.41065	1.02;1.01;1.02;1.01	5.42	4.52	0.55395	EB1, C-terminal (1);	0.374549	0.30620	N	0.009221	T	0.48295	0.1492	N	0.25647	0.755	0.33160	D	0.546808	B;P;P	0.47106	0.0;0.89;0.824	B;D;P	0.66497	0.0;0.944;0.88	T	0.55958	-0.8058	10	0.23302	T	0.38	-9.5546	13.5595	0.61779	0.156:0.844:0.0:0.0	.	294;253;306	E9PHR3;F5H1V8;Q15555	.;.;MARE2_HUMAN	Q	263;294;306;253	ENSP00000396074:H263Q;ENSP00000407723:H294Q;ENSP00000300249:H306Q;ENSP00000446343:H253Q	ENSP00000300249:H306Q	H	+	3	2	MAPRE2	30974265	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.023000	0.41040	1.210000	0.43336	0.563000	0.77884	CAC	MAPRE2	-	NULL	ENSG00000166974		0.602	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	MAPRE2	HGNC	protein_coding	OTTHUMT00000255753.2	111	0.00	0	C	NM_014268		32720267	32720267	+1	no_errors	ENST00000300249	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	A
MED14	9282	genome.wustl.edu	37	X	40573796	40573796	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:40573796C>T	ENST00000324817.1	-	4	633	c.515G>A	c.(514-516)tGc>tAc	p.C172Y		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	172					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCCTAATGCAGGTTGGCAG	0.443																																						dbGAP											0													90.0	71.0	78.0					X																	40573796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.515G>A	X.37:g.40573796C>T	ENSP00000323720:p.Cys172Tyr		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.C172Y	ENST00000324817.1	37	c.515	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	23.1	4.368983	0.82463	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.76838	2.35	0.80722	D	1	P	0.40515	0.719	P	0.48141	0.568	T	0.75436	-0.3318	9	0.48119	T	0.1	.	18.0532	0.89356	0.0:1.0:0.0:0.0	.	172	O60244	MED14_HUMAN	Y	172	.	ENSP00000323720:C172Y	C	-	2	0	MED14	40458740	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.487000	0.81328	2.197000	0.70478	0.529000	0.55759	TGC	MED14	-	pfam_Mediator_Med14	ENSG00000180182		0.443	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	128	0.00	0	C	NM_004229		40573796	40573796	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	missense	57	29.63	24	SNP	1.000	T
MLLT4	4301	genome.wustl.edu	37	6	168291556	168291556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr6:168291556delC	ENST00000447894.2	+	8	1024	c.1024delC	c.(1024-1026)cagfs	p.Q342fs	MLLT4_ENST00000400822.3_Frame_Shift_Del_p.Q341fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.Q342fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.Q342fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.Q342fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.Q342fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.Q341fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	342	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTTAGTCTTTCAGTTGAAGAG	0.507			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													78.0	75.0	76.0					6																	168291556		2203	4296	6499	-	-	-	SO:0001589	frameshift_variant	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1024delC	6.37:g.168291556delC	ENSP00000404595:p.Gln342fs		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q342fs	ENST00000447894.2	37	c.1024		6																																																																																			MLLT4	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000130396		0.507	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	64	0.00	0	C	NM_005936		168291556	168291556	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
MSANTD1	345222	genome.wustl.edu	37	4	3255096	3255096	+	Silent	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr4:3255096G>A	ENST00000438480.2	+	2	2230	c.483G>A	c.(481-483)tcG>tcA	p.S161S	MSANTD1_ENST00000507492.1_Silent_p.S148S|MSANTD1_ENST00000510580.1_Silent_p.S161S	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	161								p.S161S(1)		endometrium(1)|lung(2)	3						CGTCCCTGTCGCCGCCCGCTA	0.632																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											86.0	88.0	87.0					4																	3255096		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.483G>A	4.37:g.3255096G>A			C9J6V0	Silent	SNP	NULL	p.S161	ENST00000438480.2	37	c.483	CCDS47003.1	4																																																																																			MSANTD1	-	NULL	ENSG00000188981		0.632	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD1	HGNC	protein_coding	OTTHUMT00000370924.1	43	0.00	0	G	NM_001012982		3255096	3255096	+1	no_errors	ENST00000438480	ensembl	human	known	69_37n	silent	52	22.39	15	SNP	0.998	A
NLRP7	199713	genome.wustl.edu	37	19	55451245	55451245	+	Silent	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr19:55451245C>T	ENST00000590030.1	-	3	982	c.942G>A	c.(940-942)caG>caA	p.Q314Q	NLRP7_ENST00000328092.5_Silent_p.Q314Q|NLRP7_ENST00000446217.1_Silent_p.Q342Q|NLRP7_ENST00000592784.1_Silent_p.Q314Q|NLRP7_ENST00000588756.1_Silent_p.Q314Q|NLRP7_ENST00000448121.2_Silent_p.Q314Q|NLRP7_ENST00000340844.2_Silent_p.Q314Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	314	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						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)		AGATCGGCTGCTGCGCCAGGA	0.612																																						dbGAP											0													38.0	39.0	39.0					19																	55451245		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.942G>A	19.37:g.55451245C>T			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q342	ENST00000590030.1	37	c.1026	CCDS33109.1	19																																																																																			NLRP7	-	pfscan_NACHT_NTPase	ENSG00000167634		0.612	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	117	0.00	0	C	NM_139176		55451245	55451245	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	silent	80	27.43	31	SNP	0.000	T
NOMO2	283820	genome.wustl.edu	37	16	18542797	18542797	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr16:18542797A>C	ENST00000381474.3	-	13	1593	c.1528T>G	c.(1528-1530)Tct>Gct	p.S510A	NOMO2_ENST00000543392.1_Missense_Mutation_p.S343A|NOMO2_ENST00000330537.6_Missense_Mutation_p.S510A	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	510						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CCCAAACAAGAGACTTTCCCA	0.448																																						dbGAP											0													144.0	122.0	129.0					16																	18542797		2196	4291	6487	-	-	-	SO:0001583	missense	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1528T>G	16.37:g.18542797A>C	ENSP00000370883:p.Ser510Ala		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.S510A	ENST00000381474.3	37	c.1528	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	12.61	1.989087	0.35131	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04234	3.71;3.67;3.7	3.13	3.13	0.36017	.	0.139653	0.50627	D	0.000102	T	0.05547	0.0146	M	0.62723	1.935	0.51233	D	0.999917	B;B	0.34015	0.435;0.255	B;B	0.29598	0.104;0.071	T	0.37197	-0.9716	10	0.15066	T	0.55	-17.2554	10.9539	0.47345	1.0:0.0:0.0:0.0	.	343;510	Q4G177;Q5JPE7	.;NOMO2_HUMAN	A	510;510;343	ENSP00000331851:S510A;ENSP00000370883:S510A;ENSP00000439970:S343A	ENSP00000331851:S510A	S	-	1	0	NOMO2	18450298	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.227000	0.51262	1.408000	0.46895	0.374000	0.22700	TCT	NOMO2	-	NULL	ENSG00000185164		0.448	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	1048	0.00	0	A	NM_001004060		18542797	18542797	-1	no_errors	ENST00000381474	ensembl	human	known	69_37n	missense	605	26.72	221	SNP	1.000	C
OFD1	8481	genome.wustl.edu	37	X	13764997	13764997	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:13764997A>T	ENST00000340096.6	+	8	1080	c.753A>T	c.(751-753)aaA>aaT	p.K251N	OFD1_ENST00000380550.3_Missense_Mutation_p.K251N|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.K111N|OFD1_ENST00000398395.3_Missense_Mutation_p.K251N	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	251					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATTTTGAAAAAGCTTGTCAAG	0.333																																						dbGAP											0													65.0	64.0	64.0					X																	13764997		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.753A>T	X.37:g.13764997A>T	ENSP00000344314:p.Lys251Asn		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.K251N	ENST00000340096.6	37	c.753	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	A	10.55	1.382554	0.25031	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.96651	-3.98;-3.76;-4.08;-2.01	5.32	2.86	0.33363	.	0.720299	0.14374	N	0.323565	D	0.93549	0.7941	L	0.34521	1.04	0.09310	N	1	B;D;P;B;P	0.54772	0.057;0.968;0.804;0.225;0.935	B;P;P;B;P	0.54372	0.025;0.75;0.545;0.07;0.568	D	0.86167	0.1597	10	0.41790	T	0.15	-0.7074	0.1929	0.00136	0.3404:0.2042:0.2501:0.2053	.	114;251;251;111;251	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	N	251;251;251;111;114	ENSP00000369923:K251N;ENSP00000381432:K251N;ENSP00000344314:K251N;ENSP00000369941:K111N	ENSP00000344314:K251N	K	+	3	2	OFD1	13674918	0.028000	0.19301	0.000000	0.03702	0.044000	0.14063	2.487000	0.45268	0.639000	0.30564	0.441000	0.28932	AAA	OFD1	-	NULL	ENSG00000046651		0.333	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	27	0.00	0	A	NM_003611		13764997	13764997	+1	no_errors	ENST00000340096	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.001	T
OCRL	4952	genome.wustl.edu	37	X	128709149	128709149	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:128709149A>T	ENST00000371113.4	+	16	1800	c.1635A>T	c.(1633-1635)aaA>aaT	p.K545N	OCRL_ENST00000357121.5_Missense_Mutation_p.K545N	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	545	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGTACCGGAAAGTCTTTGAAG	0.413																																						dbGAP											0													214.0	174.0	188.0					X																	128709149		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1635A>T	X.37:g.128709149A>T	ENSP00000360154:p.Lys545Asn		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K545N	ENST00000371113.4	37	c.1635	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069852	0.76301	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95482	-3.72;-3.72	5.89	2.27	0.28462	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.78456	2.415	0.58432	D	0.999997	D;P	0.71674	0.998;0.611	P;B	0.59424	0.857;0.207	D	0.94311	0.7545	10	0.72032	D	0.01	.	6.7494	0.23480	0.4181:0.0:0.5819:0.0	.	545;545	Q01968-2;Q01968	.;OCRL_HUMAN	N	545	ENSP00000360154:K545N;ENSP00000349635:K545N	ENSP00000349635:K545N	K	+	3	2	OCRL	128536830	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	0.997000	0.29731	0.329000	0.23460	0.441000	0.28932	AAA	OCRL	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000122126		0.413	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	481	0.00	0	A	NM_000276		128709149	128709149	+1	no_errors	ENST00000371113	ensembl	human	known	69_37n	missense	201	39.27	130	SNP	1.000	T
OR7A17	26333	genome.wustl.edu	37	19	14992035	14992035	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr19:14992035T>C	ENST00000327462.2	-	1	229	c.133A>G	c.(133-135)Atc>Gtc	p.I45V		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GCCAGGATGATGAGCAGATTC	0.498																																						dbGAP											0													62.0	53.0	56.0					19																	14992035		2203	4296	6499	-	-	-	SO:0001583	missense	0			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.133A>G	19.37:g.14992035T>C	ENSP00000328144:p.Ile45Val		Q6IFQ6|Q96R98	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I45V	ENST00000327462.2	37	c.133	CCDS12319.1	19	.	.	.	.	.	.	.	.	.	.	t	13.48	2.249651	0.39797	.	.	ENSG00000185385	ENST00000327462	T	0.00512	6.89	2.74	0.383	0.16239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	U	0.001809	T	0.00936	0.0031	M	0.86268	2.805	0.20764	N	0.999856	P	0.45474	0.859	P	0.50754	0.649	T	0.42599	-0.9442	10	0.72032	D	0.01	.	4.4447	0.11591	0.1934:0.0:0.1997:0.6068	.	45	O14581	OR7AH_HUMAN	V	45	ENSP00000328144:I45V	ENSP00000328144:I45V	I	-	1	0	OR7A17	14853035	0.000000	0.05858	1.000000	0.80357	0.792000	0.44763	-0.130000	0.10498	0.024000	0.15214	0.324000	0.21423	ATC	OR7A17	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000185385		0.498	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A17	HGNC	protein_coding	OTTHUMT00000466523.1	99	0.00	0	T	NM_030901		14992035	14992035	-1	no_errors	ENST00000327462	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	0.848	C
OR8I2	120586	genome.wustl.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A	rs577866623		TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20053	0.0		0.001	False		,,,				2504	0.0					dbGAP											15	Substitution - coding silent(15)	endometrium(15)											87.0	85.0	86.0					11																	55861593		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.810G>A	11.37:g.55861593G>A			B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A270	ENST00000302124.2	37	c.810	CCDS31517.1	11																																																																																			OR8I2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172154		0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		127	0.00	0	G	NM_001003750		55861593	55861593	+1	no_errors	ENST00000302124	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	0.001	A
OSBPL8	114882	genome.wustl.edu	37	12	76769099	76769099	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr12:76769099G>T	ENST00000261183.3	-	17	2260	c.1781C>A	c.(1780-1782)aCa>aAa	p.T594K	OSBPL8_ENST00000393250.4_Missense_Mutation_p.T552K|OSBPL8_ENST00000393249.2_Missense_Mutation_p.T552K	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	594					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTTTGACATGTAATATTGAC	0.318																																						dbGAP											0													121.0	115.0	117.0					12																	76769099		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1781C>A	12.37:g.76769099G>T	ENSP00000261183:p.Thr594Lys		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T594K	ENST00000261183.3	37	c.1781	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654195	0.47362	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.42	5.42	0.78866	.	0.103704	0.64402	D	0.000003	T	0.25568	0.0622	L	0.28649	0.875	0.58432	D	0.999998	B;B	0.14012	0.001;0.009	B;B	0.17098	0.004;0.017	T	0.07214	-1.0784	10	0.13470	T	0.59	-10.8579	19.5736	0.95432	0.0:0.0:1.0:0.0	.	569;594	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	K	552;594;579;552;594;594;569	ENSP00000376939:T552K;ENSP00000261183:T594K;ENSP00000376940:T552K;ENSP00000450238:T594K;ENSP00000447893:T569K	ENSP00000261183:T594K	T	-	2	0	OSBPL8	75293230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.061000	0.57485	2.707000	0.92482	0.591000	0.81541	ACA	OSBPL8	-	pfam_Oxysterol-bd	ENSG00000091039		0.318	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	191	0.00	0	G	NM_020841		76769099	76769099	-1	no_errors	ENST00000261183	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	T
PCDHB12	56124	genome.wustl.edu	37	5	140590645	140590645	+	Silent	SNP	C	C	A	rs369250986		TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr5:140590645C>A	ENST00000239450.2	+	1	2355	c.2166C>A	c.(2164-2166)gtC>gtA	p.V722V	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Silent_p.V385V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	722					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)			CGGCCCCGGTCGGTCGCTGCT	0.657																																						dbGAP											0													69.0	78.0	75.0					5																	140590645		2203	4300	6503	-	-	-	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.2166C>A	5.37:g.140590645C>A			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V722	ENST00000239450.2	37	c.2166	CCDS4254.1	5																																																																																			PCDHB12	-	NULL	ENSG00000120328		0.657	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	47	0.00	0	C	NM_018932		140590645	140590645	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	silent	48	39.24	31	SNP	0.000	A
PCNXL2	80003	genome.wustl.edu	37	1	233398910	233398911	+	Splice_Site	INS	-	-	AAA			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:233398910_233398911insAAA	ENST00000258229.9	-	2	388		c.e2-1		PCNXL2_ENST00000430153.1_Splice_Site	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							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)				GAGGAAAAGCCTGAAGAAAGGA	0.327																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_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.154-1->TTT	1.37:g.233398910_233398911insAAA			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Splice_Site	INS	-	e2-1	ENST00000258229.9	37	c.154-2_154-1	CCDS44335.1	1																																																																																			PCNXL2	-	-	ENSG00000135749		0.327	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	70	0.00	0	-	NM_014801	Intron	233398910	233398911	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	splice_site_ins	17	22.73	5	INS	1.000:0.996	AAA
PDE10A	10846	genome.wustl.edu	37	6	165749696	165749696	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr6:165749696C>A	ENST00000366882.1	-	22	2307	c.2153G>T	c.(2152-2154)gGg>gTg	p.G718V	PDE10A_ENST00000539869.2_Missense_Mutation_p.G728V|PDE10A_ENST00000354448.4_Missense_Mutation_p.G718V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	718					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ATTGTAGAACCCAAGCTGCCT	0.458																																					Esophageal Squamous(22;308 615 5753 12038 40624)	dbGAP											0													69.0	65.0	66.0					6																	165749696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2153G>T	6.37:g.165749696C>A	ENSP00000355847:p.Gly718Val		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G728V	ENST00000366882.1	37	c.2183		6	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876481	0.91664	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.81579	-1.51;-1.51	5.4	5.4	0.78164	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89870	0.6840	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.961	D	0.90609	0.4550	10	0.87932	D	0	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	728;718	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	718;746;728;718;717	ENSP00000355847:G718V;ENSP00000346435:G718V	ENSP00000341187:G728V	G	-	2	0	PDE10A	165669686	1.000000	0.71417	0.721000	0.30653	0.926000	0.56050	7.075000	0.76798	2.681000	0.91329	0.655000	0.94253	GGG	PDE10A	-	pfam_PDEase_catalytic_dom	ENSG00000112541		0.458	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	143	0.00	0	C			165749696	165749696	-1	no_errors	ENST00000539869	ensembl	human	known	69_37n	missense	78	30.36	34	SNP	1.000	A
C10orf55	414236	genome.wustl.edu	37	10	75672712	75672712	+	Intron	SNP	G	G	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr10:75672712G>A	ENST00000409178.1	-	3	301				PLAU_ENST00000372764.3_Missense_Mutation_p.G75D|PLAU_ENST00000446342.1_Missense_Mutation_p.G58D|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.G39D	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GAGGGGAATGGTCACTTTTAC	0.478																																						dbGAP											0													62.0	58.0	59.0					10																	75672712		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+88C>T	10.37:g.75672712G>A			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G75D	ENST00000409178.1	37	c.224	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965449	0.92855	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.85088	-1.94;-1.94;-1.94	5.78	5.78	0.91487	Kringle (5);Kringle-like fold (1);	0.169439	0.51477	D	0.000087	D	0.94863	0.8340	H	0.96430	3.82	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	D;D;D;D	0.87578	0.956;0.998;0.994;0.998	D	0.95956	0.8958	10	0.87932	D	0	.	15.5068	0.75748	0.0:0.0:1.0:0.0	.	58;39;75;75	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	D	58;75;39;39	ENSP00000388474:G58D;ENSP00000361850:G75D;ENSP00000361848:G39D	ENSP00000361847:G39D	G	+	2	0	PLAU	75342718	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.365000	0.79537	2.731000	0.93534	0.650000	0.86243	GGT	PLAU	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000122861		0.478	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1	117	0.00	0	G	NM_001001791		75672712	75672712	+1	no_errors	ENST00000372764	ensembl	human	known	69_37n	missense	97	39.38	63	SNP	0.998	A
RAB9B	51209	genome.wustl.edu	37	X	103080361	103080361	+	Silent	SNP	G	G	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:103080361G>T	ENST00000243298.2	-	3	638	c.354C>A	c.(352-354)ccC>ccA	p.P118P		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	118					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GAACTACAAAGGGGAAATGCT	0.463																																						dbGAP											0													187.0	184.0	185.0					X																	103080361		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.354C>A	X.37:g.103080361G>T			B2R8M0|Q52LX2	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,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.P118	ENST00000243298.2	37	c.354	CCDS14515.1	X																																																																																			RAB9B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000123570		0.463	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9B	HGNC	protein_coding	OTTHUMT00000057746.1	125	0.00	0	G			103080361	103080361	-1	no_errors	ENST00000243298	ensembl	human	known	69_37n	silent	40	42.86	30	SNP	0.998	T
RNF123	63891	genome.wustl.edu	37	3	49758302	49758302	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:49758302C>T	ENST00000327697.6	+	37	3857	c.3713C>T	c.(3712-3714)tCt>tTt	p.S1238F	GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000535833.1_5'UTR|AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.S350F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1238	Poly-Ala.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCTCTGCATCTGCCCAGGCA	0.572																																						dbGAP											0													115.0	114.0	114.0					3																	49758302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3713C>T	3.37:g.49758302C>T	ENSP00000328287:p.Ser1238Phe		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.S1238F	ENST00000327697.6	37	c.3713	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488875	0.84962	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T	0.73789	-0.78	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	M	0.67953	2.075	0.54753	D	0.999986	D	0.61080	0.989	P	0.53912	0.737	T	0.82566	-0.0393	10	0.52906	T	0.07	-16.3458	16.5221	0.84320	0.0:1.0:0.0:0.0	.	1238	Q5XPI4	RN123_HUMAN	F	1238;1238;350	ENSP00000328287:S1238F	ENSP00000328287:S1238F	S	+	2	0	RNF123	49733306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.282000	0.58971	2.481000	0.83766	0.561000	0.74099	TCT	RNF123	-	NULL	ENSG00000164068		0.572	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	109	0.00	0	C	NM_022064		49758302	49758302	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	missense	140	18.60	32	SNP	1.000	T
RPGR	6103	genome.wustl.edu	37	X	38145246	38145247	+	Intron	INS	-	-	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:38145246_38145247insC	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Frame_Shift_Ins_p.E1002fs|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ctccctctccttcttcctcccc	0.609																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1099->G	X.37:g.38145246_38145247insC			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Frame_Shift_Ins	INS	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G1003fs	ENST00000339363.3	37	c.3006_3005		X																																																																																			RPGR	-	NULL	ENSG00000156313		0.609	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		115	0.00	0	-	NM_000328		38145246	38145247	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	frame_shift_ins	47	31.88	22	INS	0.930:0.939	C
SCAPER	49855	genome.wustl.edu	37	15	77067311	77067311	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr15:77067311G>C	ENST00000563290.1	-	9	1015	c.920C>G	c.(919-921)cCt>cGt	p.P307R	SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.P307R|SCAPER_ENST00000538941.2_Missense_Mutation_p.P61R			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	307						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTTTCATCAGGTAAAAGACA	0.378																																						dbGAP											0													168.0	165.0	166.0					15																	77067311		1877	4101	5978	-	-	-	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.920C>G	15.37:g.77067311G>C	ENSP00000454973:p.Pro307Arg		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.P307R	ENST00000563290.1	37	c.920	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115516	0.37339	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25749	1.78;1.78	5.76	2.84	0.33178	.	0.324917	0.37530	N	0.002059	T	0.25938	0.0632	M	0.65975	2.015	0.09310	N	0.999998	P;P;P	0.43633	0.631;0.813;0.631	B;B;B	0.39465	0.216;0.3;0.189	T	0.13872	-1.0493	10	0.56958	D	0.05	.	9.4054	0.38457	0.2212:0.0:0.7788:0.0	.	307;322;61	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	R	307;61;323	ENSP00000326924:P307R;ENSP00000442190:P61R	ENSP00000303560:P323R	P	-	2	0	SCAPER	74854366	0.763000	0.28462	0.222000	0.23844	0.900000	0.52787	2.100000	0.41777	0.764000	0.33197	0.650000	0.86243	CCT	SCAPER	-	NULL	ENSG00000140386		0.378	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	250	0.00	0	G	NM_020843		77067311	77067311	-1	no_errors	ENST00000324767	ensembl	human	known	69_37n	missense	75	35.04	41	SNP	0.040	C
KHNYN	23351	genome.wustl.edu	37	14	24910883	24910883	+	IGR	DEL	C	C	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr14:24910883delC	ENST00000251343.5	+	0	6225				SDR39U1_ENST00000555561.1_5'Flank|SDR39U1_ENST00000399395.3_Frame_Shift_Del_p.V109fs|SDR39U1_ENST00000555365.1_5'UTR|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000554698.1_Intron|SDR39U1_ENST00000399390.1_5'Flank|SDR39U1_ENST00000538105.2_Intron			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGCGTACCTACACCTGTGACT	0.557																																						dbGAP											0													47.0	39.0	41.0					14																	24910883		1884	4096	5980	-	-	-	SO:0001628	intergenic_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			14.37:g.24910883delC			Q86TZ6|Q8IUQ2|Q96BA9	Frame_Shift_Del	DEL	pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put	p.V109fs	ENST00000251343.5	37	c.325	CCDS32058.1	14																																																																																			SDR39U1	-	pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put	ENSG00000100445		0.557	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDR39U1	HGNC	protein_coding	OTTHUMT00000412928.1	63	0.00	0	C			24910883	24910883	-1	no_errors	ENST00000399395	ensembl	human	known	69_37n	frame_shift_del	59	29.41	25	DEL	1.000	-
SHOX2	6474	genome.wustl.edu	37	3	157823481	157823481	+	Silent	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:157823481C>T	ENST00000425436.3	-	1	358	c.333G>A	c.(331-333)ccG>ccA	p.P111P	SHOX2_ENST00000389589.4_Silent_p.P111P|SHOX2_ENST00000483851.2_Silent_p.P111P|RSRC1_ENST00000480820.1_5'Flank|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000490689.2_5'Flank	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	111					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCGTCAGTCGCGGGCTGCCCG	0.721																																						dbGAP											0													4.0	6.0	6.0					3																	157823481		1884	3968	5852	-	-	-	SO:0001819	synonymous_variant	0			AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.333G>A	3.37:g.157823481C>T			O60465|O60467|O60903	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.A15T	ENST00000425436.3	37	c.43	CCDS43164.1	3	.	.	.	.	.	.	.	.	.	.	C	7.638	0.680184	0.14907	.	.	ENSG00000168779	ENST00000555977	.	.	.	3.44	1.42	0.22433	.	.	.	.	.	T	0.54759	0.1878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48559	-0.9025	4	.	.	.	.	7.1897	0.25818	0.0:0.6487:0.2401:0.1112	.	.	.	.	T	15	.	.	A	-	1	0	SHOX2	159306175	0.929000	0.31497	1.000000	0.80357	0.695000	0.40330	0.245000	0.18142	0.774000	0.33427	-0.448000	0.05591	GCG	SHOX2	-	NULL	ENSG00000168779		0.721	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHOX2	HGNC	protein_coding	OTTHUMT00000352057.2	21	0.00	0	C			157823481	157823481	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000555977	ensembl	human	putative	69_37n	missense	21	40.00	14	SNP	1.000	T
SIAH1	6477	genome.wustl.edu	37	16	48396255	48396255	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr16:48396255T>C	ENST00000380006.2	-	1	1538	c.85A>G	c.(85-87)Act>Gct	p.T29A	SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Missense_Mutation_p.T29A|SIAH1_ENST00000356721.3_Missense_Mutation_p.T60A			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	29					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TTGGATGCAGTTGTGCCAGTC	0.488																																						dbGAP											0													97.0	86.0	90.0					16																	48396255		2200	4300	6500	-	-	-	SO:0001583	missense	0			U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.85A>G	16.37:g.48396255T>C	ENSP00000369343:p.Thr29Ala		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH	p.T60A	ENST00000380006.2	37	c.178	CCDS10735.1	16	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624645	0.28889	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	.	.	.	5.5	5.5	0.81552	Zinc finger, RING/FYVE/PHD-type (1);	0.061993	0.64402	U	0.000006	T	0.34424	0.0897	N	0.10760	0.04	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.29761	-1.0001	9	0.05525	T	0.97	-7.623	15.5965	0.76587	0.0:0.0:0.0:1.0	.	29;60	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	A	60;29;45	.	ENSP00000349156:T60A	T	-	1	0	SIAH1	46953756	1.000000	0.71417	0.904000	0.35570	0.970000	0.65996	6.276000	0.72601	2.094000	0.63399	0.533000	0.62120	ACT	SIAH1	-	NULL	ENSG00000196470		0.488	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	SIAH1	HGNC	protein_coding	OTTHUMT00000256842.12	193	0.51	1	T			48396255	48396255	-1	no_errors	ENST00000356721	ensembl	human	known	69_37n	missense	143	20.99	38	SNP	1.000	C
SKIL	6498	genome.wustl.edu	37	3	170102343	170102343	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:170102343A>G	ENST00000458537.3	+	3	1928	c.1219A>G	c.(1219-1221)Aaa>Gaa	p.K407E	SKIL_ENST00000413427.2_Missense_Mutation_p.K407E|SKIL_ENST00000426052.2_Missense_Mutation_p.K387E|SKIL_ENST00000259119.4_Missense_Mutation_p.K407E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	407					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CATGTGTGATAAAGTGGTTGC	0.338																																						dbGAP											0													131.0	122.0	125.0					3																	170102343		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1219A>G	3.37:g.170102343A>G	ENSP00000415243:p.Lys407Glu		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.K407E	ENST00000458537.3	37	c.1219	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593457	0.86953	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.93133	-3.17;-3.16;-3.08;-3.17	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.91023	0.7176	M	0.61703	1.905	0.44976	D	0.997995	P;P	0.48230	0.487;0.907	B;B	0.37943	0.122;0.261	D	0.90092	0.4178	10	0.27082	T	0.32	-27.8477	16.5479	0.84454	1.0:0.0:0.0:0.0	.	407;407	P12757-3;P12757	.;SKIL_HUMAN	E	407;387;407;407	ENSP00000259119:K407E;ENSP00000406520:K387E;ENSP00000400193:K407E;ENSP00000415243:K407E	ENSP00000259119:K407E	K	+	1	0	SKIL	171585037	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.348000	0.73009	2.371000	0.80710	0.533000	0.62120	AAA	SKIL	-	NULL	ENSG00000136603		0.338	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	157	0.00	0	A	NM_005414		170102343	170102343	+1	no_errors	ENST00000259119	ensembl	human	known	69_37n	missense	101	38.41	63	SNP	1.000	G
SLC16A12	387700	genome.wustl.edu	37	10	91198597	91198597	+	Silent	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr10:91198597C>T	ENST00000341233.4	-	6	1092	c.702G>A	c.(700-702)caG>caA	p.Q234Q	SLC16A12_ENST00000371790.4_Silent_p.Q264Q	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGAGGCAAGTCTGTGCCCATT	0.453																																						dbGAP											0													122.0	109.0	114.0					10																	91198597		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.702G>A	10.37:g.91198597C>T			Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q264	ENST00000341233.4	37	c.792		10																																																																																			SLC16A12	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000152779		0.453	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	SLC16A12	HGNC	protein_coding		156	0.00	0	C	NM_213606		91198597	91198597	-1	no_errors	ENST00000371790	ensembl	human	known	69_37n	silent	17	48.48	16	SNP	0.001	T
SMG9	56006	genome.wustl.edu	37	19	44254812	44254812	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr19:44254812G>T	ENST00000270066.6	-	2	424	c.82C>A	c.(82-84)Ccc>Acc	p.P28T	SMG9_ENST00000601170.1_Missense_Mutation_p.P28T	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	28					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						AGATTCTGGGGGCCACCAGAG	0.582																																						dbGAP											0													73.0	77.0	75.0					19																	44254812		1927	4112	6039	-	-	-	SO:0001583	missense	0			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.82C>A	19.37:g.44254812G>T	ENSP00000270066:p.Pro28Thr		O60429|Q9H9A9	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.P28T	ENST00000270066.6	37	c.82	CCDS33043.2	19	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724149	0.68959	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	T	0.51618	0.1685	N	0.14661	0.345	0.44366	D	0.997265	D;P	0.55385	0.971;0.952	P;P	0.55455	0.776;0.601	T	0.50118	-0.8865	8	0.36615	T	0.2	-9.8472	17.8571	0.88767	0.0:0.0:1.0:0.0	.	28;28	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	T	28	.	ENSP00000270066:P28T	P	-	1	0	SMG9	48946652	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.970000	0.70431	2.826000	0.97356	0.561000	0.74099	CCC	SMG9	-	NULL	ENSG00000105771		0.582	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG9	HGNC	protein_coding	OTTHUMT00000317668.1	88	0.00	0	G	NM_019108		44254812	44254812	-1	no_errors	ENST00000270066	ensembl	human	known	69_37n	missense	30	70.87	73	SNP	1.000	T
SOX14	8403	genome.wustl.edu	37	3	137484051	137484051	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:137484051C>T	ENST00000306087.1	+	1	473	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	142					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CTGGACCCCGCGCAGTTTAGC	0.716																																						dbGAP											0													13.0	15.0	15.0					3																	137484051		2192	4285	6477	-	-	-	SO:0001583	missense	0			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.425C>T	3.37:g.137484051C>T	ENSP00000305343:p.Ala142Val		B2RAC0|Q3KPH7	Missense_Mutation	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A142V	ENST00000306087.1	37	c.425	CCDS3094.1	3	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553522	0.45487	.	.	ENSG00000168875	ENST00000306087	D	0.96774	-4.12	4.57	3.66	0.41972	.	0.399767	0.26251	N	0.025457	D	0.87881	0.6289	N	0.03608	-0.345	0.31635	N	0.648606	B	0.27700	0.186	B	0.17098	0.017	D	0.86671	0.1910	10	0.36615	T	0.2	.	11.633	0.51187	0.0:0.5961:0.4038:0.0	.	142	O95416	SOX14_HUMAN	V	142	ENSP00000305343:A142V	ENSP00000305343:A142V	A	+	2	0	SOX14	138966741	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.607000	0.61133	2.379000	0.81126	0.407000	0.27541	GCG	SOX14	-	NULL	ENSG00000168875		0.716	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX14	HGNC	protein_coding	OTTHUMT00000357182.1	13	0.00	0	C	NM_004189		137484051	137484051	+1	no_errors	ENST00000306087	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	T
SPATA4	132851	genome.wustl.edu	37	4	177113974	177113974	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr4:177113974delA	ENST00000280191.2	-	4	600	c.492delT	c.(490-492)tttfs	p.F164fs	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	164						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TGAAATTCACAAAGTCATCCT	0.318																																						dbGAP											0													52.0	51.0	52.0					4																	177113974		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.492delT	4.37:g.177113974delA	ENSP00000280191:p.Phe164fs		Q8NCS5|Q8WW15	Frame_Shift_Del	DEL	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain	p.F164fs	ENST00000280191.2	37	c.492	CCDS3826.1	4																																																																																			SPATA4	-	pfam_DUF1042	ENSG00000150628		0.318	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA4	HGNC	protein_coding	OTTHUMT00000362326.1	37	0.00	0	A	NM_144644		177113974	177113974	-1	no_errors	ENST00000280191	ensembl	human	known	69_37n	frame_shift_del	25	34.21	13	DEL	0.000	-
STAC	6769	genome.wustl.edu	37	3	36547281	36547281	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:36547281delC	ENST00000273183.3	+	8	1175	c.875delC	c.(874-876)gccfs	p.A292fs	STAC_ENST00000457375.2_Frame_Shift_Del_p.A231fs	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	292	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ACCTATGTTGCCTTGTACAAA	0.318																																						dbGAP											0													55.0	59.0	58.0					3																	36547281		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.875delC	3.37:g.36547281delC	ENSP00000273183:p.Ala292fs		B2R8S8	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L293fs	ENST00000273183.3	37	c.875	CCDS2662.1	3																																																																																			STAC	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain	ENSG00000144681		0.318	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	67	0.00	0	C	NM_003149		36547281	36547281	+1	no_errors	ENST00000273183	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	1.000	-
THOC2	57187	genome.wustl.edu	37	X	122755400	122755401	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:122755400_122755401insGG	ENST00000245838.8	-	31	3854_3855	c.3823_3824insCC	c.(3823-3825)aaafs	p.K1275fs	THOC2_ENST00000355725.4_Frame_Shift_Ins_p.K1275fs|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.K1160fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1275	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.K1275E(1)|p.K1196E(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ttctttctctttccctttttct	0.332																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3823_3824insCC	X.37:g.122755400_122755401insGG	ENSP00000245838:p.Lys1275fs		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Frame_Shift_Ins	INS	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.K1275fs	ENST00000245838.8	37	c.3824_3823	CCDS43988.1	X																																																																																			THOC2	-	NULL	ENSG00000125676		0.332	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	46	0.00	0	-			122755400	122755401	-1	no_errors	ENST00000245838	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	1.000:1.000	GG
THOC2	57187	genome.wustl.edu	37	X	122755418	122755419	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chrX:122755418_122755419insC	ENST00000245838.8	-	31	3836_3837	c.3805_3806insG	c.(3805-3807)aatfs	p.N1269fs	THOC2_ENST00000355725.4_Frame_Shift_Ins_p.N1269fs|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.N1154fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1269	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ttctttgtcattttctttAACA	0.292																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3805_3806insG	X.37:g.122755418_122755419insC	ENSP00000245838:p.Asn1269fs		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Frame_Shift_Ins	INS	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.N1269fs	ENST00000245838.8	37	c.3806_3805	CCDS43988.1	X																																																																																			THOC2	-	NULL	ENSG00000125676		0.292	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	31	0.00	0	-			122755418	122755419	-1	no_errors	ENST00000245838	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	C
TMEM8B	51754	genome.wustl.edu	37	9	35853682	35853682	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr9:35853682G>T	ENST00000377991.4	+	14	2279	c.1264G>T	c.(1264-1266)Ggc>Tgc	p.G422C	TMEM8B_ENST00000377988.2_Missense_Mutation_p.G422C	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	422					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GGGCAGTGTGGGCTTCCTGCT	0.582																																						dbGAP											0													87.0	88.0	88.0					9																	35853682		1964	4135	6099	-	-	-	SO:0001583	missense	0			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1264G>T	9.37:g.35853682G>T	ENSP00000367230:p.Gly422Cys		B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	pfam_DUF3522	p.G422C	ENST00000377991.4	37	c.1264	CCDS43800.1	9	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879785	0.72294	.	.	ENSG00000137103	ENST00000377991;ENST00000377988	T;T	0.44083	0.93;0.93	5.49	4.6	0.57074	.	.	.	.	.	T	0.55689	0.1936	L	0.46157	1.445	0.51767	D	0.999939	D	0.89917	1.0	D	0.97110	1.0	T	0.53337	-0.8453	9	0.39692	T	0.17	.	12.8923	0.58078	0.079:0.0:0.921:0.0	.	422	A6NDV4	TMM8B_HUMAN	C	422	ENSP00000367230:G422C;ENSP00000367227:G422C	ENSP00000367227:G422C	G	+	1	0	TMEM8B	35843682	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.819000	0.86621	1.322000	0.45245	0.555000	0.69702	GGC	TMEM8B	-	NULL	ENSG00000137103		0.582	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8B	HGNC	protein_coding	OTTHUMT00000052388.2	126	0.00	0	G	NM_016446		35853682	35853682	+1	no_errors	ENST00000377988	ensembl	human	known	69_37n	missense	54	59.09	78	SNP	1.000	T
TTYH1	57348	genome.wustl.edu	37	19	54930398	54930398	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr19:54930398C>A	ENST00000376530.3	+	2	326	c.223C>A	c.(223-225)Ccc>Acc	p.P75T	TTYH1_ENST00000376531.3_Missense_Mutation_p.P75T|TTYH1_ENST00000391739.3_Missense_Mutation_p.P124T|TTYH1_ENST00000301194.4_Missense_Mutation_p.P75T	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	75					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTGCCGGCCCCCCGAGCCCCC	0.692																																						dbGAP											0													33.0	39.0	37.0					19																	54930398		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.223C>A	19.37:g.54930398C>A	ENSP00000365713:p.Pro75Thr		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	pfam_Tweety	p.P75T	ENST00000376530.3	37	c.223	CCDS12893.1	19	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081600	0.55753	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	3.51	2.37	0.29283	.	0.204107	0.34386	N	0.004006	T	0.21509	0.0518	L	0.53249	1.67	0.31198	N	0.70016	D;D;D;D	0.89917	0.999;0.991;0.991;1.0	D;P;P;D	0.91635	0.984;0.818;0.862;0.999	T	0.03025	-1.1081	10	0.17369	T	0.5	-10.1321	9.9218	0.41468	0.2029:0.7971:0.0:0.0	.	124;75;75;75	B7Z1H9;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	T	47;71;75;75;124;124;75	ENSP00000391282:P71T;ENSP00000301194:P75T;ENSP00000365713:P75T;ENSP00000393592:P124T;ENSP00000375619:P124T;ENSP00000365714:P75T	ENSP00000301194:P75T	P	+	1	0	TTYH1	59622210	0.119000	0.22226	0.974000	0.42286	0.804000	0.45430	1.323000	0.33701	1.982000	0.57802	0.561000	0.74099	CCC	TTYH1	-	pfam_Tweety	ENSG00000167614		0.692	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	52	0.00	0	C			54930398	54930398	+1	no_errors	ENST00000376531	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.776	A
UBXN11	91544	genome.wustl.edu	37	1	26608867	26608867	+	Missense_Mutation	SNP	C	C	A	rs193142354		TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:26608867C>A	ENST00000374222.1	-	16	1950	c.1486G>T	c.(1486-1488)Ggt>Tgt	p.G496C	UBXN11_ENST00000357089.4_Missense_Mutation_p.G463C|UBXN11_ENST00000374223.1_Missense_Mutation_p.G253C|UBXN11_ENST00000314675.7_Missense_Mutation_p.G376C|UBXN11_ENST00000374217.2_Missense_Mutation_p.G463C|UBXN11_ENST00000374221.3_Missense_Mutation_p.G496C			Q5T124	UBX11_HUMAN	UBX domain protein 11	496	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactgggg	0.721																																						dbGAP											1	Deletion - In frame(1)	ovary(1)											25.0	29.0	28.0					1																	26608867		1765	4016	5781	-	-	-	SO:0001583	missense	0			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1486G>T	1.37:g.26608867C>A	ENSP00000363339:p.Gly496Cys		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.G496C	ENST00000374222.1	37	c.1486	CCDS41288.1	1	261	0.11950549450549451	72	0.14634146341463414	35	0.09668508287292818	16	0.027972027972027972	138	0.1820580474934037	A	8.132	0.783217	0.16189	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.23950	1.88;1.96;2.3;2.24;2.24;2.3	.	.	.	.	.	.	.	.	T	0.00073	0.0002	N	0.22421	0.69	0.58432	P	2.9999999999752447E-6	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;P	0.65323	0.934;0.934;0.934;0.861	T	0.12578	-1.0542	7	0.66056	D	0.02	.	6.1326	0.20213	0.0:0.6805:0.3194:0.0	.	463;458;376;496	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	C	376;253;463;496;496;463	ENSP00000324721:G376C;ENSP00000363340:G253C;ENSP00000349601:G463C;ENSP00000363338:G496C;ENSP00000363339:G496C;ENSP00000363334:G463C	ENSP00000324721:G376C	G	-	1	0	UBXN11	26481454	0.000000	0.05858	0.121000	0.21740	0.128000	0.20619	-1.193000	0.03049	0.392000	0.25172	0.391000	0.25812	GGT	UBXN11	-	NULL	ENSG00000158062		0.721	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	HGNC	protein_coding	OTTHUMT00000009500.1	8	0.00	0	C	NM_145345		26608867	26608867	-1	no_errors	ENST00000374221	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	0.010	A
UGT1A6	54578	genome.wustl.edu	37	2	234681013	234681013	+	Silent	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr2:234681013C>T	ENST00000305139.6	+	5	1546	c.1407C>T	c.(1405-1407)ggC>ggT	p.G469G	UGT1A1_ENST00000609637.1_Silent_p.G467G|UGT1A10_ENST00000344644.5_Silent_p.G467G|UGT1A6_ENST00000373424.1_Silent_p.G202G|UGT1A1_ENST00000373450.4_Silent_p.G467G|UGT1A3_ENST00000482026.1_Silent_p.G471G|UGT1A9_ENST00000354728.4_Silent_p.G467G|UGT1A1_ENST00000609767.1_Silent_p.G471G|UGT1A5_ENST00000373414.3_Silent_p.G471G|UGT1A4_ENST00000373409.3_Silent_p.G471G|UGT1A1_ENST00000608381.1_Silent_p.G471G|UGT1A8_ENST00000305208.5_Silent_p.G470G|UGT1A1_ENST00000608383.1_Silent_p.G470G|UGT1A7_ENST00000373426.3_Silent_p.G467G	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	469					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G467G(4)|p.G471G(3)|p.G469G(1)|p.G470G(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGCACAAGGGCGCGCCACACC	0.627																																						dbGAP											9	Substitution - coding silent(9)	lung(9)											124.0	107.0	113.0					2																	234681013		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1407C>T	2.37:g.234681013C>T			A6NKK6|B8K289|Q96TE7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.G471	ENST00000305139.6	37	c.1413	CCDS2507.1	2																																																																																			UGT1A4	-	pfam_UDP_glucos_trans	ENSG00000244474		0.627	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130988.1	216	0.00	0	C	NM_205862		234681013	234681013	+1	no_errors	ENST00000373409	ensembl	human	known	69_37n	silent	161	47.23	145	SNP	0.978	T
WBSCR17	64409	genome.wustl.edu	37	7	71036313	71036313	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr7:71036313T>A	ENST00000333538.5	+	6	1640	c.1006T>A	c.(1006-1008)Ttc>Atc	p.F336I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	336	Catalytic subdomain B.				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)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAACAGGAAGTTCTTCGGTGA	0.507																																						dbGAP											0													223.0	211.0	215.0					7																	71036313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1006T>A	7.37:g.71036313T>A	ENSP00000329654:p.Phe336Ile		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F336I	ENST00000333538.5	37	c.1006	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733440	0.89482	.	.	ENSG00000185274	ENST00000333538	T	0.58652	0.32	5.16	5.16	0.70880	.	0.051249	0.85682	D	0.000000	T	0.62146	0.2404	M	0.80616	2.505	0.53688	D	0.999972	P	0.41188	0.741	B	0.41135	0.348	T	0.69606	-0.5100	10	0.87932	D	0	.	12.4881	0.55885	0.0:0.0:0.0:1.0	.	336	Q6IS24	GLTL3_HUMAN	I	336	ENSP00000329654:F336I	ENSP00000329654:F336I	F	+	1	0	WBSCR17	70674249	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.868000	0.75516	2.171000	0.68590	0.519000	0.50382	TTC	WBSCR17	-	NULL	ENSG00000185274		0.507	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	463	0.00	0	T	NM_022479		71036313	71036313	+1	no_errors	ENST00000333538	ensembl	human	known	69_37n	missense	189	33.45	95	SNP	1.000	A
WISP1	8840	genome.wustl.edu	37	8	134232988	134232988	+	Missense_Mutation	SNP	C	C	T	rs201917230		TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr8:134232988C>T	ENST00000250160.6	+	3	620	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	172	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCACCCGCGGCGCGTGAGCAT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17092	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													38.0	38.0	38.0					8																	134232988		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.514C>T	8.37:g.134232988C>T	ENSP00000250160:p.Arg172Cys		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R172C	ENST00000250160.6	37	c.514	CCDS6371.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.09	1.834516	0.32421	.	.	ENSG00000104415	ENST00000250160	T	0.65732	-0.17	4.76	-0.28	0.12886	von Willebrand factor, type C (4);	0.390594	0.24136	N	0.041220	T	0.76205	0.3955	M	0.84326	2.69	0.09310	N	0.999996	D	0.76494	0.999	P	0.62885	0.908	T	0.72286	-0.4338	10	0.72032	D	0.01	-20.524	14.3517	0.66708	0.5062:0.4938:0.0:0.0	.	172	O95388	WISP1_HUMAN	C	172	ENSP00000250160:R172C	ENSP00000250160:R172C	R	+	1	0	WISP1	134302170	0.994000	0.37717	0.001000	0.08648	0.001000	0.01503	1.435000	0.34969	0.037000	0.15575	-0.319000	0.08680	CGC	WISP1	-	pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000104415		0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP1	HGNC	protein_coding	OTTHUMT00000378794.2	49	0.00	0	C	NM_003882		134232988	134232988	+1	no_errors	ENST00000250160	ensembl	human	known	69_37n	missense	170	40.56	116	SNP	0.007	T
WSB1	26118	genome.wustl.edu	37	17	25637136	25637136	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr17:25637136C>G	ENST00000262394.2	+	7	1250	c.934C>G	c.(934-936)Cgg>Ggg	p.R312G	WSB1_ENST00000348811.2_Missense_Mutation_p.R166G	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	312					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGCAAATGACCGGTGGGTACG	0.418																																						dbGAP											0													181.0	153.0	163.0					17																	25637136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.934C>G	17.37:g.25637136C>G	ENSP00000262394:p.Arg312Gly		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,prints_G-protein_beta_WD-40_rep,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R312G	ENST00000262394.2	37	c.934	CCDS11220.1	17	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825211	0.32237	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	T;T	0.57595	0.39;0.39	5.93	-0.7	0.11273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.086036	0.49305	D	0.000150	T	0.19604	0.0471	N	0.02202	-0.64	0.54753	D	0.999982	B;B	0.09022	0.001;0.002	B;B	0.12837	0.005;0.008	T	0.04708	-1.0932	10	0.14656	T	0.56	-10.7884	6.4947	0.22136	0.3375:0.4926:0.1057:0.0642	.	166;312	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	G	312;166	ENSP00000262394:R312G;ENSP00000327055:R166G	ENSP00000262394:R312G	R	+	1	2	WSB1	22661263	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.577000	0.36515	0.027000	0.15297	0.655000	0.94253	CGG	WSB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109046		0.418	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSB1	HGNC	protein_coding	OTTHUMT00000255391.4	374	0.00	0	C	NM_015626		25637136	25637136	+1	no_errors	ENST00000262394	ensembl	human	known	69_37n	missense	336	17.04	69	SNP	1.000	G
XDH	7498	genome.wustl.edu	37	2	31605877	31605877	+	Missense_Mutation	SNP	T	T	A	rs201352323		TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr2:31605877T>A	ENST00000379416.3	-	11	1076	c.1028A>T	c.(1027-1029)aAg>aTg	p.K343M	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	343	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CGCCACAGACTTGACTTGCTT	0.562																																					Colon(66;682 1445 30109 40147)	dbGAP											0													71.0	65.0	67.0					2																	31605877		2203	4300	6503	-	-	-	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1028A>T	2.37:g.31605877T>A	ENSP00000368727:p.Lys343Met		Q16681|Q16712|Q4PJ16	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_Xanthine_DH_ssu	p.K343M	ENST00000379416.3	37	c.1028	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981068	0.74474	.	.	ENSG00000158125	ENST00000379416	T	0.24908	1.83	5.65	5.65	0.86999	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.044791	0.85682	D	0.000000	T	0.51822	0.1697	M	0.88906	2.99	0.50313	D	0.999861	D	0.76494	0.999	D	0.70227	0.968	T	0.59857	-0.7375	10	0.87932	D	0	.	6.4124	0.21698	0.0:0.198:0.0:0.802	.	343	P47989	XDH_HUMAN	M	343	ENSP00000368727:K343M	ENSP00000368727:K343M	K	-	2	0	XDH	31459381	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	4.811000	0.62606	2.155000	0.67459	0.368000	0.22195	AAG	XDH	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.562	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	72	0.00	0	T	NM_000379		31605877	31605877	-1	no_errors	ENST00000379416	ensembl	human	known	69_37n	missense	50	42.53	37	SNP	1.000	A
ZBBX	79740	genome.wustl.edu	37	3	167045735	167045736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr3:167045735_167045736insC	ENST00000392766.2	-	11	1196_1197	c.856_857insG	c.(856-858)gtafs	p.V286fs	ZBBX_ENST00000307529.5_Frame_Shift_Ins_p.V286fs|ZBBX_ENST00000455345.2_Frame_Shift_Ins_p.V286fs|ZBBX_ENST00000392767.2_Frame_Shift_Ins_p.V286fs|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Frame_Shift_Ins_p.V257fs	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	286						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						CATACCTTTTACTGCTGCATGT	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.857dupG	3.37:g.167045736_167045736dupC	ENSP00000376519:p.Val286fs		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Frame_Shift_Ins	INS	pfam_Znf_B-box	p.V286fs	ENST00000392766.2	37	c.857_856	CCDS3199.2	3																																																																																			ZBBX	-	NULL	ENSG00000169064		0.416	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	170	0.00	0	-	NM_024687		167045735	167045736	-1	no_errors	ENST00000307529	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.211:0.086	C
ZFYVE9	9372	genome.wustl.edu	37	1	52703400	52703400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr1:52703400delG	ENST00000371591.1	+	3	442	c.311delG	c.(310-312)tggfs	p.W104fs	ZFYVE9_ENST00000357206.2_Frame_Shift_Del_p.W104fs|ZFYVE9_ENST00000287727.3_Frame_Shift_Del_p.W104fs	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	104					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						GCCACAATGTGGATTGATGAA	0.443																																						dbGAP											0													83.0	83.0	83.0					1																	52703400		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.311delG	1.37:g.52703400delG	ENSP00000360647:p.Trp104fs		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Frame_Shift_Del	DEL	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.W104fs	ENST00000371591.1	37	c.311	CCDS563.1	1																																																																																			ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.443	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	116	0.00	0	G	NM_007324		52703400	52703400	+1	no_errors	ENST00000287727	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
ZNF276	92822	genome.wustl.edu	37	16	89804566	89804566	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr16:89804566C>T	ENST00000443381.2	+	11	1854	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.A511V|ZNF276_ENST00000446326.2_Missense_Mutation_p.A372V	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CAGGACAAGGCCCTGCCCCTG	0.642																																						dbGAP											0													42.0	33.0	36.0					16																	89804566		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1757C>T	16.37:g.89804566C>T	ENSP00000415836:p.Ala586Val		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A586V	ENST00000443381.2	37	c.1757	CCDS45554.1	16	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301919	0.40694	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.06933	3.27;3.24;3.28	5.06	3.07	0.35406	.	0.470725	0.22214	N	0.063046	T	0.05410	0.0143	N	0.24115	0.695	0.80722	D	1	B;B;B	0.31680	0.22;0.335;0.335	B;B;B	0.18871	0.014;0.023;0.023	T	0.39702	-0.9601	10	0.66056	D	0.02	-13.0215	9.6475	0.39877	0.0:0.7796:0.1423:0.078	.	424;586;372	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	V	372;511;586	ENSP00000415999:A372V;ENSP00000289816:A511V;ENSP00000415836:A586V	ENSP00000289816:A511V	A	+	2	0	ZNF276	88332067	0.985000	0.35326	0.452000	0.26994	0.691000	0.40173	2.728000	0.47319	0.528000	0.28580	0.561000	0.74099	GCC	ZNF276	-	NULL	ENSG00000158805		0.642	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF276	HGNC	protein_coding	OTTHUMT00000422517.1	48	0.00	0	C	NM_152287		89804566	89804566	+1	no_errors	ENST00000443381	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	0.959	T
ZNF512	84450	genome.wustl.edu	37	2	27806578	27806579	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr2:27806578_27806579insA	ENST00000355467.4	+	2	167_168	c.84_85insA	c.(85-87)aagfs	p.K29fs	RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000556601.1_Intron|ZNF512_ENST00000379717.1_Frame_Shift_Ins_p.K29fs|ZNF512_ENST00000413371.2_5'UTR|ZNF512_ENST00000494548.1_Intron|ZNF512_ENST00000416005.2_Frame_Shift_Ins_p.K29fs	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	29					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)					TCGTGGGAGCTAAGAAGTAAGT	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.86dupA	2.37:g.27806580_27806580dupA	ENSP00000347648:p.Lys29fs		B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N29fs	ENST00000355467.4	37	c.84_85	CCDS1758.1	2																																																																																			ZNF512	-	NULL	ENSG00000243943		0.470	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	HGNC	protein_coding	OTTHUMT00000215029.2	424	0.00	0	-	NM_032434		27806578	27806579	+1	no_errors	ENST00000355467	ensembl	human	known	69_37n	frame_shift_ins	288	36.00	162	INS	0.988:1.000	A
ZNF778	197320	genome.wustl.edu	37	16	89294298	89294298	+	Silent	SNP	A	A	G			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr16:89294298A>G	ENST00000433976.2	+	6	1850	c.1518A>G	c.(1516-1518)gaA>gaG	p.E506E	ZNF778_ENST00000306502.6_Silent_p.E464E|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	506					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)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCCCTATGAATGTAAGGACT	0.488																																						dbGAP											0													71.0	78.0	76.0					16																	89294298		2194	4300	6494	-	-	-	SO:0001819	synonymous_variant	0			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1518A>G	16.37:g.89294298A>G			Q08AG0	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.E506	ENST00000433976.2	37	c.1518	CCDS45550.1	16																																																																																			ZNF778	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170100		0.488	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	139	0.00	0	A	NM_182531		89294298	89294298	+1	no_errors	ENST00000433976	ensembl	human	known	69_37n	silent	85	45.57	72	SNP	0.009	G
ZNF804B	219578	genome.wustl.edu	37	7	88965288	88965288	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A109-01A-11D-A10M-09	TCGA-E2-A109-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3585e133-b3c1-4d90-b5f2-2b867e0ae0ec	7826a2e6-30ae-460b-ab97-2986f1d76d4b	g.chr7:88965288C>T	ENST00000333190.4	+	4	3601	c.2992C>T	c.(2992-2994)Cca>Tca	p.P998S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	998							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)			CAGTGCAATTCCAAGGACTAC	0.358										HNSCC(36;0.09)																												dbGAP											0													82.0	81.0	82.0					7																	88965288		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2992C>T	7.37:g.88965288C>T	ENSP00000329638:p.Pro998Ser		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.P998S	ENST00000333190.4	37	c.2992	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	1.489	-0.555081	0.03967	.	.	ENSG00000182348	ENST00000333190	T	0.04360	3.64	5.34	-0.802	0.10889	.	1.134010	0.06424	N	0.722864	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46456	-0.9190	10	0.48119	T	0.1	1.8715	1.6762	0.02822	0.2016:0.207:0.3785:0.2129	.	998	A4D1E1	Z804B_HUMAN	S	998	ENSP00000329638:P998S	ENSP00000329638:P998S	P	+	1	0	ZNF804B	88803224	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	0.200000	0.17257	-0.352000	0.08237	-0.768000	0.03414	CCA	ZNF804B	-	NULL	ENSG00000182348		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	98	0.00	0	C	NM_181646		88965288	88965288	+1	no_errors	ENST00000333190	ensembl	human	known	69_37n	missense	19	50.00	19	SNP	0.000	T
