#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABHD13	84945	genome.wustl.edu	37	13	108882391	108882391	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr13:108882391G>C	ENST00000375898.3	+	2	1126	c.825G>C	c.(823-825)atG>atC	p.M275I		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	275						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CACCAGTAATGATGAAACAAC	0.388																																					Pancreas(22;506 789 38166 45896 51596)												0													94.0	95.0	95.0					13																	108882391		2203	4299	6502	SO:0001583	missense	84945			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.825G>C	13.37:g.108882391G>C	ENSP00000365063:p.Met275Ile		B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AXE1	p.M275I	ENST00000375898.3	37	c.825	CCDS32007.1	13	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034974	0.75617	.	.	ENSG00000139826	ENST00000375898	T	0.21734	1.99	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.27773	-1.0064	10	0.27082	T	0.32	-25.5793	19.5254	0.95203	0.0:0.0:1.0:0.0	.	275	Q7L211	ABHDD_HUMAN	I	275	ENSP00000365063:M275I	ENSP00000365063:M275I	M	+	3	0	ABHD13	107680392	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.745000	0.98856	2.857000	0.98124	0.650000	0.86243	ATG	ABHD13	-	NULL		0.388	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD13	HGNC	protein_coding	OTTHUMT00000045743.1	G	NM_032859		108882391	+1	no_errors	ENST00000375898	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAMTS19	171019	genome.wustl.edu	37	5	128994312	128994312	+	Missense_Mutation	SNP	A	A	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:128994312A>T	ENST00000274487.4	+	15	2434	c.2289A>T	c.(2287-2289)aaA>aaT	p.K763N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	763	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTTACAGAAAGTTGGCTGTG	0.353																																																	0													169.0	166.0	167.0					5																	128994312		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2289A>T	5.37:g.128994312A>T	ENSP00000274487:p.Lys763Asn			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K763N	ENST00000274487.4	37	c.2289	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110400	0.56398	.	.	ENSG00000145808	ENST00000274487	T	0.60424	0.19	3.89	-1.33	0.09172	.	0.069930	0.53938	D	0.000055	T	0.65091	0.2658	M	0.66297	2.02	0.41486	D	0.988194	D	0.89917	1.0	D	0.91635	0.999	T	0.61118	-0.7127	9	.	.	.	.	4.9202	0.13865	0.5532:0.0:0.3151:0.1317	.	763	Q8TE59	ATS19_HUMAN	N	763	ENSP00000274487:K763N	.	K	+	3	2	ADAMTS19	129022211	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	2.366000	0.44204	-0.226000	0.09899	0.528000	0.53228	AAA	ADAMTS19	-	prints_Peptidase_M12B_ADAM-TS		0.353	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	A	NM_133638		128994312	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	0.998	T
ADAMTS19	171019	genome.wustl.edu	37	5	129072808	129072808	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:129072808G>A	ENST00000274487.4	+	23	3666	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1174	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGTACTGCCGAGTGATACGT	0.478																																																	0													136.0	124.0	128.0					5																	129072808		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3521G>A	5.37:g.129072808G>A	ENSP00000274487:p.Arg1174Gln			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1174Q	ENST00000274487.4	37	c.3521	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207390	0.58343	.	.	ENSG00000145808	ENST00000274487	T	0.42131	0.98	4.12	4.12	0.48240	PLAC (2);	0.000000	0.52532	D	0.000072	T	0.39572	0.1083	N	0.14661	0.345	0.34972	D	0.753226	D	0.71674	0.998	P	0.60609	0.877	T	0.43426	-0.9392	9	.	.	.	.	11.2192	0.48844	0.0858:0.0:0.9142:0.0	.	1174	Q8TE59	ATS19_HUMAN	Q	1174	ENSP00000274487:R1174Q	.	R	+	2	0	ADAMTS19	129100707	0.990000	0.36364	1.000000	0.80357	0.574000	0.36063	3.173000	0.50839	2.599000	0.87857	0.650000	0.86243	CGA	ADAMTS19	-	pfam_PLAC,pfscan_PLAC		0.478	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	G	NM_133638		129072808	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	0.997	A
AFF3	3899	genome.wustl.edu	37	2	100217938	100217938	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:100217938C>T	ENST00000409236.2	-	12	1442	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	AFF3_ENST00000317233.4_Missense_Mutation_p.E444K|AFF3_ENST00000409579.1_Missense_Mutation_p.E469K|AFF3_ENST00000356421.2_Missense_Mutation_p.E469K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	444	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCCTCACTCTCGCTGGAGCTG	0.642																																																	0													18.0	19.0	19.0					2																	100217938		2202	4300	6502	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1330G>A	2.37:g.100217938C>T	ENSP00000387207:p.Glu444Lys		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E469K	ENST00000409236.2	37	c.1405	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.092577	0.94149	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000022	T	0.69342	0.3100	L	0.45581	1.43	0.58432	D	0.999995	D;D;D	0.64830	0.994;0.963;0.975	P;P;B	0.56751	0.805;0.516;0.381	T	0.65360	-0.6187	10	0.26408	T	0.33	.	18.6719	0.91514	0.0:1.0:0.0:0.0	.	597;444;469	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	K	444;469;469;444;444;597;469	ENSP00000317421:E444K;ENSP00000348793:E469K;ENSP00000386834:E469K;ENSP00000387207:E444K	ENSP00000317421:E444K	E	-	1	0	AFF3	99584370	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.996000	0.76263	2.413000	0.81919	0.579000	0.79373	GAG	AFF3	-	pfam_TF_AF4/FMR2		0.642	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	C	NM_002285		100217938	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	T
ARMC4	55130	genome.wustl.edu	37	10	28250635	28250635	+	Silent	SNP	A	A	C	rs202113129	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr10:28250635A>C	ENST00000305242.5	-	10	1340	c.1248T>G	c.(1246-1248)gcT>gcG	p.A416A	ARMC4_ENST00000239715.3_Silent_p.A273A|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Silent_p.A108A|ARMC4_ENST00000545014.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	416					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAATCTTTTCAGCACTCTTCC	0.453																																																	0													65.0	58.0	61.0					10																	28250635		2203	4297	6500	SO:0001819	synonymous_variant	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1248T>G	10.37:g.28250635A>C			A8K906|B7Z7I1|Q9H0C0	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.A416	ENST00000305242.5	37	c.1248	CCDS7157.1	10																																																																																			ARMC4	-	NULL		0.453	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	A	NM_018076		28250635	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	silent	SNP	0.002	C
ARNT2	9915	genome.wustl.edu	37	15	80762742	80762742	+	Silent	SNP	C	C	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:80762742C>A	ENST00000303329.4	+	4	543	c.378C>A	c.(376-378)ggC>ggA	p.G126G	ARNT2_ENST00000533983.1_Silent_p.G115G|ARNT2_ENST00000527771.1_Silent_p.G115G|ARNT2_ENST00000531595.3_3'UTR	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	126					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACCGATGGCGCGTACAAGC	0.572																																																	0													101.0	72.0	82.0					15																	80762742		2203	4300	6503	SO:0001819	synonymous_variant	9915			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.378C>A	15.37:g.80762742C>A			B4DIS7|O15024|Q8IYC2	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.G126	ENST00000303329.4	37	c.378	CCDS32307.1	15																																																																																			ARNT2	-	superfamily_HLH_dom		0.572	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	C			80762742	+1	no_errors	ENST00000303329	ensembl	human	known	70_37	silent	SNP	0.998	A
ASMTL	8623	genome.wustl.edu	37	X	1540565	1540565	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:1540565C>T	ENST00000381317.3	-	9	1263	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	ASMTL_ENST00000416733.2_Missense_Mutation_p.E335K|ASMTL_ENST00000381333.4_Missense_Mutation_p.E395K|ASMTL_ENST00000534940.1_Missense_Mutation_p.E353K	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	411	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACAGATCTTCCGCCTTCTTC	0.507																																																	0													229.0	243.0	239.0					X																	1540565		2018	4167	6185	SO:0001583	missense	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1231G>A	X.37:g.1540565C>T	ENSP00000370718:p.Glu411Lys		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.E411K	ENST00000381317.3	37	c.1231	CCDS43917.1	X	.	.	.	.	.	.	.	.	.	.	c	1.625	-0.520386	0.04171	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	1.58	0.29	0.15728	O-methyltransferase, family 2 (1);	0.611766	0.15026	U	0.284740	T	0.16342	0.0393	L	0.46741	1.465	0.09310	N	1	B;P;P	0.41947	0.166;0.458;0.766	B;B;B	0.34301	0.038;0.09;0.179	T	0.20638	-1.0269	10	0.15952	T	0.53	.	9.4498	0.38719	0.0:0.6097:0.3903:0.0	.	335;395;411	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	K	335;353;395;411	ENSP00000410578:E335K;ENSP00000446410:E353K;ENSP00000370734:E395K;ENSP00000370718:E411K	ENSP00000370718:E411K	E	-	1	0	ASMTL	1500565	0.004000	0.15560	0.011000	0.14972	0.046000	0.14306	0.991000	0.29654	0.530000	0.28619	0.100000	0.15512	GAA	ASMTL	-	pfam_O_MeTrfase_2		0.507	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	C	NM_004192		1540565	-1	no_errors	ENST00000381317	ensembl	human	known	70_37	missense	SNP	0.023	T
ATP10A	57194	genome.wustl.edu	37	15	26108099	26108099	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:26108099G>A	ENST00000356865.6	-	1	256	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	ATP10A_ENST00000553577.1_5'Flank|RP11-2C7.1_ENST00000557558.1_lincRNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	49					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGCCGTCGCCGCTCGCCCTTG	0.726																																																	0													15.0	15.0	15.0					15																	26108099		2177	4253	6430	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.145C>T	15.37:g.26108099G>A	ENSP00000349325:p.Arg49Trp		Q4G0S9|Q969I4	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.R49W	ENST00000356865.6	37	c.145	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133044	0.56828	.	.	ENSG00000206190	ENST00000356865	T	0.48201	0.82	3.42	1.28	0.21552	.	2.444050	0.01718	U	0.028121	T	0.36690	0.0976	L	0.31926	0.97	0.20563	N	0.999881	B	0.13145	0.007	B	0.04013	0.001	T	0.16928	-1.0386	10	0.38643	T	0.18	.	3.7759	0.08660	0.2591:0.0:0.5443:0.1966	.	49	O60312	AT10A_HUMAN	W	49	ENSP00000349325:R49W	ENSP00000349325:R49W	R	-	1	2	ATP10A	23659192	0.988000	0.35896	0.182000	0.23118	0.885000	0.51271	0.449000	0.21744	0.641000	0.30601	0.456000	0.33151	CGG	ATP10A	-	NULL		0.726	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		26108099	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	missense	SNP	0.039	A
BLMH	642	genome.wustl.edu	37	17	28601165	28601165	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:28601165G>A	ENST00000261714.6	-	7	870	c.696C>T	c.(694-696)acC>acT	p.T232T	BLMH_ENST00000394819.3_Silent_p.T145T|BLMH_ENST00000582669.1_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	232					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GATATTCCCAGGTGAATGTCT	0.438																																					Pancreas(127;628 1772 12912 33293 36203)												0													75.0	73.0	74.0					17																	28601165		2203	4300	6503	SO:0001819	synonymous_variant	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.696C>T	17.37:g.28601165G>A			B2R796|Q53F86|Q9UER9	Silent	SNP	pfam_Peptidase_C1B,pirsf_Peptidase_C1B	p.T232	ENST00000261714.6	37	c.696	CCDS32604.1	17																																																																																			BLMH	-	pfam_Peptidase_C1B,pirsf_Peptidase_C1B		0.438	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLMH	HGNC	protein_coding	OTTHUMT00000447940.1	G	NM_000386		28601165	-1	no_errors	ENST00000261714	ensembl	human	known	70_37	silent	SNP	1.000	A
BPTF	2186	genome.wustl.edu	37	17	65822382	65822382	+	Missense_Mutation	SNP	A	A	G	rs554343942	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:65822382A>G	ENST00000321892.4	+	1	603	c.542A>G	c.(541-543)gAc>gGc	p.D181G	BPTF_ENST00000306378.6_Missense_Mutation_p.D181G|BPTF_ENST00000424123.3_Missense_Mutation_p.D42G|BPTF_ENST00000335221.5_Missense_Mutation_p.D181G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	181	Asp-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGATGGAAGACGACGACGAC	0.587																																																	0													100.0	89.0	93.0					17																	65822382		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.542A>G	17.37:g.65822382A>G	ENSP00000315454:p.Asp181Gly		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D181G	ENST00000321892.4	37	c.542		17	.	.	.	.	.	.	.	.	.	.	A	9.151	1.016253	0.19355	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.81330	-1.48;-1.48;-1.48	2.92	1.77	0.24775	.	.	.	.	.	T	0.70962	0.3284	L	0.42245	1.32	0.32245	N	0.572136	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.66324	-0.5952	9	0.38643	T	0.18	-0.7522	8.2157	0.31509	0.8211:0.0:0.0:0.1789	.	181;181;181	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	G	86;181;181;181;42	ENSP00000307208:D181G;ENSP00000334351:D181G;ENSP00000315454:D181G	ENSP00000307208:D181G	D	+	2	0	BPTF	63252844	1.000000	0.71417	0.273000	0.24645	0.847000	0.48162	7.833000	0.86765	0.319000	0.23209	0.254000	0.18369	GAC	BPTF	-	NULL		0.587	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		A	NM_182641, NM_004459		65822382	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	missense	SNP	0.999	G
PAK6	56924	genome.wustl.edu	37	15	40544784	40544784	+	Intron	SNP	C	C	A	rs372019677		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:40544784C>A	ENST00000560346.1	+	3	466				PAK6_ENST00000260404.4_Intron|PAK6_ENST00000441369.1_Intron|C15orf56_ENST00000319503.3_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_Intron|C15orf56_ENST00000559727.1_Silent_p.T102T			Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6						apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GCTGCACCAACGTGTAAGCGC	0.697																																																	0													13.0	16.0	15.0					15																	40544784		2191	4282	6473	SO:0001627	intron_variant	644809			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000560346.1:c.-117-595C>A	15.37:g.40544784C>A			A8K2G2|B3KYB0|G5E9R2	Silent	SNP	NULL	p.T102	ENST00000560346.1	37	c.306	CCDS10054.1	15																																																																																			C15orf56	-	NULL		0.697	PAK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C15orf56	HGNC	protein_coding	OTTHUMT00000418346.1	C			40544784	-1	no_errors	ENST00000559727	ensembl	human	putative	70_37	silent	SNP	0.020	A
CCDC181	57821	genome.wustl.edu	37	1	169391134	169391134	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:169391134C>T	ENST00000367806.3	-	3	687	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E179K|CCDC181_ENST00000545005.1_Missense_Mutation_p.E179K	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	179						nucleus (GO:0005634)											ATATTCCTTTCGTTTTCAAAA	0.343																																																	0													72.0	77.0	75.0					1																	169391134		2203	4298	6501	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.535G>A	1.37:g.169391134C>T	ENSP00000356780:p.Glu179Lys		O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.E179K	ENST00000367806.3	37	c.535		1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991516	0.54041	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.26660	1.79;1.79;1.79;1.72	5.42	5.42	0.78866	.	0.157499	0.56097	D	0.000035	T	0.38161	0.1030	M	0.72118	2.19	0.37344	D	0.910518	D;D;D	0.71674	0.973;0.998;0.998	B;P;P	0.55965	0.406;0.788;0.788	T	0.25502	-1.0130	9	0.59425	D	0.04	-18.534	19.2312	0.93841	0.0:1.0:0.0:0.0	.	179;179;179	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	K	179	ENSP00000356779:E179K;ENSP00000356780:E179K;ENSP00000442297:E179K;ENSP00000411000:E179K	ENSP00000356779:E179K	E	-	1	0	C1orf114	167657758	1.000000	0.71417	0.992000	0.48379	0.133000	0.20885	4.240000	0.58701	2.533000	0.85409	0.557000	0.71058	GAA	C1orf114	-	NULL		0.343	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	C	NM_021179		169391134	-1	no_errors	ENST00000367806	ensembl	human	known	70_37	missense	SNP	0.742	T
CASKIN2	57513	genome.wustl.edu	37	17	73498651	73498651	+	Missense_Mutation	SNP	C	C	T	rs111983739		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:73498651C>T	ENST00000321617.3	-	18	3090	c.2504G>A	c.(2503-2505)cGc>cAc	p.R835H	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R753H	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	835	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGGGCACTGCGTCCTGGCCG	0.701													C|||	1	0.000199681	0.0	0.0014	5008	,	,		3203	0.0		0.0	False		,,,				2504	0.0																0								C	HIS/ARG,HIS/ARG	6,4388		0,6,2191	21.0	23.0	22.0		2258,2504	4.9	1.0	17	dbSNP_132	22	18,8574		0,18,4278	yes	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	29,29	0,24,6469	TT,TC,CC		0.2095,0.1365,0.1848	probably-damaging,probably-damaging	753/1121,835/1203	73498651	24,12962	2197	4296	6493	SO:0001583	missense	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2504G>A	17.37:g.73498651C>T	ENSP00000325355:p.Arg835His		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.R835H	ENST00000321617.3	37	c.2504	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991300	0.54041	0.001365	0.002095	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.60797	0.16;0.16	4.87	4.87	0.63330	.	0.000000	0.46758	D	0.000273	T	0.56702	0.2003	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.46885	0.53	T	0.63233	-0.6683	10	0.87932	D	0	.	14.6664	0.68910	0.0:0.8542:0.1458:0.0	.	835	Q8WXE0	CSKI2_HUMAN	H	835;753	ENSP00000325355:R835H;ENSP00000406963:R753H	ENSP00000325355:R835H	R	-	2	0	CASKIN2	71010246	0.988000	0.35896	1.000000	0.80357	0.407000	0.30961	0.999000	0.29757	2.537000	0.85549	0.491000	0.48974	CGC	CASKIN2	-	NULL		0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	C	NM_020753		73498651	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	missense	SNP	0.997	T
CCDC160	347475	genome.wustl.edu	37	X	133379541	133379541	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:133379541G>A	ENST00000517294.1	+	3	1094	c.711G>A	c.(709-711)gaG>gaA	p.E237E	CCDC160_ENST00000370809.4_Silent_p.E237E			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	237										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						TGAACCTAGAGAACAGAAATC	0.338																																																	0													27.0	23.0	24.0					X																	133379541		1827	4063	5890	SO:0001819	synonymous_variant	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.711G>A	X.37:g.133379541G>A				Silent	SNP	NULL	p.E237	ENST00000517294.1	37	c.711	CCDS48171.1	X																																																																																			CCDC160	-	NULL		0.338	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	G	NM_001101357		133379541	+1	no_errors	ENST00000370809	ensembl	human	known	70_37	silent	SNP	0.873	A
CEP83	51134	genome.wustl.edu	37	12	94729391	94729391	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:94729391T>C	ENST00000397809.5	-	12	1942	c.1393A>G	c.(1393-1395)Aaa>Gaa	p.K465E	CCDC41_ENST00000397807.2_Missense_Mutation_p.K432E|CCDC41_ENST00000339839.5_Missense_Mutation_p.K465E	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		457					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTTCATTTTTTTCCTTCTCT	0.269																																																	0													100.0	90.0	93.0					12																	94729391		1785	4054	5839	SO:0001583	missense	51134																														ENST00000397809.5:c.1393A>G	12.37:g.94729391T>C	ENSP00000380911:p.Lys465Glu		A4FVB1|Q08AP1	Missense_Mutation	SNP	NULL	p.K465E	ENST00000397809.5	37	c.1393	CCDS41820.1	12	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682699	0.88542	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.53857	1.99;1.99;0.6	5.98	5.98	0.97165	.	.	.	.	.	T	0.63260	0.2496	L	0.59436	1.845	0.40539	D	0.981002	D;D	0.55385	0.971;0.971	P;P	0.55749	0.783;0.654	T	0.63274	-0.6674	9	0.38643	T	0.18	-29.733	15.2968	0.73916	0.0:0.0:0.0:1.0	.	432;457	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	E	465;465;432	ENSP00000344655:K465E;ENSP00000380911:K465E;ENSP00000380909:K432E	ENSP00000344655:K465E	K	-	1	0	CCDC41	93253522	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.086000	0.64474	2.296000	0.77279	0.482000	0.46254	AAA	CCDC41	-	NULL		0.269	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC41	HGNC	protein_coding	OTTHUMT00000408147.3	T			94729391	-1	no_errors	ENST00000339839	ensembl	human	known	70_37	missense	SNP	1.000	C
CEP41	95681	genome.wustl.edu	37	7	130056775	130056775	+	Missense_Mutation	SNP	C	C	T	rs138907207		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:130056775C>T	ENST00000223208.5	-	3	400	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Missense_Mutation_p.E44K	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	44					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TTAATCTCTTCGAGCTTCTCA	0.328																																																	0								C	LYS/GLU	0,4404		0,0,2202	117.0	114.0	115.0		130	5.7	1.0	7	dbSNP_134	115	3,8595	3.0+/-9.4	0,3,4296	yes	missense	CEP41	NM_018718.1	56	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	44/374	130056775	3,12999	2202	4299	6501	SO:0001583	missense	95681			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.130G>A	7.37:g.130056775C>T	ENSP00000223208:p.Glu44Lys		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.E44K	ENST00000223208.5	37	c.130	CCDS5821.1	7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433560	0.83776	0.0	3.49E-4	ENSG00000106477	ENST00000223208;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282;ENST00000469826	D;D;D;D;D;D;T	0.89343	-2.5;-2.49;-2.37;-2.37;-2.4;-2.07;-1.37	5.71	5.71	0.89125	.	0.053859	0.64402	D	0.000001	D	0.94291	0.8166	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.975	D	0.94556	0.7758	10	0.72032	D	0.01	-26.7371	15.358	0.74443	0.0:1.0:0.0:0.0	.	44;44	Q9BYV8-2;Q9BYV8	.;CEP41_HUMAN	K	44;44;9;9;41;9;31	ENSP00000223208:E44K;ENSP00000342738:E44K;ENSP00000419192:E9K;ENSP00000417593:E9K;ENSP00000420670:E41K;ENSP00000418363:E9K;ENSP00000418712:E31K	ENSP00000223208:E44K	E	-	1	0	TSGA14	129844011	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.689000	0.61723	2.687000	0.91594	0.655000	0.94253	GAA	CEP41	-	NULL		0.328	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2	C	NM_018718		130056775	-1	no_errors	ENST00000223208	ensembl	human	known	70_37	missense	SNP	1.000	T
CFH	3075	genome.wustl.edu	37	1	196648881	196648881	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:196648881G>A	ENST00000359637.2	+	5	618	c.556G>A	c.(556-558)Gta>Ata	p.V186I	CFH_ENST00000367429.4_Missense_Mutation_p.V250I|CFH_ENST00000439155.2_Missense_Mutation_p.V250I			P08603	CFAH_HUMAN	complement factor H	250	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGGAGATGCTGTATGCACTGA	0.318																																																	0													96.0	89.0	91.0					1																	196648881		2203	4298	6501	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.556G>A	1.37:g.196648881G>A	ENSP00000352658:p.Val186Ile		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V250I	ENST00000359637.2	37	c.748		1	.	.	.	.	.	.	.	.	.	.	G	9.777	1.174182	0.21704	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.66280	-0.2;-0.2;-0.2	5.85	-4.29	0.03721	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.30727	0.0774	N	0.10916	0.065	0.09310	N	1	B;P;P;B	0.37207	0.069;0.499;0.587;0.082	B;B;B;B	0.28232	0.087;0.074;0.087;0.012	T	0.20571	-1.0271	9	0.21014	T	0.42	.	7.5978	0.28058	0.6122:0.1321:0.2557:0.0	.	186;250;250;250	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	I	250;250;250;186	ENSP00000356399:V250I;ENSP00000402656:V250I;ENSP00000352658:V186I	ENSP00000352658:V186I	V	+	1	0	CFH	194915504	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-3.571000	0.00427	-0.624000	0.05611	-0.291000	0.09656	GTA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.318	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	G	NM_000186		196648881	+1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.000	A
CFTR	1080	genome.wustl.edu	37	7	117232394	117232394	+	Missense_Mutation	SNP	G	G	A	rs199791061|rs121908787		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:117232394G>A	ENST00000003084.6	+	14	2305	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	CFTR_ENST00000454343.1_Missense_Mutation_p.E664K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	725					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAATGGCATCGAAGAGGATTC	0.438									Cystic Fibrosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		21368	0.0		0.001	False		,,,				2504	0.0																0			GRCh37	CM983562	CFTR	M							59.0	54.0	56.0					7																	117232394		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2173G>A	7.37:g.117232394G>A	ENSP00000003084:p.Glu725Lys		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.E725K	ENST00000003084.6	37	c.2173	CCDS5773.1	7	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	35	5.540025	0.96474	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.96619	-4.07;-4.07;-4.07	5.52	4.64	0.57946	.	0.139919	0.64402	D	0.000005	D	0.96959	0.9007	M	0.78637	2.42	0.54753	D	0.999987	D	0.53462	0.96	P	0.52646	0.705	D	0.97047	0.9761	10	0.66056	D	0.02	-5.7337	14.6111	0.68517	0.0704:0.0:0.9296:0.0	.	725	P13569	CFTR_HUMAN	K	725;664;695	ENSP00000003084:E725K;ENSP00000403677:E664K;ENSP00000389119:E695K	ENSP00000003084:E725K	E	+	1	0	CFTR	117019630	1.000000	0.71417	0.033000	0.17914	0.688000	0.40055	6.799000	0.75160	1.464000	0.47987	0.563000	0.77884	GAA	CFTR	-	tigrfam_cAMP_cl_channel		0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	G	NM_000492		117232394	+1	no_errors	ENST00000003084	ensembl	human	known	70_37	missense	SNP	0.996	A
CHRNB1	1140	genome.wustl.edu	37	17	7357837	7357837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:7357837C>T	ENST00000306071.2	+	8	1109	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	CHRNB1_ENST00000575379.1_5'Flank|CHRNB1_ENST00000576360.1_Nonsense_Mutation_p.Q227*|CHRNB1_ENST00000536404.2_Nonsense_Mutation_p.Q276*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	348					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TTGGGTCCGTCAGGTAAGAAA	0.507																																																	0													90.0	87.0	88.0					17																	7357837		2203	4300	6503	SO:0001587	stop_gained	1140			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1042C>T	17.37:g.7357837C>T	ENSP00000304290:p.Gln348*		B7Z5H1|Q8IZ46|Q96FB8	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Q348*	ENST00000306071.2	37	c.1042	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892421	0.91889	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	.	.	.	5.2	5.2	0.72013	.	0.188192	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3069	0.66391	0.0:1.0:0.0:0.0	.	.	.	.	X	348;276	.	ENSP00000304290:Q348X	Q	+	1	0	CHRNB1	7298561	0.999000	0.42202	0.999000	0.59377	0.959000	0.62525	4.341000	0.59335	2.441000	0.82636	0.454000	0.30748	CAG	CHRNB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.507	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3	C			7357837	+1	no_errors	ENST00000306071	ensembl	human	known	70_37	nonsense	SNP	1.000	T
COL22A1	169044	genome.wustl.edu	37	8	139606405	139606405	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr8:139606405C>T	ENST00000303045.6	-	63	4916	c.4470G>A	c.(4468-4470)gcG>gcA	p.A1490A	COL22A1_ENST00000435777.1_Silent_p.A1470A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTCATGTACGCCGGGGGCA	0.602										HNSCC(7;0.00092)																																							0													38.0	43.0	41.0					8																	139606405		2203	4300	6503	SO:0001819	synonymous_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4470G>A	8.37:g.139606405C>T			B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A1490	ENST00000303045.6	37	c.4470	CCDS6376.1	8																																																																																			COL22A1	-	NULL		0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	C	XM_291257		139606405	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	silent	SNP	0.350	T
COL6A3	1293	genome.wustl.edu	37	2	238289881	238289881	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:238289881G>A	ENST00000295550.4	-	5	2026	c.1574C>T	c.(1573-1575)aCg>aTg	p.T525M	COL6A3_ENST00000347401.3_Missense_Mutation_p.T324M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T525M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T319M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T319M|COL6A3_ENST00000392004.3_Missense_Mutation_p.T319M|COL6A3_ENST00000472056.1_Missense_Mutation_p.T118M|COL6A3_ENST00000392003.2_Missense_Mutation_p.T118M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	525	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T525M(2)|p.T319M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCAGAGCCCGTGTACAGGGC	0.517																																																	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)											86.0	97.0	93.0					2																	238289881		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1574C>T	2.37:g.238289881G>A	ENSP00000295550:p.Thr525Met		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T525M	ENST00000295550.4	37	c.1574	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837249	0.50951	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.6	4.63	0.57726	von Willebrand factor, type A (3);	0.233058	0.29767	N	0.011244	D	0.94525	0.8237	M	0.90922	3.16	0.49483	D	0.999792	D;D;D;D;D;D	0.89917	0.997;1.0;0.986;0.999;1.0;0.999	D;D;D;D;D;D	0.83275	0.926;0.996;0.964;0.977;0.989;0.926	D	0.95196	0.8312	10	0.72032	D	0.01	.	14.0547	0.64761	0.0777:0.0:0.9223:0.0	.	525;118;118;319;319;525	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	525;324;319;118;319;525;319;118;525	ENSP00000295550:T525M;ENSP00000315609:T324M;ENSP00000315873:T319M;ENSP00000418285:T118M;ENSP00000386844:T319M;ENSP00000295546:T525M;ENSP00000375861:T319M;ENSP00000375860:T118M;ENSP00000389539:T525M	ENSP00000295550:T525M	T	-	2	0	COL6A3	237954620	0.993000	0.37304	0.932000	0.37286	0.140000	0.21249	2.068000	0.41471	1.198000	0.43158	0.655000	0.94253	ACG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	G	NM_004369		238289881	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	A
CROCCP2	84809	genome.wustl.edu	37	1	16946492	16946492	+	lincRNA	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:16946492C>T	ENST00000412962.1	-	0	1027				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGGGCCCGCTCGGCCTCCAGC	0.672																																																	0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946492C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.672	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	C	NR_026752.1		16946492	-1	no_errors	ENST00000412962	ensembl	human	known	70_37	rna	SNP	1.000	T
CXorf67	340602	genome.wustl.edu	37	X	51150397	51150397	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:51150397C>T	ENST00000342995.2	+	1	631	c.529C>T	c.(529-531)Cca>Tca	p.P177S				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	177										breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCCATCTTCTCCAGGGTTCCG	0.647																																																	0													17.0	13.0	14.0					X																	51150397		2198	4295	6493	SO:0001583	missense	340602			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.529C>T	X.37:g.51150397C>T	ENSP00000342680:p.Pro177Ser			Missense_Mutation	SNP	NULL	p.P177S	ENST00000342995.2	37	c.529		X	.	.	.	.	.	.	.	.	.	.	C	7.021	0.558719	0.13436	.	.	ENSG00000187690	ENST00000342995	T	0.42513	0.97	3.16	-2.4	0.06583	.	0.913617	0.09021	N	0.860238	T	0.23965	0.0580	.	.	.	0.09310	N	1	P	0.37101	0.582	B	0.28709	0.093	T	0.10613	-1.0622	9	0.87932	D	0	.	4.5697	0.12203	0.0:0.2499:0.3115:0.4386	.	177	Q86X51	CX067_HUMAN	S	177	ENSP00000342680:P177S	ENSP00000342680:P177S	P	+	1	0	CXorf67	51167137	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.002000	0.12924	-0.794000	0.04468	-0.297000	0.09499	CCA	CXorf67	-	NULL		0.647	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	CXorf67	HGNC	protein_coding		C	NM_203407		51150397	+1	no_errors	ENST00000342995	ensembl	human	known	70_37	missense	SNP	0.000	T
CT45A5	441521	genome.wustl.edu	37	X	134948146	134948146	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:134948146G>T	ENST00000463085.2	-	3	268	c.179C>A	c.(178-180)aCa>aAa	p.T60K	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.T60K|CT45A5_ENST00000370724.3_Missense_Mutation_p.T60K			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	60										endometrium(1)|large_intestine(2)|lung(6)	9						AGCATGTCCTGTCATAAGCTC	0.438																																																	0													99.0	109.0	106.0					X																	134948146		2186	4250	6436	SO:0001583	missense	441521			AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.179C>A	X.37:g.134948146G>T	ENSP00000424778:p.Thr60Lys		A8K842|B7ZMC5	Missense_Mutation	SNP	superfamily_RmlC_Cupin	p.T60K	ENST00000463085.2	37	c.179	CCDS35406.1	X	.	.	.	.	.	.	.	.	.	.	G	3.794	-0.043140	0.07452	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.52754	0.65;0.65	1.84	-0.239	0.13050	.	0.991539	0.08185	U	0.984809	T	0.31734	0.0806	L	0.39898	1.24	0.09310	N	1	B	0.30281	0.275	B	0.21917	0.037	T	0.25187	-1.0139	10	0.52906	T	0.07	.	2.1452	0.03785	0.2078:0.0:0.4888:0.3034	.	60	Q6NSH3	CT455_HUMAN	K	60	ENSP00000359759:T60K;ENSP00000425997:T60K	ENSP00000359759:T60K	T	-	2	0	CT45A5	134775812	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	-0.014000	0.12656	-0.165000	0.10908	-0.566000	0.04163	ACA	CT45A5	-	NULL		0.438	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CT45A5	HGNC	protein_coding	OTTHUMT00000472589.1	G	NM_001007551		134948146	-1	no_errors	ENST00000370724	ensembl	human	known	70_37	missense	SNP	0.001	T
CYLC2	1539	genome.wustl.edu	37	9	105767775	105767775	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr9:105767775G>A	ENST00000374798.3	+	5	932	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	CYLC2_ENST00000487798.1_Missense_Mutation_p.V288I	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	288	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAGGATgatgtcaagaaaga	0.393																																																	0													89.0	85.0	86.0					9																	105767775		2203	4300	6503	SO:0001583	missense	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.862G>A	9.37:g.105767775G>A	ENSP00000420256:p.Val288Ile		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.V288I	ENST00000374798.3	37	c.862	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	G	7.537	0.659846	0.14645	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.14640	2.49;2.49	2.93	-2.12	0.07165	.	2.160320	0.02273	N	0.068649	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.23574	0.047	T	0.28038	-1.0056	10	0.38643	T	0.18	1.2591	2.6142	0.04899	0.4549:0.0:0.3334:0.2117	.	288	Q14093	CYLC2_HUMAN	I	288	ENSP00000420256:V288I;ENSP00000417674:V288I	ENSP00000420256:V288I	V	+	1	0	CYLC2	104807596	0.149000	0.22717	0.000000	0.03702	0.011000	0.07611	1.340000	0.33896	-0.455000	0.07054	0.305000	0.20034	GTC	CYLC2	-	NULL		0.393	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	G	NM_001340		105767775	+1	no_errors	ENST00000374798	ensembl	human	putative	70_37	missense	SNP	0.000	A
DARS2	55157	genome.wustl.edu	37	1	173795921	173795921	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:173795921G>A	ENST00000361951.4	+	2	951	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000345664.6_5'Flank|DARS2_ENST00000239457.5_5'UTR|CENPL_ENST00000495275.1_5'Flank|CENPL_ENST00000356198.2_5'Flank	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	75					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ATTCAGTACCGAAGGTAAATT	0.433																																																	0													123.0	117.0	119.0					1																	173795921		2203	4300	6503	SO:0001583	missense	55157			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.224G>A	1.37:g.173795921G>A	ENSP00000355086:p.Arg75Gln			Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt	p.R75Q	ENST00000361951.4	37	c.224	CCDS1311.1	1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864074	0.32884	.	.	ENSG00000117593	ENST00000361951	T	0.24350	1.86	5.57	5.57	0.84162	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.265612	0.30920	N	0.008615	T	0.12347	0.0300	L	0.46819	1.47	0.80722	D	1	B	0.24882	0.113	B	0.24394	0.053	T	0.05468	-1.0883	10	0.66056	D	0.02	-14.082	8.6371	0.33955	0.1631:0.0:0.8369:0.0	.	75	Q6PI48	SYDM_HUMAN	Q	75	ENSP00000355086:R75Q	ENSP00000355086:R75Q	R	+	2	0	DARS2	172062544	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.733000	0.68571	2.610000	0.88304	0.591000	0.81541	CGA	DARS2	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-ligase_IIb_bac/mt		0.433	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS2	HGNC	protein_coding	OTTHUMT00000084220.1	G	NM_018122		173795921	+1	no_errors	ENST00000361951	ensembl	human	known	70_37	missense	SNP	1.000	A
DHX9	1660	genome.wustl.edu	37	1	182844012	182844012	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:182844012C>G	ENST00000367549.3	+	16	1848	c.1738C>G	c.(1738-1740)Cag>Gag	p.Q580E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	580					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGACTGCATTCAGATGACCCA	0.383																																					Colon(69;210 1162 3697 13559 39565)												0													128.0	132.0	131.0					1																	182844012		1876	4109	5985	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1738C>G	1.37:g.182844012C>G	ENSP00000356520:p.Gln580Glu		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.Q580E	ENST00000367549.3	37	c.1738	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771827	0.49680	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.26660	1.72	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	N	0.02985	-0.445	0.80722	D	1	B	0.23650	0.089	B	0.27887	0.084	T	0.11717	-1.0576	10	0.02654	T	1	.	19.2865	0.94077	0.0:1.0:0.0:0.0	.	580	Q08211	DHX9_HUMAN	E	580	ENSP00000356520:Q580E	ENSP00000356520:Q580E	Q	+	1	0	DHX9	181110635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.048000	0.76606	2.716000	0.92895	0.650000	0.86243	CAG	DHX9	-	NULL		0.383	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	C	NM_030588		182844012	+1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	G
DMD	1756	genome.wustl.edu	37	X	33357379	33357379	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:33357379C>T	ENST00000288447.4	-	1	179	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K				P11532	DMD_HUMAN	dystrophin	0	Actin-binding.				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)				ATCCTACCTTCCATGCCAGCT	0.398																																																	0													222.0	185.0	196.0					X																	33357379		1893	4108	6001	SO:0001583	missense	1756			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	ENST00000288447.4:c.4G>A	X.37:g.33357379C>T	ENSP00000288447:p.Glu2Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain	p.E2K	ENST00000288447.4	37	c.4		X	.	.	.	.	.	.	.	.	.	.	C	2.937	-0.219733	0.06061	.	.	ENSG00000198947	ENST00000288447	D	0.95482	-3.72	5.51	4.64	0.57946	.	.	.	.	.	D	0.89750	0.6805	N	0.17594	0.5	0.80722	D	1	P;P	0.40970	0.734;0.72	B;B	0.37731	0.257;0.201	D	0.88043	0.2782	9	0.37606	T	0.19	.	12.3499	0.55143	0.0:0.9168:0.0:0.0832	.	2;2	Q4G0X0;P11532-4	.;.	K	2	ENSP00000288447:E2K	ENSP00000288447:E2K	E	-	1	0	DMD	33267300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	1.077000	0.40990	0.594000	0.82650	GAA	DMD	-	superfamily_CH-domain		0.398	DMD-002	PUTATIVE	basic	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056183.1	C	NM_004006		33357379	-1	no_errors	ENST00000288447	ensembl	human	putative	70_37	missense	SNP	1.000	T
DNAJC21	134218	genome.wustl.edu	37	5	34950383	34950383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:34950383C>T	ENST00000342382.4	+	10	1521	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	DNAJC21_ENST00000382021.2_Nonsense_Mutation_p.Q477*|DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Nonsense_Mutation_p.Q445*			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	432					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGATAGTCCCCAGGAAAATGT	0.353																																																	0													92.0	88.0	90.0					5																	34950383		2203	4299	6502	SO:0001587	stop_gained	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1294C>T	5.37:g.34950383C>T	ENSP00000343728:p.Gln432*		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Nonsense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.Q477*	ENST00000342382.4	37	c.1429	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.607121	0.98387	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	.	.	.	5.15	5.15	0.70609	.	0.820943	0.10675	N	0.647115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-12.0325	15.6428	0.77020	0.0:1.0:0.0:0.0	.	.	.	.	X	432;477;445	.	ENSP00000306289:Q445X	Q	+	1	0	DNAJC21	34986140	0.928000	0.31464	0.980000	0.43619	0.709000	0.40893	1.762000	0.38451	2.677000	0.91161	0.585000	0.79938	CAG	DNAJC21	-	NULL		0.353	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	C	NM_194283		34950383	+1	no_errors	ENST00000382021	ensembl	human	known	70_37	nonsense	SNP	0.971	T
DPP8	54878	genome.wustl.edu	37	15	65759495	65759495	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:65759495G>A	ENST00000341861.5	-	13	3231	c.1651C>T	c.(1651-1653)Cac>Tac	p.H551Y	DPP8_ENST00000300141.6_Missense_Mutation_p.H535Y|DPP8_ENST00000339244.5_Missense_Mutation_p.H378Y|DPP8_ENST00000358939.4_Missense_Mutation_p.H535Y|DPP8_ENST00000321118.7_Missense_Mutation_p.H551Y|DPP8_ENST00000559233.1_Missense_Mutation_p.H551Y|DPP8_ENST00000321147.6_Missense_Mutation_p.H551Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	551					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACGTACAGGTGATGCTCTAAA	0.433																																																	0													122.0	113.0	116.0					15																	65759495		2201	4299	6500	SO:0001583	missense	54878			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1651C>T	15.37:g.65759495G>A	ENSP00000339208:p.His551Tyr		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.H551Y	ENST00000341861.5	37	c.1651	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744571	0.69418	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.56	5.56	0.83823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.89095	3.005	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.951;0.989;0.982;0.961	D;P;D;P;P	0.87578	0.998;0.712;0.979;0.799;0.81	T	0.71490	-0.4577	10	0.87932	D	0	-6.1168	19.5213	0.95185	0.0:0.0:1.0:0.0	.	378;535;535;551;551	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	Y	551;535;535;551;551;378;551	ENSP00000339208:H551Y;ENSP00000351817:H535Y;ENSP00000300141:H535Y;ENSP00000318111:H551Y;ENSP00000316373:H551Y;ENSP00000341230:H378Y;ENSP00000379013:H551Y	ENSP00000300141:H535Y	H	-	1	0	DPP8	63546548	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.613000	0.98350	2.602000	0.87976	0.467000	0.42956	CAC	DPP8	-	pfam_Peptidase_S9B		0.433	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	G	NM_017743		65759495	-1	no_errors	ENST00000341861	ensembl	human	known	70_37	missense	SNP	1.000	A
DPPA3	359787	genome.wustl.edu	37	12	7868012	7868012	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:7868012G>A	ENST00000345088.2	+	2	433	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	106					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GTTACTCGGCGGAGTTCGTAC	0.468																																																	0													151.0	119.0	129.0					12																	7868012		2203	4300	6503	SO:0001583	missense	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.316G>A	12.37:g.7868012G>A	ENSP00000339250:p.Gly106Arg		Q0P5U3|Q6JZS6	Missense_Mutation	SNP	NULL	p.G106R	ENST00000345088.2	37	c.316	CCDS8582.1	12	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.190438	0.00302	.	.	ENSG00000187569	ENST00000345088	T	0.49139	0.79	1.48	-2.97	0.05530	.	.	.	.	.	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24870	-1.0148	9	0.08599	T	0.76	.	3.3384	0.07110	0.3342:0.2928:0.373:0.0	.	106	Q6W0C5	DPPA3_HUMAN	R	106	ENSP00000339250:G106R	ENSP00000339250:G106R	G	+	1	0	DPPA3	7759279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.176000	0.03099	-1.087000	0.03081	-0.605000	0.04089	GGA	DPPA3	-	NULL		0.468	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA3	HGNC	protein_coding	OTTHUMT00000399718.1	G	NM_199286		7868012	+1	no_errors	ENST00000345088	ensembl	human	known	70_37	missense	SNP	0.000	A
DSCAML1	57453	genome.wustl.edu	37	11	117387317	117387317	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr11:117387317G>A	ENST00000321322.6	-	8	1829	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R340C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	550	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACCACCTGGCGGTGGTTGTCT	0.587																																																	0													95.0	76.0	82.0					11																	117387317		2201	4296	6497	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1828C>T	11.37:g.117387317G>A	ENSP00000315465:p.Arg610Cys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R610C	ENST00000321322.6	37	c.1828	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489437	0.64074	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66638	-0.22;-0.22	4.1	3.15	0.36227	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84906	0.5576	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87483	0.2422	9	0.87932	D	0	.	11.2752	0.49163	0.0:0.0:0.6685:0.3315	.	550	Q8TD84	DSCL1_HUMAN	C	340;610;317	ENSP00000434335:R340C;ENSP00000315465:R610C	ENSP00000315465:R610C	R	-	1	0	DSCAML1	116892527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.415000	0.59809	1.017000	0.39495	0.462000	0.41574	CGC	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	G	NM_020693		117387317	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	missense	SNP	1.000	A
EFCAB6	64800	genome.wustl.edu	37	22	44193200	44193200	+	Intron	SNP	T	T	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr22:44193200T>C	ENST00000262726.7	-	2	247				EFCAB6_ENST00000356087.4_Intron|EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTCATGCCCTTCAAGATAAA	0.463											OREG0026618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.6+11674A>G	22.37:g.44193200T>C		922	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	RNA	SNP	-	NULL	ENST00000262726.7	37	NULL	CCDS14049.1	22																																																																																			EFCAB6	-	-		0.463	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	T	NM_022785		44193200	-1	no_errors	ENST00000476600	ensembl	human	known	70_37	rna	SNP	0.104	C
ENPP7	339221	genome.wustl.edu	37	17	77709214	77709214	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:77709214G>A	ENST00000328313.5	+	3	993	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGGGCTGGCGACCTGGTTGA	0.582																																																	0													131.0	100.0	111.0					17																	77709214		2203	4300	6503	SO:0001583	missense	339221			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.772G>A	17.37:g.77709214G>A	ENSP00000332656:p.Asp258Asn			Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	p.D258N	ENST00000328313.5	37	c.772	CCDS11763.1	17	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411851	0.25465	.	.	ENSG00000182156	ENST00000328313	T	0.75367	-0.93	5.39	4.42	0.53409	Alkaline-phosphatase-like, core domain (1);	0.467813	0.21808	N	0.068808	T	0.51584	0.1683	N	0.10685	0.025	0.38099	D	0.937198	B	0.29552	0.248	B	0.28465	0.09	T	0.50684	-0.8799	10	0.17369	T	0.5	-64.9062	10.5227	0.44929	0.2043:0.0:0.7957:0.0	.	258	Q6UWV6	ENPP7_HUMAN	N	258	ENSP00000332656:D258N	ENSP00000332656:D258N	D	+	1	0	ENPP7	75323809	0.325000	0.24660	0.845000	0.33349	0.257000	0.26127	1.150000	0.31639	1.267000	0.44247	0.655000	0.94253	GAC	ENPP7	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.582	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENPP7	HGNC	protein_coding	OTTHUMT00000437038.1	G	NM_178543		77709214	+1	no_errors	ENST00000328313	ensembl	human	known	70_37	missense	SNP	0.972	A
LOC728660	728660	genome.wustl.edu	37	X	139099890	139099890	+	lincRNA	SNP	A	A	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:139099890A>T	ENST00000417426.1	+	0	276																											TGCTCCAAAAAGCCTAGGATA	0.378																																																	0																																												0																															X.37:g.139099890A>T				RNA	SNP	-	NULL	ENST00000417426.1	37	NULL		X																																																																																			RP11-364B14.1	-	-		0.378	RP11-364B14.1-001	KNOWN	basic	lincRNA	ENSG00000233145	Clone_based_vega_gene	lincRNA	OTTHUMT00000058573.1	A			139099890	+1	no_errors	ENST00000417426	ensembl	human	known	70_37	rna	SNP	0.000	T
STXBP1	6812	genome.wustl.edu	37	9	130457332	130457333	+	IGR	INS	-	-	TGA	rs55657635|rs569572633|rs138071672|rs67150798|rs57076743|rs58200979	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr9:130457332_130457333insTGA	ENST00000373299.1	+	0	3759				STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1						axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGCTCAGCCATtgatgatgatg	0.525														1540	0.307508	0.3608	0.3199	5008	,	,		19290	0.1825		0.336	False		,,,				2504	0.3262																0																																										SO:0001628	intergenic_variant	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713		9.37:g.130457339_130457341dupTGA			B1AM97|Q28208|Q62759|Q64320|Q96TG8	RNA	INS	-	NULL	ENST00000373299.1	37	NULL	CCDS35146.1	9																																																																																			RP11-56D16.2	-	-		0.525	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248666	Clone_based_vega_gene	protein_coding	OTTHUMT00000054229.1	-	NM_003165		130457333	-1	no_errors	ENST00000335223	ensembl	human	known	70_37	rna	INS	0.000:0.000	TGA
EP300	2033	genome.wustl.edu	37	22	41572870	41572870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr22:41572870C>T	ENST00000263253.7	+	31	6374	c.5155C>T	c.(5155-5157)Cag>Tag	p.Q1719*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1719	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGCAACAACCAGCAGGCTGC	0.517			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													100.0	93.0	95.0					22																	41572870		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5155C>T	22.37:g.41572870C>T	ENSP00000263253:p.Gln1719*		B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q1719*	ENST00000263253.7	37	c.5155	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	52	19.422972	0.99919	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.45	5.45	0.79879	.	0.000000	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.8002	19.6502	0.95798	0.0:1.0:0.0:0.0	.	.	.	.	X	1719	.	ENSP00000263253:Q1719X	Q	+	1	0	EP300	39902816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.714000	0.92807	0.650000	0.86243	CAG	EP300	-	NULL		0.517	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41572870	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EP400NL	347918	genome.wustl.edu	37	12	132610547	132610547	+	IGR	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:132610547C>T	ENST00000376625.4	+	0	3487				EP400NL_ENST00000475841.1_3'UTR|EP400NL_ENST00000361109.5_3'UTR			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CTTCCATCAACGCAACGGGAT	0.572																																																	0																																										SO:0001628	intergenic_variant	347918			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251		12.37:g.132610547C>T			A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	RNA	SNP	-	NULL	ENST00000376625.4	37	NULL		12																																																																																			EP400NL	-	-		0.572	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		C	NM_182613		132610547	+1	no_errors	ENST00000475841	ensembl	human	known	70_37	rna	SNP	0.176	T
ERBB2	2064	genome.wustl.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	C			37868208	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO11	80204	genome.wustl.edu	37	2	48059543	48059543	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:48059543C>T	ENST00000403359.3	-	11	1415	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000316377.4_Missense_Mutation_p.R364Q|FBXO11_ENST00000402508.1_Missense_Mutation_p.R364Q	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	448					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATGATTCCGTCTAATAAT	0.343			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											87.0	89.0	88.0					2																	48059543		2202	4299	6501	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1343G>A	2.37:g.48059543C>T	ENSP00000384823:p.Arg448Gln		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.R448Q	ENST00000403359.3	37	c.1343	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586627	0.86851	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	T;T;T	0.80480	-1.38;0.93;-1.38	5.95	5.95	0.96441	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.88858	0.6551	M	0.75777	2.31	0.80722	D	1	D	0.54964	0.969	P	0.59761	0.863	D	0.88197	0.2881	10	0.54805	T	0.06	-5.3292	20.3748	0.98911	0.0:1.0:0.0:0.0	.	448	Q86XK2	FBX11_HUMAN	Q	364;448;364	ENSP00000385398:R364Q;ENSP00000384823:R448Q;ENSP00000323822:R364Q	ENSP00000323822:R364Q	R	-	2	0	FBXO11	47913047	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.817000	0.96982	0.563000	0.77884	CGG	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2		0.343	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	C	NM_012167, NM_018693, NM_025133		48059543	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	missense	SNP	1.000	T
FLG	2312	genome.wustl.edu	37	1	152285314	152285314	+	Missense_Mutation	SNP	C	C	T	rs111657882		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:152285314C>T	ENST00000368799.1	-	3	2083	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	683	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTGTGACGAGTGCCTGA	0.552									Ichthyosis																																								0								C	HIS/ARG	1,4405	826.1+/-416.6	0,1,2202	348.0	351.0	349.0		2048	-5.3	0.0	1	dbSNP_132	349	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	683/4062	152285314	1,13005	2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2048G>A	1.37:g.152285314C>T	ENSP00000357789:p.Arg683His		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R683H	ENST00000368799.1	37	c.2048	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	t	4.483	0.089602	0.08632	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.01113	5.32	2.67	-5.33	0.02713	.	.	.	.	.	T	0.00210	0.0006	N	0.11724	0.165	0.09310	N	1	P	0.35011	0.48	B	0.28709	0.093	T	0.44298	-0.9337	9	0.33940	T	0.23	.	2.9283	0.05792	0.3564:0.2684:0.0:0.3753	.	683	P20930	FILA_HUMAN	H	683	ENSP00000357789:R683H	ENSP00000357789:R683H	R	-	2	0	FLG	150551938	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.460000	0.00999	-1.815000	0.01222	-0.374000	0.07098	CGT	FLG	-	NULL		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152285314	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T
FOXN4	121643	genome.wustl.edu	37	12	109728038	109728038	+	Missense_Mutation	SNP	G	G	A	rs376144049		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:109728038G>A	ENST00000299162.5	-	3	244	c.140C>T	c.(139-141)tCg>tTg	p.S47L	FOXN4_ENST00000355216.1_Intron	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	47					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						CGTGAGCCACGACAGCGACTG	0.657																																																	0								G	LEU/SER	0,1384		0,0,692	19.0	29.0	26.0		140	2.1	0.8	12		26	1,3181		0,1,1590	no	missense	FOXN4	NM_213596.2	145	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	probably-damaging	47/518	109728038	1,4565	692	1591	2283	SO:0001583	missense	121643			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.140C>T	12.37:g.109728038G>A	ENSP00000299162:p.Ser47Leu		Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S47L	ENST00000299162.5	37	c.140	CCDS9126.2	12	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087657	0.55968	0.0	3.14E-4	ENSG00000139445	ENST00000266856;ENST00000299162	D	0.95342	-3.68	3.93	2.07	0.26955	.	.	.	.	.	D	0.95522	0.8545	L	0.59436	1.845	0.54753	D	0.999981	D	0.89917	1.0	D	0.80764	0.994	D	0.93878	0.7168	9	0.87932	D	0	.	8.9384	0.35713	0.186:0.0:0.814:0.0	.	47	Q96NZ1	FOXN4_HUMAN	L	47	ENSP00000299162:S47L	ENSP00000266856:S47L	S	-	2	0	FOXN4	108212421	1.000000	0.71417	0.771000	0.31576	0.979000	0.70002	7.321000	0.79088	0.277000	0.22141	0.561000	0.74099	TCG	FOXN4	-	NULL		0.657	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN4	HGNC	protein_coding	OTTHUMT00000328306.1	G	XM_062735		109728038	-1	no_errors	ENST00000299162	ensembl	human	known	70_37	missense	SNP	0.982	A
GIP	2695	genome.wustl.edu	37	17	47044537	47044537	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:47044537G>T	ENST00000357424.2	-	2	158	c.58C>A	c.(58-60)Cta>Ata	p.L20I		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	20					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						TTCTCTCCTAGTCCCACTGCC	0.517																																																	0													110.0	101.0	104.0					17																	47044537		2203	4300	6503	SO:0001583	missense	2695				CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"""Endogenous ligands"""	4270	protein-coding gene	gene with protein product	"""glucose-dependent insulinotropic polypeptide"""	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.58C>A	17.37:g.47044537G>T	ENSP00000350005:p.Leu20Ile		Q4VB42|Q6NTD3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.L20I	ENST00000357424.2	37	c.58	CCDS11542.1	17	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385784	0.25031	.	.	ENSG00000159224	ENST00000357424	T	0.25749	1.78	5.15	0.581	0.17407	.	1.063310	0.07374	N	0.886211	T	0.13329	0.0323	N	0.24115	0.695	0.09310	N	1	B	0.30068	0.267	B	0.25140	0.058	T	0.29731	-1.0002	10	0.29301	T	0.29	-0.3682	1.5342	0.02542	0.1859:0.1561:0.4769:0.1811	.	20	P09681	GIP_HUMAN	I	20	ENSP00000350005:L20I	ENSP00000350005:L20I	L	-	1	2	GIP	44399536	0.322000	0.24634	0.179000	0.23059	0.766000	0.43426	1.157000	0.31724	0.341000	0.23771	-0.163000	0.13421	CTA	GIP	-	NULL		0.517	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIP	HGNC	protein_coding	OTTHUMT00000364044.1	G	NM_004123		47044537	-1	no_errors	ENST00000357424	ensembl	human	known	70_37	missense	SNP	0.059	T
CPTP	80772	genome.wustl.edu	37	1	1263337	1263337	+	3'UTR	SNP	C	C	T	rs369600968	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:1263337C>T	ENST00000343938.4	+	0	1250				GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	CPTP_HUMAN							ceramide 1-phosphate transport (GO:1902389)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide 1-phosphate binding (GO:1902387)|ceramide 1-phosphate transporter activity (GO:1902388)|glycolipid binding (GO:0051861)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGGCCCACCCTCTCGGTCCG	0.657																																																	0													63.0	70.0	68.0					1																	1263337		692	1591	2283	SO:0001624	3_prime_UTR_variant	80772																														ENST00000343938.4:c.*194C>T	1.37:g.1263337C>T			Q4G0E6|Q7L5A4	RNA	SNP	-	NULL	ENST00000343938.4	37	NULL	CCDS30555.1	1																																																																																			GLTPD1	-	-		0.657	GLTPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTPD1	HGNC	protein_coding	OTTHUMT00000008742.1	C			1263337	+1	no_errors	ENST00000464957	ensembl	human	known	70_37	rna	SNP	0.000	T
GNPTAB	79158	genome.wustl.edu	37	12	102159990	102159991	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:102159990_102159991TC>AA	ENST00000299314.7	-	12	1752_1753	c.1490_1491GA>TT	c.(1489-1491)gGA>gTT	p.G497V	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	497	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TGTTTATTCCTCCACCAAACTG	0.495																																																	0																																										SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1490_1491delinsAA	12.37:g.102159990_102159991delinsAA	ENSP00000299314:p.Gly497Val		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent|Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.G497|p.G497V	ENST00000299314.7	37	c.1491|c.1490	CCDS9088.1	12																																																																																			GNPTAB	-	NULL		0.495	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	T|C			102159990|102159991	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	silent|missense	SNP	0.992	A
GRIA3	2892	genome.wustl.edu	37	X	122538637	122538637	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:122538637C>A	ENST00000371251.1	+	10	1424	c.1372C>A	c.(1372-1374)Cta>Ata	p.L458I	GRIA3_ENST00000264357.5_Missense_Mutation_p.L458I|GRIA3_ENST00000371256.5_Missense_Mutation_p.L458I|GRIA3_ENST00000541091.1_Missense_Mutation_p.L442I|GRIA3_ENST00000542149.1_Missense_Mutation_p.L458I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	458					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TTGTGTAGACCTAGCCTATGA	0.398																																																	0													175.0	138.0	150.0					X																	122538637		2203	4300	6503	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1372C>A	X.37:g.122538637C>A	ENSP00000360297:p.Leu458Ile		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L458I	ENST00000371251.1	37	c.1372	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851846	0.71719	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	5.7	4.54	0.55810	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.99	D;D;D	0.80764	0.994;0.987;0.979	D	0.90744	0.4652	10	0.87932	D	0	.	9.4851	0.38924	0.0:0.0848:0.0:0.9152	.	442;458;458	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	I	458;458;458;458;442	ENSP00000264357:L458I;ENSP00000446146:L458I;ENSP00000360302:L458I;ENSP00000360297:L458I;ENSP00000446440:L442I	ENSP00000264357:L458I	L	+	1	2	GRIA3	122366318	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.265000	0.58865	0.784000	0.33661	-0.518000	0.04402	CTA	GRIA3	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.398	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122538637	+1	no_errors	ENST00000264357	ensembl	human	known	70_37	missense	SNP	1.000	A
GULP1	51454	genome.wustl.edu	37	2	189387534	189387534	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:189387534G>A	ENST00000409580.1	+	6	856	c.142G>A	c.(142-144)Gat>Aat	p.D48N	GULP1_ENST00000410051.1_Missense_Mutation_p.D48N|GULP1_ENST00000409609.1_Missense_Mutation_p.D48N|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000359135.3_Missense_Mutation_p.D48N|GULP1_ENST00000409843.1_Missense_Mutation_p.D48N|GULP1_ENST00000409637.3_Missense_Mutation_p.D48N|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409830.1_Missense_Mutation_p.D48N			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	48	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)	p.D48Y(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			AGTTGTGAGAGATGCTGTAAG	0.383																																					Pancreas(178;563 2065 20199 42378 52815)												1	Substitution - Missense(1)	lung(1)											139.0	135.0	137.0					2																	189387534		2203	4300	6503	SO:0001583	missense	51454			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.142G>A	2.37:g.189387534G>A	ENSP00000386289:p.Asp48Asn		B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.D48N	ENST00000409580.1	37	c.142	CCDS2295.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302097	0.81136	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000409927;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.58	5.58	0.84498	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.049028	0.85682	N	0.000000	T	0.42268	0.1195	L	0.52011	1.625	0.80722	D	1	P;B;D	0.71674	0.906;0.237;0.998	P;B;D	0.81914	0.673;0.292;0.995	T	0.12167	-1.0558	10	0.59425	D	0.04	-8.6868	17.0634	0.86553	0.0:0.0:1.0:0.0	.	48;48;48	Q9UBP9;B8ZZ72;Q9UBP9-2	GULP1_HUMAN;.;.	N	48	ENSP00000387144:D48N;ENSP00000386732:D48N;ENSP00000387013:D48N;ENSP00000386809:D48N;ENSP00000352047:D48N;ENSP00000386289:D48N;ENSP00000386402:D48N;ENSP00000386867:D48N	ENSP00000352047:D48N	D	+	1	0	GULP1	189095779	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	8.228000	0.89789	2.638000	0.89438	0.467000	0.42956	GAT	GULP1	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.383	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GULP1	HGNC	protein_coding	OTTHUMT00000335722.1	G	NM_016315		189387534	+1	no_errors	ENST00000359135	ensembl	human	known	70_37	missense	SNP	1.000	A
HCN1	348980	genome.wustl.edu	37	5	45695897	45695897	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:45695897G>A	ENST00000303230.4	-	1	356	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	100	Involved in subunit assembly. {ECO:0000250}.		S -> F (in EIEE24; dominant-negative mutation resulting in gain of channel function). {ECO:0000269|PubMed:24747641}.		apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCAGCATGGAGGTGAACTG	0.667																																																	0													28.0	30.0	29.0					5																	45695897		2198	4284	6482	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.299C>T	5.37:g.45695897G>A	ENSP00000307342:p.Ser100Phe			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.S100F	ENST00000303230.4	37	c.299	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854557	0.71719	.	.	ENSG00000164588	ENST00000303230	T	0.80304	-1.36	4.18	3.29	0.37713	Ion transport N-terminal (1);	0.000000	0.45867	D	0.000331	D	0.84051	0.5387	L	0.48642	1.525	0.45272	D	0.998271	P	0.48230	0.907	P	0.59825	0.864	D	0.85199	0.1014	10	0.87932	D	0	.	13.5105	0.61508	0.0:0.1583:0.8417:0.0	.	100	O60741	HCN1_HUMAN	F	100	ENSP00000307342:S100F	ENSP00000307342:S100F	S	-	2	0	HCN1	45731654	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.900000	0.56295	0.919000	0.36945	0.462000	0.41574	TCC	HCN1	-	pfam_Ion_trans_N		0.667	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	G	NM_021072		45695897	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H1B	3009	genome.wustl.edu	37	6	27834744	27834744	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr6:27834744C>G	ENST00000331442.3	-	1	615	c.564G>C	c.(562-564)aaG>aaC	p.K188N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	188					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TGGCAGGACTCTTGGTTGCCT	0.587																																																	0													76.0	75.0	75.0					6																	27834744		2203	4300	6503	SO:0001583	missense	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.564G>C	6.37:g.27834744C>G	ENSP00000330074:p.Lys188Asn		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.K188N	ENST00000331442.3	37	c.564	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537741	0.27475	.	.	ENSG00000184357	ENST00000331442	T	0.20463	2.07	5.19	2.47	0.30058	.	0.053885	0.64402	D	0.000001	T	0.11024	0.0269	N	0.08118	0	0.58432	D	0.999992	D	0.69078	0.997	P	0.61397	0.888	T	0.11941	-1.0567	10	0.72032	D	0.01	-5.6055	9.7808	0.40647	0.0:0.709:0.0:0.291	.	188	P16401	H15_HUMAN	N	188	ENSP00000330074:K188N	ENSP00000330074:K188N	K	-	3	2	HIST1H1B	27942723	1.000000	0.71417	0.937000	0.37676	0.051000	0.14879	2.393000	0.44442	0.316000	0.23135	-0.136000	0.14681	AAG	HIST1H1B	-	NULL		0.587	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834744	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	missense	SNP	1.000	G
HOXC4	3221	genome.wustl.edu	37	12	54447821	54447821	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:54447821C>T	ENST00000430889.2	+	1	161	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	HOXC4_ENST00000609810.1_Missense_Mutation_p.R39W|HOXC4_ENST00000303406.4_Missense_Mutation_p.R39W	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	39					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						ATATTACGGCCGGACCAGGGA	0.527																																																	0													128.0	135.0	133.0					12																	54447821		2203	4300	6503	SO:0001583	missense	3221				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.115C>T	12.37:g.54447821C>T	ENSP00000399808:p.Arg39Trp			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R39W	ENST00000430889.2	37	c.115	CCDS8873.1	12	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893754	0.72639	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.83837	-1.77;-1.77	3.41	3.41	0.39046	.	0.229541	0.35615	N	0.003096	D	0.84428	0.5470	M	0.87381	2.88	0.58432	D	0.999999	B	0.18741	0.03	B	0.09377	0.004	D	0.85659	0.1287	10	0.66056	D	0.02	.	14.7795	0.69754	0.0:1.0:0.0:0.0	.	39	P09017	HXC4_HUMAN	W	39	ENSP00000305973:R39W;ENSP00000399808:R39W	ENSP00000305973:R39W	R	+	1	2	HOXC4	52734088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.329000	0.43876	2.187000	0.69744	0.462000	0.41574	CGG	HOXC4	-	NULL		0.527	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC4	HGNC	protein_coding	OTTHUMT00000358963.1	C			54447821	+1	no_errors	ENST00000303406	ensembl	human	known	70_37	missense	SNP	1.000	T
HTR4	3360	genome.wustl.edu	37	5	147929786	147929786	+	Silent	SNP	C	C	T	rs201439456		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:147929786C>T	ENST00000377888.3	-	3	204	c.66G>A	c.(64-66)ctG>ctA	p.L22L	HTR4_ENST00000521735.1_Silent_p.L22L|HTR4_ENST00000314512.6_Silent_p.L22L|HTR4_ENST00000517929.1_Silent_p.L22L|HTR4_ENST00000354217.2_Silent_p.L22L|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521530.1_Silent_p.L22L|HTR4_ENST00000360693.3_Silent_p.L22L|HTR4_ENST00000520514.1_Silent_p.L22L|HTR4_ENST00000362016.2_Silent_p.L22L	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	22					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GAAACGTGAGCAGCACCACCT	0.522																																					GBM(120;370 1604 14007 17804 41573)												0													156.0	113.0	127.0					5																	147929786		2203	4300	6503	SO:0001819	synonymous_variant	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.66G>A	5.37:g.147929786C>T			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.L22	ENST00000377888.3	37	c.66	CCDS4291.1	5																																																																																			HTR4	-	prints_GPCR_Rhodpsn		0.522	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000252187.2	C	NM_000870		147929786	-1	no_errors	ENST00000360693	ensembl	human	known	70_37	silent	SNP	1.000	T
IL1RAP	3556	genome.wustl.edu	37	3	190374255	190374255	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr3:190374255C>T	ENST00000317757.3	+	12	2129	c.1923C>T	c.(1921-1923)ctC>ctT	p.L641L	RP11-268E23.2_ENST00000609508.1_lincRNA|IL1RAP_ENST00000443369.2_Silent_p.L641L	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	0					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AGACACACCTCTGTAAGCCTG	0.522																																																	0													46.0	51.0	49.0					3																	190374255		692	1591	2283	SO:0001819	synonymous_variant	3556			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1923C>T	3.37:g.190374255C>T			B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.L641	ENST00000317757.3	37	c.1923	CCDS54696.1	3																																																																																			IL1RAP	-	NULL		0.522	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	C			190374255	+1	no_errors	ENST00000443369	ensembl	human	known	70_37	silent	SNP	0.980	T
JAG2	3714	genome.wustl.edu	37	14	105618303	105618303	+	Silent	SNP	G	G	A	rs369610323		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:105618303G>A	ENST00000331782.3	-	7	1414	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.D337D	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	337	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCGAGTAGCCGTCAGGGCAGG	0.662																																																	0									,	1,4405	2.1+/-5.4	0,1,2202	49.0	51.0	51.0		1011,1011	-2.6	0.4	14		51	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	337/1239,337/1201	105618303	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	3714			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1011C>T	14.37:g.105618303G>A			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.D337	ENST00000331782.3	37	c.1011	CCDS9998.1	14																																																																																			JAG2	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.662	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	G			105618303	-1	no_errors	ENST00000331782	ensembl	human	known	70_37	silent	SNP	0.725	A
KCNH3	23416	genome.wustl.edu	37	12	49951381	49951381	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:49951381C>T	ENST00000257981.6	+	15	3157	c.2897C>T	c.(2896-2898)cCg>cTg	p.P966L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	966	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CACCCTCGTCCGGGGCCTCCT	0.677																																																	0													48.0	48.0	48.0					12																	49951381		2203	4300	6503	SO:0001583	missense	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2897C>T	12.37:g.49951381C>T	ENSP00000257981:p.Pro966Leu		Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.P966L	ENST00000257981.6	37	c.2897	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495942	0.64186	.	.	ENSG00000135519	ENST00000257981	D	0.99376	-5.79	4.88	4.88	0.63580	.	0.000000	0.41294	D	0.000904	D	0.95066	0.8402	N	0.08118	0	0.80722	D	1	P	0.40638	0.725	B	0.28139	0.086	D	0.95503	0.8579	10	0.25106	T	0.35	.	13.3951	0.60846	0.0:1.0:0.0:0.0	.	966	Q9ULD8	KCNH3_HUMAN	L	966	ENSP00000257981:P966L	ENSP00000257981:P966L	P	+	2	0	KCNH3	48237648	0.799000	0.28903	0.902000	0.35471	0.935000	0.57460	0.913000	0.28611	2.541000	0.85698	0.561000	0.74099	CCG	KCNH3	-	NULL		0.677	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	C	NM_012284		49951381	+1	no_errors	ENST00000257981	ensembl	human	known	70_37	missense	SNP	0.948	T
KCNRG	283518	genome.wustl.edu	37	13	50594391	50594391	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr13:50594391G>A	ENST00000312942.1	+	2	860	c.620G>A	c.(619-621)gGa>gAa	p.G207E	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	207					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TTGGCCAACGGAACAAATGTC	0.353																																																	0													77.0	74.0	75.0					13																	50594391		2203	4300	6503	SO:0001583	missense	283518				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.620G>A	13.37:g.50594391G>A	ENSP00000324191:p.Gly207Glu		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.G207E	ENST00000312942.1	37	c.620	CCDS9424.1	13	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485651	0.84854	.	.	ENSG00000198553	ENST00000312942	T	0.68903	-0.36	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.74688	0.3749	L	0.34521	1.04	0.49213	D	0.999764	D	0.89917	1.0	D	0.91635	0.999	T	0.70669	-0.4808	10	0.27785	T	0.31	.	19.3764	0.94512	0.0:0.0:1.0:0.0	.	207	Q8N5I3	KCNRG_HUMAN	E	207	ENSP00000324191:G207E	ENSP00000324191:G207E	G	+	2	0	KCNRG	49492392	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.412000	0.80091	2.596000	0.87737	0.557000	0.71058	GGA	KCNRG	-	NULL		0.353	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNRG	HGNC	protein_coding	OTTHUMT00000276308.1	G			50594391	+1	no_errors	ENST00000312942	ensembl	human	known	70_37	missense	SNP	1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44911048	44911048	+	Splice_Site	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:44911048G>A	ENST00000377967.4	+	9	789		c.e9+1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAACAGTTAGGTATGTAATAG	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	10	Whole gene deletion(6)|No detectable mRNA/protein(4)	haematopoietic_and_lymphoid_tissue(4)|oesophagus(2)|breast(2)|pancreas(2)											40.0	34.0	36.0					X																	44911048		2199	4294	6493	SO:0001630	splice_region_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.748+1G>A	X.37:g.44911048G>A			Q52LL9|Q5JVQ7	Splice_Site	SNP	-	e9+1	ENST00000377967.4	37	c.748+1	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493048	0.84962	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5843	0.87977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44795992	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.388000	0.97237	2.169000	0.68431	0.538000	0.68166	.	KDM6A	-	-		0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	G	NM_021140	Intron	44911048	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	splice_site	SNP	1.000	A
KIAA1755	85449	genome.wustl.edu	37	20	36869138	36869138	+	Silent	SNP	C	C	T	rs554195759	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr20:36869138C>T	ENST00000279024.4	-	3	1666	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	465										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGTGGGGGGCTCAGGGGAGG	0.562																																																	0													57.0	60.0	59.0					20																	36869138		2203	4300	6503	SO:0001819	synonymous_variant	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1395G>A	20.37:g.36869138C>T			Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.E465	ENST00000279024.4	37	c.1395	CCDS33467.1	20																																																																																			KIAA1755	-	NULL		0.562	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	C	NM_001029864		36869138	-1	no_errors	ENST00000279024	ensembl	human	known	70_37	silent	SNP	0.000	T
KIRREL2	84063	genome.wustl.edu	37	19	36348063	36348063	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:36348063C>T	ENST00000360202.5	+	1	240	c.42C>T	c.(40-42)ttC>ttT	p.F14F	KIRREL2_ENST00000592409.1_Silent_p.F14F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Silent_p.F14F|KIRREL2_ENST00000347900.6_Silent_p.F14F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	14					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCCTCTTCTGCTTCAGAG	0.622																																																	0													53.0	43.0	46.0					19																	36348063		2203	4300	6503	SO:0001819	synonymous_variant	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.42C>T	19.37:g.36348063C>T			C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F14	ENST00000360202.5	37	c.42	CCDS12481.1	19																																																																																			KIRREL2	-	NULL		0.622	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL2	HGNC	protein_coding	OTTHUMT00000452561.1	C	NM_032123		36348063	+1	no_errors	ENST00000360202	ensembl	human	known	70_37	silent	SNP	0.998	T
KRT38	8687	genome.wustl.edu	37	17	39594972	39594972	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:39594972C>A	ENST00000246646.3	-	4	870	c.871G>T	c.(871-873)Gtg>Ttg	p.V291L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	291	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CACTGTTCCACATCCTGGCGG	0.607																																																	0													140.0	128.0	132.0					17																	39594972		2203	4300	6503	SO:0001583	missense	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.871G>T	17.37:g.39594972C>A	ENSP00000246646:p.Val291Leu		A2RRM5|Q6A164	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.V291L	ENST00000246646.3	37	c.871	CCDS11392.1	17	.	.	.	.	.	.	.	.	.	.	.	12.88	2.070861	0.36566	.	.	ENSG00000171360	ENST00000246646	D	0.87729	-2.29	4.23	4.23	0.50019	Filament (1);	0.000000	0.44285	D	0.000479	T	0.80571	0.4648	N	0.21240	0.645	0.20764	N	0.999859	B	0.11235	0.004	B	0.19666	0.026	T	0.72994	-0.4122	10	0.56958	D	0.05	.	15.8176	0.78615	0.0:1.0:0.0:0.0	.	291	O76015	KRT38_HUMAN	L	291	ENSP00000246646:V291L	ENSP00000246646:V291L	V	-	1	0	KRT38	36848498	0.000000	0.05858	0.894000	0.35097	0.761000	0.43186	-0.115000	0.10741	2.220000	0.72140	0.549000	0.68633	GTG	KRT38	-	pfam_F		0.607	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT38	HGNC	protein_coding	OTTHUMT00000257307.2	C	NM_006771		39594972	-1	no_errors	ENST00000246646	ensembl	human	known	70_37	missense	SNP	0.544	A
LACTBL1	646262	genome.wustl.edu	37	1	23279692	23279692	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:23279692G>A	ENST00000426928.2	-	6	1484	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L				A8MY62	BLML_HUMAN	lactamase, beta-like 1	450																	ACGCGTCGCCGAGTGGCAGTG	0.711																																																	0																																										SO:0001819	synonymous_variant	646262					1p36.12	2010-07-20			ENSG00000215906	ENSG00000215906			35445	protein-coding gene	gene with protein product							Standard	XM_003846622		Approved			A8MY62	OTTHUMG00000003228	ENST00000426928.2:c.1485C>T	1.37:g.23279692G>A				Silent	SNP	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.L495	ENST00000426928.2	37	c.1485		1																																																																																			LACTBL1	-	NULL		0.711	LACTBL1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LACTBL1	HGNC	protein_coding	OTTHUMT00000008903.4	G	XM_002342035.1		23279692	-1	no_errors	ENST00000426928	ensembl	human	putative	70_37	silent	SNP	0.000	A
LIG4	3981	genome.wustl.edu	37	13	108861664	108861664	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr13:108861664G>A	ENST00000356922.4	-	2	2225	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	LIG4_ENST00000405925.1_Silent_p.N651N|LIG4_ENST00000442234.1_Silent_p.N651N	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	651					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGTTAACGTTAGTAAGGT	0.373								Non-homologous end-joining																																									0													69.0	70.0	70.0					13																	108861664		2202	4300	6502	SO:0001819	synonymous_variant	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1953C>T	13.37:g.108861664G>A			Q8IY66|Q8TEU5	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.N651	ENST00000356922.4	37	c.1953	CCDS9508.1	13																																																																																			LIG4	-	superfamily_BRCT_dom		0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	G	NM_002312		108861664	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	silent	SNP	0.000	A
FAM230A	653203	genome.wustl.edu	37	22	20709962	20709962	+	Missense_Mutation	SNP	C	C	T	rs370748971		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr22:20709962C>T	ENST00000434783.3	+	8	1878	c.1694C>T	c.(1693-1695)tCg>tTg	p.S565L	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		CCGACGGCATCGCTGAGGACG	0.657																																																	0																																										SO:0001583	missense	101060787			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1694C>T	22.37:g.20709962C>T	ENSP00000463576:p.Ser565Leu			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.S565L	ENST00000434783.3	37	c.1694		22																																																																																			AC007731.1	-	superfamily_Kinase-like_dom		0.657	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC101060787	Clone_based_vega_gene	protein_coding	OTTHUMT00000319609.4	C			20709962	+1	no_errors	ENST00000434783	ensembl	human	putative	70_37	missense	SNP	0.609	T
ZNF100	163227	genome.wustl.edu	37	19	21934344	21934344	+	Intron	SNP	G	G	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:21934344G>T	ENST00000358296.6	-	3	295				ZNF100_ENST00000596452.1_5'Flank|AC092364.2_ENST00000579465.1_RNA|ZNF100_ENST00000305570.6_5'Flank|RP11-420K14.6_ENST00000596710.1_RNA	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AACTAGAAAAGGATTGTTCTG	0.448																																																	0																																										SO:0001627	intron_variant	641367			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.97-6475C>A	19.37:g.21934344G>T			Q7M4M0	RNA	SNP	-	NULL	ENST00000358296.6	37	NULL	CCDS42538.1	19																																																																																			RP11-420K14.6	-	-		0.448	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC641367	Clone_based_vega_gene	protein_coding	OTTHUMT00000464087.1	G	NM_173531		21934344	+1	no_errors	ENST00000596710	ensembl	human	known	70_37	rna	SNP	1.000	T
NPIPB6	728741	genome.wustl.edu	37	16	28354507	28354507	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:28354507G>A	ENST00000532254.1	-	7	1384	c.699C>T	c.(697-699)gtC>gtT	p.V233V	NPIPB6_ENST00000533640.1_Silent_p.V215V	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	233																	CCACCATTCTGACCTGTAGGG	0.493																																																	0																																										SO:0001819	synonymous_variant	728741				CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.699C>T	16.37:g.28354507G>A				Silent	SNP	pfam_NPIP	p.V233	ENST00000532254.1	37	c.699		16																																																																																			A-575C2.4	-	pfam_NPIP		0.493	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	LOC728741	Uniprot_genename	protein_coding	OTTHUMT00000389133.1	G	XM_001717652		28354507	-1	no_errors	ENST00000532254	ensembl	human	novel	70_37	silent	SNP	0.003	A
LRRC14B	389257	genome.wustl.edu	37	5	191752	191752	+	Silent	SNP	C	C	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:191752C>G	ENST00000328278.3	+	1	127	c.99C>G	c.(97-99)ctC>ctG	p.L33L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	33										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCCACAACCTCTACCCACTCC	0.662																																																	0													20.0	23.0	22.0					5																	191752		2069	4216	6285	SO:0001819	synonymous_variant	389257				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.99C>G	5.37:g.191752C>G				Silent	SNP	NULL	p.L33	ENST00000328278.3	37	c.99	CCDS47184.1	5																																																																																			LRRC14B	-	NULL		0.662	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	HGNC	protein_coding	OTTHUMT00000365393.2	C	NM_001080478		191752	+1	no_errors	ENST00000328278	ensembl	human	novel	70_37	silent	SNP	1.000	G
MAGED2	10916	genome.wustl.edu	37	X	54839587	54839587	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:54839587G>A	ENST00000375068.1	+	9	1435	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000396224.1_Missense_Mutation_p.R401H|MAGED2_ENST00000347546.4_Missense_Mutation_p.R383H|MAGED2_ENST00000375060.1_Missense_Mutation_p.R316H|MAGED2_ENST00000375058.1_Missense_Mutation_p.R401H|MAGED2_ENST00000375053.2_Missense_Mutation_p.R401H|MAGED2_ENST00000375062.4_Missense_Mutation_p.R316H|MAGED2_ENST00000218439.4_Missense_Mutation_p.R401H			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	401	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.R401H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TTGGGGCTGCGCCCTGGGTAT	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											141.0	124.0	130.0					X																	54839587		2203	4300	6503	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1202G>A	X.37:g.54839587G>A	ENSP00000364209:p.Arg401His		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R401H	ENST00000375068.1	37	c.1202	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587458	0.28268	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64;3.64	4.18	3.3	0.37823	.	0.000000	0.38272	N	0.001757	T	0.04048	0.0113	L	0.35723	1.085	0.30683	N	0.752181	B;B	0.27416	0.178;0.038	B;B	0.28784	0.094;0.028	T	0.11036	-1.0604	10	0.29301	T	0.29	.	6.0385	0.19720	0.1394:0.0:0.8606:0.0	.	316;401	Q5H907;Q9UNF1	.;MAGD2_HUMAN	H	401;401;345;383;316;401;401;316;401	ENSP00000364209:R401H;ENSP00000364193:R401H;ENSP00000336962:R345H;ENSP00000340290:R383H;ENSP00000364202:R316H;ENSP00000218439:R401H;ENSP00000364198:R401H;ENSP00000364200:R316H;ENSP00000379526:R401H	ENSP00000218439:R401H	R	+	2	0	MAGED2	54856312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.193000	0.50997	2.031000	0.59945	0.600000	0.82982	CGC	MAGED2	-	pfam_MAGE,pfscan_MAGE		0.572	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	G	NM_014599		54839587	+1	no_errors	ENST00000218439	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGI2	9863	genome.wustl.edu	37	7	77789556	77789556	+	Silent	SNP	G	G	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:77789556G>C	ENST00000354212.4	-	16	2884	c.2631C>G	c.(2629-2631)ggC>ggG	p.G877G	MAGI2_ENST00000419488.1_Silent_p.G863G|MAGI2_ENST00000522391.1_Silent_p.G877G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	877					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGATACAGAGCCTGGACTTC	0.537																																																	0													129.0	119.0	122.0					7																	77789556		2203	4300	6503	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2631C>G	7.37:g.77789556G>C			A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.G877	ENST00000354212.4	37	c.2631	CCDS5594.1	7																																																																																			MAGI2	-	NULL		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	G	NM_012301		77789556	-1	no_errors	ENST00000354212	ensembl	human	known	70_37	silent	SNP	1.000	C
MAP3K15	389840	genome.wustl.edu	37	X	19392605	19392605	+	Silent	SNP	G	G	A	rs267606415		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:19392605G>A	ENST00000338883.4	-	20	2762	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	MAP3K15_ENST00000359173.3_Silent_p.F356F|MAP3K15_ENST00000469203.2_Silent_p.F753F|MAP3K15_ENST00000518578.1_5'UTR|Y_RNA_ENST00000365274.1_RNA	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	921							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGAGGGCTTGAAGGCAATTC	0.592																																																	0													118.0	86.0	97.0					X																	19392605		2203	4300	6503	SO:0001819	synonymous_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2763C>T	X.37:g.19392605G>A			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F921	ENST00000338883.4	37	c.2763		X																																																																																			MAP3K15	-	superfamily_Kinase-like_dom		0.592	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		G	NM_001001671		19392605	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	silent	SNP	1.000	A
MAGT1	84061	genome.wustl.edu	37	X	77131014	77131014	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:77131014G>A	ENST00000373336.3	-	2	212	c.183C>T	c.(181-183)ttC>ttT	p.F61F	MAGT1_ENST00000358075.6_Silent_p.F93F			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	61	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CAAGGCGACGGAACTTGTCTC	0.428																																																	0													232.0	212.0	219.0					X																	77131014		2203	4296	6499	SO:0001819	synonymous_variant	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.183C>T	X.37:g.77131014G>A			B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.F93	ENST00000373336.3	37	c.279		X																																																																																			MAGT1	-	superfamily_Thioredoxin-like_fold		0.428	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057302.2	G	NM_032121		77131014	-1	no_errors	ENST00000358075	ensembl	human	known	70_37	silent	SNP	0.965	A
MAP4K2	5871	genome.wustl.edu	37	11	64567842	64567842	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr11:64567842G>A	ENST00000294066.2	-	11	839	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.L250F	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCCAGTTTGAGAAAGTGGTGG	0.602																																																	0													59.0	62.0	61.0					11																	64567842		2201	4297	6498	SO:0001583	missense	5871			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.748C>T	11.37:g.64567842G>A	ENSP00000294066:p.Leu250Phe		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.L250F	ENST00000294066.2	37	c.748	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617945	0.46736	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	T;T;T	0.70164	-0.46;-0.46;1.56	4.3	3.37	0.38596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178077	0.37095	N	0.002258	T	0.76241	0.3960	M	0.80332	2.49	0.37754	D	0.926066	P;D	0.55385	0.856;0.971	P;P	0.58331	0.78;0.837	T	0.79408	-0.1816	10	0.87932	D	0	.	7.7647	0.28972	0.0:0.1794:0.6353:0.1853	.	250;250	Q86VU3;Q12851	.;M4K2_HUMAN	F	250;250;206	ENSP00000294066:L250F;ENSP00000366567:L250F;ENSP00000403563:L206F	ENSP00000294066:L250F	L	-	1	0	MAP4K2	64324418	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	1.866000	0.39489	0.950000	0.37743	0.456000	0.33151	CTC	MAP4K2	-	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		0.602	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	G	NM_004579		64567842	-1	no_errors	ENST00000294066	ensembl	human	known	70_37	missense	SNP	1.000	A
MAPK11	5600	genome.wustl.edu	37	22	50705350	50705350	+	Intron	SNP	C	C	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr22:50705350C>A	ENST00000330651.6	-	7	711				MAPK11_ENST00000495277.1_5'Flank|MAPK11_ENST00000449719.2_Missense_Mutation_p.R100M	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11						activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CCCCCAAGGCCTTCCCCCTGC	0.627																																					GBM(9;634 739 50668)												0													61.0	46.0	51.0					22																	50705350		2200	4300	6500	SO:0001627	intron_variant	5600			Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.610+12G>T	22.37:g.50705350C>A			A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	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,pfscan_Prot_kinase_cat_dom	p.R100M	ENST00000330651.6	37	c.299	CCDS14090.1	22	.	.	.	.	.	.	.	.	.	.	c	11.73	1.726733	0.30593	.	.	ENSG00000185386	ENST00000449719	T	0.72615	-0.67	1.12	-0.0997	0.13623	.	.	.	.	.	T	0.48732	0.1516	.	.	.	0.09310	N	1	P	0.36712	0.566	B	0.21360	0.034	T	0.39461	-0.9613	8	0.72032	D	0.01	.	4.2441	0.10663	0.3944:0.6056:0.0:0.0	.	100	B7Z630	.	M	100	ENSP00000406921:R100M	ENSP00000406921:R100M	R	-	2	0	MAPK11	49047477	0.000000	0.05858	0.000000	0.03702	0.350000	0.29205	-1.506000	0.02271	0.022000	0.15160	0.436000	0.28706	AGG	MAPK11	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.627	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK11	HGNC	protein_coding	OTTHUMT00000316900.1	C			50705350	-1	no_errors	ENST00000449719	ensembl	human	known	70_37	missense	SNP	0.000	A
MEF2A	4205	genome.wustl.edu	37	15	100252710	100252715	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-	rs3138597|rs58424802|rs373652230		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	CAGCAG	CAGCAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:100252710_100252715delCAGCAG	ENST00000557785.1	+	11	1577_1582	c.1228_1233delCAGCAG	c.(1228-1233)cagcagdel	p.QQ418del	MEF2A_ENST00000557942.1_In_Frame_Del_p.QQ426del|MEF2A_ENST00000453228.2_In_Frame_Del_p.QQ418del|MEF2A_ENST00000558812.1_In_Frame_Del_p.QQ358del|MEF2A_ENST00000338042.6_In_Frame_Del_p.QQ427del|MEF2A_ENST00000354410.5_In_Frame_Del_p.QQ420del|MEF2A_ENST00000449277.2_In_Frame_Del_p.QQ350del	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	428					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ATCGGGCTTCcagcagcagcagcagc	0.607																																																	0																																										SO:0001651	inframe_deletion	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1228_1233delCAGCAG	15.37:g.100252716_100252721delCAGCAG	ENSP00000453441:p.Gln418_Gln419del		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	In_Frame_Del	DEL	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.QQ422in_frame_del	ENST00000557785.1	37	c.1255_1260	CCDS53978.1	15																																																																																			MEF2A	-	NULL		0.607	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1	CAGCAG			100252715	+1	no_errors	ENST00000338042	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000	-
MEGF8	1954	genome.wustl.edu	37	19	42860054	42860054	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:42860054C>T	ENST00000251268.6	+	24	4289	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V	MEGF8_ENST00000334370.4_Missense_Mutation_p.A1363V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1430	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGCAGGTGCGGGGCTCTGC	0.672																																																	0													22.0	21.0	22.0					19																	42860054		2203	4295	6498	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4289C>T	19.37:g.42860054C>T	ENSP00000251268:p.Ala1430Val		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.A1430V	ENST00000251268.6	37	c.4289		19	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041722	0.55003	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.03	4.76	4.76	0.60689	Epidermal growth factor-like, type 3 (1);	0.168004	0.39274	N	0.001408	T	0.22742	0.0549	N	0.08118	0	0.80722	D	1	P;D	0.76494	0.765;0.999	B;P	0.59546	0.055;0.859	T	0.15178	-1.0446	10	0.30854	T	0.27	-8.4118	16.7031	0.85364	0.0:1.0:0.0:0.0	.	1430;1363	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	1363;1430	ENSP00000334219:A1363V;ENSP00000251268:A1430V	ENSP00000251268:A1430V	A	+	2	0	MEGF8	47551894	0.332000	0.24722	0.965000	0.40720	0.806000	0.45545	0.697000	0.25556	2.490000	0.84030	0.563000	0.77884	GCG	MEGF8	-	smart_EG-like_dom,pfscan_EG-like_dom		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	C	NM_001410		42860054	+1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	0.991	T
SVIL	6840	genome.wustl.edu	37	10	29833999	29833999	+	Intron	SNP	G	G	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr10:29833999G>T	ENST00000355867.4	-	6	1580				SVIL_ENST00000375398.2_Intron|SVIL_ENST00000375400.3_Intron|MIR604_ENST00000384880.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin						cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTGGACACGAGAGCGTGGAAG	0.522																																																	0													116.0	104.0	108.0					10																	29833999		1568	3582	5150	SO:0001627	intron_variant	693189			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.827+5526C>A	10.37:g.29833999G>T			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	RNA	SNP	-	NULL	ENST00000355867.4	37	NULL	CCDS7164.1	10																																																																																			MIR604	-	-		0.522	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MIR604	HGNC	protein_coding	OTTHUMT00000047395.1	G			29833999	-1	no_errors	ENST00000384880	ensembl	human	known	70_37	rna	SNP	0.002	T
MSRB3	253827	genome.wustl.edu	37	12	65857049	65857049	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:65857049G>A	ENST00000355192.3	+	6	652	c.526G>A	c.(526-528)Gag>Aag	p.E176K	MSRB3_ENST00000308259.5_Missense_Mutation_p.E169K|MSRB3_ENST00000535664.1_Missense_Mutation_p.E169K	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	176					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.E169K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGGCACCGCCGAGGGAGGCAG	0.527																																																	1	Substitution - Missense(1)	central_nervous_system(1)											65.0	60.0	62.0					12																	65857049		2203	4300	6503	SO:0001583	missense	253827			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.526G>A	12.37:g.65857049G>A	ENSP00000347324:p.Glu176Lys		B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB	p.E176K	ENST00000355192.3	37	c.526	CCDS8973.1	12	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157256	0.21454	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664	T;T;T	0.63913	-0.07;-0.07;-0.07	5.65	1.72	0.24424	.	2.179660	0.01771	N	0.031212	T	0.51907	0.1702	L	0.33245	0.995	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24584	-1.0156	9	.	.	.	-27.9321	7.4735	0.27363	0.1387:0.257:0.6043:0.0	.	176;169	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	K	176;169;169	ENSP00000347324:E176K;ENSP00000312274:E169K;ENSP00000441650:E169K	.	E	+	1	0	MSRB3	64143316	0.001000	0.12720	0.000000	0.03702	0.189000	0.23516	1.024000	0.30077	0.410000	0.25675	0.655000	0.94253	GAG	MSRB3	-	NULL		0.527	MSRB3-001	KNOWN	basic|CCDS	protein_coding	MSRB3	HGNC	protein_coding	OTTHUMT00000401421.1	G	NM_198080		65857049	+1	no_errors	ENST00000355192	ensembl	human	known	70_37	missense	SNP	0.001	A
MTTP	4547	genome.wustl.edu	37	4	100528037	100528037	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr4:100528037G>A	ENST00000265517.5	+	11	1680	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.A493T|MTTP_ENST00000511045.1_Missense_Mutation_p.A520T			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	493	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCTGAAGTATGCAGAAGCAGG	0.463																																																	0													61.0	64.0	63.0					4																	100528037		2203	4300	6503	SO:0001583	missense	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1477G>A	4.37:g.100528037G>A	ENSP00000265517:p.Ala493Thr		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A493T	ENST00000265517.5	37	c.1477	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462486	0.63513	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.70164	-0.46;-0.46;-0.46	5.51	4.67	0.58626	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.096867	0.64402	N	0.000001	T	0.70718	0.3256	M	0.77103	2.36	0.58432	D	0.999999	B;B	0.31485	0.325;0.085	B;B	0.38106	0.265;0.042	T	0.69401	-0.5155	10	0.34782	T	0.22	-18.9248	14.3465	0.66668	0.0713:0.0:0.9287:0.0	.	520;493	E9PBP6;P55157	.;MTP_HUMAN	T	520;493;493;493	ENSP00000427679:A520T;ENSP00000400821:A493T;ENSP00000265517:A493T	ENSP00000265517:A493T	A	+	1	0	MTTP	100747060	1.000000	0.71417	0.081000	0.20488	0.796000	0.44982	4.559000	0.60796	1.323000	0.45263	0.655000	0.94253	GCA	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.463	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	G			100528037	+1	no_errors	ENST00000265517	ensembl	human	known	70_37	missense	SNP	0.967	A
MYO10	4651	genome.wustl.edu	37	5	16755013	16755013	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:16755013G>A	ENST00000513610.1	-	19	2307	c.1853C>T	c.(1852-1854)tCa>tTa	p.S618L		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	618	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGAATGCAGTGAGTCCTATTA	0.348																																																	0													58.0	56.0	57.0					5																	16755013		1938	4166	6104	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1853C>T	5.37:g.16755013G>A	ENSP00000421280:p.Ser618Leu		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.S618L	ENST00000513610.1	37	c.1853	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.304361	0.95601	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.74842	-0.88;-0.88	5.77	5.77	0.91146	Myosin head, motor domain (2);	.	.	.	.	D	0.91054	0.7185	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92999	0.6421	9	0.87932	D	0	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	259;618	Q69YP8;Q9HD67	.;MYO10_HUMAN	L	618;629	ENSP00000421280:S618L;ENSP00000421309:S629L	ENSP00000421280:S618L	S	-	2	0	MYO10	16808013	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	9.625000	0.98406	2.724000	0.93272	0.561000	0.74099	TCA	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.348	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	G	NM_012334		16755013	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	1.000	A
MYO1H	283446	genome.wustl.edu	37	12	109838973	109838973	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:109838973C>T	ENST00000431443.2	+	5	598	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	MYO1H_ENST00000310903.5_Missense_Mutation_p.R200W	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	200	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CGAAGGCGAGCGGAATTTCCA	0.507																																																	0													59.0	63.0	62.0					12																	109838973		2069	4209	6278	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.598C>T	12.37:g.109838973C>T	ENSP00000444076:p.Arg200Trp		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R200W	ENST00000431443.2	37	c.598		12	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371681	0.61624	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.94138	-3.36;-3.36	4.5	3.56	0.40772	.	.	.	.	.	D	0.98090	0.9370	H	0.99573	4.635	0.44234	D	0.997073	D	0.89917	1.0	D	0.97110	1.0	D	0.97672	1.0167	9	0.87932	D	0	.	11.3992	0.49860	0.5437:0.4563:0.0:0.0	.	200	F5H3C6	.	W	200	ENSP00000439182:R200W;ENSP00000444076:R200W	ENSP00000439182:R200W	R	+	1	2	MYO1H	108323356	1.000000	0.71417	0.990000	0.47175	0.507000	0.33981	2.658000	0.46733	0.896000	0.36366	0.650000	0.86243	CGG	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.507	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		C	NM_173597		109838973	+1	no_errors	ENST00000431443	ensembl	human	known	70_37	missense	SNP	1.000	T
MYOM2	9172	genome.wustl.edu	37	8	2037985	2037985	+	Missense_Mutation	SNP	C	C	T	rs200560063		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr8:2037985C>T	ENST00000262113.4	+	15	1940	c.1799C>T	c.(1798-1800)aCg>aTg	p.T600M	MYOM2_ENST00000523438.1_Missense_Mutation_p.T25M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	600	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGGAGATAACGTCCCCCATT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18263	0.001		0.0	False		,,,				2504	0.0																0													113.0	88.0	97.0					8																	2037985		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1799C>T	8.37:g.2037985C>T	ENSP00000262113:p.Thr600Met		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T600M	ENST00000262113.4	37	c.1799	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801166	0.50315	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.55052	0.54;0.54	5.6	5.6	0.85130	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.107467	0.64402	D	0.000009	T	0.79155	0.4398	M	0.90019	3.08	0.44500	D	0.997446	D	0.89917	1.0	D	0.76575	0.988	T	0.83121	-0.0118	10	0.87932	D	0	.	19.6185	0.95645	0.0:1.0:0.0:0.0	.	600	P54296	MYOM2_HUMAN	M	600;25	ENSP00000262113:T600M;ENSP00000428396:T25M	ENSP00000262113:T600M	T	+	2	0	MYOM2	2025392	1.000000	0.71417	0.108000	0.21378	0.009000	0.06853	6.507000	0.73717	2.641000	0.89580	0.462000	0.41574	ACG	MYOM2	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	C	NM_003970		2037985	+1	no_errors	ENST00000262113	ensembl	human	known	70_37	missense	SNP	0.963	T
NLGN1	22871	genome.wustl.edu	37	3	173998546	173998546	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr3:173998546A>G	ENST00000457714.1	+	7	2354	c.1925A>G	c.(1924-1926)aAt>aGt	p.N642S	NLGN1_ENST00000361589.4_Missense_Mutation_p.N642S|NLGN1_ENST00000401917.3_Missense_Mutation_p.N682S|NLGN1_ENST00000545397.1_Missense_Mutation_p.N642S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	659					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACGAGAAAAAATTCTGTACCT	0.428																																																	0													118.0	119.0	118.0					3																	173998546		2203	4300	6503	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1925A>G	3.37:g.173998546A>G	ENSP00000392500:p.Asn642Ser		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.N682S	ENST00000457714.1	37	c.2045	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	A	3.317	-0.139636	0.06669	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.64618	-0.1;-0.1;-0.1;-0.11	5.59	5.59	0.84812	.	0.098878	0.64402	D	0.000002	T	0.33962	0.0881	N	0.02011	-0.69	0.40675	D	0.982257	B	0.10296	0.003	B	0.04013	0.001	T	0.38112	-0.9676	10	0.07175	T	0.84	.	16.07	0.80919	1.0:0.0:0.0:0.0	.	642	Q8N2Q7-2	.	S	642;642;642;682	ENSP00000392500:N642S;ENSP00000354541:N642S;ENSP00000441108:N642S;ENSP00000385750:N682S	ENSP00000354541:N642S	N	+	2	0	NLGN1	175481240	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.172000	0.50832	2.254000	0.74563	0.533000	0.62120	AAT	NLGN1	-	NULL		0.428	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	A	NM_014932		173998546	+1	no_errors	ENST00000401917	ensembl	human	known	70_37	missense	SNP	1.000	G
NLRC3	197358	genome.wustl.edu	37	16	3611719	3611719	+	RNA	SNP	G	G	A	rs545030726	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:3611719G>A	ENST00000301749.7	-	0	2404				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGAATGCGACAGTCCTTC	0.592																																																	0													92.0	102.0	99.0					16																	3611719		2103	4215	6318			197358			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3611719G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R714C	ENST00000301749.7	37	c.2140		16	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398049	0.62177	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.54071	0.59;0.59;0.59	5.55	3.57	0.40892	.	0.481828	0.22726	N	0.056399	T	0.44932	0.1317	.	.	.	0.30602	N	0.760454	P	0.35780	0.52	B	0.42522	0.39	T	0.47799	-0.9089	9	0.37606	T	0.19	.	6.3422	0.21328	0.167:0.1506:0.6823:0.0	.	714	C9JLH9	.	C	667;667;667;714	ENSP00000301749:R667C;ENSP00000352039:R667C;ENSP00000414415:R714C	ENSP00000301749:R667C	R	-	1	0	NLRC3	3551720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.991000	0.63883	1.361000	0.45981	0.555000	0.69702	CGC	NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.592	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		G	NM_178844		3611719	-1	no_errors	ENST00000448023	ensembl	human	known	70_37	missense	SNP	1.000	A
NOD2	64127	genome.wustl.edu	37	16	50745398	50745399	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:50745398_50745399insC	ENST00000300589.2	+	4	1681_1682	c.1576_1577insC	c.(1576-1578)accfs	p.T526fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	526	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTGCATGCCACCCCCCCAGAC	0.619																																																	0																																										SO:0001589	frameshift_variant	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1583dupC	16.37:g.50745405_50745405dupC	ENSP00000300589:p.Thr526fs		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Ins	INS	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.D529fs	ENST00000300589.2	37	c.1576_1577	CCDS10746.1	16																																																																																			NOD2	-	NULL		0.619	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	-	NM_022162		50745399	+1	no_errors	ENST00000300589	ensembl	human	known	70_37	frame_shift_ins	INS	0.967:0.928	C
NRCAM	4897	genome.wustl.edu	37	7	107790405	107790405	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:107790405C>T	ENST00000425651.2	-	30	3864	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Missense_Mutation_p.E1165K|NRCAM_ENST00000379028.3_Missense_Mutation_p.E1289K|NRCAM_ENST00000379024.4_Missense_Mutation_p.E1177K|NRCAM_ENST00000351718.4_Missense_Mutation_p.E1168K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1289					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCTGAGCTTTCGTTTCCTTCA	0.413																																																	0													161.0	150.0	154.0					7																	107790405		2203	4300	6503	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3865G>A	7.37:g.107790405C>T	ENSP00000401244:p.Glu1289Lys		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1289K	ENST00000425651.2	37	c.3865	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711616	0.89112	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651	T;T;T;T;T	0.59638	0.25;0.53;0.25;0.31;0.25	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	L	0.35414	1.06	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.99;1.0;0.995;0.999;0.96;0.997	D;P;D;P;D;B;D	0.87578	0.987;0.707;0.998;0.838;0.968;0.266;0.955	T	0.65768	-0.6088	10	0.42905	T	0.14	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1293;135;1165;1177;1168;1289;72	Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823;Q6QRP2	.;.;.;.;.;NRCAM_HUMAN;.	K	1293;1289;1165;133;1168;1177;1289	ENSP00000368314:E1289K;ENSP00000407858:E1165K;ENSP00000325269:E1168K;ENSP00000368310:E1177K;ENSP00000401244:E1289K	ENSP00000325269:E1168K	E	-	1	0	NRCAM	107577641	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAA	NRCAM	-	NULL		0.413	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	C	NM_001037132		107790405	-1	no_errors	ENST00000379028	ensembl	human	known	70_37	missense	SNP	1.000	T
OFD1	8481	genome.wustl.edu	37	X	13753462	13753462	+	Silent	SNP	C	C	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:13753462C>G	ENST00000340096.6	+	2	435	c.108C>G	c.(106-108)ctC>ctG	p.L36L	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Silent_p.L36L|TRAPPC2_ENST00000358231.5_5'Flank|TRAPPC2_ENST00000359680.5_5'Flank|OFD1_ENST00000398395.3_Silent_p.L36L|OFD1_ENST00000380567.1_5'UTR|TRAPPC2_ENST00000453655.2_5'Flank|TRAPPC2_ENST00000458511.2_5'Flank|TRAPPC2_ENST00000380579.1_5'Flank|TRAPPC2_ENST00000519885.1_5'Flank	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	36					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						TGGATACACTCAAGGTATCGG	0.393																																																	0													148.0	116.0	127.0					X																	13753462		2203	4300	6503	SO:0001819	synonymous_variant	8481			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.108C>G	X.37:g.13753462C>G			B9ZVU5|O75666|Q4VAK4	Silent	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L36	ENST00000340096.6	37	c.108	CCDS14157.1	X																																																																																			OFD1	-	NULL		0.393	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	C	NM_003611		13753462	+1	no_errors	ENST00000340096	ensembl	human	known	70_37	silent	SNP	0.998	G
PACS2	23241	genome.wustl.edu	37	14	105848292	105848292	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:105848292C>T	ENST00000325438.8	+	13	1814	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	PACS2_ENST00000458164.2_Missense_Mutation_p.S437F|PACS2_ENST00000430725.2_Missense_Mutation_p.S362F|PACS2_ENST00000447393.1_Missense_Mutation_p.S437F|PACS2_ENST00000547217.1_Missense_Mutation_p.S407F|PACS2_ENST00000551743.1_5'Flank			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	437					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGGAGCACATCCTTGAAGGAG	0.672																																																	0													22.0	21.0	21.0					14																	105848292		2103	4136	6239	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1310C>T	14.37:g.105848292C>T	ENSP00000321834:p.Ser437Phe		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	pfam_Phosphofurin_acidic_CS-1	p.S437F	ENST00000325438.8	37	c.1310	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537066	0.65085	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.25749	1.81;1.81;1.78;1.78;1.8	4.71	4.71	0.59529	.	0.059585	0.64402	D	0.000001	T	0.48314	0.1493	L	0.59436	1.845	0.80722	D	1	P;P;P;D	0.76494	0.937;0.544;0.936;0.999	P;B;P;D	0.85130	0.612;0.234;0.547;0.997	T	0.50242	-0.8851	10	0.72032	D	0.01	-3.4309	16.5659	0.84599	0.0:1.0:0.0:0.0	.	437;437;437;438	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	F	362;437;437;437;407	ENSP00000393524:S362F;ENSP00000321834:S437F;ENSP00000399732:S437F;ENSP00000393559:S437F;ENSP00000449525:S407F	ENSP00000321834:S437F	S	+	2	0	PACS2	104919337	1.000000	0.71417	0.864000	0.33941	0.298000	0.27526	7.520000	0.81821	2.314000	0.78098	0.650000	0.86243	TCC	PACS2	-	NULL		0.672	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	C	XM_377355		105848292	+1	no_errors	ENST00000458164	ensembl	human	known	70_37	missense	SNP	0.994	T
PCDHA2	56146	genome.wustl.edu	37	5	140176333	140176333	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr5:140176333G>A	ENST00000526136.1	+	1	1784	c.1784G>A	c.(1783-1785)cGc>cAc	p.R595H	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R595H|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R595H|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	595	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.677																																																	0													154.0	138.0	143.0					5																	140176333		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1784G>A	5.37:g.140176333G>A	ENSP00000431748:p.Arg595His		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R595H	ENST00000526136.1	37	c.1784	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	g	4.536	0.099567	0.08681	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52526	0.66;0.66;0.66	3.91	3.02	0.34903	Cadherin (4);Cadherin-like (1);	0.185145	0.26023	N	0.026806	T	0.29190	0.0726	N	0.20530	0.585	0.09310	N	1	B;B;B	0.32324	0.236;0.178;0.364	B;B;B	0.35550	0.046;0.077;0.205	T	0.12682	-1.0538	10	0.42905	T	0.14	.	4.298	0.10911	0.2843:0.1718:0.5439:0.0	.	595;595;595	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	H	595	ENSP00000430584:R595H;ENSP00000367372:R595H;ENSP00000431748:R595H	ENSP00000367372:R595H	R	+	2	0	PCDHA2	140156517	0.000000	0.05858	0.964000	0.40570	0.056000	0.15407	-0.413000	0.07123	0.743000	0.32719	0.549000	0.68633	CGC	PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140176333	+1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.002	A
PCNXL4	64430	genome.wustl.edu	37	14	60591234	60591234	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:60591234T>C	ENST00000406854.1	+	9	2899	c.2345T>C	c.(2344-2346)gTt>gCt	p.V782A	PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V782A|PCNXL4_ENST00000317623.4_Missense_Mutation_p.V548A|PCNXL4_ENST00000406949.1_Missense_Mutation_p.V548A			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	782						integral component of membrane (GO:0016021)											AAAGAGAATGTTCACAACACT	0.383																																																	0													106.0	114.0	111.0					14																	60591234		2203	4299	6502	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2345T>C	14.37:g.60591234T>C	ENSP00000384801:p.Val782Ala		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.V782A	ENST00000406854.1	37	c.2345		14	.	.	.	.	.	.	.	.	.	.	T	8.142	0.785455	0.16189	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.23147	1.93;1.92;1.92;1.92	5.3	2.93	0.34026	.	1.498590	0.03257	N	0.182706	T	0.22322	0.0538	L	0.29908	0.895	0.19775	N	0.999956	B;B	0.26318	0.011;0.146	B;B	0.22152	0.002;0.038	T	0.26121	-1.0112	10	0.44086	T	0.13	.	8.5655	0.33536	0.0:0.2952:0.0:0.7048	.	782;548	Q63HM2;B5MC47	CN135_HUMAN;.	A	548;782;548;782	ENSP00000317396:V548A;ENSP00000384801:V782A;ENSP00000385201:V548A;ENSP00000385713:V782A	ENSP00000317396:V548A	V	+	2	0	C14orf135	59660987	0.000000	0.05858	0.043000	0.18650	0.535000	0.34838	0.475000	0.22164	0.410000	0.25675	0.528000	0.53228	GTT	PCNXL4	-	NULL		0.383	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	T	NM_022495		60591234	+1	no_errors	ENST00000404681	ensembl	human	known	70_37	missense	SNP	0.004	C
JADE1	79960	genome.wustl.edu	37	4	129782960	129782960	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr4:129782960C>T	ENST00000226319.6	+	9	1363	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	PHF17_ENST00000413543.2_Silent_p.F361F|PHF17_ENST00000512960.1_Silent_p.F361F|PHF17_ENST00000452328.2_Silent_p.F349F|PHF17_ENST00000511647.1_Silent_p.F361F	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAGTCAAGTTCAAGTCCTATT	0.552																																																	0													120.0	130.0	127.0					4																	129782960		2203	4300	6503	SO:0001819	synonymous_variant	79960																														ENST00000226319.6:c.1083C>T	4.37:g.129782960C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.F361	ENST00000226319.6	37	c.1083	CCDS34062.1	4																																																																																			PHF17	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.552	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	C			129782960	+1	no_errors	ENST00000226319	ensembl	human	known	70_37	silent	SNP	1.000	T
PLOD1	5351	genome.wustl.edu	37	1	12009848	12009848	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:12009848G>A	ENST00000196061.4	+	3	214	c.187G>A	c.(187-189)Gac>Aac	p.D63N	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.D110N	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	63					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCTAGGGGAGGACTGGAATGT	0.557																																																	0													102.0	110.0	107.0					1																	12009848		2203	4300	6503	SO:0001583	missense	5351			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.187G>A	1.37:g.12009848G>A	ENSP00000196061:p.Asp63Asn		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.D110N	ENST00000196061.4	37	c.328	CCDS142.1	1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300216	0.40694	.	.	ENSG00000083444	ENST00000449038;ENST00000414311;ENST00000358133;ENST00000376369;ENST00000429000;ENST00000196061	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	3.89	3.89	0.44902	.	0.283189	0.33515	N	0.004832	T	0.19287	0.0463	L	0.54323	1.7	0.30990	N	0.721509	P;B	0.36465	0.554;0.126	B;B	0.24701	0.055;0.034	T	0.26950	-1.0088	10	0.59425	D	0.04	.	15.0417	0.71796	0.0:0.0:1.0:0.0	.	110;63	B4DR87;Q02809	.;PLOD1_HUMAN	N	110;63;63;110;63;63	ENSP00000414443:D110N;ENSP00000365548:D110N;ENSP00000405372:D63N;ENSP00000196061:D63N	ENSP00000196061:D63N	D	+	1	0	PLOD1	11932435	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	4.330000	0.59266	2.006000	0.58801	0.557000	0.71058	GAC	PLOD1	-	NULL		0.557	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	G	NM_000302		12009848	+1	no_errors	ENST00000376369	ensembl	human	known	70_37	missense	SNP	1.000	A
PLXNA3	55558	genome.wustl.edu	37	X	153694354	153694354	+	Missense_Mutation	SNP	G	G	A	rs368644346		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:153694354G>A	ENST00000369682.3	+	14	2784	c.2609G>A	c.(2608-2610)cGa>cAa	p.R870Q		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	870	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTTGTCCCGAGAGGTGGGC	0.662																																																	0									GLN/ARG	0,3835		0,0,1632,571	61.0	54.0	56.0		2609	3.3	0.2	X		56	1,6727		0,1,2427,1872	no	missense	PLXNA3	NM_017514.3	43	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging	870/1872	153694354	1,10562	2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2609G>A	X.37:g.153694354G>A	ENSP00000358696:p.Arg870Gln		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R870Q	ENST00000369682.3	37	c.2609	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567196	0.28003	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.76448	-1.02	5.32	3.26	0.37387	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.258740	0.32802	N	0.005633	T	0.52805	0.1757	N	0.14661	0.345	0.09310	N	1	B	0.27286	0.174	B	0.26693	0.072	T	0.24012	-1.0172	10	0.15499	T	0.54	.	2.9288	0.05793	0.2058:0.0:0.408:0.3863	.	870	P51805	PLXA3_HUMAN	Q	870	ENSP00000358696:R870Q	ENSP00000358696:R870Q	R	+	2	0	PLXNA3	153347548	0.000000	0.05858	0.234000	0.24042	0.449000	0.32228	0.689000	0.25437	2.204000	0.70986	0.597000	0.82753	CGA	PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153694354	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	0.007	A
PLXNA4	91584	genome.wustl.edu	37	7	132193251	132193251	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:132193251C>T	ENST00000359827.3	-	2	1164	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V68I|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V68I|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V68I			Q9HCM2	PLXA4_HUMAN	plexin A4	68	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATCCGATTGACGGCCCCCAAG	0.572																																																	0													57.0	61.0	60.0					7																	132193251		2203	4300	6503	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.202G>A	7.37:g.132193251C>T	ENSP00000352882:p.Val68Ile		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V68I	ENST00000359827.3	37	c.202	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164587	0.38217	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	U	0.000031	T	0.15782	0.0380	L	0.47016	1.485	0.80722	D	1	B;B;B	0.32324	0.314;0.364;0.115	B;B;B	0.42112	0.107;0.376;0.05	T	0.04855	-1.0922	10	0.30854	T	0.27	.	13.4581	0.61210	0.0:0.9247:0.0:0.0753	.	68;68;68	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	I	68	ENSP00000323194:V68I;ENSP00000352882:V68I;ENSP00000392772:V68I;ENSP00000367800:V68I	ENSP00000323194:V68I	V	-	1	0	PLXNA4	131843791	0.999000	0.42202	0.998000	0.56505	0.919000	0.55068	4.100000	0.57762	2.537000	0.85549	0.462000	0.41574	GTC	PLXNA4	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	C	NM_181775		132193251	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	missense	SNP	1.000	T
PPOX	5498	genome.wustl.edu	37	1	161139317	161139317	+	Intron	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr1:161139317C>T	ENST00000367999.4	+	8	1073				B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACCCAATCTCTTCATCCTGG	0.478																																																	0																																										SO:0001627	intron_variant	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.808-133C>T	1.37:g.161139317C>T			D3DVG0|Q5VTW8	RNA	SNP	-	NULL	ENST00000367999.4	37	NULL	CCDS1221.1	1																																																																																			PPOX	-	-		0.478	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	C	NM_000309		161139317	+1	no_errors	ENST00000462977	ensembl	human	known	70_37	rna	SNP	0.104	T
PTER	9317	genome.wustl.edu	37	10	16526606	16526606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr10:16526606C>T	ENST00000378000.1	+	3	469	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	PTER_ENST00000423462.2_Nonsense_Mutation_p.Q75*|PTER_ENST00000298942.3_Nonsense_Mutation_p.Q75*|PTER_ENST00000535784.2_Nonsense_Mutation_p.Q75*	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	75					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TCAATTAAATCAGGAGACAGA	0.403																																					Ovarian(2;46 150 15648 38137 47908)												0													57.0	65.0	62.0					10																	16526606		2203	4300	6503	SO:0001587	stop_gained	9317			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.223C>T	10.37:g.16526606C>T	ENSP00000367239:p.Gln75*		B0YJ77|B3KTF5|D3DRU0|Q9BY46	Nonsense_Mutation	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_family	p.Q75*	ENST00000378000.1	37	c.223	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792369	0.70452	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	.	.	.	5.87	3.99	0.46301	.	0.096894	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-12.5041	16.8299	0.85941	0.0:0.7582:0.2418:0.0	.	.	.	.	X	75	.	ENSP00000298942:Q75X	Q	+	1	0	PTER	16566612	1.000000	0.71417	0.979000	0.43373	0.100000	0.18952	4.868000	0.63021	0.797000	0.33971	-0.165000	0.13383	CAG	PTER	-	pfam_Aryldialkylphosphatase		0.403	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	C	NM_030664		16526606	+1	no_errors	ENST00000298942	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PTPRR	5801	genome.wustl.edu	37	12	71050540	71050540	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:71050540C>T	ENST00000283228.2	-	13	2276	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L	PTPRR_ENST00000378778.1_Silent_p.L402L|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Silent_p.L363L|PTPRR_ENST00000549308.1_Silent_p.L363L|PTPRR_ENST00000342084.4_Silent_p.L496L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	608	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTTCTTCTTTCAGCTGTTGAC	0.418																																																	0													221.0	180.0	194.0					12																	71050540		2203	4300	6503	SO:0001819	synonymous_variant	5801			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1824G>A	12.37:g.71050540C>T			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt	p.L608	ENST00000283228.2	37	c.1824	CCDS8998.1	12																																																																																			PTPRR	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con		0.418	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	C	NM_002849		71050540	-1	no_errors	ENST00000283228	ensembl	human	known	70_37	silent	SNP	1.000	T
RBMXL3	139804	genome.wustl.edu	37	X	114426138	114426138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:114426138C>T	ENST00000424776.3	+	1	2176	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	712	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CGAGGAGTACCGAGGCCACTC	0.657																																																	0													48.0	51.0	50.0					X																	114426138		692	1591	2283	SO:0001587	stop_gained	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.2134C>T	X.37:g.114426138C>T	ENSP00000417451:p.Arg712*		B4DXC0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R712*	ENST00000424776.3	37	c.2134	CCDS55478.1	X	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490496	0.64074	.	.	ENSG00000175718	ENST00000424776	.	.	.	0.118	-0.237	0.13061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	712	.	ENSP00000417451:R712X	R	+	1	2	RBMXL3	114332394	0.019000	0.18553	0.004000	0.12327	0.004000	0.04260	0.048000	0.14078	-1.244000	0.02516	-1.247000	0.01520	CGA	RBMXL3	-	NULL		0.657	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	C	NM_001145346		114426138	+1	no_errors	ENST00000424776	ensembl	human	known	70_37	nonsense	SNP	0.021	T
REG1B	5968	genome.wustl.edu	37	2	79312385	79312385	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:79312385G>C	ENST00000305089.3	-	6	538	c.458C>G	c.(457-459)tCt>tGt	p.S153C		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	153	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTTCTCACAAGATTCATCCTT	0.403																																																	0													100.0	97.0	98.0					2																	79312385		2203	4300	6503	SO:0001583	missense	5968				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.458C>G	2.37:g.79312385G>C	ENSP00000303206:p.Ser153Cys			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S153C	ENST00000305089.3	37	c.458	CCDS1963.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.083|3.083	-0.188476|-0.188476	0.06299|0.06299	.|.	.|.	ENSG00000172023|ENSG00000172023	ENST00000454188|ENST00000305089	T|T	0.09073|0.09350	3.02|2.99	3.47|3.47	-6.94|-6.94	0.01633|0.01633	.|C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.|2.044120	.|0.03561	.|N	.|0.226976	T|T	0.20088|0.20088	0.0483|0.0483	M|M	0.82056|0.82056	2.57|2.57	0.09310|0.09310	N|N	1|1	.|P	.|0.52170	.|0.951	.|P	.|0.48304	.|0.573	T|T	0.46317|0.46317	-0.9200|-0.9200	7|10	0.87932|0.59425	D|D	0|0.04	.|.	9.6056|9.6056	0.39632|0.39632	0.0:0.1947:0.6386:0.1667|0.0:0.1947:0.6386:0.1667	.|.	.|153	.|P48304	.|REG1B_HUMAN	V|C	133|153	ENSP00000387410:L133V|ENSP00000303206:S153C	ENSP00000387410:L133V|ENSP00000303206:S153C	L|S	-|-	1|2	0|0	REG1B|REG1B	79165893|79165893	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	-0.954000|-0.954000	0.03873|0.03873	-1.884000|-1.884000	0.01119|0.01119	-0.516000|-0.516000	0.04426|0.04426	CTT|TCT	REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.403	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	G	NM_006507		79312385	-1	no_errors	ENST00000305089	ensembl	human	known	70_37	missense	SNP	0.000	C
RGPD3	653489	genome.wustl.edu	37	2	107041079	107041079	+	Missense_Mutation	SNP	G	G	A	rs534325470		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:107041079G>A	ENST00000409886.3	-	20	3431	c.3344C>T	c.(3343-3345)aCg>aTg	p.T1115M	RGPD3_ENST00000304514.7_Missense_Mutation_p.T1115M	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1115	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CATTGTAGTCGTTATCCAATG	0.423													.|||	1	0.000199681	0.0	0.0	5008	,	,		19479	0.0		0.0	False		,,,				2504	0.001																0													6.0	5.0	6.0					2																	107041079		683	1553	2236	SO:0001583	missense	653489				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3344C>T	2.37:g.107041079G>A	ENSP00000386588:p.Thr1115Met		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.T1115M	ENST00000409886.3	37	c.3344	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.22	1.574403	0.28092	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.50001	0.76;0.76	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.63070	0.2480	M	0.69248	2.105	0.40225	D	0.977789	D	0.89917	1.0	D	0.97110	1.0	T	0.66795	-0.5833	9	0.72032	D	0.01	-17.0719	10.4115	0.44296	0.0:0.0:1.0:0.0	.	1115	A6NKT7	RGPD3_HUMAN	M	1115;873;1115	ENSP00000386588:T1115M;ENSP00000303659:T1115M	ENSP00000303659:T1115M	T	-	2	0	RGPD3	106407511	1.000000	0.71417	0.778000	0.31720	0.234000	0.25298	6.383000	0.73172	1.314000	0.45095	0.186000	0.17326	ACG	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.423	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	G	XM_929931		107041079	-1	no_errors	ENST00000304514	ensembl	human	known	70_37	missense	SNP	0.998	A
SALL1	6299	genome.wustl.edu	37	16	51174607	51174607	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:51174607T>C	ENST00000251020.4	-	2	1559	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.N412S|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	509					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGATAGGGGTTCATCTGGAT	0.512																																					GBM(103;1352 1446 1855 4775 8890)												0													112.0	105.0	107.0					16																	51174607		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1526A>G	16.37:g.51174607T>C	ENSP00000251020:p.Asn509Ser		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N509S	ENST00000251020.4	37	c.1526	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460176	0.63401	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.08458	3.09;3.09	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	M	0.85630	2.765	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.19128	-1.0315	10	0.72032	D	0.01	.	15.2318	0.73395	0.0:0.0:0.0:1.0	.	509	Q9NSC2	SALL1_HUMAN	S	509;412;473	ENSP00000251020:N509S;ENSP00000407914:N412S	ENSP00000251020:N509S	N	-	2	0	SALL1	49732108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.990000	0.58119	0.460000	0.39030	AAC	SALL1	-	NULL		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	T	NM_002968		51174607	-1	no_errors	ENST00000251020	ensembl	human	known	70_37	missense	SNP	1.000	C
SAP130	79595	genome.wustl.edu	37	2	128783857	128783857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:128783857G>A	ENST00000259235.3	-	2	217	c.88C>T	c.(88-90)Caa>Taa	p.Q30*	SAP130_ENST00000357702.5_Nonsense_Mutation_p.Q30*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.Q4*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	30					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAAACTGTTGAGAACTCATT	0.433																																																	0													80.0	85.0	83.0					2																	128783857		2203	4300	6503	SO:0001587	stop_gained	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.88C>T	2.37:g.128783857G>A	ENSP00000259235:p.Gln30*		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	NULL	p.Q30*	ENST00000259235.3	37	c.88	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.175953	0.97348	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.2	5.2	0.72013	.	0.054940	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.5545	15.6615	0.77190	0.0:0.0:1.0:0.0	.	.	.	.	X	30;30;4;4;4	.	ENSP00000259234:Q4X	Q	-	1	0	SAP130	128500327	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	5.912000	0.69948	2.422000	0.82143	0.555000	0.69702	CAA	SAP130	-	NULL		0.433	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128783857	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SEC16A	9919	genome.wustl.edu	37	9	139342933	139342933	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr9:139342933G>A	ENST00000313084.5	-	1	361	c.99C>T	c.(97-99)atC>atT	p.I33I	SEC16A_ENST00000313050.7_Intron|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000398335.1_Silent_p.I33I|SEC16A_ENST00000371706.3_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACACCAGGAGGATGGAGGTGG	0.622																																																	0																																										SO:0001819	synonymous_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313084.5:c.99C>T	9.37:g.139342933G>A			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.I33	ENST00000313084.5	37	c.99		9																																																																																			SEC16A	-	NULL		0.622	SEC16A-002	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055078.1	G	XM_088459		139342933	-1	no_errors	ENST00000313084	ensembl	human	known	70_37	silent	SNP	0.878	A
SKOR1	390598	genome.wustl.edu	37	15	68126105	68126105	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr15:68126105C>T	ENST00000380035.2	+	9	2887	c.2829C>T	c.(2827-2829)ttC>ttT	p.F943F	RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Silent_p.F846F|SKOR1_ENST00000554054.1_Silent_p.F915F|RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000389002.1_Silent_p.F899F|SKOR1_ENST00000554240.1_Silent_p.F904F			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	943					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TGCACCATTTCTCCTGCAAGA	0.672											OREG0023216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93.0	86.0	88.0					15																	68126105		2200	4298	6498	SO:0001819	synonymous_variant	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2829C>T	15.37:g.68126105C>T		1104	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.F943	ENST00000380035.2	37	c.2829		15																																																																																			SKOR1	-	NULL		0.672	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	C	NM_001031807		68126105	+1	no_errors	ENST00000380035	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC14A2	8170	genome.wustl.edu	37	18	43224124	43224124	+	Splice_Site	SNP	C	C	T	rs140835811		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr18:43224124C>T	ENST00000255226.6	+	10	2166	c.1350C>T	c.(1348-1350)agC>agT	p.S450S	SLC14A2_ENST00000586448.1_Splice_Site_p.S450S|RP11-116O18.1_ENST00000590535.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	450					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGCCCCCAGCGGTGAATAGC	0.542																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	102.0	102.0	102.0		1350,1350	-2.2	1.0	18	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	SLC14A2	NM_001242692.1,NM_007163.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	450/921,450/921	43224124	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8170			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1351+1C>T	18.37:g.43224124C>T			A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	pfam_Urea_transporter	p.S450	ENST00000255226.6	37	c.1350	CCDS11924.1	18																																																																																			SLC14A2	-	NULL		0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	C		Silent	43224124	+1	no_errors	ENST00000255226	ensembl	human	known	70_37	silent	SNP	0.437	T
SLC27A5	10998	genome.wustl.edu	37	19	59022833	59022833	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:59022833C>G	ENST00000263093.2	-	1	599	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	164					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCAGGGTCACCCAGCTCAGCC	0.687																																																	0													11.0	10.0	11.0					19																	59022833		2180	4270	6450	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.490G>C	19.37:g.59022833C>G	ENSP00000263093:p.Gly164Arg		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G164R	ENST00000263093.2	37	c.490	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	15.43	2.832560	0.50845	.	.	ENSG00000083807	ENST00000263093	T	0.67171	-0.25	4.18	-0.912	0.10504	AMP-dependent synthetase/ligase (1);	1.688660	0.03854	N	0.272736	T	0.63260	0.2496	L	0.50333	1.59	0.09310	N	1	P	0.38300	0.626	B	0.43413	0.419	T	0.53479	-0.8433	10	0.49607	T	0.09	-1.9602	4.0537	0.09806	0.0:0.372:0.3894:0.2386	.	164	Q9Y2P5	S27A5_HUMAN	R	164	ENSP00000263093:G164R	ENSP00000263093:G164R	G	-	1	0	SLC27A5	63714645	0.000000	0.05858	0.042000	0.18584	0.254000	0.26022	-0.407000	0.07178	0.126000	0.18424	0.455000	0.32223	GGT	SLC27A5	-	pfam_AMP-dep_Synth/Lig		0.687	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59022833	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	0.050	G
SLC35A5	55032	genome.wustl.edu	37	3	112299501	112299501	+	Silent	SNP	A	A	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr3:112299501A>G	ENST00000492406.1	+	6	820	c.537A>G	c.(535-537)ggA>ggG	p.G179G	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	179					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CAGGACGTGGATTTCATCACG	0.448																																																	0													120.0	117.0	118.0					3																	112299501		2203	4300	6503	SO:0001819	synonymous_variant	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.537A>G	3.37:g.112299501A>G			D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Silent	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_DUF250,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.G179	ENST00000492406.1	37	c.537	CCDS2967.1	3																																																																																			SLC35A5	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr		0.448	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	HGNC	protein_coding	OTTHUMT00000354184.1	A	NM_017945		112299501	+1	no_errors	ENST00000492406	ensembl	human	known	70_37	silent	SNP	0.910	G
EIF3A	8661	genome.wustl.edu	37	10	120819626	120819626	+	Intron	SNP	G	G	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr10:120819626G>C	ENST00000369144.3	-	10	1454				SNORA19_ENST00000410656.1_RNA|EIF3A_ENST00000541549.1_Intron|SNORA19_ENST00000384737.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A						mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCACATAAAAGAAAGCAGGTC	0.338																																																	0													69.0	67.0	67.0					10																	120819626		876	1991	2867	SO:0001627	intron_variant	641451			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1327-396C>G	10.37:g.120819626G>C			B7ZBG9|Q6IBN8|Q96TD5	RNA	SNP	-	NULL	ENST00000369144.3	37	NULL	CCDS7608.1	10																																																																																			SNORA19	-	-		0.338	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA19	HGNC	protein_coding	OTTHUMT00000050634.1	G	NM_003750		120819626	-1	no_errors	ENST00000384737	ensembl	human	known	70_37	rna	SNP	0.987	C
SNHG24	101929369	genome.wustl.edu	37	14	101436281	101436281	+	lincRNA	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:101436281G>A	ENST00000554693.2	+	0	299				SNORD114-11_ENST00000363738.1_RNA|SNORD114-10_ENST00000363409.1_RNA|SNORD114-13_ENST00000364377.1_RNA|SNORD114-15_ENST00000364687.1_RNA|SNORD114-12_ENST00000365400.1_RNA|SNORD114-14_ENST00000362723.1_RNA																							CTAGAACTCTGAGGTCCAACA	0.428																																																	0													40.0	37.0	38.0					14																	101436281		876	1991	2867			767591																															14.37:g.101436281G>A				RNA	SNP	-	NULL	ENST00000554693.2	37	NULL		14																																																																																			SNORD114-13	-	-		0.428	RP11-909M7.3-001	KNOWN	basic	lincRNA	SNORD114-13	HGNC	lincRNA	OTTHUMT00000468646.1	G			101436281	+1	no_errors	ENST00000364377	ensembl	human	known	70_37	rna	SNP	0.066	A
SRRM4	84530	genome.wustl.edu	37	12	119563259	119563259	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr12:119563259T>C	ENST00000267260.4	+	7	977	c.589T>C	c.(589-591)Tcc>Ccc	p.S197P	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	197	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGCTCGGAGTCCCGCCCCTC	0.622																																																	0													40.0	50.0	47.0					12																	119563259		2050	4180	6230	SO:0001583	missense	84530			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.589T>C	12.37:g.119563259T>C	ENSP00000267260:p.Ser197Pro		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.S197P	ENST00000267260.4	37	c.589	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143861	0.57044	.	.	ENSG00000139767	ENST00000267260	T	0.27256	1.68	5.66	1.97	0.26223	.	0.632299	0.15742	N	0.246863	T	0.18341	0.0440	L	0.40543	1.245	0.20638	N	0.999875	P	0.40794	0.729	B	0.41988	0.372	T	0.09574	-1.0668	10	0.22706	T	0.39	-5.1287	3.8053	0.08774	0.1573:0.1789:0.0:0.6637	.	197	A7MD48	SRRM4_HUMAN	P	197	ENSP00000267260:S197P	ENSP00000267260:S197P	S	+	1	0	SRRM4	118047642	0.281000	0.24258	0.853000	0.33588	0.978000	0.69477	1.286000	0.33273	0.411000	0.25702	0.533000	0.62120	TCC	SRRM4	-	NULL		0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	T	NM_194286		119563259	+1	no_errors	ENST00000267260	ensembl	human	known	70_37	missense	SNP	0.779	C
STARD6	147323	genome.wustl.edu	37	18	51858190	51858190	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr18:51858190C>T	ENST00000581310.1	-	7	680	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	STARD6_ENST00000580990.2_Missense_Mutation_p.R10H|STARD6_ENST00000307844.3_Missense_Mutation_p.V103M			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	103	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATGGAGCCCACGGCAAAACTT	0.363																																																	0													111.0	103.0	105.0					18																	51858190		2203	4300	6503	SO:0001583	missense	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.307G>A	18.37:g.51858190C>T	ENSP00000462349:p.Val103Met			Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.V103M	ENST00000581310.1	37	c.307	CCDS11955.1	18	.	.	.	.	.	.	.	.	.	.	c	12.75	2.032788	0.35893	.	.	ENSG00000174448	ENST00000307844	T	0.42131	0.98	5.89	3.46	0.39613	Lipid-binding START (3);START-like domain (1);	0.060451	0.64402	N	0.000003	T	0.07593	0.0191	N	0.00034	-2.565	0.22354	N	0.999173	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.32370	T	0.25	.	5.4418	0.16513	0.1521:0.0822:0.0:0.7657	.	103	P59095	STAR6_HUMAN	M	103	ENSP00000310814:V103M	ENSP00000310814:V103M	V	-	1	0	STARD6	50112188	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	1.881000	0.39638	0.450000	0.26774	-0.346000	0.07831	GTG	STARD6	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.363	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STARD6	HGNC	protein_coding	OTTHUMT00000256000.3	C	NM_139171		51858190	-1	no_errors	ENST00000307844	ensembl	human	known	70_37	missense	SNP	1.000	T
SUN2	25777	genome.wustl.edu	37	22	39135417	39135417	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr22:39135417G>A	ENST00000405510.1	-	15	1951	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	SUN2_ENST00000405018.1_Silent_p.I552I|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000216064.4_Silent_p.I531I|RP3-508I15.20_ENST00000609428.1_RNA|SUN2_ENST00000406622.1_Silent_p.I531I|SUN2_ENST00000411587.2_Silent_p.I520I|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	531					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CCTGCTTCACGATGTGGTGCA	0.642																																																	0													91.0	59.0	70.0					22																	39135417		2203	4299	6502	SO:0001819	synonymous_variant	25777			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1593C>T	22.37:g.39135417G>A			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.I531	ENST00000405510.1	37	c.1593	CCDS13978.1	22																																																																																			SUN2	-	NULL		0.642	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	G	XM_039332		39135417	-1	no_errors	ENST00000216064	ensembl	human	known	70_37	silent	SNP	0.042	A
SVIL	6840	genome.wustl.edu	37	10	29843713	29843713	+	Splice_Site	SNP	G	G	A	rs540544541		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr10:29843713G>A	ENST00000355867.4	-	5	911	c.159C>T	c.(157-159)atC>atT	p.I53I	SVIL_ENST00000375398.2_Splice_Site_p.I53I|SVIL_ENST00000375400.3_Splice_Site_p.I53I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	53	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CACGCTCACCGATGTGGGGGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16803	0.0		0.0	False		,,,				2504	0.001																0													22.0	23.0	23.0					10																	29843713		2203	4300	6503	SO:0001630	splice_region_variant	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.160+1C>T	10.37:g.29843713G>A			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.I53	ENST00000355867.4	37	c.159	CCDS7164.1	10																																																																																			SVIL	-	NULL		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	G		Silent	29843713	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	silent	SNP	0.000	A
SWSAP1	126074	genome.wustl.edu	37	19	11486566	11486566	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:11486566G>A	ENST00000312423.2	+	2	623	c.564G>A	c.(562-564)ggG>ggA	p.G188G	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	188					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										AGCCAGGCGGGCTGGGCCCCA	0.642																																																	0													23.0	27.0	26.0					19																	11486566		2203	4300	6503	SO:0001819	synonymous_variant	126074			AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.564G>A	19.37:g.11486566G>A			Q8NAM1	Silent	SNP	NULL	p.G188	ENST00000312423.2	37	c.564	CCDS12259.1	19																																																																																			SWSAP1	-	NULL		0.642	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWSAP1	HGNC	protein_coding	OTTHUMT00000458789.1	G	NM_175871		11486566	+1	no_errors	ENST00000312423	ensembl	human	known	70_37	silent	SNP	0.001	A
SYN1	6853	genome.wustl.edu	37	X	47435556	47435556	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:47435556T>G	ENST00000295987.7	-	9	1256	c.1132A>C	c.(1132-1134)Aag>Cag	p.K378Q	SYN1_ENST00000340666.4_Missense_Mutation_p.K378Q	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	378	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CTTCCGTCCTTGCCATGTAGC	0.557																																																	0													173.0	77.0	110.0					X																	47435556		2203	4300	6503	SO:0001583	missense	6853				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.1132A>C	X.37:g.47435556T>G	ENSP00000295987:p.Lys378Gln		B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.K378Q	ENST00000295987.7	37	c.1132	CCDS14280.1	X	.	.	.	.	.	.	.	.	.	.	t	15.05	2.718360	0.48622	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.42900	1.46;0.96	4.66	4.66	0.58398	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.68632	0.3022	M	0.93197	3.39	0.80722	D	1	D;D	0.64830	0.994;0.982	P;P	0.62298	0.9;0.629	T	0.76656	-0.2879	10	0.87932	D	0	-12.8203	11.1587	0.48503	0.0:0.0:0.0:1.0	.	378;378	P17600;P17600-2	SYN1_HUMAN;.	Q	378	ENSP00000295987:K378Q;ENSP00000343206:K378Q	ENSP00000295987:K378Q	K	-	1	0	SYN1	47320500	1.000000	0.71417	0.997000	0.53966	0.006000	0.05464	7.635000	0.83286	1.530000	0.49136	0.438000	0.28831	AAG	SYN1	-	pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type		0.557	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	T	NM_006950		47435556	-1	no_errors	ENST00000295987	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNDIG1	79953	genome.wustl.edu	37	20	24523745	24523745	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr20:24523745C>T	ENST00000376862.3	+	2	645	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	4					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGGATGGCATCATTGAACAGA	0.512																																																	0													92.0	88.0	89.0					20																	24523745		2203	4300	6503	SO:0001819	synonymous_variant	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.12C>T	20.37:g.24523745C>T			Q6IA30|Q9H514	Silent	SNP	pfam_Interferon-induced_TM_protein	p.I4	ENST00000376862.3	37	c.12	CCDS13164.1	20																																																																																			SYNDIG1	-	NULL		0.512	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	C	NM_024893		24523745	+1	no_errors	ENST00000376862	ensembl	human	known	70_37	silent	SNP	0.000	T
TANC1	85461	genome.wustl.edu	37	2	160027048	160027048	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:160027048C>T	ENST00000263635.6	+	10	1320	c.1083C>T	c.(1081-1083)ccC>ccT	p.P361P	TANC1_ENST00000454300.1_Silent_p.P255P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	361					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GATTTGCTCCCTACAAGCCAC	0.338																																																	0													73.0	68.0	70.0					2																	160027048		1815	4080	5895	SO:0001819	synonymous_variant	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1083C>T	2.37:g.160027048C>T			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.P361	ENST00000263635.6	37	c.1083	CCDS42766.1	2																																																																																			TANC1	-	NULL		0.338	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	C			160027048	+1	no_errors	ENST00000263635	ensembl	human	known	70_37	silent	SNP	1.000	T
TBC1D24	57465	genome.wustl.edu	37	16	2546267	2546267	+	Missense_Mutation	SNP	C	C	T	rs398122966		TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:2546267C>T	ENST00000293970.5	+	2	251	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	TBC1D24_ENST00000567020.1_Missense_Mutation_p.R40C|TBC1D24_ENST00000434757.2_Missense_Mutation_p.R40C|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R40C	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	40			R -> C (in DOORS). {ECO:0000269|PubMed:24291220}.		neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCAGCTGGCGCGCCAGGGCTA	0.642																																																	0													42.0	51.0	48.0					16																	2546267		2094	4216	6310	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.118C>T	16.37:g.2546267C>T	ENSP00000293970:p.Arg40Cys		A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.R40C	ENST00000293970.5	37	c.118	CCDS55980.1	16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563218	0.86335	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.63580	-0.05;-0.05	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80190	-0.1485	10	0.87932	D	0	-53.2261	18.1789	0.89771	0.0:1.0:0.0:0.0	.	40;40;40	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	C	40	ENSP00000293970:R40C;ENSP00000390106:R40C	ENSP00000293970:R40C	R	+	1	0	TBC1D24	2486268	0.997000	0.39634	0.959000	0.39883	0.889000	0.51656	3.588000	0.53964	2.642000	0.89623	0.549000	0.68633	CGC	TBC1D24	-	NULL		0.642	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1	C	NM_020705		2546267	+1	no_errors	ENST00000293970	ensembl	human	known	70_37	missense	SNP	0.999	T
TLR7	51284	genome.wustl.edu	37	X	12904954	12904954	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:12904954G>T	ENST00000380659.3	+	3	1466	c.1327G>T	c.(1327-1329)Ggc>Tgc	p.G443C		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	443					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AAGTGAAGTTGGCTTCTGCTC	0.353																																																	0													64.0	70.0	68.0					X																	12904954		2196	4291	6487	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1327G>T	X.37:g.12904954G>T	ENSP00000370034:p.Gly443Cys		D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.G443C	ENST00000380659.3	37	c.1327	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	G	5.919	0.353687	0.11182	.	.	ENSG00000196664	ENST00000380659	T	0.42900	0.96	5.84	4.05	0.47172	.	0.295543	0.31601	N	0.007364	T	0.63426	0.2510	M	0.88640	2.97	0.38826	D	0.955746	D	0.76494	0.999	D	0.66847	0.947	T	0.65672	-0.6111	10	0.62326	D	0.03	.	6.0448	0.19753	0.1586:0.0:0.6879:0.1535	.	443	Q9NYK1	TLR7_HUMAN	C	443	ENSP00000370034:G443C	ENSP00000370034:G443C	G	+	1	0	TLR7	12814875	1.000000	0.71417	0.290000	0.24890	0.613000	0.37349	3.380000	0.52448	0.599000	0.29845	-0.237000	0.12165	GGC	TLR7	-	NULL		0.353	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	G	NM_016562		12904954	+1	no_errors	ENST00000380659	ensembl	human	known	70_37	missense	SNP	0.921	T
TMEM30B	161291	genome.wustl.edu	37	14	61747570	61747570	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr14:61747570G>A	ENST00000555868.1	-	1	988	c.296C>T	c.(295-297)tCg>tTg	p.S99L	TMEM30B_ENST00000355702.2_Missense_Mutation_p.S99L|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	99					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		CTCGGGCAGCGAGAAGTACCA	0.687																																																	0													9.0	9.0	9.0					14																	61747570		2117	4138	6255	SO:0001583	missense	161291			AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.296C>T	14.37:g.61747570G>A	ENSP00000450842:p.Ser99Leu		B3KR84|Q14D00	Missense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.S99L	ENST00000555868.1	37	c.296	CCDS32093.1	14	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309973	0.60414	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	4.72	4.72	0.59763	.	0.843089	0.10165	N	0.707841	T	0.53546	0.1803	M	0.62723	1.935	0.30087	N	0.808664	B	0.31879	0.344	B	0.32090	0.14	T	0.53136	-0.8481	9	0.34782	T	0.22	-23.4461	15.2782	0.73760	0.0:0.0:1.0:0.0	.	99	Q3MIR4	CC50B_HUMAN	L	99	.	ENSP00000347930:S99L	S	-	2	0	TMEM30B	60817323	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.018000	0.40991	2.460000	0.83146	0.650000	0.86243	TCG	TMEM30B	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk		0.687	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30B	HGNC	protein_coding	OTTHUMT00000413358.1	G	XM_090844		61747570	-1	no_errors	ENST00000355702	ensembl	human	known	70_37	missense	SNP	0.999	A
UNK	85451	genome.wustl.edu	37	17	73816073	73816073	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr17:73816073C>T	ENST00000589666.1	+	13	1831	c.1721C>T	c.(1720-1722)tCa>tTa	p.S574L	UNK_ENST00000293218.3_Missense_Mutation_p.S650L|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	574							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S574*(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTTCCACTCAGCATCCCCG	0.642																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											43.0	47.0	46.0					17																	73816073		2079	4208	6287	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1721C>T	17.37:g.73816073C>T	ENSP00000464893:p.Ser574Leu			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S650L	ENST00000589666.1	37	c.1949	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707970	0.89018	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.70595	2.14	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.74228	-0.3733	9	0.28530	T	0.3	-7.3252	18.0498	0.89344	0.0:1.0:0.0:0.0	.	574	Q9C0B0	UNK_HUMAN	L	650	.	ENSP00000293218:S650L	S	+	2	0	UNK	71327668	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.131000	0.77243	2.486000	0.83907	0.563000	0.77884	TCA	UNK	-	NULL		0.642	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	C	NM_001080419		73816073	+1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	T
USP11	8237	genome.wustl.edu	37	X	47104246	47104246	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chrX:47104246G>A	ENST00000218348.3	+	15	2138	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H	USP11_ENST00000377107.2_Missense_Mutation_p.R670H	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	713	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AGGCGACGACGCAAGCAGCTG	0.597																																																	0													49.0	44.0	46.0					X																	47104246		2202	4300	6502	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2138G>A	X.37:g.47104246G>A	ENSP00000218348:p.Arg713His		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.R713H	ENST00000218348.3	37	c.2138	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119570	0.56505	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.22945	1.95;1.93	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.598172	0.17121	N	0.186206	T	0.34687	0.0906	L	0.31294	0.92	0.33849	D	0.632343	B;D	0.64830	0.228;0.994	B;P	0.60886	0.06;0.88	T	0.42310	-0.9459	10	0.41790	T	0.15	-17.2633	13.1241	0.59344	0.0:0.0:1.0:0.0	.	439;713	B3KP28;P51784	.;UBP11_HUMAN	H	670;713	ENSP00000366311:R670H;ENSP00000218348:R713H	ENSP00000218348:R713H	R	+	2	0	USP11	46989190	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	2.059000	0.41384	2.158000	0.67659	0.513000	0.50165	CGC	USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.597	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47104246	+1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	0.919	A
USP34	9736	genome.wustl.edu	37	2	61561086	61561086	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr2:61561086C>T	ENST00000398571.2	-	19	2841	c.2765G>A	c.(2764-2766)cGt>cAt	p.R922H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	922					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGAAGAAGACGAAGTGAAAT	0.274																																																	0													51.0	48.0	49.0					2																	61561086		1821	4063	5884	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2765G>A	2.37:g.61561086C>T	ENSP00000381577:p.Arg922His		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.R922H	ENST00000398571.2	37	c.2765	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815838	0.90790	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.05139	3.49	5.85	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	L	0.52573	1.65	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04090	-1.0978	10	0.87932	D	0	.	14.9358	0.70954	0.0:0.9317:0.0:0.0683	.	922	Q70CQ2	UBP34_HUMAN	H	770;770;922	ENSP00000381577:R922H	ENSP00000263989:R770H	R	-	2	0	USP34	61414590	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.625000	0.83145	1.491000	0.48482	-0.136000	0.14681	CGT	USP34	-	NULL		0.274	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	C			61561086	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T
UTRN	7402	genome.wustl.edu	37	6	145051606	145051606	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr6:145051606C>G	ENST00000367545.3	+	53	7923	c.7923C>G	c.(7921-7923)aaC>aaG	p.N2641K	UTRN_ENST00000367526.4_Missense_Mutation_p.N196K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2641					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAAGAAGAAACCTACAATCAA	0.418																																																	0													63.0	68.0	66.0					6																	145051606		2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7923C>G	6.37:g.145051606C>G	ENSP00000356515:p.Asn2641Lys		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,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.N2641K	ENST00000367545.3	37	c.7923	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	1.758	-0.487423	0.04352	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.60040	0.22;3.52	5.41	2.65	0.31530	.	0.185542	0.26460	N	0.024242	T	0.14442	0.0349	N	0.14661	0.345	0.35714	D	0.81658	B	0.02656	0.0	B	0.06405	0.002	T	0.16394	-1.0404	10	0.06099	T	0.92	.	10.8562	0.46800	0.0:0.7932:0.0:0.2068	.	2641	P46939	UTRO_HUMAN	K	2641;196	ENSP00000356515:N2641K;ENSP00000356496:N196K	ENSP00000356496:N196K	N	+	3	2	UTRN	145093299	0.672000	0.27530	0.173000	0.22940	0.901000	0.52897	1.197000	0.32211	0.270000	0.21984	-0.157000	0.13467	AAC	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.418	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			145051606	+1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	0.908	G
WIZ	58525	genome.wustl.edu	37	19	15549853	15549853	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:15549853G>T	ENST00000389282.4	-	3	2021	c.1808C>A	c.(1807-1809)cCg>cAg	p.P603Q	WIZ_ENST00000263381.7_Intron			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	603					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGCCGCCTGCGGGATGAGGCT	0.622																																																	0																																										SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.1808C>A	19.37:g.15549853G>T	ENSP00000373933:p.Pro603Gln		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P603Q	ENST00000389282.4	37	c.1808		19	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325836	0.41197	.	.	ENSG00000011451	ENST00000389282	T	0.11712	2.75	4.79	4.79	0.61399	.	0.249544	0.33515	N	0.004828	T	0.22513	0.0543	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00630	-1.1636	7	0.32370	T	0.25	-13.4481	16.9912	0.86354	0.0:0.0:1.0:0.0	.	.	.	.	Q	603	ENSP00000373933:P603Q	ENSP00000373933:P603Q	P	-	2	0	WIZ	15410853	1.000000	0.71417	0.942000	0.38095	0.067000	0.16453	7.753000	0.85153	2.372000	0.80975	0.591000	0.81541	CCG	WIZ	-	NULL		0.622	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15549853	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.991	T
WWOX	51741	genome.wustl.edu	37	16	78458774	78458774	+	Missense_Mutation	SNP	C	C	T	rs74860463	byFrequency	TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr16:78458774C>T	ENST00000566780.1	+	7	979	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.H205Y|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	205	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CAGGCCTCTTCATGTGCTTGT	0.458																																																	0													314.0	322.0	320.0					16																	78458774		1936	4135	6071	SO:0001583	missense	51741			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.613C>T	16.37:g.78458774C>T	ENSP00000457230:p.His205Tyr		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH	p.H205Y	ENST00000566780.1	37	c.613	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963939	0.53507	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	T	0.22539	1.95	5.35	5.35	0.76521	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	M	0.71296	2.17	0.58432	D	0.999998	D	0.69078	0.997	D	0.67231	0.95	T	0.48456	-0.9034	10	0.87932	D	0	.	19.0641	0.93103	0.0:1.0:0.0:0.0	.	205	Q9NZC7	WWOX_HUMAN	Y	205;48	ENSP00000386161:H205Y	ENSP00000299644:H48Y	H	+	1	0	WWOX	77016275	1.000000	0.71417	0.996000	0.52242	0.447000	0.32167	7.484000	0.81180	2.479000	0.83701	0.655000	0.94253	CAT	WWOX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH		0.458	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	C			78458774	+1	no_errors	ENST00000566780	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF358	140467	genome.wustl.edu	37	19	7584278	7584278	+	Silent	SNP	C	C	G			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:7584278C>G	ENST00000597229.1	+	2	320	c.150C>G	c.(148-150)ctC>ctG	p.L50L	ZNF358_ENST00000394341.2_Silent_p.L50L|CTD-2207O23.11_ENST00000602083.1_RNA|CTD-2207O23.12_ENST00000599312.1_3'UTR	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	50					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTGAAGACCTCAACACTGTCC	0.592																																																	0													49.0	58.0	55.0					19																	7584278		2202	4299	6501	SO:0001819	synonymous_variant	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.150C>G	19.37:g.7584278C>G			Q9BTM7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L50	ENST00000597229.1	37	c.150	CCDS32890.2	19																																																																																			ZNF358	-	NULL		0.592	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	C			7584278	+1	no_errors	ENST00000394341	ensembl	human	known	70_37	silent	SNP	1.000	G
ZNF599	148103	genome.wustl.edu	37	19	35250659	35250659	+	Silent	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:35250659C>T	ENST00000329285.8	-	4	1420	c.1047G>A	c.(1045-1047)acG>acA	p.T349T		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGGAGCGGTGCGTGAAGGCCT	0.423																																																	0													57.0	54.0	55.0					19																	35250659		2203	4300	6503	SO:0001819	synonymous_variant	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1047G>A	19.37:g.35250659C>T			Q569K0|Q5PRG1	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.T349	ENST00000329285.8	37	c.1047	CCDS32991.1	19																																																																																			ZNF599	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	C	XM_086046		35250659	-1	no_errors	ENST00000329285	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF746	155061	genome.wustl.edu	37	7	149171493	149171493	+	Silent	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:149171493G>A	ENST00000340622.3	-	7	2197	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	ZNF746_ENST00000458143.2_Silent_p.T640T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	639					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCCCGCCATCGGTGGGTCCCA	0.652																																																	0													25.0	24.0	24.0					7																	149171493		2202	4296	6498	SO:0001819	synonymous_variant	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1917C>T	7.37:g.149171493G>A			A8K6Z9|Q6ZRF9	Silent	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T640	ENST00000340622.3	37	c.1920	CCDS5897.1	7																																																																																			ZNF746	-	NULL		0.652	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	G	NM_152557		149171493	-1	no_errors	ENST00000458143	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF775	285971	genome.wustl.edu	37	7	150093838	150093838	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr7:150093838G>A	ENST00000329630.5	+	3	376	c.269G>A	c.(268-270)gGg>gAg	p.G90E		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCTCCCGGGTCAGCCTCC	0.697																																																	0													7.0	10.0	9.0					7																	150093838		1907	4100	6007	SO:0001583	missense	285971			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.269G>A	7.37:g.150093838G>A	ENSP00000330838:p.Gly90Glu		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G90E	ENST00000329630.5	37	c.269	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	5.222	0.226470	0.09916	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.09163	3.76;3.01;3.14	4.07	0.922	0.19408	.	.	.	.	.	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	P	0.35328	0.495	B	0.28849	0.095	T	0.36065	-0.9763	9	0.06757	T	0.87	.	5.5362	0.17013	0.0:0.3081:0.3546:0.3373	.	90	Q96BV0	ZN775_HUMAN	E	90	ENSP00000419336:G90E;ENSP00000330838:G90E;ENSP00000417483:G90E	ENSP00000330838:G90E	G	+	2	0	ZNF775	149724771	0.018000	0.18449	0.002000	0.10522	0.183000	0.23260	0.567000	0.23608	0.023000	0.15187	0.555000	0.69702	GGG	ZNF775	-	NULL		0.697	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	G	NM_173680		150093838	+1	no_errors	ENST00000329630	ensembl	human	known	70_37	missense	SNP	0.001	A
ZNF808	388558	genome.wustl.edu	37	19	53057757	53057757	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3NI-01A-11D-A21Q-09	TCGA-FU-A3NI-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6e026274-d385-4564-a813-d5e45e310088	e3b5f179-5533-4e21-80c8-30e8b2074f2e	g.chr19:53057757C>T	ENST00000359798.4	+	5	1768	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTATACCATCGTAGACTTCA	0.423																																																	0													147.0	160.0	155.0					19																	53057757		2201	4300	6501	SO:0001583	missense	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1588C>T	19.37:g.53057757C>T	ENSP00000352846:p.Arg530Cys		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R530C	ENST00000359798.4	37	c.1588	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	11.00	1.510100	0.27036	.	.	ENSG00000198482	ENST00000359798	T	0.37915	1.17	1.5	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50292	0.1607	M	0.84585	2.705	0.09310	N	1	D	0.57257	0.979	P	0.60415	0.874	T	0.44128	-0.9348	9	0.87932	D	0	.	1.2731	0.02025	0.2143:0.4222:0.2116:0.1519	.	530	Q8N4W9	ZN808_HUMAN	C	530	ENSP00000352846:R530C	ENSP00000352846:R530C	R	+	1	0	ZNF808	57749569	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.419000	0.07071	-0.615000	0.05679	0.195000	0.17529	CGT	ZNF808	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	C	NM_001039886		53057757	+1	no_errors	ENST00000359798	ensembl	human	known	70_37	missense	SNP	0.000	T
